Grady was diagnosed with Pompe Disease at six months old.
He was born November 28, 2011 with no noticeable symptoms of Pompe. Right before his six month check-up, we started noticing that he couldn’t keep his head up when he was on his belly and he wasn’t meeting developmental milestones like he should be. At his six month check-up, we discovered that he had lost weight since his last visit and was not even on the growth chart. His doctor ordered blood work, and we were sent to the University of Missouri Women’s and Children’s Hospital in Columbia, Misssouri. It was there that we met his wonderful doctor and he was diagnosed with this very rare genetic disease.
When we arrived, we were bombarded with doctors hovering over Grady- immediately, we knew something was very wrong. After a completed heart echocardiogram, they discovered Grady’s heart was enlarged and diagnosed him with cardiomyopathy hypertrophy. We were in the hospital for three days, waiting for blood work confirmation from Duke University. Once we received conformation, Grady was able to start enzyme replacement therapy of which he received his first infusion of Myozyme on June 11, 2012.
Since starting enzyme replacement therapy, Grady has improved in so many ways. On September 20, 2012, we received the news that Grady’s heart is now normal size. He has started crawling and acts just like any normal kid his age. He is only slightly delayed in gross motor development and right on target in all other areas of development.
Pompe disease is a very rare neuromuscular disorder that caused progressive muscle weakness. Grady is missing the enzyme acid alpha-glucosidase. It is an important enzyme that breaks down glycogen. Since this breakdown can’t occur because of the missing enzyme, glycogen accumulates and causes damage to the muscle causing muscle weakness.
Awareness of this disease, and so many others, is so important. Very few people, including a lot of doctors, know or understand this disease, making it difficult for us every time we go to a doctor that has never met Grady. It has become our job, as Grady’s parents, to educate people on Pompe and help people understand that Grady is just like any other kid, the only difference is he is battling, and winning, a very rare genetic disease.