My name is Sarah. My husband Tom and I welcomed Alex in October of 2006, so he’s 2 1/2 now. He also gets tons of love from his older brother Jack who is 9 1/2 and his older sister Katie who is 6. I decided to post here because every time I find any information about dystroglycanopathy, it doesn’t seem to fit Alex. Maybe others are out there who are feeling the same way. If so, I hope this will help.
It’s hard to know where to start, so I’ll just start at the beginning. When we went in for our 20 week ultrasound, Alex only had a single umbilical artery. (You should have 2.) They sent us in for a level II ultrasound and everything looked OK, so they said it’s probably just an isolated incident. He was born looking great. By 7 weeks, when he wasn’t smiling I became very concerned. He was diagnosed with esotropia (when your eyes cross inwardly) and delayed visual maturation. He had eye muscle surgery for the esotropia at 4 months and then again at 13 months. The delayed visual maturation resolved itself when he was 5 1/2 months old — it was like a light switch went off and he could suddenly see. Alex looking at me and smiling is still one of my favorite things.
These were the only issues I saw in that first year. He had no feeding difficulties. He was about a month behind his brother on his milestones, although still within normal range. He could roll over at 2 months — consistently at 4 months. He was sitting at 7 months. He started crawling at 10 months. He has never been floppy. By the time Alex was a year old, he still wasn’t pulling to stand. Immediately after his 13 month eye surgery that changed. That afternoon he was pulling up on everything and crawling up and down the stairs. I figured he had just had some issues with depth perception. By 18 months, he still wasn’t walking or really cruising — or standing without holding on to something — so the pediatrician recommended he be evaluated by our early intervention program. He didn’t qualify because our state requires a 50% delay in combined gross and fine motor skills or a 50% delay in combined expressive and receptive speech. His fine motor skills and cognition were fine and so he would have needed a 100% delay in gross motor skills or expressive speech to qualify.
They recommended that we go to an orthopedist. We did that and he was diagnosed with hypotonia. That doctor recommended we see a neurologist. Through a series of other doctors who ran more tests, we discovered that he had mildly elevated CK and aldolase numbers. We then ended up with a different neurologist who specializes in
neuromuscular disorders. In November of 2008, Alex had a muscle biopsy and an MRI. The MRI came back normal and the muscle biopsy came back with reduced or absent alpha-dystroglycan on most fibers. All the other proteins had normal staining. They diagnosed him with Dystroglycanopathy Congenital Muscular Dystrophy. We are planning on doing the genetic testing in May — if Emory University’s chip test is
available we will do that, if not, his blood sample will go to the University of Iowa.
The good news is he started walking when he turned two and is now starting to run. He is also starting to climb a limited number of stairs by himself. It doesn’t hurt that every time he goes up a stair or a curb he has his own cheering section in his sister and I — even though people sometimes look at us funny for getting so excited that a 2 1/2 year old can climb a step. He also had about a 6 month speech delay at his 18 month evaluation — he continues to improve and has now closed the gap to about 2 months.
Like all of you, not knowing how this will progress is hard on us. When they told us there was no prognosis, no treatment and no cure, we wished he had never even been diagnosed. It’s a helpless feeling.
With all the medical stuff out of the way, I can tell you that he is the coolest kid ever — along with his siblings, of course. He wakes up every day to four people who just adore him. He is just a laid-back happy kid — as most 3rd kids are — and goes with the flow whatever we are doing. He is also a big ham with a good sense of
humor and will repeat anything he does that gets a laugh. He loves trains and basketball and playing at the park. Because he’s doing so well right now, we try to forget that he has this challenge to face. Our greatest hope is that we can find a cure for this disease.”