Created with Sketch.
19 minutes | Jun 15, 2021
This week's episode discusses a rare condition that turns bone into fibrous tissue. Fibrous Dysplasia can be devastating, but our guest, Brittany is taking it all in stride and is continuing her advocacy work with us by sharing her story. Without further ado...here's Brittany! I am a 36 year old woman from Indiana. I have a rare disease called Fibrous Dysplasia. It turns my bones into fibrous tissue. There is no cure and surgery is our only form of treatment. I have had 12 surgeries so far. At 13, I had to get a tooth pulled and after a few months an uncle of mine noticed the swelling from the extraction never went down. I then had a biopsy confirming FD. The following couple of years I started to experience debilitating headaches that led to a brain tumor being found and my bone disease was actually the reason for it forming. Surgeries started immediately after that diagnosis. The disease can cause deformity with our bones being able to grow at anytime for the rest of our lives including tumors and cysts as well. I have it in my face so of course my face changed quite a bit since I was a teenager. It was very hard to accept how things could change at anytime and took me about 20 years but I now see all those scars and growths as my uniqueness, my beauty. I wish I knew in the beginning how much I could gain from accepting myself and my flaws. Pain also took over my life for a good 20 years and was hard to accept the fact that I would live with this pain every single day for the rest of my life. That also took 20 years and I chose to finally stop just surviving and to start living as well. So now I use my pain as my push to advocate. It allows me to use my pain in such a beautiful way. It all has made me who I am and the worst parts are also all a part of my story and something that gives me so much strength and courage. Due to my disease I also lost all my teeth 5 years ago and it took a great toll on me. I am use to deformities and changes but not for having no teeth. Because of financial conditions i still do not have any teeth but i try each day to find help in getting new and to keep living happily despite it all. It also has became a part of my journey.
40 minutes | Jun 8, 2021
EDS Ehlers Danlos Syndrome
On this week's show we are speaking with Kristine Hoestermann, the founder of "FindYourRare" and she will be explaining how she was diagnosed with HEDS and where that diagnosis took her! Heeeeere's Kristine! Allow me to introduce myself🦓My name is Kristine (kk). I am the CEO of RARE.™ A brand that was born from my own frustrations following the onset of my symptoms in 2016. It never occurred to me I could wake up sick and never get better. That I would lose everything I knew without noticing. In the beginning of getting sick I experienced extreme isolation. I felt like I didn’t fit in anywhere. Among symptoms that have yet to have to be attributed to a known disease🧬I have been diagnosed with EDS , POTS, and Autoimmune Small Fiber Neuropathy Secondary to Unknown Connective Tissue Disease 🆗 That feels like a lot right? but I didn’t look sick and that made it really hard for not only me to accept but also the world around me 🌍 I created RARE.™ as a safe space for myself until I realized so many other rare disease fighters, chronic illness, chronic pain, invisible disease or any human needed that same thing. So I got to work and here we are. Together we can start to bridge the gap 🚧 🆗More about the RARE. Girl behind the brand; 🥄I am a fierce lover of Grey’s Anatomy. Meredith Grey is my person. 🥄You can be sure that I’ll be either listening to Taylor Swift or True Crime. 🥄My favorite book is a Thesaurus 🥄I am a loyal Ticondaroga Pencil user 🥄I love to create & I am a huge nerd 🥄My Wardrobe can easily be mistaken for your grandmas & I love it Change Starts Here. Connect With RARE.™ 📱Share With Us 🔛@findyour rare on all social platforms #findyourrare 🛍 Shop your purpose 🔛 www.findyourrare.com 🎙 Because We Are Strong Podcast 🔛 www.bwspod.com 🗳 VPR Membership Club 🔛 findyourrare.info/vrp ✉️ Reach Out 🔛 email@example.com
31 minutes | Jun 1, 2021
Food allergy is an immune system reaction that occurs soon after eating a certain food. Even a tiny amount of the allergy-causing food can trigger signs and symptoms such as digestive problems, hives or swollen airways. In some people, a food allergy can cause severe symptoms or even a life-threatening reaction known as anaphylaxis. Food allergy affects an estimated 6 to 8 percent of children under age 3 and up to 3 percent of adults. While there's no cure, some children outgrow their food allergy as they get older. It's easy to confuse a food allergy with a much more common reaction known as food intolerance. While bothersome, food intolerance is a less serious condition that does not involve the immune system. (credits to MAYO Clinic)
14 minutes | May 25, 2021
This week we will be discussing stroke awareness. More than 800,000 strokes happen each year in the United States. Stroke is the fifth leading cause of death in the U.S. and is a major cause of serious disability for adults. A stroke is caused by blocked blood flow to the brain and can affect a person’s speech, movement, memory, and more. It’s important to know the signs of a stroke and get help quickly. Some of the warning signs include: Weakness in the face, arm, or leg Difficulty speaking Vision loss Dizziness Brief loss of consciousness
71 minutes | May 18, 2021
Dr. Eugenie Hsu is a clinical psychologist by profession and lives in the San Francisco Bay Area with her husband and two children. In 2011 when her son was 8, he was diagnosed and treated for a craniopharyngioma brain tumor: Grateful for his survival but distressed by the many challenges he suffered in the aftermath of the tumor and surgery, Eugenie became focused upon finding solutions and treatments to improve his and other survivors’ quality of life. [One particular condition, hypothalamic obesity, was especially daunting and she was compelled to figure out a treatment for this difficult-to-treat condition. In 2016, she conducted an experimental treatment on her son using the neurohormone, oxytocin; subsequently, she chronicled their experiences in a widely-read blog (Hope for HO) and the successful treatment resulted in her publishing a case report in the Journal of Clinical Endocrinology and Metabolism.] Last year, Eugenie joined the board of directors at the Raymond A. Wood Foundation, a patient advocacy organization for hypothalamic and pituitary brain tumor survivors. Eugenie lives by her belief that patient and caregiver advocates can advance science and innovations to improve patients’ health and quality of life.
33 minutes | May 11, 2021
Fabry's Lysosomal Storage Disease
Brandi McAlexander was born and raised in Kirtland, New Mexico, a small town ten miles from the Navajo Native American Reservation. She is both Oglala Sioux and White Stick Creek. She is happily married to a veteran of two tours to Iraq. Together they have a happy full house with seven children; four girls and three boys. She worked in healthcare as a C-Suite executive for twenty years before deciding to change careers to a Juris doctorate. After receiving her JD in 2019 she opened up her own business "Pass the baby bar". Dedicating her time providing free education to college students pursuing a law degree. As of 2021, she has helped over 200 first year law school students. Halfway through law school she noticed a major loss of energy and began to believe she had a health issue. After years of tests, false diagnoses and untreated discomfort she was able to confirm the true culprit. During the Covid pandemic in 2020 through a genetic test, she received a confirmed diagnosis of Fabry’s Disease; having inherited both the x and y chromosomes. https://www.facebook.com/groups/110081906297349 Brandi M. | LinkedIn
31 minutes | May 4, 2021
CVID Common Variable Immunodeficiency
Today, we have with us today, Sheila Ames a registered nurse in Northern California who has been diagnosed with a rare type of a primary immunodeficiency known as common variable immunodeficiency or CVID for short. At the time of her diagnosis she was working as an ICU nurse and her first doctors order was: no more exposure to infectious patients. This diagnosis not only changed her career dramatically, it led her to following her life's purpose in opening her own health & wellness online coaching business to help others continue to find and work towards their life's purpose despite the hurdles that life gives us. Common variable immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies and an increased risk of infections. Although the disease usually is diagnosed in adults, it also can occur in children. CVID also is known as hypogammaglobulinemia, adult-onset agammaglobulinemia, late-onset hypogammaglobulinemia, and acquired agammaglobulinemia. NIAID supports research to determine genetic causes of CVID that may lead to therapeutic approaches to address the disease. Researchers also are exploring how antibody-based drugs may lessen the severity of the condition. Causes CVID is caused by a variety of different genetic abnormalities that result in a defect in the capability of immune cells to produce normal amounts of all types of antibodies. Only a few of these defects have been identified, and the cause of most cases of CVID is unknown. Many people with CVID carry a DNA variation called a polymorphism in a gene known as TACI. However, while this genetic abnormality confers increased risk of developing CVID, it alone is not capable of causing CVID. CVID is also linked to IgA deficiency, a related condition in which only the level of the antibody immunoglobulin A (IgA) is low, while levels of other antibody types are usually normal or near normal. IgA deficiency typically occurs alone, but in some cases it may precede the development of CVID or occur in family members of CVID patients. Symptoms & Diagnosis People with CVID may experience frequent bacterial and viral infections of the upper airway, sinuses, and lungs. Acute lung infections can cause pneumonia, and long-term lung infections may cause a chronic form of bronchitis known as bronchiectasis, which is characterized by thickened airway walls colonized by bacteria. People with CVID also may have diarrhea, problems absorbing food nutrients, reduced liver function, and impaired blood flow to the liver. Autoimmune problems that cause reduced levels of blood cells or platelets also may occur. People with CVID may develop an enlarged spleen and swollen glands or lymph nodes, as well as painful swollen joints in the knee, ankle, elbow, or wrist. In addition, people with CVID may have an increased risk of developing some cancers. Doctors can diagnose CVID by weighing factors including infection history, digestive symptoms, lab tests showing very low immunoglobulin levels, and low antibody responses to immunization. Treatment CVID is treated with intravenous immunoglobulin infusions or subcutaneous (under the skin) immunoglobulin injection to partially restore immunoglobulin levels. The immunoglobulin given by either method provides antibodies from the blood of healthy donors. The frequent bacterial infections experienced by people with CVID are treated with antibiotics. Other problems caused by CVID may require additional, tailored treatments. To learn more about CVID, visit the National Library of Medicine, Genetics Home Reference CVID site (Credits to NIH) If you would like to reach out to our guest: Sheila Ames BSN, RN, PHN Holistic Health Coach Business FB page: https://www.facebook.com/JourneyIntoWellness1 PID (primary immunodeficiency) group: https://www.facebook.com/groups/journeyintowellnesspid Instagram: @journeyintowellnesscoaching My website: journeyintowellness.net
23 minutes | Apr 27, 2021
Sturge Weber Syndrome
A mother of two from Alberta, Canada, Chelsey Peat was born with a rare condition called Sturge Weber Syndrome. She was born with a large portwine stain birthmark on the left side of her face and has glaucoma in her left eye. She has had multiple surgeries including life saving brain surgery as a baby. Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnormal blood vessels between the layers of tissue that cover the brain and spine known as leptomeningeal angiomas. They may also have increased pressure in the eyes known as glaucoma. Other symptoms of SWS may include seizures, muscle weakness, developmental and intellectual disability. SWS is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo. SWS is diagnosed based on the symptoms. Imaging studies, such as an MRI or CT-scan, are also used to aid in the diagnosis. There is no one treatment for SWS, so management involves treating the specific symptoms that are present. This may include anti-seizure medications, medications and/or surgery for glaucoma, and low-dose aspirin to reduce the pressure in the eyes and brain. The port-wine birthmark may be treated with various types of laser treatments. The long-term outlook for people with SWS is dependent on the severity of symptoms and varies from person to person. (Credits to The NIH on Rare Diseases)
23 minutes | Apr 29, 2019
Sarcoidosis (pronounced SAR-COY-DOE-SIS) is an inflammatory disease characterized by the formation of granulomas—tiny clumps of inflammatory cells—in one or more organs of the body. When the immune system goes into overdrive and too many of these clumps form, they can interfere with an organ’s structure and function. When left unchecked, chronic inflammation can lead to fibrosis, which is the permanent scarring of organ tissue. This disorder affects the lungs in approximately 90% of cases, but it can affect almost any organ in the body. Despite increasing advances in research, sarcoidosis remains difficult to diagnose with limited treatment options and no known cure. Today's episode we are speaking with Frank Rivera from New York. Frank founded Sarcoidosis of Long Island in 2012. In 2011 Frank was diagnosed with Sarcoidosis after being misdiagnosed with lung cancer for 7 years prior. Since opening Sarcoidosis of Long Island he has been a local, state and federal advocate for Sarcoidosis. Frank strives to raise awareness for Sarcoidosis nationally, but specifically in the government sector. He has represented the Rare and Sarcoidosis community as a speaker at two Congressional briefings for Sarcoidosis. Frank is also a WEGO Health Patient Leader, the National Ambassador for Foundation for Sarcoidosis Research, a Global Genes RARE Foundation Alliance Member & Advocate, an ambassador for The EveryLife Foundation and a Working Group Member and Long Island Liaison for National Organization for Rare Diseases (NORD). Named RUGD Ambassador for Illumina October 2017. Frank was named "Person of the Year " in Brookhaven Town. Frank organized RareNY in 2016, to raise awareness for Rare Diseases in the state of New York. He organized “A Day for Rare Diseases” on October 15th, 2016 in Long Island NY, in partnership with Global Genes, to raised awareness for all 7000+ rare diseases. In recognition of Frank’s efforts, Suffolk County and the town of Brookhaven officially declared October 15th “A Day for Rare Diseases”.
19 minutes | Apr 13, 2021
Every day, gifts from donors restore health to save and improve lives. As of 2019, 165 million people in the U.S. have registered as donors, but we all need to sign up. There are still men, women, and children waiting for a life-saving organ transplant. Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs Skin Bone and bone marrow Cornea Most organ and tissue donations occur after the donor has died. But some organs and tissues can be donated while the donor is alive. People of all ages and background can be organ donors. If you are under age 18, your parent or guardian must give you permission to become a donor. If you are 18 or older you can show you want to be a donor by signing a donor card. You should also let your family know your wishes.
20 minutes | Apr 6, 2021
Do you hear a constant sound in your ears, even though there is no external source linked to the noise? If so, you’re likely suffering from tinnitus, and you aren’t alone. It’s estimated that more than 50 million Americans suffer from some degree of tinnitus, 16 million Americans experience such severe ringing that they require some type of treatment, and another 2 million suffer from such debilitating tinnitus that it impacts their daily lives. Tinnitus is marked by phantom-like ringing, roaring, hissing, buzzing, or clicking noise; in other words, the sound can be heard, yet nothing outside of the ears appears to be making the noise. Those who suffer from tinnitus experience the sound on a regular, if not constant basis. It can affect one or both ears, and be mild or severe. What causes those phantom sounds? Here’s a look at 14 of the most common causes of tinnitus. (credits: https://bit.ly/3mm2qZt)
43 minutes | Mar 30, 2021
von Hippel-Lindau Chuvash Polycythemia
Our guest this week is Shannon Wyatt. Shannon has an extremely rare condition called von Hippel-Lindau Chuvash Polycythemia (we will abbreviate to VHL). Her only symptom that led to finding VHL was that she was diagnosed with kidney cancer at 34 years old, that didn’t even have any noticeable symptoms, it was just an incidental finding on an MRI, but when they took it out, they found it was malignant. A few years later, it was pulmonary embolisms in both lungs after a routine gallbladder removal that pointed to Chuvash Polycythemia after many previous labs had raised suspicion of it. Common signs and symptoms for VHL include: Tumors and hemangiomas of the kidneys, pancreas, adrenal glands, liver, eyes, brain and spinal cord Chuvash Polycythemia is typical know for causing: Noticeable symptoms are fatigue, headaches, a reddish complexion, and itching. Dangerous underlying issues are blood clots and high pulmonary blood pressure with low systemic blood pressure. Chuvash polycythemia is a rare, inherited disorder that is endemic to the Chuvash Republic of Russia, though it does occur in other parts of the world. NIH studies rare diseases not only to help the people who have them, but also to gain insight into gene functions that may benefit people with more common conditions. Complications of Chuvash polycythemia include blood clots and cerebral hemorrhage. The condition results from a genetic mutation that makes people unable to break down hypoxia inducible factor 2α (HIF2α), a protein that helps stimulate red blood cell production. The inability to degrade HIF2α leads to higher red cell production, even under high-oxygen conditions.
