Rare Revolution

PARENTS AS RARE - EPISODE 077

A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks

Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way!

EPISODE HIGHLIGHTS

Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today?

I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool.

Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today?

About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second.

Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today?

My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same.

Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscape and why is the rare experience so different from other patient and caregiver experiences?

It's different because nobody's trained in this. Medical schools teach that if you hear hoof beats, think horse, not zebra. And so the rare disease community has taken Zebras and used them as our mascot now. My hope is that this odyssey and trauma will be lessened because we're finding more correlation between rare diseases and certain symptoms and illnesses now.

Adam, how does this diagnostic odyssey showcase what's actually going on?

I relate it back to pre-rare disease life. I would go to the doctor, expect an answer, and they would give me some kind of solution so I could move on with life as I knew it. I traveled almost 5,000 miles to three different states and to multiple specialists to get a diagnosis. We need to be heard. Our voices matter. Our experiences matter, and they need to be at the forefront. So we need to come together to elevate this and innovate and shorten the diagnostic odyssey. I think conversations like this can be a great jumping off point.

Kristy, what collaborations are the most common for rare disease patients and caregivers with healthcare, technology, and pharma?

A good collaboration is when you have all of the required stakeholders at the table, and everyone is treated with the same level of respect. Traditionally in healthcare, patients and caregivers aren't at the table. What's different in the rare disease space is that patients or caregivers are often educating. We are the ones that know our diseases inside and out. A pharma manufacturer, digital health tech company or a hospital system wouldn't build a solution without the experts, and not only are the patients and caregivers experts, but they're also teachers. The best collaborations that I've been involved in are the ones that I have participated in from the beginning and where I've remained a respected partner every step of the way.

Effie, how can the HITMC community better incorporate the rare disease patient and caregiver voice into the work they do?

Sharing our content, reading our content, coming to our conferences, being a part of the community, dipping into our podcasts, listening to our stories and making an effort to understand this forgotten demographic that nobody has anything to do with.

LINKS & RESOURCES MENTIONED

Chronically Simple & Simply Unbreakable – Kristy Dickinson

https://www.mitoaction.org/resources/par-chronically-simple/

Exploring Palliative Care

https://www.mitoaction.org/resources/exploring-palliative-care/

HIT Like a Girl

https://www.hitlikeagirlpod.com/episodes

Simply Unbreakable

https://www.chronicallysimple.com/podcast

Once Upon A Gene

https://effieparks.com/podcast

Connect with Grace Vinton