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.

We continue our discussion with guest Amber Freed, Maxwell’s Mom and CEO of SLC6A1 Connect. Sanath and Amber have both found themselves as leaders in their particular disease communities. This is not a role they wanted to take on, they never competed for membership in this club.

On this episode of Raising Rare, we bring in a guest from the Rare Disease Community. Amber Freed has been recognized as one of the most driven parent advocates in the country.

We have discussed the importance of community to families raising a child with a rare disease before. In Episode 12, Sanath says, “Thank You” to three different communities who are crucial for Sanath and Ramya’s efforts to find a cure for Raghav.

Raising a child with a rare disease means that everything is just a little bit harder. There are no simple trips to the doctor. Any trip in the car requires lifting this growing boy into his seat, and he cannot even help.

All parents need to make decisions for their babies, but not all parents need to make the excruciatingly difficult decisions that Sanath and Ramya do.

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

We have previously shared the behind the scenes look at how Sanath and Ramya very rapidly adopted a virtual conference format due to the COVID outbreak.