Stephanie Hunt © 2010 All Rights Reserved
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 manoeuvre 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 orphans of the pharmaceutical giants. Without the possibility of any large scale purchase of medications designed to address the diseases themselves they just weren’t interested. We were on our own.
It was at this time that I began to re-involve myself with pageant life. I had to lose about 100 pounds first though but if I wanted to get the message out there about Rare Disease it was something that was going to have to be done. Platforms or choosing a platform is an integral part of competing in pageants. There are so many good causes to support that picking just one can be difficult. I like to say that mine was quite literally delivered to me. Donnie chose me to stand up for him. Thru my success at both the State and National levels I’ve been able to spread the word. Working with and on behalf of the National Organization for Rare Disorders NORD®, is another step towards a global goal of awareness, continued research and cure for rare disorders of any kind.
NORD® worked diligentlyto have Rare Disease Awareness Day established in the United States two years ago but it was the very grass roots movement of people in individual states that really made it possible. My ego might have pushed me a little bit on that one as there was no way that Michigan was not going to lead the way…and we did, having proclamations signed by the City of Detroit, The County of Washtenaw, and the State of Michigan.
NORD® is dedicated to informing, helping & supporting victims and families of persons afflicted with a rare orphan disease. More than that they actively lobby government and pharmaceutical companies pushing for funding for programs and continued research. As Rare Disease Awareness day returns on February 28 of 2011 NORD® will once again champion our own individual causes.
Without NORD®, we would be unaware that our community, those affected by rare disease, is in fact World Wide – there are others out there that fight the same fight we do Very recently the Fondation Syndrome Rubenstein Taybi was approved for funding in the United States. With our help, Professor Didier Lacombe and his team will be able to continue their Rubenstein Taybi research project in France.
And research is a must – not just for this generation here right now – but for their sons and daughters. My 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.
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…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 going to 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.
Stephanie
Stephanie
A Rare Disorder isn’t Rare When It Affects Someone You Love
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. To us Rubinstein Taybi is not rare – it is our lives.
My name is Stephanie Hunt. My Son Donnie was born on Thanksgiving Day.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.
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. To us Rubinstein Taybi is not rare – it is our lives.
My name is Stephanie Hunt. My Son Donnie was born on Thanksgiving Day.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.
Stephanie Hunt © 2010