Last week I went to the Rare Voice Award Gala in DC. I was honored to be nominated for the ‘Abbey’ award, for my work in championing the ULTRA/TREAT acts. The Abbey award was a beautiful marble statue of a Mother protecting and standing up for her child. Inspired after Abbey Myers a mother of a son with Turrets Syndrome. Abbey was the inspiration for the Orphan Drug Act, her story is quite amazing if not serendipitous. I encourage you to read the history of the Orphan Drug Act.http://archive.eurordis.org/article.php3?id_article=1751
After helping to establish the act she went on to found NORD, the National Organization of Rare Diseases. Abbey spoke at the award ceremony, once again I was moved and inspired by what the power of one Mom can do. I had the pleasure of meeting Abbey later, this women is a force to be reckoned with, lets just say I would NOT get in her way.
I didn’t win the award and yes it stand’s true it was an honor to have been nominated. I was so proud to be standing with the group of incredible parent advocates and I’m thrilled that my associate, friend and fellow Sanfilippo dad Roy Zeighami won for his role in driving the ULTRA/TREAT acts.
The event for me was priceless, It was a lovely intimate gala. Relaxed and small enough to finally get the chance to meet some of my idols face to face. Ryan Dant. I tear up just thinking about this young man. The Dant family embarked on their crusade to save their son Ryan in 1994, Ryan was diagnosed with MPS I at the age of 3, the average life span for MPS I is 10. Ryan is now in his early 20’s attending college and living a normal happy life. I crashed his table after having a few glasses to many of wine, I gushed. The poor kid is probably still reeling from the crazy mom, blubbering over him.
It was so beautiful to sit next to him and talk to him. Ryan is handsome, charming, bright and happy. He looks a lot like Jonah but with dark hair and eyes. The MPS features, make our kids look a lot a like. The likeness to Jonah just added to my emotions. Ryan is the first kid to survive MPS I, I told Ryan that I wanted Jonah to grow up to be just like him. Ryan has no idea how much I cherish him, he gives me immense hope.
I asked Ryan if he knew how special he was and if his friends new? He said: “no, I just want to live a normal life, there are just a few people that I have shared my story with.”
I pictured Jonah someday saying the same thing.
Here is an expert from an article about the Kakkis and Dant success story.
AS KAKKIS WAS STRUGGLING with drug development on a tight budget, a family in Carrollton, Texas, was facing tragedy. Ryan Dant was an energetic three-year-old when his mother, Jeanne Dant, took him to the doctor for a checkup. The pediatrician noticed Ryan’s head and liver were unusually large. “He had this disease no one had ever heard of, called MPS,” his father, Mark Dant, remembers.
There was no treatment. Severe MPS I kills children before the age of 10; people with milder forms may survive to young adulthood. By first grade, Ryan suffered overpowering headaches and nausea. His liver and spleen swelled to twice their normal sizes. His fingers curled up as the GAG stiffened his joints. He stopped talking about what car he would drive, or anything else related to his future, because he knew he wouldn’t have one.
As in many families faced with rare diseases, it fell to the Dants to seek their own cure. In 1992, they started the Ryan Foundation for MPS Children, eventually raising thousands of dollars through bake sales and golf tournaments. But they weren’t sure what to do with the money.
Emil Kakkis is to the Dant family as Alexey Pshezhetsky is to my family.
I also got to finally have some face time with another Hero father John Crowley, the Crowley family have two children with Pompee disease, another one of the lysosomal storage diseases. After driving a treatment for Pompee this dad went on to form Amiccus a biotech that focus’s on chaperone therapies. A chaperone has been one of the treatment options that Alexey has been perusing for us. I told John about this and he promised to reach out to Alexey and share his expertise. Alexey was happy to hear about the connection, wanting to speak with Amicus for some time. John reached out to Alexey yesterday, it’s always nice to know the CEO. Check out the movie Extrardinary Measures, based on the true story of the Crowley family.
Speaking of Alexey, I may have not won the Abbey, but Alexey did win the award he was nominated for, The Champion of Genetics award for 2013!
The nominees must meet this criteria: For the purposes of this call for nominations, translational research is defined as a way of thinking about and conducting research that moves basic research more efficiently into medical practice, with meaningful health outcomes. It is about harnessing the knowledge from basic science to produce new options for the prevention or treatment of disease, be that through drugs, diagnostics, or devices.
Alexey received the award based on his work in rare genetic diseases affecting children, including MPSIIIC. I’m sure Alexey will be winning a lot more awards for his work.
Have a wonderful Thanksgiving!