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What I Want Parents to Know About Rubinstein-Taybi Syndrome

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For the past several years, I’ve shared various medical facts about Rubinstein-Taybi syndrome (RTS) to raise awareness of this rare condition, especially on World RTS Day (You can read those posts here and here.)

While the medical facts are extremely important to know and understand, I’ve also realized sharing our life experiences is equally important, since people will see what life can be really like for individuals with Rubinstein-Taybi syndrome.

So this year, I want to go beyond the medical facts. If you’ve followed our blog and Facebook page, you have great insight into our lives and our journey with Rubinstein-Taybi syndrome.

For those who are new to our journey or if you’re a parent learning about your child’s diagnosis for the first time, here are just a few things I want you to know about RTS.

Rubinstein-Taybi syndrome isn’t terminal, but it is lifelong. Because of the diagnosis, there are challenges our children will face their entire lives with communication, gross motor skills, dexterity, endurance and living independently. But this isn’t something to be pitied. Our children are resilient. They learn to experience their world in ways we might not have ever imagined. It might take them longer to get there, but they do attain skills like walking, running, jumping, climbing and much more.

Our children are capable of so much. When I first learned about our diagnosis, words like cancer, developmental delay, musculoskeletal issues jumped off the screen. I immediately began thinking of all the things our son, Braxton, would never get to do. He’d never throw a baseball with his dad, never ride a bike and never play on a playground.

But when I joined a Facebook group for families of children with RTS, I found hope. There were families who had children who played baseball, swam, ran and were Special Olympic athletes. I realized that despite what the research said, Braxton had endless opportunities. And look at him now — Braxton played baseball with Miracle League this year, he’s learning to ride his AmTryke tricycle, he loves being in the water and he enjoys swinging with his sister.

Our children exude love and happiness. No, not every day is sunshine and rainbows, but most of the time, our sweet kiddo has a smile on his face. Don’t get me wrong, though, Braxton has a temper like no other! I’m willing to overlook that some days when he flashes his big smile and wraps his arms around me for a big bear hug. Braxton knows no strangers. He sees the good in all of us and loves unconditionally. 

Our son’s medical challenges can be tough and often difficult to handle, especially in the first couple of years when we didn’t have a diagnosis. On top of not knowing what was going on with him, we saw over a dozen specialists, and he had several surgeries and medical procedures. He was hospitalized once for pneumonia, and he was sick constantly with colds, sinus infections and ear infections.

But despite these challenges, it does get better! Braxton has been medically stable for the last three years. He’s making great progress, achieving therapy goals and staying healthy. We still have all of our specialists, but our visits are down to annual visits and some doctors have simply said, “He looks great, call us if you need us.” 

My fears and worries never go away, but they do get quieter. They’re there in the back of my mind, and with every cough, every sniffle and every fall, I wonder if this is going to be the event that turns our world upside down all over again. I hold my breath for a moment, and then I remember to breathe.

I can tell you not to worry, but who am I kidding? It’s our parental instinct to worry about our babies. So instead, I’ll tell you that it’s OK to be worried, but don’t let it keep you and your baby from living life. Take chances, hold your breath, but don’t forget to breathe.

Follow this journey on Journey Full of Life.

Imagine someone Googling how to help you cope with your (or a loved one’s) diagnosis. Write the article you’d want them to find. If you’d like to participate, please check out our Submit a Story page for more about our submission guidelines.

Originally published: July 6, 2016
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