The United States is home to approximately three hundred and eight million people. Of those three hundred and eight million people, one in one hundred to two hundred and fifty thousand children are diagnosed with Rubinstein Taybi Syndrome. And it is that very rarity that brings us together in this room. To us Rubinstein Taybi is not rare – it is our lives.
My name is Stephanie Hunt. I am the parent of an RTS child. My Son Donnie was born on Thanksgiving Day, 2002. As a family, my husband Donald and I, and my older son Jordan were as excited as any expectant family when little Donnie came into our world and we have faced many obstacles, hurdles, and yes, disappointments since then but never with him. His arrival continues to be a blessing every day — and on a level that we could not ever have imagined.
It wasn’t long after Donnie was born that he was diagnosed with RTS. We were at a teaching hospital and the novelty of a rare disease birth attracted much attention. Our one attending intern soon turned into fifteen, each one respectful but curious and it was overwhelming to say the least. What should have been a time of peace and bonding with our new baby became one of fearfulness when we were taken to a room and shown a medical journal documenting the worst case scenario. We were afraid for ourselves – how would we cope – but also afraid for Donnie – what would his life be like. This wasn’t as if he’d scraped his knee or bumped his head – things we could make better. In this case even the most learned doctors couldn’t make things better…or even predict what was to come. We left the hospital, and took the first steps on an incredible journey; a journey that shook us to our very foundation as often as it gave us the wings we needed to fly.
As we attempted to maneuver through the red tape – at every level of the medical and eventually political field, it became clear how rare diseases gained the nickname “orphan”. No one wanted to help, or direct or inform. We were as much orphans of the system as the rare diseases are the orphans of the pharmaceutical giants. We were on our own. My eldest son Jordan has always said that he wants six children – bless his heart – and I cannot help but wonder if something we find today, tomorrow, next month or next year will impact the lives of his children – but it also makes me think – what if we didn’t even try. What if we can make things better, what if we can cure a disease, what if we can improve life for Donnie and the lives of all those affected by rare disease?
Life with Donnie is a roller coaster of emotions – incredible highs when he achieves things that we only dared to dream about. Lows when he suffers medical set backs and must undergo procedures and surgeries that we wish we could undergo for him. The strength of our children…and especially those family members with RTS is a constant source of inspiration and provides us with the strength to carry on in our quest for a cure and continued research.
Research is like a box of chocolates – you never know what you’re gonna get – you just have to keep trying things till you find something that works. And when you do find that thing – you’ll know that the day you decided to never give up was the day you made the best decision of your life.