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.

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.

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.

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. 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.

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.

On this episode of Raising Rare we talk with Megan Nolan, a rare mama working to make a difference for other Rare Families. Megan has launched the online magazine Rareparenting.com in an effort to provide rare families with resources that may be beneficial to them.

Listen along as our hosts discuss the different obstacles she has faced and why certain aspects of her son’s journey with FOXG1 have taken so long.

This episode we are joined by Aisling Finn, an amazing poet and rare disease mama.  As she shares her poetry with us, we react to the emotions, struggles, key moments and pain that are so clearly pictured in her words.  Aisling shares with us the impact that writing poetry has had on her, and her expression of her feelings, and how they have helped her cope with her own rare mama journey.  Each of the poems that Aisling shares with us touches on a different impact of her life, stories that so many rare parents can relate to, understand, and feel the impact of. This episode is truly special.

On this episode in our Other End of the Tunnel Series we are joined by Mark Dant. When their son was just three years old, Mark and his wife were told that their son would pass within the decade after his diagnosis of MPS 1 and the lack of treatments available. As they laid on his floor listening to him breathe on the night of his diagnosis, they buried the home that might have been and the dreams of the life that was no longer possible. 

Welcome back! We can’t believe we are already on our fifth season of Raising Rare. So much has happened since we started this podcast and we hope to keep evolving, growing, and bringing remarkable stories and individuals to all of our listeners.

The Raising Rare team is so thankful for all of you tuning in to every episode, sharing your stories with us, and giving us the energy that we have needed to keep this going. We hope you join us again after our break to listen in as we see what Season 5 brings.

At 2 years old, her boys first showed signs of speech delays which triggered a long journey to a diagnosis. After visiting multiple doctors and hospitals all over the country it turned out to be an at home test and Julia’s background in chemistry that proved to be an integral part in her son’s diagnosis.

On this episode of Raising Rare we talk with one of Kevin’s old colleagues, Vik Sharma. Vik is the father of two wonderful children. Vik talks with our hosts about the importance of patience, the reality of impatience, and how humbling being a caregiver really is.

Since last talking with Dillon earlier this year, he has faced some difficulties related to his mental health, access to medication, and not being granted access to a new clinical trial.

On October 8th, Dillon is participating in RideAtaxia to help raise money and awareness for Friedreich’s Ataxia.

On this episode we are able to interview one of our first guests again, Terry Pirovolakis. Terry gives us the update on what they have gone through in the last three years, his 4 million dollar gamble, a massive career change and how his son Michael is doing now after receiving a dose of gene therapy.

On this episode we talk with Kacy and Tim Wyman. Kacy is a 21 year old sophomore in college who was diagnosed with Cystinosis at the age of 4. Her father Tim was blessed with the opportunity to donate his right kidney to her in 2015.

This episode is a call to action, an opportunity to seek out available resources, and another connection to an amazing rare parent striving to make the rare community better.

Life with a rare disease changes everything for parents.

What is the cost of stress? What is the cost of scheduling everything? What is the cost of explaining your situation...again? What is the cost of one more thing?…

Dillon Loomis-Head is a dear friend to Salem Oaks, a mental health advocate, a clinical trial participant, and a Friedreichs Ataxia Research Alliance Ambassador.

Cristol Barrett O’Loughlin, founder of ANGEL AID CARES, was a caregiver to 3 of her brothers early in her life; now she works to care for caregivers.