On April 17th, 2016 we welcomed a healthy baby boy Myles (so we thought) into the world, but what we didn’t know was he was fighting against the damage that MPS-1 hurler syndrome was doing on the inside of his tiny little body. In the few days after he was born we started to have some concerns. First, we noticed his breathing, which was abnormally noisy and he snored, alot! He also had a small hole in his heart, no problem since it was small. We were followed by a cardiologist and he would eventually grow out of it (which thankfully he did). Then as time went on his back had an abnormal “bump” on it, he required a VP shunt for hydrocephalus, multiple ear infections, distended stomach, slightly delayed milestones, and he had reoccurring hernias in multiple areas.
As concerned parents we fought hard for different tests and referrals, but the Dr’s (who we trusted at a well known hospital) all said he had “normal” childhood problems/issues and he would eventually grow out of them, and they weren’t concerned about them at this time. Finally after finding a Dr who listened to what we were saying and seeing our concerns, Myles was diagnosed with MPS-1 Hurler syndrome at 16 months. We were devastated to what this meant for Myles, since there is no cure, and it being a progressive disorder, but we were determined to do whatever we needed to do for him.
MPS-1 Hurler syndrome is a rare genetic disorder. It is when the body is missing an important protein (enzyme) to break down a sugary substance in the body. When the sugary substance isn’t broken down, it builds up causing problems and can damage the brain, heart along with many other major organs.
Since hurler syndrome had already been damaging Myles body the past 16 months, we started quickly to find a facility that specializes in hurler. Myles started treatment within weeks of his diagnosis. He went weekly for enzyme replacement infusions (ERT) for 5 months leading up to his bone marrow transplant. The transplant isn’t a cure, but it allows Myles to make his own enzyme and slows down the progression of hurler syndrome.
Myles was transplanted at 19 months old and spent a lot of time in and out of the hospital in the following months after transplant. He has had many obstacles in his short life, but nothing is stopping this courageous little guy. Each day we have with him is a blessing!
Please help our family and support the National MPS Society. Every donation will make a difference in the lives of those affected by MPS and related diseases.
Please visit www.mpssociety.org for more information and donate!