Listen Now

Thank you for joining us for the first rare disease anonymous meetup. On this episode we talk to fellow podcaster and rare parent Gary David about the uncertainties of raising a rare child. Gary has used his experience as an adult child of an alcoholic to better himself as a parent, partner, professor, and person. He began attending 12 step recovery meetings over 6 years ago, and the connections between his experiences growing up and his experience raising a child with a rare disease are impactful. Together, we discuss the powerlessness of being a parent to a rare child, the importance of focusing on your reaction, and the importance of self-care while doing so. Listen along as Gary describes to Sanath the similarities between the popular show Naked and Afraid and meeting his own needs as a parent and where he needs to put his focus first. Think building a house in the forest instead of feeling as if you need to fight off the forest. One of those needs is the importance and power of connections formed with people going through similar realities (Al-anon, parenting a child with rare disease, sports, etc.) As you are able to connect with a community based on common ground, it strengthens you. Thank you for joining our first meetup. Please keep coming back. If you are interested in taking part of a rare disease anonymous meetup, please reach out to us, Podcast@salemoaks.com . To learn more about Gary or listen to his podcast, please visit www.garycdavid.com . We look forward to sharing our stories and connections with you again next season.

From what they had for lunch to some of Kevin’s most meaningful moments. In this different episode, Sanath and Brittany ask Kevin about his experience at the 2022 Global Genes Patient Advocacy Summit. While we all planned to meet there, it just was not in the cards. Kevin recorded the episode on location from the Town & Country resort in San Diego. This year’s Summit was the first in-person one since Covid. The experience of being back together was powerful. There were a lot of new people in attendance. And we got to reconnect with old friends. The tone of the conference was much more patient- and caregiver-centered than before. Sessions about mental health, relationships, and managing life with Rare Disease. We hope this fun discussion gives you a feel for the power of the Global Genes Patient Advocacy Summit. More importantly, we hope is encourages you to start making your plans to be there in 2024.

We spoke to Casey McPherson during the recent Global Genes Patient Advocacy Summit in San Diego. Casey’s daughter Rose has HNRNPH2 (www.tocurearose.org ) He has made the extraordinary step of starting his own lab. Even more wonderful is that this lab is committed to providing a more efficient, accessible lab capability to other parents looking to find a treatment for their kids. This lab has become www.everlum.bio that offers preclinical services without the bureaucratic hurdles and delays. Casey is a very creative guy, a songwriter and musician that has toured the world. He has now become the Chief Innovation Officer of Everlum – the guy with all the crazy but brilliant ideas. He knows he needs a team of other creative experts around him to make them a reality. “You know not that you know not... so you surround yourself with people who know the not that you do not know.” The problem that he is trying to solve is so obvious that it is drawing talented people toward him.

When we first met, Raghav was just one year old, and they had just gotten his diagnosis. That was 3 years and 50 episodes ago. Raghav is now 4 years old and Sanath has started a new non-profit organization called Open Treatments. In this episode we talk about both. The birthdays bring a lot of emotions. Each one is precious. At the same time, today’s technology brings back all the memories leading up to his birth and then the first weeks of his life. Happy highs and scary lows. Open Treatments started with very high expectations to address some of the biggest challenges to developing treatments for kiddos like Raghav. Sanath has learned that there are such fundamental pieces of the puzzle missing that it is impractical to solve the bigger problems yet. He has deftly pivoted Open Treatments to focus on one of the simplest problems – counting. He explains how the Chan Zuckerberg Foundation helped him sharpen his focus and eventually fund the work. The result, the Open Treatments Connect project.

What a great way to introduce our “Comparing Notes” occasional series. Who knew talking about g-tubes could be so fun? The day you hear that your child has a rare disease your life changes. And the changes just keep coming. From dietary changes, to feeding tubes, to school, and even additional diagnoses. These lead to even bigger changes like moving from one state to another to find the right specialists, coverage, and services. Brittany and Sanath have been through many of these transitions. While they have come to expect the unexpected and are getting better at managing these life changes, it is still very hard. As they share their stories, you can sense the strength they are giving each other. They know each other “gets it” and that allows them to talk about the practicalities and the deep emotions of making transitions as smoothly as possible. And they both find positives when they get through each transition. We hope they help you do the same.

