A Journey Down the Yellow Brick Road: Rare Disease Edition

As I write this, I’ve just returned from our second international CTNNB1 conference in Ljubljana, Slovenia (which I will share more about soon). For someone who never got to travel as a child, this has been a remarkable journey. Growing up as one of 13 children, even Disney World was an unattainable adventure. Instead, our childhood was filled with the simpler pleasures of the "good old days" – camping at the lake, sledding down steep hills we had no business being on, and playing outside from dawn till dusk. Yet, deep down, I always longed to be a jet-setting traveler, mysterious and worldly.

It’s funny how life works. It took having a child with a rare disease to turn me into a globe-trotter. My son’s condition has led us on multiple adventures across the world, attending numerous rare disease conferences. And I must say, the best kind are the family conferences. There’s simply nothing like them. These gatherings impact not only the families directly affected but also all the stakeholders who show up in various ways – from sponsors to presenters.

At every conference, I brace myself for the inevitable, heart-wrenching question: “Will this therapy make a difference for my child since they’re older?” Sometimes, the experts provide a flawless answer. Other times, even a simple “we don’t know” can go a long way in ensuring parents don’t lose hope and disengage from the rare disease community.

One of my passions is ensuring families understand the value of the bigger picture, even when it’s not directly about their child. My son, too, might be “too old” when the time comes for effective therapy. I’m fully aware and practice to be at peace with that outcome. But knowing this possibility only fuels my advocacy, pushing me to leave a better world for future families. For that day when families have no idea who we are, who fought so hard to make their landing softer, they might think it was the work of some magical man behind the curtain, not realizing it was the entire kingdom of Oz – from the Lollipop Guild to the fearless Lion – who made it possible.

They’ll never know about a five-year-old named Lizzie who wanted to sell all the vegetables in her Grandma's garden to make money for her friend Ford. This act of kindness sparked bake sales across the country among people inspired by a child's initiative. They’ll never know that Ford is independent in his wheelchair because of those kids who sold carrots and rice crispy treats for him.

Every time I see a parent agonizing over this issue, I make sure to try and say SOMETHING useful, SOMETHING to keep them in the hot air balloon and prevent them from crashing. I hope that the rare disease community, who is literally creating the science and treatments behind the disease, will make it all seem like a dream. For us and for them. Although, maybe it will be an epic blockbuster movie with all the giants in our community who trailblazed for its success. I’ll take either. I just care that people don’t give up. That they feel the purpose and growth from helping in any capacity to make a change for the future.

Leaders, don’t stick to the narrative that you’re doing this all alone and that your families don’t help. Families, don’t think your leaders have it all figured out and will grant your wishes. The quest is in ALL of us, and we can’t reach the end alone. Period. We must all show up, give something of ourselves, keep hope, encourage each other, and carry each other. We will wake up from this confusing and horrible dream one day, I know it. We will wake up and know that the next day, and the one after that, are gifts. We are courageous and can transform anything. We will not see the suffering we see now.

Let’s not wait for someone else to solve the problems we face. Let’s all be part of the solution. Whether it’s by attending conferences, participating in bake sales, or simply offering a kind word to a struggling parent, every action counts. Together, we can make a difference. Together, we can ensure that one day, waking up from this nightmare will feel like stepping into a magical, new world. Let’s be the heroes of our story, the ones who make the landing softer for those who come after us. Together we can make the impossible possible.

Together, we can turn our dreams into reality.

-Effie Parks, Once Upon A Gene