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. The findings were interesting and affirmed much of what parents raising kiddos with rare diseases already know.

So you may ask, "So what?" The importance of this first such survey is that it begins to quantify the range and depth of the impact of rare diseases on families. 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.

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Invitation to Check Out The Atlas

The Atlas

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

After seeing the success of the stem cell therapy, Blake and Ryan Benton felt very deeply that they needed to inform and educate others about this approach. From the grass roots of a local rock concert grew Coming Together for a Cure (CTFAC).

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. This is a challenging objective. Investigators need to be recruited, scientific evidence needs to be accumulated, and regulatory requirements need to be met. Because of the history of stem cell research in the US, all of these steps need to be done with utmost care and professionalism.

Learn more at CTFAC.org

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We are excited to share a late-breaking announcement from today’s guest. Coming soon: The feature documentary, The Sunshine Dreamer, shares the inspiring story of Ryan Benton's journey battling Duchenne Muscular Dystrophy and becoming the first person with DMD to be treated with stem cell therapy, starting in 2008. Thanks to the therapy, his life expectancy nearly doubled, allowing him to continue his passion as a musician and inspiring thousands of others fighting to overcome their diseases. The film also showcases stories of families across the globe who Blake and Ryan helped to receive stem cell therapy through their nonprofit Coming Together for a Cure. Additionally, you will hear from celebrities and professional athletes who have become advocates for stem cell therapy based on their personal experiences receiving therapy. They believe this film will motivate people about the immense potential of stem cell therapy to become part of the standard of care for those battling rare diseases and beyond. You can watch the trailer at CTFAC.org.

Coming Together For a Cure

Invitation to Check Out The Atlas

The Atlas

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. And it worked. Ryan was able to live until he was 37 years old with little degeneration caused by his DMD. He died in 2023 of complications from kidney stones.

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.

We discussed:

1. How his parents raised the boys and their sister

2. The impact of Ryan’s DMD on Blake’s life and outlook

3. The good fortune for Blake’s parents to have grown up with a stem cell researcher who thought this could make a difference for Ryan.

Mentioned in this episode:

Sunshine Dreamer Ad

We are excited to share a late-breaking announcement from today’s guest. Coming soon: The feature documentary, The Sunshine Dreamer, shares the inspiring story of Ryan Benton's journey battling Duchenne Muscular Dystrophy and becoming the first person with DMD to be treated with stem cell therapy, starting in 2008. Thanks to the therapy, his life expectancy nearly doubled, allowing him to continue his passion as a musician and inspiring thousands of others fighting to overcome their diseases. The film also showcases stories of families across the globe who Blake and Ryan helped to receive stem cell therapy through their nonprofit Coming Together for a Cure. Additionally, you will hear from celebrities and professional athletes who have become advocates for stem cell therapy based on their personal experiences receiving therapy. They believe this film will motivate people about the immense potential of stem cell therapy to become part of the standard of care for those battling rare diseases and beyond. You can watch the trailer at CTFAC.org.

Coming Together For a Cure

Invitation to Check Out The Atlas

The Atlas

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.

However, many of our guests use the technology developed for T1D patients. In fact, Brittany’s daughter Everleigh relies on the Dexcom G7 to manage her glucose levels. In this episode we speak with Suzanne Hansen, a mother of twins, one of whom was diagnosed with T1D just a few weeks after her second birthday. Suzanne 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.

Suzanne is active in her local T1D Facebook group and shares her story regularly on Instagram to help others who are trying to manage their kiddos glucose levels.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

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. So much of the work around rare diseases is logical, scientific, and medical. It can be a world without feeling.

Using art and artists to introduce and celebrate these children is much more personal and evocative. Raghav’s mom Ramya describes it as “creating joy and a feeling of permanence in the fleeting lives we have.” The artists who paint these pictures find a new purpose, a sense of amazement, and a deep understanding of these children.

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

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Invitation to Check Out The Atlas

The Atlas

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

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Invitation to Check Out The Atlas

The Atlas

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.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Invitation to Check Out The Atlas

The Atlas

On this episode we talk to Michelle Fruhschien a mom of two, Noah and Hailey(Jordan Syndrome).

The moment she was born, Michelle says she knew it in her bones that something was different about her daughter even though she didn’t start seeing symptoms for another two months. Over the next few months, Michelle spent a lot of her time googling, asking others for their opinions and was eventually able to see an Ophthalmologist who noticed an issue and suggested seeing Geneticist and then a neurologist after a misdiagnosis.

Michelle has built a supportive community for herself through social media. In the beginning of her own journey a friend told Michelle that she would get through this and eventually would be the stranger giving hope to a newly diagnosed family. Listen along with us while we hear about how important her community has been and the grief and joy that has accompanied it.

Learn More:

mamabearforrare.com

jordansguardianangels.org

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Invitation to Check Out The Atlas

The Atlas