The impact of having a rare child can be overwhelming. Parents can find themselves in a dark place and defeated. We welcome back Brittany Ratke who found herself in that place and was struggling. Fortunately, she learned about a fantastic group called Angel Aid that provides support and teaches self-care skills for rare moms. Brittany decided to apply to the M.O.R.E. program and raise the funds to attend. M.O.R.E. stands for Mothers Of Rare Experience. This virtual program brings moms together to build relationships, learn how to take care of themselves, and experience different types of therapy. The program lasts for six weeks including weekly meetings and events. The types of self-care included meditation, music therapy, and even equine therapy. These shared experiences have the remarkable ability to help these moms feel like they belong and gives them the opportunity to bring their best to the situations they have with their kids. And it was all done virtually. This experience has clearly lifted Brittany. It has given her incredible empowerment and optimism as wells as hope and connection with lifelong friends. And all this happened through Zoom. You can learn more about the programs Angel Aid provides at www.angelaidcares.org We also have some news about Brittany and Raising Rare in the future. She brings a different story and a different perspective that enriches our conversations. We hope our listeners will enjoy and learn as much from Brittany and Everleigh as they have from Sanath and Raghav.

Just imagine a world where every single newborn is screened for all known genetic diseases. In part 2 of our discussion with genomic scientist and rare dad Mike Hu, we discuss Project GUARDIAN, his effort to provide Genomic Uniform Assessment of Rare Disease In All Newborns. This visionary project could help reduce the emotional, physical, and developmental pain for millions of people. We know that newborn screening is one of the most powerful means of identifying children who will need special care early so that care can begin right away. But fewer than 100 diseases are currently included in the most advance newborn screening panels. There are more than 7000 rare diseases. In the past 15 years, only 7 diseases have been added to approved list. At this rate, using the current technology, it will take centuries to have a complete panel approved. There has to be a better way. Mike has an idea for how to approach the problem differently. In this episode he talks about the underlying issues with the current protein-based tests, the challenges of changing to a new technology, and the enormous benefits individuals, families, and society at large would gain. mike@project-guardian.org

In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2. MPS2 is also known as Hunter’s Syndrome. I first connected with Mike during a Rare Disease Week session in which he talked about a truly visionary project. We often speak with parents who find themselves thrown into this world of rare disease absolutely cold with little or no training or experience in the world of genetics, biology, and scientific endeavor. This is certainly NOT the case for Mike. MPS2 leads to a wide variety of symptoms and issues. Mike’s are a few years apart, but they were diagnosed at about the same time. Because of this, Hunter’s Syndrome has affected them differently. Fortunately, there is a therapy available, and they were able to start it right away. They also were able to enter a clinical trial to test an intrathecal formulation. Their responses to that therapy and the typical delay in diagnosis they experienced for the older boy has led Mike to turn his professional skills to transforming newborn screening – but we will hear more about that next time.

Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born. Because early ultrasounds showed that she had some signs usually associated with Down’s Syndrome, they decided against further pre-natal testing. When Everleigh was born, it turned out that she did not have Down’s Syndrome after all. However, after two or three weeks, Brittany was not feeding well. In fact, she was unable to retain anything. She was not growing, and in fact she was losing weight. Thus began a nearly 4-year diagnostic journey. Fortunately, they live close to the Mayo Clinic and were able to get care from some extraordinary professionals. It turns out that Everleigh has a unique variant of SETD5, a gene that controls several other genes. Please listen to how this diagnosis has helped Brittany connect with other parents and the ups and downs of being part of such a small community. Spoiler alert: We will be getting to know Brittany and Everleigh better in future episodes.

