Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder.
That is exactly where Sanath Kumar Ramesh found himself in the summer of 2018. One year later, on his son’s first birthday, they found out that their son, Raghav, had an extremely rare mutation of the GPX4 gene. At the time, doctors told them that Raghav may be the only one on the planet with this genetic variant who had lived beyond one month of life. The prognosis is completely unknown.
They were alone.
They were scared.
And then they went into action.
And now they want to share their story.
Every couple of weeks Raising Rare will give you an update on baby Raghav as he grows up. We will also share how Sanath and his wife Ramya are driving toward a treatment for their son. We will explore the science that Sanath is initiating, their efforts to fund that research, and the people they meet along the way. We will also hear how the family adjusts to challenges and changes that they are faced with. Most importantly, we will share the wisdom they gain along the way so that other Rare Parents can learn from their steps and missteps.
We don’t know where this story will go. We do know we want you to join us for the journey.
Brave Pioneers in DMD Terri And Billy Ellsworth - Part 1
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 Unseen and Indirect Costs of Raising a Rare Child
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.
Breaking Down the Rare Disease Medical Bills
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.
Nicole Horvath: A Life of Outliving Cystic Fibrosis Expectations
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.
Introducing Open Treatments: Making Rare Disease Research More Accessible
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
It's Not Humanly Possible Revisited
Parents cannot focus 100% on the child as well as make progress toward a treatment. It’s just not humanly possible.
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