Season 5 has been fantastic.  We feel so thankful to our guests for sharing their stories. 

Which emotion-character from “Inside Out” are you?  Sanath and Brittany reveal the characters they relate to the most.  Rare parents experience the full range of emotions, sometimes in the period of a single day, and it can get very tiring.    

In the season finale, we talk about the need to step away and retreat into the cave to discover the next leg of the journey.  

We are taking a bit of break too.  We plan to be back in early 2025. 

As a new parent, you feel like “Oh, my gosh, I must be going crazy” or…

…maybe the doctors don’t even understand what is going on.

In some instances, those doctors begin to question the parents and their motives.  There is even a diagnosis for this, Munchausen By Proxy (MBP).   The problem is that the signs of MBP and just being a good parent of a rare child look very much the same.

Donna Sullivan discusses her traumatic experience of being suspected of imagining her two kids’ illnesses.  Her relentless advocacy was costing her credibility.

We often hear the stories of patients and caregivers.

Rare Patient Voice is well known for connecting family's stories with the researchers who need to hear them. The founder, Wes Michael, sat down with us to share the results of a caregiver survey they conducted in late 2023.

These data can now be used to make the case for new policy, for the need to provide for these families, and even to explain to outsiders what they are going through.

In Part 1, we heard about the bold and courageous approach that Ryan Benton's family took to treat his Duchenne Muscular Dystrophy.

The mission of CTFAC is to make stem cell therapy the standard of care for Duchenne Muscular Dystrophy a wide variety of rare and debilitating diseases.

Blake Benton’s earliest memories were his brother declining due to Duchenne Muscular Dystrophy.

About 10 years later, his parents and brother made a bold move. They went to Costa Rica to get an experimental stem cell therapy.

Ryan and Blake started a non-profit named after a benefit concert they held – Coming Together for a Cure (CTFAC). The goal of CTFAC is to advocate for more stem cell research in DMD and other diseases. There are many challenges, especially in the US.

Type 1 Diabetes (T1D) is not considered a rare disease according to the numbers. The T1D community is quite large and includes people of all ages, races, geography, and conditions. Many of our guests use the technology developed for T1D patients. Suzanne Hansen has become part of Brittany’s inner circle of T1D experts. We talk a lot about the tech, but the real story is the power of connecting with others who get what you are going through.

Beyond the Diagnosis is more than a traveling art exhibit. It is a movement to humanize the children who happen to have a rare disease. Raghav’s mom Ramya describes it as “creating joy and a feeling of permanence in the fleeting lives we have.”

Listen to rare mom Patricia Weltin describe the origins and the unexpected organic growth of this movement.

We discuss the joys, challenges, and surprises of raising a child with a rare disease on every episode.

In this conversation, we reflect on what each of us has learned through these discussions, through life “outside the podcast,” and through other people we have met along the way.

Without any set plan we wander through resilience, learning not to react to some changes in our kids, and the need to inject some art and creativity into the logical and scientific world of rare diseases. Each of these topics are the result and the formative process of our individual growth. And by sharing our lived experiences we fuel that growth.

The three of us really enjoy and appreciate having these open, vulnerable discussions; we learn so much about ourselves and each other. We hope you do too.

Losing a child is heartbreaking. Ashley Genelin lost her son Myles when he was just 3 years old. He was diagnosed with cardiofasciocutaneous syndrome or CFC. They did their best to keep him at home as long as possible, even when caring for Myles was like running an ICU. Make-A-Wish allowed them to take this mini-ICU on the road so that Myles could enjoy being with their extended family and the great outdoors. The memories built in this medical camper still serve to connect the rest of the family with Myles.

Ashley has leaned into all of this and now serves CFC community full-time. She was a member of the Board of CFC International and now is on staff. She hopes that sharing her story will make this easier for other families and will lead to changes in how the world manages rare syndromes like CFC.