Have you ever been listening to a podcast and wish you could suggest a question for the interviewer to ask? You know there is something else you want to know but the conversation just seems to miss it. We have and we wanted to try something new to address the issue. Recently, Sanath put out a request to ask him anything with the promise we would answer as many as we could on our show. It was a bit scary, not knowing what we might have signed up for. But a commitment is a commitment. In this episode Sanath address a few of those questions. How to give it your all to help your child with an ultra-rare condition when you don’t know where to start? Any treatment for kids with Sanfilippo Syndrome? Can I get access to clinical trials? https://curesanfilippofoundation.org/what-is-sanfilippo/ Parenting I so hard but parenting a rare disease child is even harder. What can the community do to help? How do you manage emotional and mental toll that comes with raising a rare disease child? These questions gave us a chance to talk about other important issues like risk, access, and the inherent issue of our healthcare and support systems. If you like the “Ask Me Anything” format, watch for future requests for questions.

Last year, Sanath started a huge undertaking to sift through more than 4000 existing drugs to find any that might help Raghav. This high-throughput screen looked at all sorts of medications with the hope that one or more would show unexpected activity in Raghav’s very cells. And they found one. It was an approved and marketed drug, which meant it was possible to obtain. But you cannot just go grab prescription only drugs from your corner pharmacy for anything you want. The drug is designed to treat the inflammation associated with asthma – not exactly Raghav’s situation. And in this case, Raghav could not take the tablet form or the dose that is generally available – additional specialized pharmacy work had to be done. All of this is costly, and they were not sure if insurance would pay any part of the bill. In this episode we talk about how Sanath and Ramya approached each of these hurdles. Salem Oaks uses riverside.fm to create Raising Rare. (c) Salem Oaks 2022

As we launch Season 3, we learn about some exciting new developments for Raghav over the past few months. Some huge milestones were met while we were on our hiatus. You will need to listen – no spoilers here. We also looked back at Raising Rare in 2021. The beauty of reflecting on our last season is that we realize how much happened and how quickly Raghav’s situation can change. More than that, we can remember the important lessons we learned from our guests, our discussions, and the twists and turns of life. We continue to try to help our listeners find hope through the podcast. We are very excited to be starting our third season and look forward to exploring new topics in 2022 that are important to the Rare Disease community.

For two years, we have shared the amazing story of Sanath, Ramya, and their baby son Raghav. They have started a non-profit, held a scientific conference, raised funds, started an experimental drug, and even commissioned research to screen over 4000 compounds for potential use. And they have learned how to manage Raghav’s daily routine. All that changed in August. It was a normal day, maybe even a better morning than most. Raghav was taking a nap when they noticed something was wrong. Something was very wrong. Raghav was turning blue. And real fear entered their lives for the first time. This fear has changed their perspective and once again shifted their priorities. We have now completed our second season of Raising Rare. Given the changes in Raghav’s condition and in the life of Sanath and Ramya, we are going to take a break until January. Please send us feedback about what you want to hear on Raising Rare to Podcast@SalemOaks.com

We have been able to share some exciting news in the last two episodes. Sanath and cureGPX4.org commissioned a High-Throughput Screening assay to look for compounds that improve the growth of Raghav’s cells in culture. Then we heard the exciting news that the assay found 116 hits, 43 of which are already approved for other conditions. Sanath has pulled together a team of experts to help him sift through this list of compounds and develop a plan for systematically assessing the various properties of these compounds. This is where the hard work begins. Approved medicines will have loads of data describing these properties. But there is much less data publicly available for investigational compounds. Either way, the decision about what to try next is not going to be easy

Since the moment they got the diagnosis of Sedeghatian-type spondylometaphyseal dysplasia (SSMD), Sanath and Ramya have been on a relentless quest to find something to help their son Raghav. They have tried some off-the-counter supplements. They worked with a small biopharma to write an IND to get access to an experimental compound. And recently, their non-profit CureGPX4.org commissioned a high-throughput study (HTS) of roughly 4000 compounds. In this episode, we hear the results from that study. The whole theory behind HTS is 'shots on goal'. The more shots you take, the more likely one of them will score. In the biopharma industry, HTS is done at an industrial scale with literally millions of shots on goal. Because SSMD is so rare, they have no idea what to expect from this relatively small sample. This is groundbreaking work. And no matter what the results show, the work continues. Decisions will need to be made about what to try next. This is the episode you have been waiting for.