10 minutes | Mar 23, 2021
Bleeding Disorders, also known as Hemophilia, von Willebrand Disease, Coagulation Disorders, Blood Clotting Disorders, Clotting Factor Deficiencies Bleeding disorders are rare disorders affecting the way the body controls blood clotting. If your blood does not clot normally, you may experience problems with bleeding too much after an injury or surgery. This health topic will focus on bleeding disorders that are caused by problems with clotting factors, including hemophilia and von Willebrand disease. Clotting factors, also called coagulation factors, are proteins in the blood that work with small cells, called platelets, to form blood clots. Any problem that affects the function or number of clotting factors or platelets can lead to a bleeding disorder. A bleeding disorder can be inherited, meaning that you are born with the disorder, or it can be acquired, meaning it develops during your life. Signs and symptoms can include easy bruising, heavy menstrual periods, and nosebleeds that happen often. Your doctor will review your symptoms, risk factors, medical history, and blood test results to diagnose a bleeding disorder. Your doctor may recommend medicines or clotting factor replacement therapy to treat the bleeding disorder. Some bleeding disorders are lifelong conditions, and some can lead to complications. Even if you do not need medicine to treat the bleeding disorder, your doctor may recommend taking precautions before a medical procedure or during a pregnancy to prevent bleeding problems in the future. (credits to NIH) TRANSCRIPT Lita T 00:07 Hello and welcome to another episode of PodcastDX. The show that brings you interviews with people just like you whose lives were forever changed by a medical diagnosis. I'm Lita. Ron 00:18 I'm Ron Jean 00:19 and I'm moving to Hawaii. Lita T 00:21 No, she's not Jean 00:22 it snowed again last night. Lita T 00:23 I know but Ron 00:24 and today Jean 00:25 and today Lita T 00:26 still not moving to Hawaii. Jean 00:27 ohhh moving to Hawaii Lita T 00:28 Remember when you said you cannot shovel lava? Jean 00:30 Lava Lita T 00:31 Okay, Jean 00:31 this is true. Lita T 00:32 We're staying here. Jean 00:33 Okay. Lita T 00:33 Collectively we're the host of podcast dx. March is bleeding disorders Awareness Month, although bleeding disorders may be acquired. On today's show, we're going to be talking about the most common inherited bleeding disorder, von Willebrand disease, Jean 00:53 someone with (unitelligable) the blah...blah Lita T 00:55 What? Jean 00:56 Someone living with a bleeding disorder has blood, which does not clot properly. Ron 01:02 When someone is injured and bleeding, a blood clot forms to hopefully...to hopefully stop that person from losing too much blood. This process requires both blood platelets and clotting factors which clump together to form something like a dam to stop the bleeding. Lita T 01:20 Right? I remember watching Grey's Anatomy. Ron 01:22 (Chuckle) Lita T 01:23 Okay, we need more platelets, right? Jean 01:26 I don't watch Grey's Anatomy...but sure I could see them saying that. Lita T 01:28 Yeah, cuz you know, somebody is bleeding. They need more platelets! Jean 01:31 Right Ron 01:31 That's not scripted. Lita T 01:33 No, it's not. Jean 01:33 No. Lita T 01:35 Someone with a bleeding disorder may notice that they bruise easily bleed; excessively during medical or dental procedures or when cut; have unexplained nosebleeds and bleeding gums and internal bleeding. And when I was on blood thinners...no Jean 01:54 Here we go... Lita T 01:54 Right? Wait was I am blood thinners or aspirin? I was either on blood thinners or a baby aspirin at one time. And I was outside gardening. And I grabbed a thorn bush. Right? I was clipping and the thorn punctured something on my wrist. And I'm watching it and it's going: squirt, squirt, squirt, and I'm just watching it. I like Isn't that interesting? As it squirting like a squirt gun every you know it would like with my pulse. Squirt, squirt, squirt. And then finally I said: "Okay, better stop this." So, I put pressure on it to stop it. But um, yeah. Jean 02:24 We're all surprised she's still here. (Chuckle) Lita T 02:36 (Boisturious laughter) Ron 02:36 But you definitely painted a picture. Lita T 02:38 Yeah. Right. So that's what it would be like, if you have a bleeding disorder. Jean 02:41 I don't know if that's exactly what it would be like, that sounds like an arterial spray that squirting in very, very dangerous. Lita T 02:47 Okay, that's a bleeding disorder. Jean 02:49 Bleeding problem. Ron 02:50 So Lita T 02:51 yeah. Ron 02:52 In addition to obtaining a complete medical history, your healthcare provider may order a complete blood count, a bleeding time test and or a platelet aggregation test to help diagnose your condition. Jean 03:07 And have you guys ever had a bleeding time test? Ron 03:10 Me personally? No. Jean 03:11 Oh, they like cut your, nick, your ear and then stand there and wait to see when it stops bleeding. Lita T 03:18 (chuckling) Jean 03:19 That's what I remember. Lita T 03:19 like watching. paint dry? Ron 03:20 I don't like your doctor's. Jean 03:21 Yeah, well, that wasn't my doctor. That was my mom. Oh, no, just kidding. Okay. Um, treatment for bleeding disorders will likely depend on the severity and cause of the specific bleeding disorder an individual has. Lita T 03:33 Right. And although I had never heard of it before, today, the most commonly inherited bleeding disorder is von Willebrand disease. Ron 03:45 Well I can say that approximately 1% of the population here in the US are affected by von Villa brain disease. And it's characterized by an insufficient amount of a protein. Ironically, the von Willebrand factor or VFW Jean 04:03 VWF Lita T 04:04 The VFW hopefully doesn't. It's causing you to bleed you're going to the wrong VWF Ron 04:11 Did I say I do glasses. I'm sorry, the von Willebrand factor or v w F, which aids in the clotting, Lita T 04:18 right? There are three forms of von Willebrand disease. Jean 04:24 We're gonna say it differently every time you say Lita T 04:26 Yes, okay. Individuals with type one have less VWF than average and may have associated bleeding issues. Jean 04:37 Were and those living with type two von Willebrand disease have enough v wF in their system, but their Vidya wF does not function correctly or is incorrectly formed. And Ron 04:49 type three, v w.f Jean 04:52 Vwd willen brand disease Oh, tight as opposed to von Willebrand factor. Oh, Okay, Lita T 05:00 okay. So type three v WD. Ron 05:03 Okay? So type three v WD is very serious individuals with this form of von Willebrand disease, do not make v w f at all. Oh, yeah, right. And their platelets cannot clot and this is very This is a very serious condition which makes bleeding difficult to control. Lita T 05:23 That sounds terrible. Individuals with von Willebrand disease should typically avoid taking medications which may increase their risk of bleeding such as aspirin, or non steroidal anti inflammatories. Jean 05:37 And if you have a bleeding disorder, it is vital that you inform your health care providers, including your doctors and dentists. And I would suggest if you know if it's a very serious form, that you have an ID bracelet that states that Lita T 05:50 Oh, yeah, for sure. And carry a lot of gauze. Jean 05:54 I don't get a tourniquet. I don't think you should be able to carry a tourniquet, no band aids. I think people that carry Okay, tourniquets are very serious, Lita T 06:02 right. Okay. If you would like to know more about bleeding disorder awareness, check out the link to the national hemophilia foundation Foundation's website which will be on our web page, or you may want to donate to a red tie fundraiser. Jean 06:21 And I think Haemophilia is what we've all associated with writing disorders. That's what I've heard, right? But it's very, very rare. It just gets a lot of publicity, because you hear about, you know, like Royals hat being haemophiliac and or being haemophiliacs because, Lita T 06:34 you know, that's, that's where it came from. Jean 06:37 No, it's just inbreeding, and the those, you know, because then you're passing the factor on and you're increasing the chance, or likelihood that two people with the same factor will pass it on. But Ron 06:47 that's the most common, right. No, Jean 06:49 no, no, it's not. It's very rare. von Willebrand disease is the most common. Isn't that weird? And we've never heard of that. Yeah, right. That's Yeah, it's very counterintuitive. It is very counterintuitive. But that's what the internet says, and we believe everything on the internet. Lita T 07:07 And gene would like you to know about a blood parfait recipe in case you wanted to share this with your friends. Jean 07:17 Well, the National hemophilia foundation does try to utilize different techniques to help people understand more about their blood and clotting. And to help illustrate that, they suggest that you could try to make a blood purvey, you could use a cream colored substance like vanilla ice cream, or maybe a yogurt as your base use Cheerios. And that will represent your platelets, although they're nice and round, which I don't understand. And you kind of want something like awkwardly shaped but red m&ms or red Hots, and those could be the red blood cells, white chocolate chips, or mini marshmallows. And these can be the white blood cells, pretzels. And these can be the fibrin which is the kind of the stuff that joins with platelets to form that your clot, okay. Gummy worms in the eye can actually represent the V WD. And to top it off, put on some rainbow sprinkles, and that'll represent the 13 other blood factors. Lita T 08:14 Yeah, we'll be doing that. Ron 08:18 I gotta tell you, I learned quite a bit on this. This morning. Lita 08:21 Oh well, that's Jean 08:22 that's good. Lita T 08:23 Yeah, I'm glad somebody did. Yeah, I Jean 08:24 learned we're not moving to Hawaii. Lita T 08:26 No, we're not moving to Hawaii. Ron 08:28 Well, for our listeners, if you have any questions or comments related to today's show, you can drop us a line at podcast firstname.lastname@example.org through our website, podcast, dx comm on Facebook pitter pitter pitter patter pitter patter on Jean 08:47 his own app. Wow. Have you heard from somebody on Twitter? I hear they have a lot of patter. Ron 08:54 Let's try this again. Okay, through our website, podcast, dx.com on Facebook, Twitter, Pinterest, or Instagram, Jean 09:02 I can appear as a combination of Twitter and Pinterest. I like it. Lita T 09:05 Yeah. Okay. And if you have a moment to spare, please give us a review wherever you get your podcast. As always, please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regime. Never disregard professional medical advice or delay of seeking it because of something you have heard on this podcast till next week.
12 minutes | Mar 16, 2021
Trisomy is an abnormality in which an organism has the wrong number of chromosomes. In humans, a normal baby will have 46 chromosomes in 23 pairs, with each parent contributing 23 chromosomes. When trisomy occurs, the individual is born with three instances of a particular chromosome instead of the usual two, resulting in 47 total chromosomes instead of 46. The results of this extra data can vary, but tend to manifest in the form of birth defects, some of which can be quite severe. The most common cause of trisomy is a problem in the duplication of chromosomes to create egg and sperm cells. Somewhere along the way, a chromosome duplicates itself twice, creating a full pair. When the egg or sperm cell joins with its counterpart, the extra chromosome is taken along, creating a set of three where should be two. In some cases, a chromosome only duplicates partially, leading to partial trisomy. Some of the more well-known forms of trisomy are trisomies 13, 18, and 21. Trisomy 13 is also known as Patau syndrome, after the doctor who identified it. Patau syndrome is characterized by physical and mental defects, with heart defects being very common. Trisomy 18 is known as Edward's syndrome, and it is accompanied by severe mental and physical problems; most patients do not survive beyond a year. Trisomy 21 is Down's syndrome, a condition which is often accompanied by severe mental disabilities. There are other forms; trisomy 16, for example, usually triggers a miscarriage, while trisomy 9 leads to malformations in the skull and nervous system. The number in each name refers to the chromosome in question; in some cases, patients have mosaic trisomy, meaning that the defect only shows up in certain cells. Trisomy 16 is believed to be the most common form in humans, while trisomy 21 is the most common form in viable infants. It is possible to test for trisomy, along with other potential birth defects, and women who are at risk for the condition may undergo prenatal testing to check for it. If a prenatal test such as an amniocentesis reveals a trisomy, a doctor will discuss options with the patient. In some cases, doctors may recommend that the pregnancy be terminated, because the baby is nonviable. Some parents may choose to carry on with the pregnancy anyway, for ethical or moral reasons. Some people with trisomy leave happy, full lives, while other infants survive for only a short time after birth. [tri´so-me] the presence of an additional (third) chromosome of one type in an otherwise diploid cell (2n +1). adj., adj triso´mic. Trisomy 8 syndrome is a syndrome associated with an extra chromosome 8, usually mosaic (trisomy 8/normal), characterized by mild to severe mental retardation, prominent forehead, deep-set eyes, thick lips, prominent ears, and camptodactyly (abnormally flexed fingers). Trisomy 13 syndrome/ Patau's Syndrome Holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, cleft lip and palate, polydactyly (extra fingers or toes), and dermal pattern anomalies, as well as abnormalities of the heart, viscera, and genitalia. Trisomy 18 Syndrome/ Edwards Syndrome is a condition due to the presence of an extra chromosome 18, characterized by neonatal hepatitis, mental retardation, scaphocephaly or other skull abnormality, small receding mandible, blepharoptosis (drooping eyelids), low-set ears, corneal opacities, deafness, webbed neck, short digits, ventricular septal defects, Meckel's diverticulum, and other deformities. Information for families affected by this disorder and professionals caring for affected individuals can be obtained from the Support Organization for Trisomy 18, 13, and Related Disorders (S.O.F.T.), 2982 S. Union St., Rochester, NY 14624. Trisomy 21 Syndrome/ Down Syndrome. Parents can find out more here: National Down Syndrome Society Trisomy 21 is the most common chromosomal anomaly in humans, affecting about 5,000 babies born each year and more than 350,000 people in the United States. Trisomy 21 is a genetic condition caused by an extra chromosome. Babies with Down syndrome however, end up with three chromosomes at position 21, instead of the usual pair. Parents can find assistance here: Support for Disorders of Chromosome 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia) with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). (Credits to: Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition.) TRANSCRIPT: s8e14 Trisomy Lita T 00:08 Hello, and welcome to another episode of podcast dx, their show that brings you interviews with people just like you whose lives were forever changed by a medical diagnosis. I'm Lita. Ron 00:19 I'm Ron, Jean 00:20 and I'm Jean Marie. Lita T 00:21 Collectively we're the hosts of podcast dx. March is trisomy Awareness Month, they're spelled t r i s o MY. With that in mind, we're going to talk about a few of the more common forms of trisomy today. Ron 00:39 Right? Let's go over a bit of background here, humans have 23 pairs of chromosomes. And of these 22 are autosomes. The 23rd pair of chromosomes determines what genetic or physical sex characteristics an individual is born with, ie whether they're born male or female. Jean 00:59 Okay, so let's picture 23 pairs of shoes and shoe boxes, numbered one to 23 lined up against a wall. Okay, if you open any one of those shoe boxes, you'll see two individual shoes that looks nearly identical mirror images of one another. If you counted up all of the shoes in the 23 shoe boxes, you would have 46 individual shoes in total. So 23 pair 46 total. Lita T 01:27 Okay. Jean 01:29 And now picture, there's a glitch in the mechanism at the shoe factory. They're going down. There is a hesitation in the assembly line and a mistake is made putting an extra shoe into one of the boxes that ends up in our shoe lineup. Now if you open that box, there's three shoes in there. Lita T 01:47 Lucky, you Jean 01:48 no not really Lita T 01:49 because and you still have to use that extra shoe all the time. Jean 01:53 Yep. Lita T 01:53 So how do you do it? Jean 01:55 not easily. Lita T 01:55 So it may sound as if we're making light of these conditions. But we're not we understand that genetic disorders are very serious and can be scary for new parents. Please keep in mind that these conditions are often a result of a random occurrence and not the parents fault. Please consult a qualified genetic counselor and your health care provider. If you or your partner have experienced a pregnancy loss because of trisomy, please take heed that it may not occur again. It's not like at all the time Jean 02:29 right but a bit about approximately or it's thought that about half of pregnancy losses due to trisomy Lita T 02:36 seek out physical and mental support. You're not alone. Ron 02:41 Right, those are great points. Lita. Now getting back to trisomy the term trisomy was first used in the 1930s to describe a cell with an extra chromosome, kind of like what gene was talking about with the shoes. The route tri meaning three refers to a third chromosome, where there would typically only be a pair of chromosomes. trisomy is rare and may occur in