Rare Disease Day: Together, We Can Do More
Today is the fifth annual observation of Rare Disease Day, an international event recognized in more than 50 countries. (Learn about US activities here, including a day of lobbying on Capitol Hill for the ULTRA Act, which aims to stimulate the development of treatments for rare diseases.) What’s a rare disease, you ask? It’s a [...]
RARE Patient Stories – ‘Meet Reed!’
Meet Reed! In January of 2011, we learned that our then three and a half year old son Reed has Sanfilippo Syndrome Type A, a rare and fatal Neurodegenerative disease. The disease is very rare, affecting about 1 in 70,000 births. To put that in perspective, according to NOAH, you are seven times more [...]
How A Bill Becomes a Law … It’s Complicated
We are often asked why we can’t quickly change the laws related to RARE disease therapy approval. The answer is that not only are politics always involved, it’s that the process is very complicated. This cartoon depicts what often happens in this process … what is needed seems very clear to us, but what is [...]
RARE Patient Stories – ‘Meet Connor!’
‘Meet Connor!’ Connor is a typical 5 year old boy, except, he has a life threatening condition. He loves to play with cars, hang out with his friends, and pretend to be Spiderman. But sometimes the fun times take a back seat when he is home sick with a cold because of his low immune [...]
Take Action: Tell Congress Rare Diseases Patients Deserve Treatments
Tomorrow is a day of celebration, but TODAY is a day of ACTION. More than 70 patients advocates are on the Hill today meeting with Members of Congress. Please join them in the Lobby Day by taking 10 minutes to call your Representatives and ask them to support efforts to spur lifesaving treatments for rare [...]
Zak’s Promise
“Opening Doors” For Prader-Willi Syndrome My wonderful son Zak was born with a rare genetic disease called Prader-Willi Syndrome (PWS). Although my wife and I may not have felt lucky at the time, we now know that we were blessed with good fortune when Zak was diagnosed as a newborn. Kids were mostly being diagnosed with [...]
Patient Stories of Hope and Inspiration – ‘Meet Riley!’
‘MEET RILEY!’ I have seen many things in the past four years since Riley’s diagnosis. Most of them have been while walking the road we are on. I have watched my daughter fight to overcome so much, beating the odds, SURVIVING, fighting back from setbacks and complications. She is my inspiration! Being on this journey [...]
Patient Stories of Hope and Inspiration – ‘Meet Samantha’
‘MEET SAMANTHA!’ I was diagnosed with Cystinuria in November 2010. I had problems from August 2008, but was not believed until I had an actual blockage that September. I was stented, but due to being scared and doctors cancelling appointments on me the stent was left in for over a year. I had no more [...]
Christopher – Growing up with Hunter Syndrome
Raising Awareness for MPS II When he was 6 years old, Christopher Dutcher was diagnosed with Mucopolysaccharidosis II (MPS II), commonly referred to as Hunter Syndrome . Remarkably, at the age of 28, Christopher has a dual MBA in Marketing. This is remarkable because many of those affected with Hunter Syndrome can have a significant [...]
Christian Billingsley: “Waiting for Medical Science to Catch Up”
On February 7, 2012, WWL-TV, the CBS affiliate in New Orleans, reported on Christian Billingsley, a 17-year old boy diagnosed with atypical hemolytic uremic syndrome (aHUS) at 3 months of age. Online Story Just Keep Him Alive Until Medical Science Catches Up (click on title/link above to see WWL-TV video) Doug Mouton / Northshore [...]