It was a chance of a lifetime, but it was scary for 10-year-old. Billy tells us about his memories and perspective being in a clinical trial for Duchenne Muscular Dystrophy. 

They were on the front lines of research that has now brought hope to some boys with Duchenne Muscular Dystrophy. Exon skipping clinical trial.

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.

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.

Cystic Fibrosis was a terminal disease when Nicole Horvath was born. She shouldn't be here. But she is, due to the research efforts of the Cystic Fibrosis Foundation.

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

Parents cannot focus 100% on the child as well as make progress toward a treatment. It’s just not humanly possible.

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.

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.

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 discuss how life has prepared each of us for what we are doing today. We learn a little about the vastly different childhoods that Effie and Sanath had. Each has uniquely shaped them to contribute their part to the larger rare community.

We have a very special guest, fellow podcaster and rare Mom, Effie Parks. Effie is the host of the wildly popular Once Upon a Gene Podcast and creator of Once Upon a Gene TV. This is part 1 of a two-part interview.

In this episode, we continue talking to Nikki, who started RareMamas.com in an effort to help other mothers who have recently received a rare diagnosis for their child. Rare Mamas will be a safe place for new mamas to go to share their stories, share their worries, and get the support they so desperately need.

In this episode we listen in on a heart-to-heart discussion between two mothers who are on this journey. You can almost smell the tea brewing as they talk about reaching those difficult forks in the emotional road. On Raising Rare we promise to talk about all the aspects of raising a child with a rare disease.

We continue our conversation with Terry Pirovolakis whose son Michael has spastic paraplegia (SPG50). Last time we discussed the realities of raising a child with a rare disease that Terry and Sanath share. This time, we talk business.

In this episode, we talk to Terry Pirovolakis, another father who is looking for a cure and treatment for his son Michael’s condition SPG50. They have found ways to work with each other and with other families. They are growing a community from scratch.

Dr. Perlstein is the CEO of Perlara, a Public Benefit Corporation that is dedicated to helping families seek treatments for rare genetic diseases. In this episode, Dr. Perlstein talks about building animal models to screen existing approved drugs for repurposing.

On Friday, September 18, Sanath and Kevin had the honor and joy of co-hosting the Rare Together, Watch Together: Film Selections from the Disorder Channel as part of the Global Genes Live (un)Summit This was the third night of the mini-film festival and the theme was More than a Quest – Success.

Way back in episode 004, we heard Sanath talk about how hard it was to write the IND for compassionate use of an investigational drug. Having to express the possibility that his son may die without this intervention was one of the hardest things he has ever done. But he had to do it.

In this very special episode, we get an update on the IND and how far they have come with this experimental drug.

We continue our discussion with guest Amber Freed, Maxwell’s Mom and CEO of SLC6A1 Connect. In Part 3 we begin talking about the research strategies they are employing. But our conversation takes an unexpected turn.