Progress. All rare disease parents want to see progress in the search for a treatment for their child. In the past two years, Sanath has worked diligently to make that progress happen and it is beginning to pay off. When we started Raising Rare, our goal was to follow the story of baby Raghav and his parents Sanath and Ramya. A second goal was to help other rare parents learn from their journey. One part of this journey is the process of scientific research. Two years ago, Sanath had no exposure to this process and even had to look up the definition of a gene. In this episode, he sounds like a seasoned researcher. He takes us from where they started, hoping to repurpose an existing drug, through the first few treatments they tried, and finally to the program they have established to look at the potential of thousands of medicines. It is a high-throughput screening program that will help them determine whether any of these medicines will help Raghav’s cells grow. We even discuss how artificial intelligence is transforming the way that these types of experiments can be run. Oh, how far he has come.

"If all you do is take care of your child, you are doing it right." Daniel DeFabio In part 3 of our series with the founders of The Disorder Channel, Daniel DeFabio and Bo Bigelow, we learn how their partnership began and how it has grown. Their story is one that has several chapters. We talk about how every family affected by a rare disease has their own unique story but in some ways it is the same story. When both Daniel and Bo found out their children had a rare disease, they followed the same path many familes do. FIght for the child, learn to advocate on their behalf, and then finding a new unexpected life. For these two Dads, they followed thier skills, and passions to create two mainstays of the rare disease world, Disorder - The Rare Disease FIlm Festival and The Disorder Channel on ROKU and amazon Fire However, they were quick to point out that not everyone can or should take their advocacy to such lengths. Some people are comfortable telling their story publicly. Others are more comfotable fundraising. Others lend a hand where possible, And still others just need to pay attention to the kid right in front of them. ALL of these are OK. The point is that being thrown into this situation will help you clearly discover what you were meant to do.

This is part two of our 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet. You might think that a few high-powered media moguls are behind it all. Not quite. Daniel DeFabio’s son Lucas was an injection of joy in their lives. No matter what the circumstances, Lucas would laugh and remind them not to sweat the small stuff. As Daniel says, “It feels like… [he is] clued into a better way of existing.” Lucas had a copper transport disorder known as Menke’s Disease. Because of Menke’s disease, his hair was kinky and brittle, he was non-verbal, and his life expectancy was only 3-10 years old. He beat the odds and lived until he was 11 and a half. Sadly, he passed away in May of 2020 in the midst of the COVID pandemic. Daniel focuses on the quality of the time he had with Lucas, not the length of his life. He even finds a silver lining in the quality time he was able to spend with Lucas because of COVID. His generous, gentle, and optimistic approach to having a son with a rare disorder is very inspiring and comforting.

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected.  The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet.  You might think that a few high-powered media moguls are behind it all. Not quite. On today’s show, we are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome.   The thing is, there was no such thing as Hao-Fountain Syndrome a decade ago.  All they knew was that their sweet daughter seemed to be falling behind. Something was wrong.  As Bo transitioned from commuting 4 hours a day to a work-from-home Dad, he began to see Tess’s struggles firsthand.  This began a search for what was going on.  They were unable to get a correct diagnosis based simply on symptoms. They had her genome mapped and were finally able to name the mutation that was causing her problems, USP7.  No disease name.  No course of treatment. No new prognosis.  Just USP7. Using that tiny bit of information, Bo sent a signal to the world looking for help.  You’ll need to listen to the show to hear what he did and where it led.

A cough.  A sniffle. Telltale signs of the common cold. For little Raghav, his life was suddenly in danger.  In one of our most heartfelt episodes Sanath tells us about their very scary trip to the hospital when Raghav developed a serious and persistent cough.  For most of us and our kids, a common rhinovirus is annoying and may last a few days.  For Sanath and Ramya, the stakes are so much higher.  They found themselves in the PICU for more than a week.  The toll this takes on them is immense.  Sanath opens up and shares how this burden is weighing on their mental health.