some cells, mosaic trisomy or in all of the cells a full or complete trisomy, several forms of complete trisomy will not result in a live birth. There is also something called a partial trisomy, which occurs when there are two full chromosomes and a partial chromosome. But back to the shoe analogy two shoes. And let's say a shoe heel. Lita T 03:35 That would be a partial Ron 03:36 Yeah, right. Jean 03:38 And yeah, what are you going to do with an extra heal? This specific diagnosis and his overall effect on an individual's physical, intellectual and developmental health will depend and which chromosome is affected and several other key factors, especially you know, is it mosaic or complete or partial? Typically individuals with trisomy have a distinctive forehead, eye and nose characteristic for that particular form of trisomy and health issues can vary widely and from nearly undetectable and have barely any symptoms to fatal. Ron 04:15 right, right, right. Right. Now we're going to talk briefly about five of the more common autosomal forms of trisomy found in humans. trisomy 8, 9, 13, 18 and 21. Lita T 04:31 Okay, trisomy eight, mosaic mosaic says Jean 04:35 mosaicism Lita T 04:36 mosaicism mosaicism syndrome, that's hard to say abbreviated as T 8 MS occurs when there are three number eight chromosomes. So the eight, so the number is referred to as the number of chromosomes. Jean 04:55 Nope. Ron 04:56 Well, it's like the pair of shoes she was talking about Lita T 04:57 Oh number eight chromosome. Jean 04:59 So looking Back at my rather convoluted analogy... Lita T 05:02 Yeah Jean 05:02 ... in shoe box number eight Lita T 05:04 Okay, okay Jean 05:04 along the wall, you have three shoes, Lita T 05:06 okay instead of two, Jean 05:08 right Lita T 05:09 Um, and individuals with trisomy eight mosaicism syndrome have a third copy of chromosome eight in some, but not all of their cells. Ron 05:22 Yeah, Lita T 05:22 okay. Ron 05:23 So trisomy eight mosaicism syndrome is also known as Warkany Syndrome 2 individuals with this genetic disorder may have intellectual disabilities and or issues with their joints, especially in the knees. They may also have problems with their kidneys, their heart, their spine, and or their skeletal system. And it occurs far more often, four to one ratio in those born with male reproductive organs than those born with female reproductive organs. It is typically the result of a random change in the chromosomes. But it is not something that is typically inherited. Individuals with trisomy eight mosaicism syndrome may be more susceptible to infections and at a higher risk for some cancers. Jean 06:18 On to trisomy nine, complete and mosaic. trisomy nine are rare chromosomal conditions which are often fatal. The life span for individuals with partial trisomy nine may not be affected. So if you have Lita T 06:34 complete Jean 06:34 if you have an extra chromosome in all of your alongside all of your nine, or if you have it in most of your cells, then it's fatal, or most likely fatal. And if you have it just a little piece of chromosome extra piece of chromosome nine, you might be fine. Lita T 06:53 Okay Jean 06:54 Your lifespan might be fine, Lita T 06:55 okay. Some signs and symptoms of partial trisomy nine may include heart spinal cord and brain defects, which may be detected with prenatal ultrasound. Partial trisomy nine may also result in issues with the individual's head and nose shape, the joints, the eye, and also kidney problems. These individuals may have cognitive and developmental delays. Ron 07:25 And then I think it's pronounced Patau? Lita T 07:30 Patau ? Ron 07:31 Patau syndrome, or better known, I guess, is trisomy 13. This is often fatal in infancy. And again, this condition is a result of a random chromosomal change. It may affect the heart, the brain, the spine, eyes, fingers, toes, and basically the overall muscle tone of the individual. Jean 07:55 And then there's um, trisomy 18, which is also known as Edwards syndrome, which is often fatal. Those individuals who do not live past their first year of life may have severe intellectual challenges, defects in the internal organs and heart. Their fists may be constantly clenched and their fingers may overlap. And that's a distinctive feature of trisomy 18. Lita T 08:20 Okay? And trisomy 21, also known as Down syndrome, is one of the more common and well known forms of autosomal autosomal, autosomal trisomy, individuals with trisomy 21 may have mild to severe intellectual disabilities. Typically, children with Down syndrome reach developmental milestones a bit late, the lifespan for individuals with Down syndrome has been increasing. Jean said that Well, back in the, well, I, we had a neighbor who had Down syndrome when I was young. Jean 08:32 autosomal, Mhhmm Lita T 09:00 And we were talking about when I was like, eight, and I think he lived to maybe 40 years old. What's the lifespan? Now? Ron 09:10 ummm 60 isn't it? Jean 09:11 Yeah, it isn't, it is in the 60s, it went from like 25 to 60 in a rather short period of time, and the more that we realize that individuals with Down syndrome, you know, are capable of living... Ron 09:23 Right Jean 09:23 ... a full and rich life, the longer the lifespan will, you know, be Ron 09:27 a lot of it has to do with integrating into society and not being shut away. Lita T 09:31 Right. At one time they had just institutions that would be put in right? Ron 09:35 exactly, exactly Jean 09:36 yeah, having, you know, you know, family structure Lita T 09:40 Right Jean 09:40 and support system and realizing that you you know, you can Ron 09:45 and we also have to add too, like with a lot of these private companies and government that help support, you know, it gets people out in the community to get some work and get them involved in things and that contributing, Jean 09:59 right we follow Ron 09:59 to the lifespan Jean 10:01 runway model on Instagram with debt lives with down syndrome or was born with Down syndrome and some other people who are living Yeah, very full rich lives. Ron 10:10 Right? Right. Right, right. So trisomy and other genetic disorders are very complicated, which we have just talked about, we will include several links to them on our website. And if you'd like to learn more or have concerns, you know, you can please You can contact your your health care provider, I'm sure they can give you more information, Jean 10:34 right? Yeah, we didn't mention it. But your, your chances of having a child with Down syndrome increase the old as you get older, and it's the, they're not entirely sure as to why it's thought that the proteins that hold those two chromosomes together denatures over time, just like if you have a banana, and when the banana, you first get it, it's green, and you know, nice and solid, but then as it ages that kind of turns to mush. Well, that bond between the two chromosomes splits. And then you have these wandering chromosomes, Ron 11:07 Gotcha Jean 11:07 and they will bond with other chromosomes. And then you have a third, there's also Well, there's the opposite spectrum of trisomy where you have only one chromosome and that also causes some issues. Lita T 11:20 So age, age is a factor. Jean 11:22 Age is a factor for women. Lita T 11:24 If you have any questions or comments related to today's show, you can drop us a line at podcast email@example.com through our website, podcast, dx dot com, on Facebook, Twitter, Pinterest or Instagram. Ron 11:38 If you have a moment to spare, please, please please give us a five star review wherever you get your podcast. And as always, please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding medical condition or treatment, and before undertaking a new health care regime, and never disregard professional medical advice or delay in seeking it because of something that you have heard on this podcast Jean 12:12 till next week.
25 minutes | Mar 9, 2021
Lysosomal Storage Disease
Lauren, is here speaking with us today about Lysosomal Storage Disease. Lauren has four siblings whom she loves dearly, and graduated in 2011. She worked at a community center until COVID put a hold on social gatherings. She considers herself a social person and is grateful for the chance to get her story out into the world. Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. (Credits to RareDiseases.Org) TRANSCRIPT SPEAKERS Lita T, Lauren, Jean, Ron Lita T 00:09 Hello, and welcome to another episode of PodcastDX, the show that brings you interviews with people just like you, whose lives were forever changed by a medical diagnosis. I'm Lita ... Ron 00:20 and I'm Ron, Jean 00:21 and I'm Jean Marie. Lita T 00:23 Collectively, we're the hosts of PodcastDX. Our guest today is Lauren Ryan. She has four siblings whom she loves dearly. She graduated in 2011 and works at a community center. Not this year because a COVID. She's a very social person and grateful for getting her story out to the world. And today she's going to be talking to us about lysosomal disease. Jean 00:50 Hi, Lauren. Ron 00:51 Lauren, thank you for taking the time to join us today. Please start out by telling us and our listeners. What exactly is, and I hope I'm pronouncing this right, Galactosidosis Lysosomal Disease? And please for the rest of the episode, can we abbreviate this and just call it Galacto? Is that okay? Lauren 01:18 Yes, you may call it that. Galactosidosis, also known as Galactosialidosis is a condition that affects many areas of the body. The three forms of Galactosidosis are distinguished by the age at which symptoms develop and the pattern of features. Jean 01:50 And Lauren what were the symptoms that you started having and at what age did they develop? Lauren 01:57 Well, I had Galactosidosis...they diagnosed me when I was born. Jean 02:05 Okay. Lauren 02:05 So, the early infantile form of Galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth, a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen. Additional features of this form include abnormal bone development and distinctive facial features that are often described as "coarse." Some infants have an enlarged heart, an eye abnormality called a cherry red spot, which can be identified with an eye examination; and kidney disease that can progress to kidney failure. Infants with this form usually are diagnosed between birth and 3 months; they typically live into late infancy. The late form of Galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems. Lita T 04:23 Oh, that's a hard one. Ron 04:24 Yes, it is. Yeah, Lita T 04:25 Let me see if I can help you with that one: heptyl ...let's see Jean 04:28 Hepato... Lita T 04:29 Hepato ...hepato Ron 04:30 Hepato... Lita T 04:31 Oh Hepatosplenomegaly, Jean 04:35 I don't think that's it. Lita T 04:36 Okay. I think it has to do with the the liver and the spleen. Ron 04:41 Can I take a stab at it? Jean 04:42 Yeah, Lita T 04:42 Yeah. Ron 04:45 Hepato..splen...nom...ah...gally, Lita T 04:48 Okay. Anyway, Jean 04:49 One day we'll get hosts that actually know how to pronounce medical terms. But, today is not the day! I'm sorry. Lita T 04:54 Right. That's okay, go ahead, Lauren. Lauren 04:55 ...and "coarse" facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and cherry red spot. Children with this condition typically develop symptoms within the first year of life. The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile form of Galactosialidosis has signs and symptoms that are somewhat different of the other two types. This form is distinguished by difficulty coordinating movements, muscle twitches, seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin, abnormalities in the bones of the spine, "coarse" facial features, a cherry red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. This form is typically associated with normal life expectancy. Lita T 07:01 Thank you, thank you for sharing that. Ron 07:02 Yeah, that's... that's definitely a lot Lauren. Can you please tell us how someone gets Galacto? Lauren 07:10 It is caused by a mutation of CTSA gene. Galactosialidosis belongs to a larger...a large family of lysosomal storage disease, each caused by the deficiency of a specific lysosomal enzyme or protein. In Galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes. Lita T 07:59 Okay, Jean 08:00 and I think we've said this of many chronic illnesses and diseases: it's...you have to become like a subject matter expert, because I think for most people, like myself included, when you mentioned lysosomes and things, I'm just...I draw a blank! Lita T 08:15 Right Jean 08:15 Because it's just...the body is so complex Lita T 08:18 It is, but basically what it is, it's a metabolic disorder. So we'll...we'll leave it at that as far as a simplistic term. And thank you, Lauren. I think our listeners will have a little bit of an understanding of what we're talking about now and we will have links on our website so that people can learn more. Also. Could you please tell us how did your condition develop? And I kind of missed when you said...when did your...when did yours... Jean 08:51 I think she said infancy, right? Lita T 08:52 Early infancy or late infancy? I don't remember what you said. Lauren 08:57 So I was diagnosed at birth. Lita T 09:00 Oh, at birth. Lauren 09:01 When I was born. Lita T 09:02 Okay. Lauren 09:03 Yeah. Lita T 09:04 Okay, and how has it developed with you over time? What have been the symptoms that you've had to ah...to deal with here? Lauren 09:15 Well, I have had like little to no symptoms over the course of the year. Like they haven't noticed any changes or anything with my disease in particular. But it's different for every person. Lita T 09:38 Sure. Ron 09:38 Right. Lauren 09:39 Living with like a chronic illness or disease or whatever. And so it's gonna be different for everybody. For me, I haven't noticed like any abnormal symptoms or whatever. Jean 10:00 I did notice that you said the cheery red spot, which is something an eye doctor would have to see like, by looking at your retina, does that affect your vision at all? Lauren 10:12 I don't think it does. No. Jean 10:14 Okay, okay. Lauren 10:14 I go see an eye doctor, a pediatric doctor every year. Jean 10:22 Okay, okay. Lauren 10:23 Just to see if my vision has changed at all. Lita T 10:29 Okay. Jean 10:31 And Lauren, how is Galacto or lysosomal storage disorder treated? Lauren 10:37 The variant that occurs in infants can be treated in several ways: So, it can be treated with intravenous (IV) enzyme replacement. Or it can be done with bone marrow transplant, to slow the disease progression. Or umbilical cord blood stem cell transplantation, to restore missing enzymes. Ron 11:01 Okay Lauren 11:10 And for adults, the treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with Galactosialidosis are encouraged to routinely see their genetic counselors, neurological, optha... Lita T 11:45 Ophthalmological Lauren 11:45 Ophthalmological, Lita T 11:52 Right, right ophthalmological I can't say it either today. Lauren 11:56 ...ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Jean 12:08 Okay, it makes...Yeah, that makes a lot of sense. So you're treating the symptoms as they come along? And can lysosomal storage disorders...is there a...like a cure or a potential cure? I know, you said that, you know, like bone marrow transplantation can help slow the progression. Are they thinking you know about gene editing or anything like that in the future? Lauren 12:29 There, there isn't a cure for lysosomal storage disorders, a few treatments can help. And I actually went to St. Jude's Children's Research Hospital, in Memphis Tennessee. And like, in the beginning, they weren't gonna do a bone marrow transplant. But they, they did research on that and found it too risky. Lita T 13:02 Okay Jean 13:03 Okay Lauren 13:04 So, for now, their doing the enzyme replacement therapy. Which they still have to get past the FDA. Jean 13:16 Ooh... Lauren 13:16 ..which has been...it's over 10 years now... Lita T 13:22 Wow! Lauren 13:22 ...that it's been at the FDA. So, I've been waiting over 10 years. Ron 13:29 Wow. Jean 13:30 Well, and I would have to say for all of our listeners out there: if you can donate bone marrow, it's a quick cheek swab to see if you're a match for someone who needs it. So, hopefully this interview will encourage more people to get out there. And you know, donate. Lita T 13:47 Right, Ron 13:47 Right. So, Lauren, can you tell our listeners how common are these lysosomal storage disorders? Are they rare or they pretty common or what can you tell us? Lauren 14:00 Sure, more than 100 cases of the lysosomal storage disease have been reported. Approximately 60% of people with Galactosialidosis have the juvenile form. Most people with this type of condition are of Japanese descent. Now I have contact with three people with Galactosialidosis. And only one of them have like, are close to me medical wise. Lita T 14:51 Okay, Jean 14:51 And yeah, I think we said earlier in another episode that less than 200,000 cases is rare. So yours is Lita T 14:59 100 Ron 14:59 Very rare. Jean 15:00 Very, very, very rare. Lauren 15:02 Yeah. Jean 15:02 Well, I'm glad that you were able to find someone to be part of you know, your group. Because um, yeah, that can help. Ron 15:09 What I find interesting too is the last thing she said about most people are of Japanese descent. I mean, that's pretty specific Lita T 15:18 Of the...of the...adult and juvenile right. The one that's from birth...not necessarily right? Jean 15:24 Okay. Ron 15:25 So, so Lauren, what was the first symptom or the symptoms that first made you realize... Jean 15:32 or your parents? Ron 15:33 Yeah, it was at birth. Yeah, Lita T 15:33 I guess her parents. Yeah. Ron 15:35 What was the first symptom that made your parents realize that something was different? Yeah. Lauren 15:43 Well, when I was born, I had extra abdominal fluid Ron 15:51 Okay Lauren 15:51 So, I had extra fluid, like in my stomach area. And then basically, they