Raising Rare

In Part 2 of our discussion with Terri and Billy Ellsworth we talk about the experience of being in a clinical trial for Duchenne Muscular Dystrophy.  We hear from Billy – his memories and his perspective.  It was a chance of a lifetime, but it was scary for 10-year-old.  Billy talks about bonding with the other boys in the trial. 

We also talk to Billy about his interests and what he has done since the clinical trial.  He has been fortunate because the exon-skipping drug worked well for him.  Even though he still gets weekly treatments, he is just a regular young guy.  However, he has an appreciation for the everyday things he can do without assistance. 

Terry also shares how she found herself doing more and more on the advocacy front.

Recently we had the honor and joy of speaking with Terry and Billy Ellsworth, a mom and her son who has Duchenne muscular dystrophy or DMD as part of series on families that have made it to the other end of the tunnel.  They were on the front lines of research that has now brought hope to some boys with DMD, including Billy himself.  In this episode, we hear about the diagnostic odyssey that eventually led to Billy participating in a clinical study. 

In part one of this interview, we hear exactly how Billy was diagnosed and how Terri’s intuition told her it might be DMD the first time they noticed Billy was having some issues.  In part one, we focus on Terri’s side of the story.   She uses the phrase “fast forward” quite a bit which emphasizes just how much time is spent waiting for progress.

In part two, we will pick up on Billy’s perspective and his memories of participating in a clinical trial.

Their story is remarkable because the drug Billy received in that clinical trial has drastically changed the progression of his DMD and because he was at the right age at the right time to be enrolled.

The costs of raising a rare child are daunting. Last time, we talked about the medical costs. In part 2 of the conversation, we are going to go a little bit deeper.  We are going to discuss the impact on Sanath and Ramya’s lives, their mental health, and their relationships.

In addition to the impact on their lives, Raghav’s condition takes away from their time at work and the contributions they can make. This could prevent them from advancing their careers. Fortunately, their employers have been especially good at accommodating their needs and providing them the flexibility they need. 

This is one of our shorter episodes, but we think you will agree that it is one of the most important. 

You can listen to Raising Rare directly or subscribe on iTunes, Spotify, Google Podcasts, YouTube, Facebook and more. You can follow us on twitter @Raising_Rare

Please donate to https://cureGPX4 or support Salem Oaks prodiction costs at https://patreon.com/salemoaks

Raising a child with a rare condition can be difficult and very costly. 

The Everylife Foundation released a report in February 2021 that showed the overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year. That is an attention-grabbing number. But what does it really mean? We explore this question through Raghav’s story.

Talking about finances can be uncomfortable and difficult. However, following a recent summary from their insurance company, Sanath had the opportunity to tally up the costs and he thinks it is important talk about them. It was relatively easy for him to look at the medical costs because there was a clear paper trail. He breaks down those costs and you may be surprised by what he found.

Next time, we will discuss the multiple unseen and unappreciated indirect costs that he and Ramya must bear.  

When Nicole Horvath was born, she had a terminal disease, and no one knew it. If they had known, they would have given her only 18 years to live. 

When she was 20, she had to drop out of college because she was showing severe symptoms. This is when she finally got a diagnosis of cystic fibrosis (CF). At that time, all they good do was use physical therapy and nebulizer treatments to loosen up the mucous in her lungs. The goal was to reduce the number of infections. Luckily, the life expectancy for CF had increased to 32 years.  

Ten years later, she learned about a clinical trial and began a routine of traveling across the country to get experimental treatments.  And this is when her life began to change… miraculously.

Please tune in to our occasional series “The Other End of the Tunnel” and hear Nicole’s story about living in that tunnel.  

Sanath Kumar Ramesh – Rare Dad, Founder & CEO of Open Treatments, and Podcaster

The quest for treatments for rare diseases is challenging under the best circumstances. For ultra-rare diseases like Raghav’s, the system is just not built to find and provide treatments for nine patients. There is no viable business model. There is no regulatory pathway for approval when it is impossible to run clinical studies that can show statistical significance. If there is no approval, then insurance companies and even governmental payers like Medicaid are not going to pay the bill. Even if one could find a way to pay, how do you produce the medicines that emerge in such small amounts. 

This is the world that Sanath has been wrestling with since Raghav was born. Now he is doing something about it. He and his team have launched Open Treatments, an organization with a platform to make research and the R&D process accessible to families fighting these ultra-rare conditions.  The idea is to decentralize the research enterprise to individual diseases by pooling and sharing the tools, skills, processes, and knowledge about finding promising treatments. The vision is to find the treatments they need now and enable the hand-off of these treatments to commercial, governmental, and philanthropic entities that can ensure patients around the world have access to the therapies for years to come. 

