Raising Rare

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.  

Like so many other rare families, Megan has experienced the trials and tribulations of the healthcare system and how important it can be to move to the right location. She and her husband decided to use their skills and resources to build The Children’s Rare Disorders Fund (https://www.thecrdfund.org/) to help support R&D. She wants the fund to help small disease organizations work together and reduce duplication of effort. 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.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

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.

Aisling’s poetry can be found on Amazon, Hope and Motherhood: Plot Twist.

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. 

As Mark joins us today, his son is now 35, married, recently bought a home and is still having the journey that they never thought he would be able to experience.

What started as a bake sale raising just a few hundred dollars led them down a path that led to a scientist. Everything they did at the moment regardless of how small of insignificant it seemed, and over the next 30 years, culminated to what is happening now.  That scientist and his dedication led to a treatment just 8 weeks before Ryan’s 10th birthday that forever changed the course of their life. More importantly, that scientist has remained present in their lives throughout all of Ryan’s milestones. He was present at his High School graduation, his college graduation, and even recently at his wedding. That scientist’s dedication and commitment pushed the science to a treatment for Ryan and that treatment allowed the development of treatments for so many other children with similar rare diseases.

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.  

What words would you use to describe your hopes for the coming year (or coming season of Raising Rare)? After a short break our cohosts are back to talk about changes and mindsets they are having for the coming year.  

What are your goals for the coming year?

We would love to hear from you about any book recommendations, hopes for upcoming episodes, or any stories you may want to share. Please reach out to us on social media (add handles) or at [email protected].

Resources From This Episode: Kristin Smedley - https://www.thrivingblindacademy.org/

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

We have had an amazing time sharing our stories and our guests with you this season. We hope that this season of Raising Rare has had as profound an impact on you as it has on us. This episode is sadly the last of the season, but we will be back again in January with a new lineup, some old friends, and continuing to share the stories that started it all.

This episode of Raising Rare we check in with our Co-Hosts and hear how their years have changed, set-backs, advances, and just how much work goes into just keeping their kids stable. Their optimism and positive outlook despite hospitalizations, illnesses, and ongoing changes is not only commendable, but also humbling. Join us as our cohosts highlight their favorite episodes this season and how they have impacted our own lives not only during the recording, but their perspectives going forward.

Sanath, thank you. Thank you for sharing your life, your story, your knowledge, and all of your kindness the last 4 seasons. You have truly made our vision and our hopes for this podcast come to life. We have grown and broadened our thinking with every discussion and every episode because of you. We have loved hearing about Raghav growing, but also seeing the growth and changes that you have made in your life and your perspective.

Brittany, you have been the most welcome addition to Raising Rare. You bring a maternal love and openness to all our episodes. You exude such beautiful determination and strength while advocating for your daughter and sharing all her stories with us. We are so hopeful for all of the changes that have been made in Everleigh’s treatment and are hopeful of the positive impact it will have on your daily life. We are blessed that you will be joining us again on the next season.

Kevin, thank you for always being such a warm and welcoming host. Your ability to connect with your co-hosts and guests creates a space where stories are shared freely, advice and tips are allowed the opportunity to be discussed, and listeners feel like they were present during each of the recordings.

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.

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Did you know that Raising Rare has a merch store? Visit https://www.etsy.com/shop/Apparel4Zebras.

On this episode of Raising Rare we speak with Julia Taravella, the mother of two sons with a lysosomal storage disorder called AGU, Aspartylglucosaminuria. 

At 2 years old, her boys first showed signs of speech delays which triggered a long journey to a diagnosis. Her bright, happy and helpful sons who run around the house adventuring, exploring, and learning new things, much as a 6 year old would be, are now in their 20’s and have lived beyond the typical age of someone with their disease.

After visiting multiples 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.

Julia’s story is one marked with hope, perseverance, and love for her sons. To learn more about her sons, updates on their lives, or if you would like to donate please click on any of the links provided.

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 Lily and Mira; Mira was born nonverbal and non-ambulatory due to Cerebral Palsy. Vik talks with our hosts about the importance of patience, the reality of impatience, and how humbling being a caregiver really is. As a seasoned caregiver, Vik discusses the importance of trial and error, mixing new technology with old, and simply finding what works best for your family in each situation.

In his years of caregiving Vik has come to understand the stresses and burdens of caregiving and is now working to help reduce that burden. Vik has created an app, that will hopefully be launching by the end of the year, called MiraKare which will help caregivers track and better understand how environment, people, and all of the other day to day factors are affecting the person being cared for. We are all on board with the importance of an app that works for caregivers without adding to the burdens they already face and cannot wait to see the impact that MiraKare has on some of the hardest, most invisible work that we do.

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. It is always a pleasure to talk with Dillon and this episode follows suit.

Dillon is a strong advocate for mental health awareness, especially within the rare disease community. In this episode, Dillon gets raw about the reality of disappointments and not having access to available treatments. He talks with Kevin about the reality of how some relationships are impacted by his rare disease, and also the profound importance of just being around people in his community.

On October 8th, Dillon is participating in RideAtaxia to help raise money and awareness for Friedreich’s Ataxia. If you would like to learn more about RideAtaxia, to help Dillon reach his goal, or even to join Dillon’s team click here.

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. 

Terry’s breakdown of how they made decisions, saved time when able and what a wonderful team they have had working with them. Terry has been a driving force and a constant presence with his team igniting motivation amongst everyone. 

Try your best, do what you can, but commit to everything you choose to do.

You can find out more about Terry’s most recent venture at Rare Disease | Elpida Therapeutics.

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. Kacy has experienced a lifetime of medication to help treat her condition, and also anti-rejection medications in an effort to keep her donated kidney alive and well inside of her. Her father Tim was blessed with the opportunity to donate his right kidney to her in 2015.

Kacy talks with our hosts about the side effects of her medication as well as the current events in her life and how she manages her condition. Together with her father Tim, they provide our listeners with how they have managed the disease as a family and how remaining hopeful and taking part in fellowship with others in the Cystinosis Research Network has been therapeutic. Listen along as our hosts discuss the turning points the family faced on their diagnostic journey, and hope for future treatments that may be available.