took like a biopsy of skin from me, and my mom, and dad. To test if...to see if anything was...wrong. Or anything? Lita T 16:15 Okay. Well, at least they had an idea. And where to look with it, which is good. Jean 16:20 Yeah. But that's got to be tough. I mean, you know, you have a new infant and here, they're gonna take a biopsy. Ron 16:24 Right, Lita T 16:25 Right. Jean 16:25 Um, Lauren, do you have...do you know if there are any studies currently going on? Either to try to find a cure or improve overall symptoms? Lauren 16:36 I know that my researcher at St. Judes Children's Research Hospital actually has done is done everything that she can do. So, now it's up to the FDA to approve it. Lita T 16:53 Okay, okay Jean 16:55 Okay. Lita T 16:55 So, the research, the research has been done, but it's got to get approved. Ron 16:59 Wow. 10 years. Jean 17:00 Yeah. Lauren 17:01 Which has been taking like a long time to do! Ron 17:05 Right. Lita T 17:06 I wonder if...if because it's so rare. If that's what's causing the delay? Ron 17:11 Yeah. Lauren 17:12 Yeah, that's my guess. But the good thing is, I think my one brother is going to college for genetics. Jean 17:22 Ooooh! Lita T 17:23 Oh, wow! What a...talk about a special...special family bond there. Ron 17:28 Yeah Lita T 17:28 That's wonderful. Oh, wow. Lauren 17:31 Yeah. He wants to find like a treatment because he doesn't...he says he wants me to live life to the fullest! And he doesn't want to see me suffer anymore. So... Lita T 17:48 Amazing. Ron 17:48 Yeah. Hey, Lauren, what..what role, I guess for lack of a better word, self care. What do you do for yourself every day? Lita T 18:01 To help you get through this? Well...yeah... Jean 18:03 Does ice or heat or swimming, you know, pool therapy... Lita T 18:07 Is anything that makes you feel better. Ron 18:09 Right Lauren 18:09 Well, I have a lot of arthritis in my hip especially. So, I like to do like...a warm shower. Or just any swimming or anything is really good for your joints and stuff. Lita T 18:30 Sure Ron 18:31 Okay Jean 18:32 Yeah. actually we just we were speaking with someone a little bit ago. And she designed she's designing swimsuits. Ron 18:39 Adapted Lita T 18:39 Adaptive Jean 18:40 Adaptive swimwear because it's it's such a great Ron 18:45 Need? Jean 18:46 Yeah, they're such a great need. And there's...it's such a great thing to you know, a nice warm therapy pool is very...is fantastic for almost everyone. Lita T 18:55 Right. Lauren...well, you already mentioned that your...your brother wants to go into geneticists...geneti...seas Jean 19:01 Geneticists? Lita T 19:01 I can't talk...not much at all. Genetics to help you. What other help has your family or friends done to ah... Jean 19:11 Along your healthcare journey? Lita T 19:12 Yeah, to get you through your healthcare journey? Ron 19:14 We are all struggling today. Lita T 19:14 I'm just gonna stumble all over my words. Lauren 19:16 Well, I have three people and health care in my family. Jean 19:24 Wow. Lauren 19:24 So, they know a little bit about my disease. Now my mom is a nurse. So, she knows more about my condition than about like anything else. Like she reads up on it, like a lot. And just having like a mom that knows. Like, from like a disease standpoint having a mom that knows what she's doing and stuff...it's really helpful and encouraging! Lita T 20:09 That's very important. Yeah, that's fantastic! Very important. So good support. Jean 20:13 Yeah. Yeah, Lita T 20:14 Right. Could you tell our listeners: what's the best advice that you've heard to cope with having a rare disease? And what advice would you give to somebody that has been recently diagnosed with a rare disease? Lauren 20:30 The best advice for me, I think, cuz I'm very short. Short. I'm 4'3", Lita T 20:41 Okay. Lauren 20:42 So, it affected my growth. So, lots of times my mom would Lauren 20:50 They say: "Good things come in small packages!" Jean 20:54 Awww.... Ron 20:54 (Chuckle) Lita T 20:54 I love that! I love that! Yes, yes. Excellent, excellent. Lauren 20:58 It's something that I believe is good. Like...it's like...common. A lot of people with rare diseases say: "good things can come in small packages." Ron 21:12 Right Lauren 21:12 And just for anybody that's been diagnosed, I would say...so, I'm a Christian...so, I would say that, like, if you weren't supposed to be here, God's the one who created you, and he has a purpose for every...everybody going through hard things in their life. At some point, everyone, everybody is going to go through something hard. It's just, what are you going to do with the opportunity that God has given you? Lita T 21:56 Very nice. Ron 21:56 Yeah. Jean 21:57 We're lucky to have someone out, you know, someone like you out there advocating for others. And, yeah, you're an inspiration! Ron 22:04 That's definitely some great advice. Lita T 22:05 Very nice! Ron 22:06 Lauren, how can our listeners learn more about you? And do you have any social media accounts or anything like that, that you want to share with us? Jean 22:06 Yep, thank you. Lauren 22:17 Yeah, so I have an Instagram account. So, my username is: @stjude819. And then I'm also on Facebook. And I do have, like a private Facebook group on Galactosialidosis. It's where, like people with my disease can go and we can share different things...from...about our disease that will really help other people! Jean 22:59 Okay Lita T 23:00 I will make sure that we put those links on our website so that others can can see those. That's wonderful. Thank you very much for for joining us today, Lauren. Lauren 23:11 You're welcome Ron 23:14 Well, again, we appreciate you sharing your story. I know we've learned a lot and I think the rest of our listeners have also learned a lot about Galacto. Lita T 23:25 Right and good things come in small package. Ron 23:28 Absolutely! That's some grate advice! Lita T 23:30 Yeah Jean 23:30 Well, and I...I think Lita really likes that because she's a... Lita T 23:33 I'm short. Jean 23:34 She's petite too. Lita T 23:35 Yes. Jean 23:36 So um, yeah, Lita T 23:37 I'm the shortest one in the household. Jean 23:38 Yeah. Ron 23:39 All right. If our listeners have any questions or comments related to today's show, they can always contact us at firstname.lastname@example.org also to our website, podcastdx.com. They can reach us on Facebook, Twitter, Pinterest, or Instagram. And as always, please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care providers with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regime and never disregard professional medical advice or delay in seeking it because of something you have heard on this podcast. Lita T 24:27 Till next week.
30 minutes | Mar 2, 2021
This week we are speaking with a Muscular Dystrophy Warrior! Keisha Greaves is a motivational speaker, the founder of Girls Chronically Rock, and the Massachusetts State Ambassador for the Muscular Dystrophy Association (MDA). Girls Chronically Rock (www. girlschronicallyrock.com) offers inspired fashion celebrating Muscular Dystrophy and other chronic illnesses. Over the past few years, Keisha has been featured in Good Morning America, Today Show, WCVB Chronicle, ABC News, Thrive Global, Politico, Improper Bostonian, Boston Voyager, Herself 360, Liz on Biz, among other outlets on and offline. One of Keisha’s proudest moments is being featured In Today Style Heroes among other celebrities such as: Gabrielle Union, Drew Barrymore, Debra Messing and more. Another proud moment of Keisha is being featured on Channel 5 ABC Chronicle sharing her story. She’s lent her voice to audiences at the Spaulding Rehabilitation Center in Charlestown, Massachusetts General Hospital, the Boston Muscle Walk, local “Fill the Boot” events, Cambridge City Hall, and Girl’s Night Out for Muscular Dystrophy – a Boston-area fundraising event held by NextonScene. Keisha spearheaded fruitful collaborations with other notable fashion influencers which resulted in thousands of dollars raised for MDA – the most successful collaborations being with renown designer Sara Campbell and Althea Blackford, the woman behind Caribbean Fashion Week. One of Keisha’s proudest moments happened after working and meeting with Massachusetts Governor Charlie Baker: Keisha got September 30 officially proclaimed Limb Girdle Muscular Dystrophy Awareness Day. She also received the proclamation from Mayor Marc McGovern from the city of Cambridge.
27 minutes | Feb 23, 2021
Rare Disease CAMK-2 Gene
Our guest today is Karen is a wife and mother to 5 children. Her youngest, who is now 13 was born seemingly healthy. In her first weeks it became clear that she wasn't developing normally. After 10 years of looking for a diagnosis and not finding answers, they decided to do whole exome sequencing. That finally gave them an answer. She has a mutation of her CAMK2 gene. It was so newly discovered that only a handful of people were diagnosed with this. Since it has been discovered, more children are being found to be in the family of CAMK2 mutations. It is so new that they are just beginning studying this in humans and there isn’t a formal “syndrome name” as of yet.
53 minutes | Feb 16, 2021
Effects of Agent Orange
Tara Parham, the daughter of a disabled USMCS Veteran, eighty-sixed her 6 figure income career in Government Healthcare and Lean Six Sigma, after falling ill with the first of 3 rare diseases that are associated with her dads exposure to Agent Orange, a dioxin used while he was serving in the Vietnam War. Her goal is to shed light on those who are struggling with the many debilitating conditions from Agent Orange and other Rare Diseases; to advocate for those who are struggling to find Help, their voice, and are unable to advocate for themselves. TRANSCRIPT s8e10- PodcastDx- Agent Orange Lita T 00:10 Hello and welcome to another episode of podcast dx. The show that brings you interviews with people just like you, whose lives were forever changed by a medical diagnosis. I'm Lita. Ron 00:22 I'm Ron Jean 00:22 and I'm Jean Marie. Lita T 00:23 Collectively, we're the hosts of podcast dx. Our guest today is Tara. She is the daughter of a disabled US Marine Corps veteran who had to leave her position in government health care after falling ill with the first of three rare diseases that are associated with her dad's exposure to Agent Orange. It's a dioxide, Jean 00:48 dioxin Lita T 00:50 used while he was serving in the Vietnam War. Her goal today is to shed light on those who are struggling with the many disabling or debilitating conditions from Agent Orange and other rare diseases, to advocate for those who are struggling to find help their voice and are unable to advocate for themselves. Jean 01:12 Hi Tara. Hi, Tara, Tara 01:14 Hi, Ron 01:16 Tara to give our audience some background on Agent Orange. Birth defects are showing up in children of veterans who served in America's military during the Vietnam War. The mil, the military actually sprayed more than 20 million gallons of the powerful defoliant in Vietnam, Laos and Cambodia to deny the enemy food sources and cover 10s of 1000s of American military personnel handled, sprayed or were sprayed by the herbicide. The chemicals in Agent Orange are known to cause a variety of illnesses including several types of cancers, among other diseases. The list of illnesses tied to Agent Orange is posted on the Department of Veterans Affairs website, and they include and I may struggle with some of these Lita T 02:09 good luck Ron. Ron 02:12 Al amyloidosis. Chronic B cell leukemia, Jean 02:18 leukemia, Lita T 02:19 leukemia, Ron 02:19 leukemia. Told you I was gonna struggle Lita T 02:24 mmhhmm Ron 02:24 Chloracne, Is that right? Lita T 02:26 Well, we could try. Jean 02:27 And actually I was just watching there's a Netflix series on now about spies. And one of the individuals who they attempt attempted to assassinate with dioxins has this and it's very, very it's a very visual type thing you can really you can definitely discern that. That's what that is. Ron 02:48 Wow! There's also Lita T 02:51 diabetes type 2 Ron 02:52 Yep. Thank you Hodgkin's disease, ischemic heart disease, multiple myeloma, also non Hodgkins lymphoma, Parkinson's disease, peripheral neuropathy, at least the early onset of it. Porphyria Cutanea Tarda. I hope I got that right. It also includes prostate cancer and other respiratory cancers, such as lung cancer, cancer of the larynx, trachea and bronchus. Also soft tissue sarcomas other than osteosarcoma, Chandrosarcoma Kaposi sarcoma, or mesothelioma. And a group of different types of cancers in the body tissues such as muscle fat, I'm sorry, muscle, fat, blood and lymph vessels, and also connective tissue. And it took decades for the Department of Veterans Affairs to admit that the powerful herbicide poisoned 1000s of their military members. Jean 04:00 And that's right, Ron, Tara 04:01 Yes Jean 04:01 and the children of the men and women that served and were effected by Agent Orange have a possibility of being you know, like the children might be born with spina bifida that's quite common. And that's a birth defect that occurs while still in in utero, and where the spinal cord fails to close at the bottom. And then children of women that served in the same situation have a larger set of possible birth defects that the VA does recognize. And that's because women are born with the same number of eggs, you know, they they carry those with them their entire lives, whereas men are constantly producing new sperm. Lita T 04:37 Right. And we are going to get to our guest in a minute. Tara 04:40 I know Lita T 04:40 I hate to put you off, but we're just trying to save you some of the background information here, Tara, According to... Tara 04:48 No, I appreciate it. Lita T 04:49 (laughter) That's okay. According to the VA that covered birth defects for children born to women who served in Vietnam and the Korean demilitarized zone. Include. Okay, now it's my turn. Ron 05:02 Exactly Lita T 05:03 Achondroplasia, cleft lip and cleft palate, congenital heart diseases. congenital talipes equinovarus Oh, that's called clubfoot. Okay, I should have just said clubfoot, esophageal and intestinal atresia, Hallerman-Streif or Steiff? stryfe Hallerman-Streiff syndrome, boy Jack's gonna have fun editing this one Jean 05:30 Or Dom Lita T 05:31 or Dominic, whoever gets lucky, Ron 05:33 Dominic's shaking his head no. Lita T 05:34 (laughter) Hip dysplasia, Hirschsprung's disease which is a congenital mega colon, hydrocephalus due to aqueductal stenosis. Hypose, hypospadias, hypospadias. We'll say hypospadias, imperforte anus, neural tube defects, Poland syndrome pyloric stenosis, syndactyly or fused digits. Oh, that's like webbed feet. Is that right? Okay. tracheoesophageal fistula? I did pretty good on that one, undescended testicle. Williams Syndrome, Jean 06:24 and we laughed at the fact that we can't pronounce these things. Lita T 06:27 Yeah, we're not laughing at the disease. Ron 06:30 the sad part about is this agent orange causes all of this. Lita T 06:33 Yeah, Jean 06:33 Right, right Lita T 06:34 Yeah. Jean 06:34 And I mean, Tara, you must have become like an, you know, you have to know so much and learn so much. Because these are things that people normally Lita T 06:44 normally don't even think about Jean 06:45 haven't even heard. Lita T 06:46 It's not in our everyday vocabulary. No. So, Tara, (laughter) back to you. Thank you for taking the time to speak with us today. We really appreciate it. Now, can you start our listeners out by telling us what conditions are you personally dealing with? Tara 07:01 Yeah, well, thank you for having me. I'm really grateful to have this opportunity to speak about this. Because, as you just mentioned, all of those conditions that I'm gonna put in, quote, air quotes recognized as being caused by Agent Orange, there are a slew of other conditions. And along with medical research out there that support connections between Agent Orange and these conditions, although they're not identified as being recognized. I myself have just in the past three and a half years been diagnosed with three of those. The first is a vascular necrosis, which I have in both knees, both hips and both shoulders. A Vascular Necrosis is the the first that I was diagnosed with, which is technically called multifocal, because I have it all over. There are many citations out there that support the association between Agent Orange and a vascular necrosis. And the second diagnosis that I had was intracranial hypertension, which I actually caused me to go blind, Lita T 08:17 Ohh! Tara 08:17 completely blind, and I was never supposed to, I was never supposed to see again, ended up having to have a brain operation and a VP shunt, but that it's a central nervous system disorder that affects your your ventricles, your vessels, which is linked to the agent, orange dioxin similar to spinal bifida, Chiari, which there's literature out there supporting the connection to that as well. Lita T 08:44 MMhhmm Tara 08:44 And the third that I was diagnosed with last year was interstitial lung disease, which causes doctors to ask if I've been around birds. But it's not just me. My sister also gets it. And there is also a slew of research out there showing the connection between respiratory conditions, not just lung cancer, respiratory cancers that are related to Agent Orange. And as recently as July 21 2020. There was a research article on that by is on the VA website for lung diseases, saying that additional research needs to be done for the veteran. So if all this research still needs to be done for the veterans, there's still so much that has to happen just for their descendants, their offspring Ron 09:41 Right, Lita T 09:41 Right, right, because I've heard that it's also being passed on to the grandchildren. So it must be doing something Tara 09:48 Yes Lita T 09:48 in the genetic links, right? Tara 09:50 Yes. Yes, it's multi generational, and it can lie dormant for years like