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.

6 thoughts on “Living With Pompe Disease: Grady’s Story of Hope”

  1. nomsa modia says:

    My grand daughter has just been diagnosed with the same disease.Thanks so much to both Gragy’s and also Juan du Plessis mom.They truly gave HOPE to our family.

  2. Meme says:

    My grandson 3 month old was diagnosed this week. We have been devastated. This article is our hope!!

  3. Jeremy says:

    Hey, my 3 month old son, the one meme talks about;). Also has pompe. Your story is my light at the end of the tunnel. My wife and I would love to have someone to talk to who knows exactly what we are dealing with, it would be great to hear from you guys

  4. My great granddaughter has just been diagnosed with this disease. This really took us by surprise. I am glad I read your comment. It sure has put a hope in our family . Thank you Gragy’s and Juan du Plessis mother. My granddaughter was diagnosed at 3mo’s She has been in the Omaha Ne. Children’s Hospital for about 4 weeks now. She just received a port this AM. Thanks again and I will do alot more praying for all the children with this disease.

  5. Christine Rangel says:

    My six month old has late onset pompe disease.To help him I put him on an organic,low carbohydrate,high protein diet plus an enzyme supplement called enzicore made by a health company called standard process.The supplement contains the alpha glucosidase enzyme,so I’m trying it out to prevent the disease from going into further effect,its no cure but every bit counts! Others who suffer from this disease or have loved ones who have it may want to try it.

  6. Sara Banghart says:

    My 5 year old daughter also has Pompe. Our journey started November 2011 when my daughter was just 3 months old. She also was diagnosed with hypertrophic cardiomyopathy (her heart was twice the normal size) and with enzyme replacement therapy her heart is normal size!
    Together we can spread awareness and educate people about this disease and everything that comes with it. My hero and my heart, Raelyn, is also battling and winning the fight against Pompe!

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