Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are Full of Hope
July 15, 2013
After an uneventful pregnancy, I arrived at the hospital ready to meet my son and introduce him to his amazing big sister. There were no indications that anything would go amiss. After all, I had taken much better care of myself this pregnancy than I had with my first one. I ate better, I exercised, I didn’t gain as much weight, and therefore, nothing could go wrong.
As I was walked down to the operating room, my daughter ran up behind me and asked for one last kiss. In the OR, everything went well and at 7:58 am on June 24, 2011 we had Braxton Joseph, our 8 lb 8 oz, 21 inch long “healthy” baby boy. Little did we know the journey that was ahead. Within hours of being born, everything came crashing down. Braxton would not breastfeed and he also refused to bottle-feed. His blood sugars dropped dangerously low and upon evaluation, the neonatologist discovered that Braxton had a severe heart murmur, his ring and pinky fingers on both hands were fused together, his toes were malformed, his head was too small and he had several facial characteristics that were considered abnormal.
Braxton was transported to another hospital with a better-equipped Neonatal Intensive Care Unit (NICU). I saw my son for all of 20 minutes his first day in this world. That includes the short amount of time I held his hand while he was in the incubator with a team of paramedics waiting to drive him away. A FISH for Trisomy-13, 18 and 21 and full chromosome analysis all came back normal. We learned that Braxton had a bilateral coloboma (a hole in the iris of both eyes), a bicuspid aortic valve, dilated aortic root, hypoplasia of the corpus callosum, and that he needed a G-tube due to his inability to feed properly.
After 3 weeks, we were discharged with a list of symptoms, a list of doctors and therapists to call for follow-ups, a load of supplies, but no definite answers. We left with absolutely no idea about what was going on with our son. It wasn’t until we were discharged that I learned a family member had overheard a doctor say she didn’t think Braxton would live more than a few weeks. Every day was a fight for life. Every day, for a long time, I wondered if today would be Braxton’s last day. It wasn’t until I began to see real progress that my fears were even remotely calmed. We saw every specialist possible and had every therapy we needed right from the beginning. I learned everything I needed to properly care for him. Slowly, Braxton started to improve. He learned to hold his head up, to smile, to roll over, to sit, to get up on all fours, and finally at 15 months he learned to crawl. With every milestone, we celebrated. I began to embrace the life we had been given and truly learned what it meant not to take anything for granted. But still, we did not have answers. Test after test came back “normal.” The doctors continued to say “Let’s just follow-up in 6 months and see what has developed.” That was 6 more months without answers or treatment. Finally, at 17 months old, Whole Exome Sequencing was approved by insurance. Results came back 4 months later with an answer: Rubinstein-Taybi Syndrome (RTS).
While we had many questions and fears about our new diagnosis, we had an overwhelming sense of relief. Finally, we had an answer. I began to research everything I could about RTS and sought out other families. Within a few weeks, I talked to several families online and began to learn about their children and their experiences. We’d spent the first 21 months of Braxton’s life wondering what the future might hold, if he’d ever be able to do any of the things we imagined, wondering what other sacrifices we’d have to make about the life we had envisioned. Then, we learned that Braxton would be able to walk, run, jump, and possibly play sports. We learned he will have significant delays cognitively and that he may not learn to speak very well, if at all. But that doesn’t mean we are going to hold him back or forego teaching because he “might” not ever learn. I learned that so many of the things I’ve come to love about him are characteristic of many children with the same diagnosis. His smile, for example, is a universal characteristic of RTS with the eyes closed tight and somewhat slanted downward. His easygoing attitude and extremely loving and social personality are also part of his diagnosis, but they still mean the world to us.
You wouldn’t expect anyone with a journey like this to have the personality that Braxton does. He is quite spirited and full of so much life despite all of the struggles he has faced. Braxton has taught me so much about myself, the strength that I possess, and about being a better parent. He’s taught us about actually living life and celebrating every thing no matter how small it may seem to others. Two years ago, I thought my world had come crashing down, but in reality it was only the beginning of building the world we were always meant to have.
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