It has been confirmed. My nephew, one year old, has Muscular Dystrophy
. He was diagnosed with Duchenne.
From the NIH
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.
He has a 97% chance of being confined to a wheelchair by age 13. The median age for mortality
is 17 years. It is unlikely he will ever see his 22nd birthday regardless of the actual cause of the mortality.
My brother doesn't know if his wife is a carrier or if it was just some random mutated egg. She is pregnant again and will be getting an amniocentesis. Regardless of the outcome, they will carry the baby to full term. My brother's philosophy is "why should I kill a baby because it isn't what I wanted?" I fully support that.
I'll be buying lotto tickets from now on. If I win the jackpot, I intend to set aside US$2 million in a trust fund for Baby James to cover all medical, education, and travel.
My poor brother... I cannot imagine what he must be going through.
[Muscular Dystrophy Association