Raising Rare

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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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.

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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.

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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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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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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.

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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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Josh and Kristin Hoyle knew that life with their new daughter Chloe was going to be different and likely difficult long before she was born. Even in this knowledge, they believed there was a purpose for what they were about to experience. And they leaned into the challenge.

Chloe has Bohring-Opitz syndrome and requires 24/7 nursing care to attend to her respirator, trach, and airway. When the visiting nurse services proved inconsistent, they made the decision to take on that round-the-clock care themselves. That meant Josh would leave his job.

And throughout all this, they found purpose and strength through helping other families. Their story is one of strong faith, amazingly positive attitude, and love. 

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On this episode of Raising Rare we talk with Stacy Lloyd, a rare disease patient and board certified patient advocate. Stacy has dedicated her life, even much of her free time to healthcare in one way or another. She currently works at the American Medical Association, previously at Saavy Co-op, and is on the board of the VHL Alliance. After being diagnosed with Von Hippel-Lindau (VHL) at a young age, doctors told Stacy that she might not be able to walk as she got older and tumors continued to grow. She went on believing this for most of her early adult life and even admits that she never thought about retirement or other aspects of growing older because they just wouldn’t pertain to her. It wasn’t until 2018 that a doctor she met at a medical conference for VHL told her that she was going to be alright, she would be just fine, that she started to really consider her life.

Stacy’s diagnosis of having a rare genetic condition at an early age actually led to a number of her family members being diagnosed as well. Stacy speaks with us candidly that not everyone has handled their diagnosis with as much hope and drive as she has and that a number of factors have played into that. Stacy’s hope for members of the rare community is that everyone continues to share their stories, that they continue being vulnerable with each other and their medical team because you never know who will benefit from you doing so.

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As Raising Rare continues to grow and evolve we are going to start bring in professionals that have beneficial stories for Rare Parents. These are individuals who have dedicated their lives to helping families in one aspect or another as they care for their children. Their viewpoints, stories, and perspectives are uniquely beneficial to parents that are involved in the rare community.

On this episode of Raising Rare we talk with Neil Ead, a 40 year veteran of the nursing field who has focused his career on pediatrics and more specifically chronic care. Neil discuses with our cohosts the importance of preparing in advance for the transition from pediatrics to adult care. This process includes finding replacements for most to all members of the care team and how hard this can be for the team members and the family. 

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