In this episode, Sanath explains the origins and future of Open Treatments. (www.opentreatments.org )

Please support Raising Rare and the search for a treatment for Raghav by donating to Cure GPX4 

In this short episode, we talk to Sanath and Ramya about the importance of relationships. We talk about their relationship with each other, Raghav’s grandparents, and some close friends. When faced with the challenges a child with a rare disease brings, they have found that these relationships are essential to get them through. And we also explore how the common goal of finding a treatment for Raghav has impacted those relationships.  

This is a replay of one of our favorite episodes.

Sound Design and Music: Jacob Tompkins

Graphic Design: Ramya Ramaswamy

In Part 2 of our powerful interview with author Miguel Sancho and his wife Felicia Morton we talk about the myriad decisions that parents raising a child with a rare disease must make. Their son was born with a severe immunodeficiency known as chronic granulomatous disease (CGD).  The decisions range from the ones we cannot imagine having to make to the common decisions we all make.

Renowned experts provided input but the decision to take the drastic step of an umbilical stem cell bone marrow transplant fell to them. This forced them to make a series of “life-event” decisions: where to live, career choices, and schooling for their healthy daughter. 

Piling these decisions upon each other led to emotional strain which could have led to decision paralysis. They learned that there is a difference between knowing what you have to do, and then actually doing it.

We talk about the biases that we all bring to making decisions.  Felicia felt like she could not watch her child go through the procedure until another mom told her, “You can do this. You will do this.”   Miguel just wanted to avoid disruption in their lives.  He had to get past this for them to do what was need. 

This couple has dealt with this experience in their own distinct ways. Miguel wrote a book, Felicia started a nonprofit. Control what you can. Get more information. Try to let go of the control. We get a chance to hear more about CGD Association of America, an advocacy that Felicia has started to support families through this forest of decisions.

Please order Miguel’s book today, More Than You Can Handle:

A Rare Disease, A Family in Crisis, and the Cutting-Edge Medicine That Cured

the Incurable

We have all heard the inspiring stories of a family that suddenly faces the trauma of a rare diagnosis, become advocates for themselves or their child, finds a solution, and celebrate the triumph. This one is different. 

Miguel Sancho and his wife Felicia Morton were that family. They became advocates and went on a wild medical adventure. And today, they can celebrate the triumph. However, they have decided to share the harder part of their journey.  

Miguel has written an enthralling book entitled More Than You Can Handle: A Rare Disease, A Family in Crisis, and the Cutting-Edge Medicine That Cured the Incurable.   It is the story of a family straining under the weight of their son’s diagnosis of chronic granulomatous disease (CGD).  Written in the first-person, Miguel shares his deepest thoughts, fears, and vulnerabilities. He relates the mistakes he made along the way and how he has come to grips with them. 

It was wonderful to have Felicia give her angle on some of the stories too. Felicia has used the experience and started a nonprofit CGD Association of America. CGDAA is committed to advocating on behalf of patients, carriers, and families by providing clear, accurate, and independent news and information about CGD and advancing CGD research.

During the interview, Miguel and Sanath connect in a way that only rare dads can. Sanath is at one end of the tunnel, filled with little more than hope and drive. Miguel is at the other end of that tunnel, able to provide encouragement and speak of hopes fulfilled. 

We highly recommend Miguel’s book.  It is extremely well written and the story teaches some important lessons.  It will be available starting March 2. You can order it on amazon. More Than You Can Handle 

When Raghav was born, he failed his newborn hearing test. From that moment on, Sanath and Ramya knew that his hearing was going to be an issue – they just did not know how big an issue it would be.

After many tests, they learned he had auditory neuropathy. It seemed that his hearing was inconsistent; it was like the connection was loose. Sometimes he would react to sound and other times he had no reaction.

They began a search for a solution. 

In this episode, we hear about the options they looked at before finally deciding to go with a Cochlear Implant.  We talk about how a cochlear implant works and the high-tech capabilities it has. We also hear the surprising results of this change and the impact it is having on their lives. 

We want to thank Stealth BioTherapeutics for supporting this episode of Raising Rare. Stealth BioTherapeutics is an innovative biopharmaceutical company developing therapies to treat mitochondrial dysfunction associated with genetic mitochondrial diseases and common diseases of aging.

https://www.stealthbt.com/

To learn more about Cochlear Implants like the one Raghav had placed, go to https://www.cochlear.com/