mine didn't. It didn't show up until I was 40. Ron 10:00 WOW! Tara 10:00 yeah. And and my sister, my sister was actually born with webbed feet, which they recognized as one of the Ron 10:09 conditions? Tara 10:09 things that correct that can be passed on to descendants. That and she also has the same lung condition that I have. But so we both have it. Lita T 10:18 Wow Jean 10:19 and dioxins are also found in other areas. I mean, it's something that if you're, you know, say your your family wasn't exposed to Agent Orange, but you know, you should be aware of it, Lita T 10:30 like landscapers, are you saying? Jean 10:31 No, like on paper mills, Oh, there they are found in other areas in in industry. And this actually does kind of hit close to home because, um, Agent Orange was originally developed at the University of Illinois as a means to help grow soybeans. And it wasn't it used it Lita T 10:38 as a chemical weapon Jean 10:42 originally, very low doses, and then the military Lita T 10:53 weaponized it basically. Jean 10:54 Yeah, yeah Lita T 10:55 Well thank you, Tara. I think our listeners have a better understanding of what we're going to be talking about now. Since we only discuss one one diagnosis per episode, we would like to discuss your battle with multifocal avascular necrosis, also known as AVN. Perhaps you're willing to come back on another episode and talk about the other problems individually? Would that be okay? Tara 11:19 Absolutely. Lita T 11:20 Great. So we could make this into like a mini series? Jean 11:24 Yes Yes. Cuz I mean, it's, it's Tara 11:26 absolutely. Lita T 11:27 That would be really, really great. Jean 11:28 Yeah Well, and yeah, we can kind of understand that when you when you volunteer for the military. You know, there's a lot of things that you're going to be exposed to that normal, civilians... Yeah. Lita T 11:28 And I don't know if you're aware of, but Jean and I are both veterans. And we always support any veteran activity that's out there. Because it's also supporting us. Jean 11:49 Actually we just, you know, we were just saying this morning that, you know, the vaccine for COVID is not mandatory, they can't really make it mandatory. However, in the military, it would be mandatory, because you're giving away your life for your country. Tara 12:04 Yeah! Lita T 12:04 However, does that mean you're giving away your children's lives, your grandchildren's lives, this is where this topic is going to be important. Jean 12:12 And there is there is the onus on them to keep their personal safe. Lita T 12:16 Yeah. Jean 12:16 And whenever possible, prevent, you know, disease and illness Lita T 12:20 Right Jean 12:20 that kind of situation, Lita T 12:21 right Tara 12:22 Yep. I completely agree. And oftentimes, you know, the military families, the sacrifices that they make when their loved ones are off serving, or the sacrifices, in this case, their health. So I completely agree. Lita T 12:39 Well, yeah, we never would have expected this type of a reaction based on Agent Orange, but now we're learning Jean 12:47 Yeah. And Tara 12:48 I know, Jean 12:49 Tara, can you tell us? What is AVN? And which bones? You said that you have it? It's multi Lita T 12:55 shoulders? Jean 12:56 Yeah. Shoulders in everything? Can you tell us which exact which joints are affected in your body? Lita T 13:01 And what is it Jean 13:01 in? What is it? Yeah, Tara 13:04 sure. Well, avascular necrosis is It's the result of reduction of the blood flows to the bone. I, I have it in both knees, both hips, both shoulders, which basically means my bones didn't get enough of the blood, which caused them to start to die. And once the bones start to die, they don't just regenerate themselves. Now, here's an interesting fact. I was diagnosed with this three and a half years ago, my dad, the veter... the Vietnam veteran was just diagnosed with that three months ago. And Jean 13:41 Oh my gosh, Tara 13:42 and there's multiple, like I said, there's multiple citations out there of so many other veterans and their descendants, who have also been diagnosed with avascular necrosis. But what it does is as the bone dies, it brings the entire joint with it. So oftentimes, it's missed. It's not diagnosed until it's until at a later stage, which makes it a lot more complex. And it's very hard to find. Lita T 14:14 Does it start out? Yeah, the symptoms as they start out, is it does it feel like a arthritic type of a feeling or how did the symptoms start with you? Tara 14:24 Well, what started interestingly, I woke up one morning and I thought that I had twisted my knee and my sleep. So it felt like a torn ligament in my knee. And I ended up going to the emergency room and I was misdiagnosed with bone cancer. Because Ron 14:44 Oh Wow, Tara 14:45 it Yeah, it looks like bone like white specks all in my bones. Jean 14:52 Mhhmm Lita T 14:52 Ohhh! Tara 14:52 And that's the dead bone marks. They're called bone infarct. So I have that as well as, as the death on the end of the bone, which is the a vascular necrosis too. So that was the initial diagnosis. And I, it took me all over the country, I ended up going to Mayo Clinic in Rochester, Minnesota to trying to find a diagnosis and help, which ultimately landed me in New York City at New York Presbyterian, where I found a doctor to do a bilateral hip procedure on me to try and slow down the progression. Lita T 15:31 Okay Tara 15:32 So, and maybe I should touch more on, I guess, how do you want me to touch more on the connection between avascular necrosis and Agent Orange? Lita T 15:42 Sure, sure. Tara 15:45 Okay, hold on, let me get let me get there, my notes... Lita T 15:49 she that's what Jean was saying. You have to become a expert. Jean 15:53 Subject matter expert I think there should be honorary doctorates. Lita T 15:56 Yes. Jean 15:57 For patients like you. Yeah Tara 15:59 Yeah, you have to you have to be your own, like advocate. And that's the biggest challenge especially says it's considered rare. There's not a lot of doctors who actually have the knowledge that you need. So you get Misdiagnosed, and you get misinformation, which causes you to lose time, and your options for treatment diminish. Ron 16:25 Absolutely Tara 16:25 So hold on one second. Sorry. Jean 16:29 And I think Mayo Clinic is very interesting in Rochester, Minnesota, because the weather gets so cold there. I like to call it mole city. I don't know if they would agree with me calling it mole city Lita T 16:39 (laughter) the tunnel. Jean 16:39 But there's tunnels underground that connect the hospital to like the hotels, the hospital to the grocery store, to the library. So you don't have to go out there. freezing cold Lita T 16:49 It's very nice. It's very nice Jean 16:50 It's unique. It's it's kind of fun. Lita T 16:52 Right? Jean 16:53 And there's little shops all along the route. Lita T 16:55 Yes. Tara 16:55 Okay. Here we are. So the connection with the a vascular necrosis, and Agent Orange. So Avascular Necrosis, like I said, it's a result of the reduction of the blood flow to the bone. And Agent Orange has an adverse effect on blood vessels. So there's medical literature, literature that support Agent Orange, and the dioxin is capable of lying dormant and the effects that it has on the blood vessels. So it's actually the result? Yeah, hold on one second. Lita T 17:32 I know I read the word stenosis and a couple of the different results. Tara 17:37 By patients? Lita T 17:38 Right. So stenosis is is reducing in size, so possibly, the blood vessel size is reduced at the at the bone. Could that be part of it? Tara 17:49 Yeah. It's because it's not getting because of that the blood is not flowing the way that it needs to. Lita T 17:55 Right. Jean 17:56 And I guess most people don't think of their bones as first of all even needing a blood source. Lita T 18:00 Yeah, yeah Jean 18:01 but you don't realize that the osteocytes and, and everything inside your bone that you know that there's constant growth in bone and that it's still... Tara 18:07 I know. Jean 18:08 Yeah, because you think it's like set in stone. But really, it's, you know, part of your living Lita T 18:14 body, Jean 18:14 it's part of your body that's, you know, it's constantly Lita T 18:16 most people don't think about it Jean 18:17 regenerating, yeah. Lita T 18:17 Right, right Tara 18:19 It is. And a lot of people also kind of confused a vascular necrosis, which is also called osteonecrosis, but they confuse it with osteoporosis. Lita T 18:30 Right, right Tara 18:32 Like, Jean 18:32 ohhhh, Tara 18:32 Oh, they're like, you have Ron 18:34 brittle bones? Tara 18:34 osteoporosis. I'm like, it's not osteoporosis. Lita T 18:37 No, no Tara 18:39 It's osteonecrosis. And it's completely different. I went through that, initially, to once I found out that it was the a vascular necrosis, it was very challenging to explain to people actually, what it was, who had assumed that it was osteoperosis, Ron 18:40 Right Lita T 18:40 Different Ron 18:40 Right, right you know, as we're talking, I just, it reminds me and this is going way back, when I was in college, I had done a paper on the banning of chemicals and Agent Orange. Jean 19:14 Mhhmm Ron 19:14 It was done like in the mid 70s, or something like that, because they knew it was bad. They just didn't know how bad Jean 19:22 Mhhmm Lita T 19:22 Oh Wow. Ron 19:22 And this is where the stuff that we're talking about now is the result of all the research from that but way back in the 80s when I did this paper, they knew that this stuff was bad and that's why they said no more of these chemicals. Jean 19:39 Well, it kind of reminds me of lead in fuel. Ron 19:41 Mhhmm Jean 19:42 And you know, like to prove that it was perfectly fine, which it's not the someone actually dipped their hands into it, and then later on, developed all sorts of cancers in both arms. But you know, like we I guess it takes time and research and, you know, you have to think about the effects down the road. Ron 20:00 The long term Absolutely. Jean 20:01 And it's not. Yeah, it's a challenge, Lita T 20:03 right? Tara 20:04 Yeah. And I remember reading somewhere that the amount of chemical that was used over there covered the span of I think it was like Kentucky and another state combined. And it was actually the the combination of the chemicals in Agent Orange. The thing is tcdd tetrachloride benzodioxine, dioxin tcdd. It's the chemical group of compounds named dioxins. And that's what makes Agent Orange as notorious as it is. And it's actually considered the most toxic of all dioxins, which is saying a lot, because dioxins are notoriously toxic. So, yeah, it's, um, I don't know, if you guys watched Chernobyl, that show? Jean 21:01 I haven't seen that one yet. It's on my list. Tara 21:03 Oh, I'm wondering how come they haven't done something like this for Agent Orange? Jean 21:08 That's interesting Tara 21:09 I'm like, yeah, Jean 21:10 yeah. And I've been to see, oh, what has it done to the population? Lita T 21:13 in Vietnam? Jean 21:14 Yeah, in Vietnam? Because, um, you know, it's a long lasting chemical. And it's, yeah, it's got to have long term effects. Lita T 21:22 Right. Jean 21:22 Yeah. And then it's also in the environment at large. Tara 21:25 Yep. And there is actually I've read a lot of things about the effects of the what's happening in Vietnam because of this. It's still being in the soil, so... Jean 21:37 And, and there's probably, you know, if your going to have does have research and information, that's probably a good source as well, because they have a probably a greater population from the exposure. And actually, I think that takes us to Ron's question... Ron 21:50 exactly. Can you tell us how common is a vascular necrosis? And actually, how is it treated? Tara 22:00 Sure, so a vascular necrosis is probably anywhere from 10 to 20,000 people a year are diagnosed with it. So in order to be considered a rare disease, it's 200,000 or less avascular necrosis is 10, to 20,000. Jean 22:20 Okay Tara 22:20 So to treat a vascular necrosis and I need to give a plug here, because a lot of my information, Dr. Michael Mont, at Lenox Hill, who has, I was scheduled to have surgery on both knees, both hips in both shoulders in September of this time here, but due to COVID, and all of that, a couple of other mishaps, I actually kind of got sick with my lungs, too. We're postponing it, but he is phenomenal. He is a avascular necrosis guru, let me say that. So a lot of what I am speaking to is from literature that I've read that he wrote and talks about. So as far as treatments go for a vascular necrosis. As I mentioned earlier, a lot of people don't get a diagnosis until later in stage three, to give a little background on this, there is different staging, I guess, models that are used, there's ARCAT, then if you use the ARCAT, there's ARCO there's four stages, the first two stages are only identifiable on an MRI. So most people aren't going to be if you go to the doctor and you have knee pain or something they're not they're going to do an X ray. And when they don't see anything, it's like I don't, you're fine. Most, a lot of times, you don't go for an MRI for multiple reasons. So you don't get diagnosed until the pain progressed, and it gets really bad. Well, it's during those first two stages, where you have the less invasive procedures that are options that could help prolong you, possibly your bone completely dying and needing total replacements and it's becoming mobility issues, as well. So Another interesting fact here, too, and I'm kind of all over the board, but you know, Lita T 24:29 yeah, you know, it turns out to be like a spider web, you know, one thing leads to another but go ahead and take your time. Tara 24:35 I know avascular necrosis, there are a couple kind of well known people that had it A-Rod had it in his shoulder, Mike Napoli. Oh, the Red Sox play for the Red Sox, but theirs were caught. It was caught really early because they had to go through rigorous physical. So they had really high success. But I can't stress the importance of especially If somebody has history of Agent Orange, and they're having hip pain or something of that nature and their knees, hips or shoulders or something, especially if they have underlying health issues that prompts them to need prednisone or steroids, cause that contributes to that. It's like a perfect storm, Lita T 25:24 okay Tara 25:24 with the agent orange to cause a vascular necrosis. So did I answer your question?, Lita T 25:32 Yeah that makes sense. That makes sense. Right? Tara 25:35 I didn't finish answering the question though, Lita T 25:37 no, that's okay. But at least that gives some background. Right. Right. Tara 25:41 Okay, Jean 25:42 well, yeah. And I think, you know, if you go to, you know, your orthopedist, and I don't think you know, is it typical for them to ask you? So did your parents, you know, serve in Vietnam? Are they exposed Agent Orange, it's, if it's not on their intake information, you really do have to advocate for yourself. Lita T 25:58 Right? So the treatments again, the the initial treatments are, are what? Tara 26:06 Okay, there you go. See, I didn't even answer it. Ron 26:09 (Laughter) Tara 26:09 So there's a there's, there's quite a few different treatments for the stage. And it's a little bit controversial, too, because, because it's rare, and most people don't get diagnosed until stage three and four. That means that there's not a lot of people to actually do tests that are trials on Lita T 26:35 Oh Okay Tara 26:35 stage one and two, or phase, the earlier stages. But very popular and somewhat controversial, depending on who you talk to is a core decompression, where they use bone marrow efforts that stem cells. So what accordi compression is, is they take and drill holes into your bone. And they inject stem cells into the bone marrow in hopes of regenerating the bone. Lita T 27:10 Would they be your own stem cells? Tara 27:12 Yes Lita T 27:13 Okay? Tara 27:13 Yeah, yes. But I also have for earlier stages. Do they also do PRP for protein rich? The Lita T 27:21 plasma Tara 27:22 stem cells? Lita T 27:23 Okay. Okay. Tara 27:25 But as far as treatment for the later stages, and that so.... So why I said it was controversial is because some orthopedist will say that, if you have a core decompression, you're kind of wasting your time, because it might buy you a little time, but you're still ultimately going, it's still going to collapse in the long run. And you're still going to have to go through all of the other things. So why even do the core de-compression? Lita T 27:58 So it's just it's just a temporary Jean 28:01 stop gap. Lita T 28:01 A stop gap Yeah. Ron 28:03 How much time? Jean 28:04 Yeah, Tara 28:06 it varies. And it's not always, that's not always the case, I had the bilateral hip core decompression in January of 2018. And I mean, I had tremendous relief after I did, and so far, like, it's, it hasn't gotten to the point to where I would need like to have it again. Like the pain hasn't gotten to that point to where it was before I had that surgery. So it's but there's other people who have had success and haven't had to go on and have any further surgery. So it's, it's not a, everyone will will have to it's there might be some that do and some that don't. And so the some that that do ultimately have to go on and have it that causes them to say that not to have it I don't know. So it is controversial. Lita T 29:05 Okay Tara 29:06 If you ask anybody, you'll get mixed reviews on whether you should or shouldn't. But the the guru, Dr. Michael Mont will tell you yes. To do the core compression, and I'm right there with him. Lita T 29:18 Okay. Tara 29:19 A majority of the time, I guess it depends there are things that so so let me just kind of say this. There's it depends on how much of the articular surface though, is covered with it has dead bones. Like if there's 75% or more, that has dead bone or if it's less light, so there's so