In case you're not aware, a little over a week ago my wife Gina and I announced that we are pregnant with our second son, who is due in late February. We also made it known that, while we are very excited about his impending arrival, we were also anxiously awaiting DNA test results that would let us know if he tests positive for
Duchenne muscular dystrophy (DMD). Gina is a carrier of Duchenne and two of her brothers were born with the disease (one is still alive). Any boy she gives birth to has a 50/50 chance of having the disease, and girls have a 50/50 chance of being a carrier. The genetic testing had been taking an extremely long time — over ten weeks — due to problems with the lab (Athena Diagnostics). To say the past few months have been stressful for us while we waited for the results is quite an understatement. Finally, on Friday, we received word that the baby did indeed test positive for DMD. We were devastated by the news and are still trying to come to terms for what it means for our family and the baby's future. Needless to say, we would appreciate support from our family and friends during this difficult time.
Duchenne is a degenerative genetic disease that affects one in 3,500 boys. It is the most common form of muscular dystrophy, and there is no cure. This disorder involves rapidly worsening muscle weakness. Boys born with the disease typically start having problems before age six with weakening muscles in the legs, pelvis, arms, neck and other areas of the body, causing difficulty with running, hopping, and jumping, frequent falls, and the ability to walk may be completely lost by age twelve. Death usually occurs by age 25, typically from lung disorders. Treatment for DMD (usually involving steroids, which has significant side effects) aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.
We will soon be setting up a fundraising page in our son's honor to help raise money for research through an organization called
Parent Project Muscular Dystrophy that specifically targets Duchenne. We hope you can find it in your heart to contribute something. I will post a direct link to that page when it's up and running.
In addition to that, I wanted to add that ALL money raised by the
sale of ads (as well as T-shirts, stickers, etc.) on this website will, from this point forward, be donated—100%—to research into finding a cure for Duchenne Muscular Dystrophy (DMD).
UPDATE: Here's the link to our fundraising page:
http://www.parentprojectmd.org/goto/kopp
Thank you,
kopper
GaragePunk.com