Rare Disease Day 2023

This episode is being published on February 28th, otherwise known as Rare Disease Day.  This is the day we speak a little louder than normal on behalf of those impacted by Skraban-Deardorff.  There are over 300MM people impacted by rare diseases worldwide, with 72% of them being rare genetic diseases like SKDEAS.  Sometimes we feel small and alone and this day pulls all rare families together to drive awareness of the importance of fighting for treatments and better lives.  

So I’m doing something a bit different on the podcast today and featuring two guests that have recorded themselves answering the question “What Does Rare Disease Mean to You.”  First, we will start with Andrew, who is a SKDEAS patient and we are proud to have him giving a voice to this genetic difference.  

Next, we have Kristen Worrell, who has a young daughter impacted by SKDEAS and she beautifully tells us what rare means to her and how grateful she is for her daughter.  I’ve never had her on this podcast before, but she must join me in the future to tell more of her story.  

I also took this assignment and i flipped into writing a letter to our first neurologist.  There is a proverb that is still widely taught in medical school that goes something like “when you hear hoofbeats, think horses, not zebras.”  That hurts our rare community and often delays diagnoses and dismisses parents that know there is something going wrong with their child.  I wear a zebra brooch to remind myself to never let someone dismiss me again and to find the doctors that think zebras. 

Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

Transcript

PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our rare disease superheroes. 

Hi everyone. This episode is being published on February 28th, otherwise known as Rare Disease Day. Today is a day we speak a little bit louder than normal on behalf of those impacted by Skraban-Deardorff. There are over 300 million people impacted by rare diseases worldwide, with 72 % of them being rare genetic diseases like SKDEAS. So sometimes we feel small and alone, and this day pulls all rare families together to drive awareness of the importance of fighting for treatments and better lives. So I'm doing something a bit different on the podcast today and featuring two guests that have recorded themselves answering the question: What does rare disease mean to you? First, we will start with Andrew, who is a SKDEAS patient and we are proud to have him giving a voice to this genetic difference. 

ANDREW: Hi, my name is Andrew. I was diagnosed with Skraban-Deardorff Syndrome. And I feel like when I was diagnosed with Skraban, it makes me feel happy, but it also makes me feel like I'm not alone. And it makes it a lot easier for me to not be alone with this. So there's a foundation to help people and I am very glad that we came a long way and I am proud of my story and I am proud of who I am. 

And yeah, and when I think about it, I feel like there's a happiness happening. And for me to be part of the Skrabanian community means a lot to me. So if I can help others, it will be awesome. And I hope you guys listen to this video and think about who I am and who, what the future will look like for me. So I hope you guys are having a wonderful–When you listen to this wonderful video, you will think about my story. Thank you for caring and thank you for telling, I'm glad I'm telling my story again. It's been a journey and it's been awesome and it's been a lot of nice things going on. 

EMILY: Thank you, Andrew. We always love hearing from you. And next we have Kristen Worrell, who has a young daughter impacted by SKDEAS, and she beautifully tells us what rare means to her and how grateful she is for her daughter. And I've never had her on this podcast before, but she must join me in the future to tell more of her story. 

KRISTEN: To have a rare disease means to come to life with a fight born into you. A fight to live and a fight to grow. It also means having challenges you are not even aware of rising against you. Are you worthy of life? Should you be given a chance? Is the risk worth it? 

To have a rare disease often means entering the world in the most surprising and dramatic fashion. Nothing could prepare you for the world, but certainly nothing could prepare your family and medical team for you. Strap in everybody because the journey is just beginning and it is going to be a wild ride. If you or your family have yet to develop a sense of flexibility and a go at the flow attitude, training starts now. 

To have a rare disease means you are often poked and prodded from a young age. While no child should have to go through these many inspections, you grow stronger, resilient, get your sense of joy, fun, and hope in life is not broken in some miraculous way. You grow accustomed to being a bit of a show if you end up in the hospital. Medical staff are curious about you and let you and your family know that your case is a bit of a mystery. Despite knowing that you are a mystery, when you are sick or something seems off, they still expect you to fit into the typical symptom category. It's tough. You want to be heard and you want to be validated, but sometimes you have no voice, literally. You rely on others to not only translate your wants, needs, or problems, but to also advocate for you because sometimes you cannot by yourself. 

To have a rare disease means to learn to be content with yourself. Coming to terms with your abilities and your deficits, while always believing that if you just keep on pushing forward another day, perhaps a new therapy, medication, piece of equipment, or new exercise will be a key to unlock new abilities or opportunities. Hey, maybe even a miracle could happen. 

To have a rare disease means to have a close-knit circle of people who truly know you. Shallow relationships aren't possible, only those that are tight bonds. These people are faithful, kind, supportive, and there to cheer you on and to guide you. Trust is an absolute necessity. 