many different, "if that, then that" Lita T 29:47 Right, right. Tara 29:48 And so Lita T 29:48 like with cancer, you know, they treat cancer based on how much progression there is, are they going to use radio radiation or chemo? So I'm sure that they base it based on like, you're saying how bad it has progressed, right? Tara 30:02 Correct, correct? Yeah. But that's for the first on the stage one and stage two, stage three and four get more complex. Jean 30:14 Okay Tara 30:14 So you have a variety of different options depending on, like I said, how much dead bone there is, as well as where it's at, where the dead bone is at. I have dead bone. It's 75% on one side, 85% on the other, my hip, and my knees are actually stage three. And my, my, my right, left shoulder is stage three, my right is stage two. And what that means is that some of the more less, the less invasive procedures, maybe don't have a high success possibility. It doesn't mean that it wouldn't possibly work, shall I say? Does that make sense? Jean 31:04 It does, but is is like a replacement of the joint possibility. Tara 31:15 Is the what I'm sorry, Jean 31:16 can can they replace the joints? Tara 31:19 Yes. But you wouldn't do that until stage later? Well, it depends on how much pain you're having to and a lot of it is derived by it by that. But yes, replacing it is an option. So and let me just explain this. This is the best explanation that somebody gave me on how to explain a vascular necrosis. So a vascular, a lot of people think that a vascular necrosis is like your joint. Something happened because you get a joint replacement. But what's happening is picture like whenever they lay of road, paver road, they lay sand down first and then they lay asphalt on top of it. But as you get a pothole, what happens is that sand settles and as the sand settles, then it pulls that asphalt down. So that's the same thing that's happening with the bone as the bone is dying because that's what a vascular necrosis is, is the bone dying as the dying is pulling down and that's what pulls your joint down and all of that, and it pulls all your ligaments and cartilage down and that's why you had to have all of it replaced. Jean 32:35 So it's like sinkholes in the bone. Okay. Tara 32:38 Yeah. Because your bones they're dying and they're, they're collapsing. And so as it does, it's taking everything with it. Lita T 32:45 It's not just the not just the bone at the joint itself, but could it occur anywhere along the bone? Tara 32:55 Yes, I I actually have it that called bone infarct, I have a vascular necrosis at the ends of my bones. And then I have bone infarct, which is dead bone patches throughout the long parts of my bones to which is where a lot of the the cancer that's where the cancer misdiagnosis came because it looks like that it shows up white in the images. Lita T 33:25 Okay, Tara 33:26 but yes, Lita T 33:27 wow, Jean 33:28 yeah, Tara 33:28 for stage three and four, they have multiple different options, like there's an OATS procedure, a vascular graft procedure, ultimately, yes, a total replacement would be, I guess, that I want to say worst case scenario, but before the meet at that age, is a replacement for your hip would only last 10 years. Jean 33:55 Okay, so they try to hold off. Tara 33:56 Now it's actually lasting longer. Sometimes I think it's different if you have a vascular necrosis because the bones especially if they continue to kind of die after you've had the replacement, Jean 34:09 right? Like after the bone isn't. Lita T 34:12 Right. Jean 34:13 Okay. I was just gonna say this, the shaft of the bone is supporting that joint. And so eventually, like, you'd have to place the shaft and the joint itself. Lita T 34:20 Right So Jean 34:21 and you're Lita T 34:22 Why can't they get to the point where they're actually just solving the cause Jean 34:27 the, stopping the necrosis. Lita T 34:28 Right So in other words, like, Jean 34:30 right, Lita T 34:30 feeding the bone with the blood Jean 34:32 Right, Lita T 34:33 they can't. They can't come up with something where they can actually Jean 34:36 I'm sure somebody's researching it somewhere. yeah. Lita T 34:38 yeah, Ron 34:38 Yep Lita T 34:40 Wow. Tara 34:40 Yeah. No, Lita T 34:41 sorry. Tara 34:41 Yeah. Lita T 34:42 Yeah. Are they? I hate to interrupt you, Tara. But are there are there things that you could do to relieve the symptoms or improve your quality of life as you're going through this, you know, like as a person, not medical, Jean 34:58 as an individual Lita T 34:58 as an individual thank you Jean 35:00 No I think, I think we do want medical. Lita T 35:02 Okay. Alright Tara 35:02 Yeah. Well, I can tell you. I can tell you from research that I did as far as exercise goes, low impacts. aquatics is really good. Lita T 35:15 Okay, Tara 35:15 yoga. Another good thing that I found actually has been tremendous for me. Is is keto. Lita T 35:22 What is keto? Tara 35:25 What I eat. Lita T 35:26 Oh, I'm sorry. Okay. I thought it was a new. I thought it was like a karate. (laughter). Jean 35:32 Okay, okay, stop. Lita T 35:35 I'm sorry. Tara 35:36 No. Keto. So one of the things of one of the challenges is, you know, with your bones, whenever you have a vascular necrosis, it makes it really challenging to be able to work out and get exercise or to go on a hike or things of that nature. Because it's kind of like a tire your bones are, the more you drive, the more your tire wears down. And so with avascular necrosis, it's the more that you walk, the more the bone collapses. Lita T 36:05 Sure, sure. Right. Tara 36:08 And so previous literature, I'd probably have to say and there might be some orthopedics that still recommend it, although I wouldn't. That say non weight bearing, like Don't, don't walk, try and limit your, your walking and as much as possible, because that will prolong the collapse. But what I found changing my eating too has allowed me to drop 36 pounds last year. And Jean 36:37 congratulations, Tara 36:38 when I wasn't able to work out and do those things that I used to love to do, like running. You know, Jean 36:47 do you still run in your sleep in your dreams? Is that just me? . Tara 36:52 You know what I do sometimes from from scary PTSD doctors that I've had from my experiences, but yeah, yes, I'm running. Lita T 37:02 Okay. I'm sorry. Is it my turn? Jean 37:05 Yeah, it's your turn Lita T 37:06 Oh okay (laughter) Jean 37:07 go fish. Ron 37:07 Yeah. Lita T 37:08 What? Tara, what role have your family and friends played in your health care journey? Jean 37:13 Yeah. Especially your sister. Um, Tara 37:17 okay. So, my family has been tremendous. Um, my dad and my mom have been my rock. I don't, I would not have been able to make it without them, which I'm not going to go into, like, my past or anything. But it's, it's different from how I grew up. You know, my dad was fighting his demons with the war. But now, he's, he's my rock. Luckily, with COVID because he was in a war veterans home for the past 17 years. And then COVID happened. And I found out that they weren't allowing their workers to wear masks. And so I had him. Oh, yeah. Yep. Lita T 38:02 Oh! Ron 38:02 What? Wow. Tara 38:05 in April. Yeah, I have that recorded. But anyway, um, Lita T 38:10 what state are you in? Oh, what state are you in? Tara 38:13 I'm in Louisiana, Louisiana right now. So, um, I had him discharged. And so he's been able to be here with me. Although it's been extremely challenging with my stuff, but we've been able to support each other. Lita T 38:31 Support each other Right. Jean 38:32 And it's nice to meet your parents again, as adults, Lita T 38:36 Yes Jean 38:36 you know, to get to know them again. As an adult. Tara 38:39 Yeah, exactly. Yes. And so it's been, um, my family has been amazing. is I don't even know how to say this and dance around it. I probably should have prepared better for that question. Jean 38:57 You could leave in skip it, you can skip it Tara 39:00 Okay, Lita T 39:00 Whatever is comfortable for you. And if you want us to edit this out, we could also edit that part out Jean 39:05 sure. Tara 39:05 Okay, well, let me just say this. I fell into probably one of the darkest places of my life that I've ever been in. I am honestly lucky to be alive. There were days that I didn't know if I would make it if it wasn't my health, bringing me to the brink. My physical health, it was my mental health. And so every single relationship in my life was affected. I'm currently where we stand. My mom and my dad are my support system. And I'm rebuilding everything else. Jean 39:44 Okay. Lita T 39:45 Okay. Ron 39:45 Gotcha Lita T 39:46 All right. Jean 39:47 Yeah. And I talk about mental health and physical health definitely go hand in hand. Lita T 39:51 Yes, for sure. Definitely. Tara 39:53 Absolutely. And when you're fighting for your life, you don't have like a lot of the energy to use On those relationships, so work on those. Lita T 40:03 We understand that Tara 40:03 And so everything is affected, you know, Lita T 40:06 we understand that, yeah. Jean 40:07 And you're in your friends and family have to be very understanding you're not able to do the things you used to do. And they really do have to make an effort. Lita T 40:14 Right? Right. Tara 40:15 Right Lita T 40:15 And some people just can't really put themselves in the shoes of another person that has a chronic illness. Tara 40:23 Right Yes Lita T 40:24 And it's difficult. And, you might have to just excuse them and say, well, it's just not within their Yeah. purview Jean 40:33 Purview?. Tara 40:33 Yeah, wheelhouse Lita T 40:35 right. Right. Right. Ron 40:36 Look, this isn't really part of the script. But I'm just curious in you don't have to answer if you don't want to. Have you been able to see someone or talk to a therapist? Or? Tara 40:47 Oh I have a yes. Yes, Ron 40:50 Okay Tara 40:50 I have. I've had a therapist for probably, like 10 years. Um, who? I call her my life coach, actually. Jean 40:59 Sure. Sure. Ron 41:00 Right Tara 41:00 She's Wonderful. Lita T 41:01 Yeah. Anybody with a chronic illness? It's causing pain on a non stop basis, I think, personally, should consider a therapist, Right I know, Ron 41:11 but people look, view it differently. That's my opinion, But people dance around the question Tara 41:11 Absolutely Lita T 41:17 but personally, Yeah, yeah. My opinion is that it's needed. Jean 41:20 Yeah. Tara 41:20 Yeah, they're, they're such that there is still a stigma, in many ways about therapy and mental health. But honestly, there isn't, even if you don't think that you have a mental health, you know, reason to seek help. We all have things that we could improve on, Lita T 41:39 Sure Ron 41:39 Certainly Tara 41:40 and why, you know, why wouldn't we want to? Lita T 41:43 Right Tara 41:43 That's exactly what a therapist would help you do? You know? So that's just my thoughts. Jean 41:49 Oh absolutely Ron 41:50 Some people have that thought of, these are my feelings I hate for anybody else to know what I'm feeling. I'll just deal with it internally. Tara 41:59 Yeah. Ron 41:59 And, you know, again, I mean, people look at it, people view it, people process it differently. I'm in total agreement with what Lita and Jean Marie and what you're saying about, it's great to talk with someone. But again, because of the stigma and all that a lot of times there's people out there that say, I don't want anybody, Lita T 42:19 right, Ron 42:20 know what's going on, Jean 42:21 But it is coming into play in more. For example, like with organ transplant, getting counseling is not an option. Ron 42:31 Right Jean 42:31 It's a requirement, Ron 42:32 right? Jean 42:33 And because they realize that you really you, you need assistance, and you need some help. Ron 42:37 Right Jean 42:37 And it's a big deal. And I think the more and more we integrate health and take it in is part of the whole health package, the better it is for everyone. Lita T 42:47 Right. Jean 42:47 And this way it reduces that stigma Lita T 42:48 better. If we would have started that way back when medicine started, Jean 42:52 right, Lita T 42:53 and said, mental health and physical health are hand in hand. And if you go to a doctor, and you're being seen for something that's chronic, I mean, if it's something that's that's short lived, and the doctor fixes you, there's probably but if it's chronic, I think that you should automatically say, well, because of this chronic illness, you automatically, you know, should go to Jean 43:14 it should be included, Lita T 43:14 right? It should be included. Tara 43:16 Yep. No, I was just gonna say I think there needs to be like some type of chronic illness case manager, care manager, and whenever somebody is diagnosed, that they're referred to that person, and there's information that is given to them based especially based off of that condition, and it includes all of what you're saying. Absolutely Lita T 43:34 right, right Tara 43:35 because there is a huge gap, in many ways on in chronic illness, especially rare disease like that. I mean, it takes a good year for somebody just to get their bearings for any condition, Lita T 43:52 right to process it Tara 43:53 You want to make it a rare, a rare disease, and then that it adds to it because there's only a handful of people who actually have the knowledge that you need in order to find the treatment that you need. And oftentimes you have to travel extensively. I've had to travel across the country and figure out financially how you were going to afford it. I've had to get extremely creative. I found a lot of my doctors based off of research articles that I've read, because there wasn't actually an organization for my condition. So it there's so much that needs to be done in this this arena. But all of what you're saying would be great, too. Lita T 44:37 Well, that leads me to my next question. Tara, what is the best advice that you've received for coping with a rare disease and what advice would you give to somebody recently diagnosed with a rare disease? Tara 44:52 The best advice that I received was you have to be kind to yourself and take one day at a time and I know that That really, it really sounds cliche, because you hear, you know, one day at a time, but you get so exhausted, trying to just trying to find the most simplest thing. And all you want to do is like, just find the answers. And you can't even find an answer. That won't even get on people who are misdiagnosed. But it's really easy to get discouraged, and you beat yourself up over things. So I think that that was the best advice that I received for coping, and that to surround yourself with people who will help you see a side of you that you can't see, Lita T 45:43 like to bring out the positive from you. Tara 45:45 Yeah, well, that will remind you of the good in you because you're going to be struggling really hard. You're not going to feel like that person at all. Lita T 45:54 Right. Good advice. Ron 45:56 Yeah absolutely. Tara, how can our listeners learn more about you? And also about AVN? And do you have any, any social media accounts out there that you want to share with us? Tara 46:11 Absolutely. Um, can I go back and answer the rest of the rest of that question though? Lita T 46:17 Oh sure, go back, backtrack! Tara 46:19 Okay. Okay. So, um, because what advice would I give to someone recently diagnosed with a rare disease is, I would say, research online to see if there's a nonprofit for that condition. One of the best places that I have found support is on social media support group. Facebook has so many support groups, and specifically about the a vascular necrosis support group. That's where Dr. Michael Mont, the one that the avascular necrosis guru, every two weeks, he goes on, he does a live q&a, invite anybody on that support group to participate and ask him any question that you want whatsoever? Lita T 47:08 I love that Tara 47:08 Send him your Yep, you can send him your, your, your discs, to look at it, develop a treatment plan for you do all of that for free? Like he is? Yeah, it's amazing. So for any rare disease, I don't know. I wish my other conditions had that type of interaction. But the a vascular necrosis support group does and it's amazing. So I would definitely start with support groups. Social media, look for the nonprofit, associated National Organization for rare disease Nord, is a place to start to, that will lead you to any nonprofits, potentially, to finding help. And another option is research articles. That's how I found a lot of the doctors that I've met and saw, but based off of who wrote the research article, though, but that was my advice. Lita T 48:13 Okay, thank you. How can we learn more about you then? Tara 48:17 More about me, I will, I will send you my social media contact information. And I am actually starting next weekend. I'm going to start documenting my journey. Lita T 48:30 Oh good Ron 48:30 Okay. Lita T 48:31 like a blog. Tara 48:31 Yep Lita T 48:32 And a blog. Okay, great. Tara 48:33 Yeah. Yeah. Yeah, on a blog. Lita T 48:37 Excellent. We'll make sure that we put a link for that in our website. Tara 48:40 Yes. Because I want to hopefully, share and hopefully I can help others that have maybe experienced the same things that I have. Even especially with the surgery that I'm going to have to have too Lita T 48:54 To get ready for, great, excellent idea. Thank you very much. Well, Tara, thank you so much for taking the time to join us today. And we're looking forward to speaking with you in the future about the other issues that you're dealing with. So we'll be scheduling, we'll be scheduling other appointments for you in the future. Tara 49:16 Great, and I'm like, I got my first podcast down and there's nowhere to go, only improve. Right Ron 49:22 (laughter) Tara 49:22 like I'm only gonna get much better. Lita T 49:24 Yes, Ron 49:25 Oh you did fine. Don't worry about it yet fine. Lita T 49:28 We're gonna definitely Tara 49:28 I didn't even Lita T 49:31 we're gonna definitely be pushing this episode into our veterans network so that other veterans and children of veterans will be aware of this as well. Tara 49:42 I'm going to too and that's why I was going to ask you guys for your social all your social media Lita T 49:47 Sure yes Tara 49:48 because I'd already created like the post and I want to post it and Lita T 49:52 Great, great Tara 49:53 report although although I'm really reluctant because I so I wrote down all my answer, like I've rehearsed it. A lot of what I said is not even on what I wrote. Lita T 50:04 Okay, alright Ron 50:06 Maybe we should do that Lita T 50:07 (laughter) Tara 50:07 I don't know what happened. I don't know what happened. And I'm like, what I wrote is probably like, a lot better than what I said. And I was like, Oh my God, why did you do that? Lita T 50:16 It always goes that way? It always goes that way. The only reason we use a script is, well, I think it's because of me, I have early onset Alzheimer's. And if I don't have a script in front of me, I forget where we are. I forget who we're talking to, I forget quite a bit. So it keeps me focused. And I think it helps keep us from talking over each other. Because when there's three of us on this side of the microphone, talking to you, it kind of limits how much we're talking over each other. So it helps us Jean 50:48 And I tend to ramble. Tara 50:49 Okay Lita T 50:51 (laughter) Ron 50:51 And I guess I tend to interrupt. Jean 50:53 Yeah. Tara 50:56 So if I tell you that I had the script in front of me, will that scare you? Lita T 51:00 No, Ron 51:00 not at all Jean 51:01 no, no, no. Tara 51:02 Ok Cause I had it in front of me. And I still rambled and went off topic. And I'm like, and I didn't even do it. And I was like, Oh, my God, Ron 51:09 You're all good. Lita T 51:10 I'm glad you did, because it turned out wonderfully. Ron 51:13 Yeah, Lita T 51:13 Thank you very much. Ron 51:14 And actually, we do appreciate you coming on the show this morning and sharing your story with us. Quite interesting to say the least. Lita T 51:22 Oh yeah! Ron 51:23 And I'm sure that all of our listeners out there, learned a lot from this episode. Lita T 51:27 I learned a lot. Jean 51:28 I did too! Ron 51:28 And we're looking forward to having you come on in the future to talk about some of the other conditions that you had mentioned earlier. Tara 51:36 Yeah. And I have like, so I have so much better documentation that I could provide? Lita T 51:44 Well, you know, what you could do is you could send me those links through email. Jean 51:48 We can add them to our Pinterest Page Lita T 51:50 When I when I build the website, I don't know if you're aware of this, but you'll get your own page on our website. And then I put links for everything that you would like, on our on your website page. And this way people Tara 52:03 Awesome! Lita T 52:03 can go right there. Yes, Jean 52:05 Yeah And then we'll have a Pinterest page for you as well. And it'll have direct links to any research that you'd like to cite or any documents or articles. Lita T 52:13 Right, right. Jean 52:16 Awesome, so good because I have all of those, like, I have the whole slew of medical, even research and citations and everything Lita T 52:26 exactly Tara 52:26 and even stuff about Agent Orange, so. Lita T 52:28 Right Very important to include. Yeah, Ron 52:32 right. Right, right. Okay, well, thank you again. If our listeners have any questions or comments related to today's show, they can contact us at podcast email@example.com through our website, podcast dx.com on Facebook, Twitter, Pinterest, or Instagram. Jean 52:50 And if you have a moment to spare, please give us a review wherever you get your podcast. As always, please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or a qualified healthcare provider with any questions you may have regarding medical condition or treatment before undertaking a new health care routine and never disregard professional medical advice or delay in seeking you because of something you've heard on this podcast. Lita T 53:09 Till next week.
31 minutes | Feb 9, 2021
Fibromyalgia & POTs
Jason is an engineering graduate who reinvented himself as a podcaster and chronic illness/disability advocate after developing fibromyalgia and postural orthostatic tachycardia syndrome (POTS). He is the host of Discomfort Zone, a podcast featuring immersive stories on chronic illness and disability that showcase our vulnerability, wellness, and resilience. He and his guests find comfort by turning towards discomfort, welcoming it, and laughing at it. Jason is the youngest of three kids and the proud uncle of his nephew and niece. He was born and raised in Toronto, Canada where he currently lives with his Mom and Dad. On occasion, he helps with the dishes and does his own laundry. In his spare time, he can be found throwing grapes in the air, trying to catch them in his mouth, dropping them, dusting them off, and trying again. s8e9 Fibromyalgia and POTs TRANSCRIPT Lita T 00:08 Hello, and welcome to another episode of podcast dx, the show that brings you interviews with people just like you whose lives were forever changed by a medical diagnosis. I'm Lita, Ron is not with us today. Jean 00:20 And I'm Jean Marie. Lita T 00:21 Collectively, we're the hosts of podcast dx. And today's show, we're talking about Fibromyalgia, POTs and chronic fatigue syndrome with Jason Herterich. I hope I'm getting that right. He'll correct me in a minute (laughter) Jason is the host of a podcast called "The Discomfort Zone", and co host of the podcast, "Invisible, Not Broken". He's joining us today from one of our favorite cities, Toronto. Hello, Jason. Thanks for joining us today. Jason 00:35 You are Yeah, thank you so much for having me. I've been looking forward to this. Jean 00:56 Thanks. Yeah, actually, I just saw Margaret Atwood was posted. She was cleaning up trash outside of her, you know, on along the street in Toronto. And it looked a little bit chilly. Lita T 01:08 Yeah, it's it's chilly here too. Jason 01:11 It sure is. Jean 01:12 Well, Jason, before we get into your diagnosis, and that, I'm just curious what led you to hosting your own podcast. Jason 01:20 So it was really organic, how it happened, I had fallen really ill in 2016 and 2017. And one of my friends just suggested that I should get into listening to podcasts, I had become very, very ill. And I spent about 22 hours a day in bed. And I couldn't even handle looking at a TV screen, Jean 01:42 Mhhmm Jason 01:42 because I had such severe headaches. And so naturally, podcasts you don't have to look at, you can shut your eyes, you can just listen to them, you can tune out for a little bit. And I got really, really into storytelling podcasts especially. And they they were really wonderful in the way that they help expand. Essentially, they allow you to empathize with people at a much deeper level. And I really loved that aspect of it. But I realized that there weren't, there was a very low representation of people who are chronically ill, and disabled in storytelling podcasts. So I just sought to create my own. So I got into so I started in 2017, after I started to recover, and I started producing stories about my own chronic illness experience. And I tried to make them just very immersive stories using sound design music and sound effects and everything to really try and engage as many people as possible. And so I've been doing that ever since. Jean 02:46 That's fantastic Lita T 02:47 Yeah, sounds great. Jean 02:48 And what are some of your favorite podcasts at the moment? Jason 02:51 Oh, yeah, I got a whole ton of I got a whole ton right here. Um, yeah, one of my favorite recently has been "Your Hustle". It is Have you guys heard of that before? Jean 03:01 I, I. ehh... it sounds familiar. Jason 03:04 Yeah, so it's a podcast that is produced within the walls of San Quentin penitentiary in California. And I don't know about you. But before whenever I think of inmates, they're often depicted as scary criminals who are devoid of any remorse. But really, when you get to hear their stories, you just get to understand them at a deeper level to empathize with them. And it really leaves you with this feeling that anyone is capable of rehabilitation. So that is one of them. Another one that have been hooked on lately "Unlocking Bryson's Brain". And it is a story of a Canadian man who takes listeners inside his family search for a diagnosis, treatment and cure to his son's rare brain disease. So yeah, it's it's really fascinating as like, this really incredible mix of storytelling, medical mystery, disability rights, and gene editing science. And then And then lastly, "How To Be A Girl" is a documentary of a mother raising her transgender daughter. So yeah, just just to keep this brief. At the age of three, her child told her that there was a mistake in her tummy that and that she should have come out as a girl. Lita T 04:23 Oh wow! Jason 04:24 So it just yeah, it navigates there. As the girl gets older, she starts going through school playdates. And when the mom has romantic relationships, so they just have very raw conversations. And I think the daughter is is my favorite part of it. It just really goes to show how incredibly wise children can be. Lita T 04:49 That's amazing. Jean 04:50 Yeah, those will be adding those three to our list. Lita T 04:52 Oh, for sure. Jean 04:54 Yeah. Lita T 04:54 I love that. Jason 04:55 Yeah I couldn't, I couldn't recommend them. highly enough. Lita T 04:58 Love it. Jason, how do you balance living with a chronic illness? Actually several chronic illnesses and hosting your own podcast? Jason 05:09 Yeah, it's it's an ongoing struggle. What has been most helpful for me is I try to make active decisions throughout the day. So I will leave alarms on my phone to just remind me to pause, whatever I'm doing consciously think about what I will do next and check in with my body see, like, do I need to take a break? Should I go out for a walk? Am I having trouble concentrating? Because usually, that's a sign that my symptoms are starting to kick in? Or, you know, do I have any obligations later in the day that I need to reserve spoons for? So really, it's an ongoing process? I try to get a little bit better at it over time. But yeah, I'm not perfect. (laughter) Lita T 05:58 Yeah, I can.... I can understand that, Jason 05:58 it's something that... I continue to struggle with. Lita T 06:00 yeah, I do the same thing with I use my phone a lot. I have early onset Alzheimer's. And I use my phone constantly to, to remind me to do things. And just to keep me in check and make sure that the day is going smoothly. And I don't end up with anything surprising that really kind of goes be into a tailspin, basically. Jason 06:25 Yeah, yeah. If you use too much early in the day, it can throw you off, Lita T 06:29 right. Jean 06:30 And we also use tech, we have watches that have a light diode that takes your pulse ox and pulse rate on a regular basis. And actually, it vibrates when you're starting when your stress levels are increasing. Or when you've been sedentary too long to kind of give you just that reminder, either to take a deep breath or go take a walk. Lita T 06:50 You Right, right. Jason 06:52 Wow, that's, that's actually incredible. I'm gonna have to get the name of that afterwards from you Lita T 06:56 It's one of the Garmin, I know it's a Garmin, but there are several Garmin, we got it. Yeah, we'll put a link on that for our website, Jean 07:04 or send you a message. Yep. Lita T 07:05 Yep. So Jason, I understand that you've been diagnosed with several different really complicated and difficult diagnosis. Fibromyalgia in itself is rough. myalgic encephalitis horrible. And POT's, could you tell us what symptoms lead you to seeking out medical care? Jason 07:27 Yeah, so this all started out just over nine years ago, it's wild to think it was so long ago, but I was a fourth year student at University studying engineering. And I was very, very active. At the time, I was a triathlete. And, you know, I was about to graduate and had my whole life ahead of me. And then one day during an intramural game of basketball, I caught a rebound, I twisted and pass the ball up court. And in that moment, I strained a muscle in my abdomen called, what is the name of it, intercostal, sorry, brain fog here. I strained my intercostal muscles, and they are muscles that are used for breathing. And so unlike if you break your arm, you can put it in a sling, and you let it recover, and it naturally gets better by itself. But with these muscles, it is really, really painful. And it is it's made even more complicated by the fact that you can't rest and recover from it, Lita T 08:30 Cause you need to breathe. Right Jason 08:32 Yeah, it's not easy to treat at all. And so essentially, I had to take a week off of school spent the entire time in bed. And when I went back to school, I was so far behind that, essentially what happened is I my stress levels were so high from having to work so hard. And my pain levels were already really high from the injury. And when you get pain and stress, the two just build on one another, you're more stressed out because you're in pain and you're in more pain, because you're stressed out. So it creates this positive feedback loop. And so over time, my brain just became sensitized to pain. And I as a result as well, I'm not getting any restorative sleep, so I'm just tired all the time. And so it was something I sought medical care for quite a while ago, but it wasn't until so. So the injury happened in 2011. I didn't receive a diagnosis until like 2014. And so yeah, there at that point, they were really really debilitating symptoms. Jean 09:40 I'm sorry to hear that. Lita T 09:40 And was that basically the Fibromyalgia that kicked in at that point? Jason 09:45 Yeah, it was fibromyalgia and myalgic encephalomyelitis as well. I don't think at that point. My POTs symptoms had begun showing themselves my POTs symptoms. I started to I believe, later on in 2015 is when I started I get dizzy and all that. And yeah, it's it's one of those things where I know a lot of these chronic conditions are interconnected. So you catch one, you're more likely to catch another, and, and so on. Jean 10:13 And so I think because of all the overlapping symptoms, it's hard to get a differential diagnosis. And establish that. Jason 10:21 Yeah, yeah. Makes it a lot harder Jean 10:24 and, and you said it took a while to get that diagnosis. What were some of the tests associated with that? And I hear you have a tilt table story for us? Jason 10:33 I do. Yeah. So I was just very dizzy all the time. And I would find that my heart raced whenever I stood up. And so one day when I was in my neurologists office, he did a quick check. So for your listeners, POTs is characterized by a heart rate increase of 30 beats per minute when you go from lying to standing up. So this was something that my neurologist did a quick check in his office, and I tested positive and this in that test in 2015. And so he referred me for a more comprehensive test called the tilt table test, where essentially, they tap they strap you to a table. And it's, it's slowly adjust from horizontal to vertical. And at that point, my symptoms were very severe when I got in, it was 2016. And just simply lying on the table put me in debilitating pain, even before the test began. I believe my heart rate was around 100 beats per minute, before it even started when Usually, it's around 60. And so they that we started the test, but it's supposed to be a 45 minute test. But 15 minutes in, I was just in such debilitating pain just from being uncomfortable on the board that they actually had to stop the entire test. And I just thought that it was going to be an inconclusive results. Lita T 12:01 Mhhmm Jason 12:01 But they ended up sending a report back to my doctor saying that I tested negative for it. Lita T 12:09 Oh? Jason 12:09 Which, to me is Jean 12:10 Not quite the same thing. Lita T 12:12 Yeah. Yeah. Jason 12:13 It didn't seem right. And I pleaded with the doctor, you know, I said, I explained to him how they had to stop the test early and how my symptoms had gone haywire before they even started the test. But my neurologist, kind of just discounted what I had said, and he accepted the results. And he completely ignored me. And I think I yeah, I believe anyways, it was only a few months ago, or earlier this year, when I just simply redid that very first test when you just simply go from lying to standing up. And I had the heart rate increase. And a new doctor that I've been seeing a cardiac specialist told me that I do in fact have POTs. So I guess the moral of that entire story was that I I guess, I guess the issue was like the rigidity of the medical system and not stressing the importance of the patient voice there, it was very clear to me that there was systematic error within the test that made the results completely meaningless. Jean 13:17 I'm sorry to hear that. I also had a tilt table test. And the technician that was performing my test to get me at a baseline for them to start actually was telling me very interesting stories and trying to keep my mind off the fact that we were there for because I think even going in for their test because it it can be a stressful process. And it is like a disconcerting kind of activity to be going through. A good technician is worth their weight in gold because they can try to keep your mind off the fact that you're there for that test and Lita T 13:57 and she was in pain because Jean 13:59 right Lita T 13:59 we had just flown out to California to Stanford for the test and on the landing or just Jean 14:06 some luggage hit me in the head. It wasn't a big deal Lita T 14:08 just prior to landing the the flight attendant open the hatch on top, from where she was sitting and luggage fell out and hit her. And she had already had a neck and a head injury. So but she was tense. Let's say Jason 14:10 Ouch! Jean 14:23 But it's vital Lita T 14:24 she was tense. Jean 14:25 I think it just shows how important every individual in the medical system is Lita T 14:29 right Jean 14:30 And how much of an eff... you know how much they can Lita T 14:32 put you to ease Jean 14:33 Yeah, they can put you at ease and it takes someone who really cares about the person, you know, to accomplish that and I think we need more people out there that actually care about people and it does it makes a significant difference. Lita T 14:46 I'm hoping that all of the future medical people in the world are listening to this podcast Jean 14:50 we do have a lot of medical students listening Lita T 14:52 Yes, pay attention to your patient Jason 14:55 Yes that really is important. Yeah, paying attention to the to the To the individual not just simply seeing them as as a patient. And yeah, I think I believe I've heard the term white coat syndrome. Lita T 15:10 Uhhuuh Jason 15:10 My mom was telling me how she always used to test really high on blood pressure tests. Whenever she was in the in the, to see her doctor, and that was simply because just the fact that she was getting it tested would always just stress her out. Lita T 15:25 Right Jean 15:26 And it, Yeah. So if you have someone that puts you at ease that that can be very helpful, but inconclusive or incomplete test is not a you know, a completed testing. Lita T 15:35 No. Right. Jean 15:36 Sorry that you had to go through that. Lita T 15:37 Right. Well, I'm glad you finally got it, sorted out. Jean 15:40 Thank goodness, you know, you advocated for yourself, and were able to find a physician that would listen to you as well. Lita T 15:45 That's important. Well, I'm not sure if there are misconceptions about POTs. But what would what do you think the most common misconceptions about Fibromyalgia are? Jason 15:56 I would say that it's all in our heads. I have heard, I've heard that many times. I think that people who are not familiar with chronic illness, have a tendency to discount other people's suffering and their pain and their fatigue levels, simply because it's invisible. And and I think so many people have it in their heads that they just have it in their heads what somebody will look like who is suffering, they mistake what they're familiar with, as acute pain, where it's this very intense feeling. And people are gritting their teeth, with chronic pain, which is something that people have adapted to living with over years and years. And we still experience it all the time. But we're not necessarily showing it. We simply learned to internalize it, and try to focus on how we can best live with it. And then one other big misconception with fibromyalgia. I think a lot of people see it, and a lot of doctors actually think it only affects women. It is predominantly women, but men can develop Fibromyalgia as well. And I'm living proof of that. Lita T 17:12 Right right Jean 17:12 Yeah, we have interviewed other other men with fibromyalgia. And we were kind of shocked to hear that. That's the that's a popular misconception, Lita T 17:22 right Jean 17:23 Because I never imagined you know, that that would be something that would affect. Yeah, but okay. I have two questions for you. How are you currently being treated? And are your conditions? Is there a in the future? You know, do they anticipate that these are things that can be like, Is there a cure out there in the future? Jason 17:42 Yeah, so in terms of being treated, I know it's different for everybody. But what I have found most effective is simply a self treatment plan. So for me, I focus on eating a good diet, lots of vegetables and fruit. I getting the right medication for me that that took many years to find the right one for me, mind being amitriptyline. Everybody, things work differently for everybody. And then also incorporating some mindfulness where I just work, breathing, paying attention to my body sensations, tuning into my body throughout the day. And then, for me movement as well. That's been really huge. For a while I was doing Tai Chi, and I was even doing a waterbase tai chi, they had a program down at the hospital, I went to where we got to go through all the movements in this group atmosphere. And I found that really empowering as well. Just knowing that other you're in the pool with other people with chronic illness, and you're all going through the same thing together. So yeah, just overall that and having a good sleep hygiene, I turned off all my devices an hour or two before bed every single night and I try to just relax, I will even turn off all the lights in my on my floor and just have candlelight so that I can help relax my mind. Lita T 19:09 Well that's good Jason 19:10 So those are Yeah, those are the main treatment plans. And then in terms of fibromyalgia, Fibromyalgia being curable. I know that a small portion of patients do experience full remission. I don't personally focus on curing my illness, it would be really nice if it happened. But I remember my occupational therapist, one once told me not to make dead people goals and dead people can't feel any pain. So I can't if I can't fully control how my pain levels are I try to focus on what I can influence and work to be coming. I guess just work towards improving functionality. And then I've generally found that when my functionality does improve that my pain level usually follow suits as well. Jean 20:02 That's fantastic. Lita T 20:02 Yeah, that's good... Jean 20:03 that's very inspiring. Lita T 20:04 Right Right, for sure. Jason 20:05 Thank you. Lita T 20:07 Do you have any advice for someone that has been recently diagnosed with a chronic illness? Jason 20:12 Yeah, I think finding your social support system is really, really key. For anyone with a chronic illness, it can be very, very isolating. I think a lot of us who are chronically ill have friends drop out of our lives for whatever reason. It's not personal, it's not a reflection of you. And I've just found that it's best to focus on whoever has stayed. And just let them know regularly how much their support means to you and get involved with the online community I found that can be helpful as well. Lita T 20:48 Well, that's good advice. Jean 20:49 Yeah. And it sounds like you've established a really nice rapport with everyone in your podcast network as well. And you guys have a, you know, a great group there and produce some really quality podcasts. Jason 21:03 Yeah, that's been wonderful. Just connecting with so many people connecting with listeners hearing from them. Yeah. Jean 21:09 And what other role have your friends and family taken over the course of this journey? I know your parents have been very important to you, right? Jason 21:18 Yeah, they've been super Jean 21:19 it was a very leading question. Lita T 21:21 (laughter) Jason 21:21 Yeah, yeah. they've they've been huge. My parents. Now I fell very ill, as I mentioned earlier, around 2016. And around that time, I didn't have the ability to even take care of all my medical stuff, like getting prepared for appointments, keeping track of all that stuff, going to pick up all my medication, doing my research on all the different medications or the different tests that I was being sent for. So really, my mom ended up handling, essentially, all of that, in addition to being my full time caregivers for a couple of years, and I mean, even now, I've improved quite a bit. But even now, I have to rely on them quite a bit for meal preparation and other tasks, when I'm not able to handle them myself. And then, in terms of friends, oh, sorry, I should also just mention my I've got a lot of other family members who have been really great, especially my sister, Lisa, she's been amazing and always checked in on me whenever I was really feeling down. And then in terms of friends. I, yeah, I am incredibly blessed in that area too, in that when I was really sick. And there's a period of about eight months where I didn't, I only left bed very infrequently, and was very, very depressed, had thoughts of suicidal ideation, and all that. And there wasn't a span of time of more than two days, when I didn't get a visitor coming by, to just check in on me, and to come hang out with me. It's not the most exciting thing for my friends to come and do and, and sit by my bedside. And often I would barely even be able to contribute to the conversation, it would be them mostly doing most of the talking. So they were really my lifeline. And they were a huge reason why I was able to keep going and until I was able to receive the proper supports to allow me to recover. Lita T 23:31 That's excellent. Jean 23:32 Yeah that's, that's wonderful. I'm glad that you have those people in your life and that they've been so supportive. Jason, with the pandemic and everything that's been going on, you said you used to, you know, be able to go to the gym at the hospital. How have How have things change over the course of the past year? And what modifications Have you made to, you know, still stay active and do things? And, you know, in keep in contact with friends and family, when everything has been in lockdown? Jason 24:01 Yeah, it's been a lot harder. I've been doing zoom like a lot of other people for keeping in touch with people, for just keeping in touch with friends, but I do get zoom fatigue like everybody else, probably quicker than everybody else just due to having headaches and everything. Yeah, in terms of what else? I've been lots of phone calls. I've been doing social distance walks where I'll meet up with friends and we'll just all walk six feet away from each other Jean 24:33 (giggle) Okay Jason 24:33 six feet or more. Jean 24:34 Okay. Jason 24:35 And that's been a really good way to just keep in touch while also getting some exercise getting some fresh air. Yeah, not being able to go to the pool has been kind of tough. That's one of the things I really miss. That was a huge part of remaining social and, and all that and remaining active as well. And yeah, yeah, I've been fortunate I mean, I'm in Toronto here. For a good part of the pandemic, I have been able to have a small social circle. So I've had my brother, his wife and their kids within our social circle. And so yeah, being able to hang out with like a three year old and a two year old as they always make you feel young, and that is really improved my spirits. Jean 25:24 Yeah, there, children can be, and and pets and everything can be a great distraction. Lita T 25:28 Wait a minute, children and pets, you can't ball them up in the same thing. Jean 25:32 Well we do chicken therapy, where we go to see the chickens, Lita T 25:35 yeah we do, we do Jean 25:36 nothing makes you laugh harder than watching, you know, chickens fight over a tomato, because it kind of looks like you know, some sort of weird horror movie and yeah, okay. Lita T 25:45 (laughter) Jean 25:46 Okay, sorry, I'm, we're getting way off topic. Lita T 25:48 (laughter) Jean 25:50 Jason, what additional advice or tips do you have for our listeners. Jason 25:54 So, I would say, to just do your best job advocating for yourself. Or if you can't find a family member or friends who can, or friends who can, our medical system isn't... that the chronically ill often fall through the cracks of our medical system. So unfortunately, you do need to do some of that work yourself in terms of do your research before appointments, come prepared to every appointment with a summary of your recent medical history, and any questions you have for your doctors and any potential tests that you'd like to request. So you really have to become your own advocate there. And another thing is just find something that makes you happy, I know that our lives don't look the same way that they did prior to becoming ill. But it doesn't mean that I guess over time, we can develop the ability to adapt and find joy in different ways that we never could have imagined before becoming chronically ill. So yeah, find whatever, do whatever makes you happy. Lita T 27:08 That's great. Jean 27:09 Yeah wonderful advice Lita T 27:10 right. Have you always lived in Canada? Jason 27:14 I always have. Yeah, Jean 27:15 You can hear from his accent Jason 27:16 I live with my parents. Lita T 27:17 No, no, I was just curious. Because, you know, like, now we're kind of comparing apples and oranges, you know, the medical system in the United States compared to the medical system in Canada. And I think that we have the same problems here. And it is very important to always go to your doctor's office prepared. And like you're saying, do your research ahead of time. Because you know, you go to a doctor's office nowadays, and you're given like a minute and a half, Jason 27:44 Yeah Lita T 27:44 you know, you don't have a lot of screen time with your doctor. Jason 27:47 Yes Lita T 27:47 So you have more you can do ahead of time, the better. Jason 27:51 Yeah, and I've noticed that doctors really appreciate it when you can give them like a 30 second briefing on everything that's happened with with your health, since they've last seen you it's a way for them to digest everything really quickly, and then be more efficient with your time. So I think that they really appreciate it as well. Lita T 28:11 Right. Right. That That could be a career field. Jean 28:14 Well, and I think Lita T 28:15 No, I mean, like just just in order to teach people how to go to the doctor, Jean 28:20 right? Well, maybe it could be included in your high school health class. Lita T 28:24 Right. Okay. (laughter) Jean 28:25 And I think nowadays, a lot of technology can also come into play where you can track your, you know, your headaches, and you can track your symptoms, and you can actually give your your physician or healthcare provider an actual, you know, a synopsis and a screenshot of what is actually happening with you on a day to day basis, because when it is a chronic illness, I think it's hard to quantify it. And I think Jason 28:34 Yeah, Jean 28:48 and things can help. Jason 28:50 I think that stuff is is so great, too. And I've noticed, I noticed that before I started doing any of this, like tracking my medical history, I would go into an appointment. And so often, it would depend what I would say to the doctor would depend on how my day was going. If I was feeling depressed that day, it would just seem like everything is so completely bleak. And I would send that message to the doctor, whereas like, they would get a much more accurate depiction of what my recent medical history was if I was able to Yeah, like as you were saying, go in with any kind of metrics or anything that you've been tracking over time. Lita T 29:26 Sure, sure. Well, Jason, how can our listeners learn more about you and your podcast? Jason 29:33 Well, they can listen to my podcast "Discomfort Zone" on whichever podcast app they use. They can also go to "Invisible Not Broken dot com" to find my podcast, as well as all the other shows in our network and you can find me on social media. My handle is D Zone Podcast. Lita T 29:52 Okay, excellent. Jean 29:53 And you guys have a wonderful website and a well rounded collection of podcasts. So we're very impressed. And we're hoping to one day grow up and be more like you. (Eh Ha!) Maybe? (laughter) Well, at least Jason 30:06 You guys are great the way you are. Lita T 30:08 At least we're staying active. Jean 30:09 Yeah. Okay, Lita T 30:10 mentally. (laughter) Well, Jason, thank you very much for taking the time to talk with us today. Jean 30:15 Thank you, Jason. Jason 30:17 Thank you so much for having me. Lita T 30:18 You're welcome. If our listeners have any questions or comments related to today's show, they can contact us at podcast firstname.lastname@example.org through our website, podcast, dx.com and Facebook, Twitter, Pinterest, or Instagram. Ron 30:32 Please keep in mind that this podcast is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment, and before undertaking a new health care regime, and never disregard professional medical advice or delay in taking it because it's something you've heard on this podcast Jean 30:57 till next week.
34 minutes | Feb 2, 2021
Fibrodysplasia Ossificans Progressiva
Kim Shields is 38 years old and just finished her masters in social work program. She was diagnosed with FOP at age 15, but it has mildly affected her throughout her life. She is a wheelchair user, but she doesn’t let that slow her down. She is working on a plan to open a nonprofit in the future to help with access issues for those with disabilities, specifically wheelchair access, but will fight to help anyone with a disability get access to housing, employment, and transportation that meets their individual needs to be as independent as possible. __________________________________________________________________ Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and skeletal muscles. Specifically, this disorder causes the body's skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible. Patients with FOP have malformed big toes that are present at birth (congenital). Other skeletal malformations may occur. The abnormal episodic development of bone at multiple soft tissue sites frequently leads to stiffness in affected areas, limited movement, and eventual ankylosis (fusion) of affected joints (neck, back, shoulders, elbows, hips knees, wrists, ankles, jaw - often in that order). Episodic flare-ups (inflammatory soft tissue swellings) of FOP usually begin during early childhood and progress throughout life. Most cases of FOP occur as the result of a sporadic new mutation and the genetic mutation that results in this disorder has been identified. FOP is caused by the mutation of a gene (ACVR1) in the bone morphogenetic protein (BMP) pathway, which is important during the formation of the skeleton in the embryo and the repair of the skeleton following birth.
Terms of Service
Do Not Sell My Personal Information
© Stitcher 2021