To have a rare disease is to understand the unpredictability and adventure of life. Nothing is guaranteed. One can chart a plan or course and in a moment it will all fall to pieces. But what hidden gems can we find among the brokenness? Perspective and insight are gains that can only be given to those who walk this road. One day could bring a great deal of heartache and pain, yet another day could bring enthusiasm and excitement you can never have expected. The stark reality of death or bodily weakness may be ever-present, but so is the pricelessness of each moment and the joy in every obstacle overcome. 

This life began as a miracle. This life was given a chance to grow and develop. This life is worth living. 

EMILY: I hope you found inspiration from those two speakers. I also took this assignment and I flipped it into writing a letter to our first neurologist. 

There's a proverb that's still widely taught in med school that goes something like, “When you hear hoofbeats, think horses not zebras”.  And that hurts our rare community and often delays diagnoses and dismisses parents that know there is something wrong with their child. And I actually wear a zebra brooch to remind myself to never let someone dismiss me again and to find the doctors that think zebras. So here is my letter. 

Dear Dr. X, 

You may not remember me, but I think you will remember my son. We were referred to you by our pediatrician because our 18 month old son began having seizures and we knew something was wrong. He was born perfectly healthy, but the pediatrician began calling him a “floppy baby” due to his low muscle tone. 

We immediately started early intervention and physical therapy to help him, but he was developing at a much slower rate than his peers. He was our first child, so we weren't entirely that worried. And we believed everybody that told us he'll catch up and all kids develop at their own pace. But when he had seizures at daycare, we demanded to see a neurologist. After waiting months and months and months for an appointment, we finally pulled some strings and got in to see you. And thank God, because the waiting game when doctors refer us to a specialist, but the specialist is booked for months out, is unbearable for rare parents. 

You were very sweet and kind, and we immediately saw you connect with Joe. He's the happiest kid in the world, so he smiled at you with his huge smile and huge blue eyes and engaged with you. I think because of his happy demeanor, anything serious was dismissed. He was in daycare, so germs spread, kids spike fevers, and you said it was a febrile seizure and pretty common among children. While you didn't tell us that Joe would catch up, you did say that he would go at his own pace. You told us we are concerned now because a two-year-old acting like a one-year-old seems terrible at the moment, but imagine a 30-year-old acting like a 28-year-old. Nobody can tell the difference. So I let my guard down and I believed you. 

We continued with the PT and eventually added OT and speech. All the therapists loved Joe, but he was still developing excruciatingly slow and the seizures continued. You finally agreed to an epilepsy test and that didn't show anything significant, so we let our guard down again and continued with the early intervention, thinking our kid would suddenly start crawling and then he would walk and then talk and all would be right with the world and we would have funny stories to tell him about when he got older. 

But the seizures continued and the sleepless nights continued. We had emergency medication to stop prolonged seizures, but once he had three in a night and we rushed him to a hospital. One of the endless amounts of med students that kept asking us questions had our interest peaked. She said “Delayed development, low tone and seizures is usually indicative of something else”. “Don't worry,” I told her. “We are seeing a great neurologist and she said not to worry”. 

Finally, it was clear something was very wrong with Joe. Every time we saw you, our son barely progressed in his development and was falling further behind. You agreed to do genetic testing for epilepsy, and I remember you disagreed with the geneticist's desire to also test for Angelman syndrome, but said we may as well. I had a friend with a child with a rare disease, and she told me to push for full genome testing, but you said no. You said what countless other doctors say to parents of rare disease children. We wouldn't be doing anything different with Joe's treatment, so you don't recommend it. And I believed it. 

Cut to a move across the country to be closer to family that could help us support our delayed child. We switched neurologists, and she immediately agreed to a genetic testing and worked with our insurance to get it covered, and we got this diagnosis of Skraban-Deardorff. That day was hard. There were a lot of tears. He was still exactly the same child, but suddenly drastically different. 

Do I regret finding out a rare disease was impacting my kid? No. Not only do I not regret it, I embrace it. By finding out what was causing my child's symptoms, it gave us a new sense of hope. We found a community of other parents caring for kids and adults with Skraban-Deardorff. The rare disease community is a number one reason why you need to push for a diagnosis. 

As parents, we are isolated and have a fear of the unknown for our kids. And while that didn't go away with the Skraban-Deardorff diagnosis, we finally found a community of people to join and share stories and advice. Understanding the diagnosis gave us a new way to advocate for our kids in a way we couldn't do with a global delays diagnosis. Joe may not be the one to change the stats around rare disease, but at least now we are in the game and can join other rare parents to fight for funding and testing and cures for our kids. We have the Skraban-Deardorff community to talk with and cry with and advocate with. 

So I'm writing to share my story with you. Maybe you don't remember me, but I hope you remember the blonde-haired boy with piercing blue eyes and a huge smile. And next time you tell someone that they don't need genetic testing, please think of Joe and his worried parents and that those hoofbeats may be zebras. 

Thank you, 
Emily Beauclair, mom to the amazing Joe. 

Thanks for listening everybody. And I dedicate this episode to Dr. Morris Rabinowicz, who is the greatest doctor I've ever known and definitely thought zebras. 

PODCAST EXIT

EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest on the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon!