Liam was born in 1998 with what are now known as the classic symptoms of Ullrich Congenital Muscular Dystrophy – kyphosis, hands and feet bending back to arms/legs, contractures in his knees & hips, dislocated hips, a high arched palate and protruding calcaneus. At the time, since his hands & feet were so long & his body measured 23 1/2 “, they started with ruling out Marfan’s Syndrome and an assortment of other lesser known diseases. At age 2, we looked into Arthrogryposis since he had the contractures. Ruled out. How about the hyper flexible hands & feet? Ehlers-Danlos syndrome? No. He was tentatively given a diagnosis of “Fiber-type disproportion” because of his muscle biopsy & showed “features” of Ullrich Congenital Muscular Dystrophy. We were told it wasn’t a “true” dystrophy & that we wouldn’t find any information on it on-line. With that sketchy diagnosis, I went on believing it was something he would “grow out of” and get stronger.
Liam didn’t crawl but scooted on his bottom. Eventually he “walked” at age 2 ½, which at most could get him across a room with much effort. In pre-school he got his first walker. He could ride a bicycle with training wheels when he was 4, so I attempted to take him out in the community on that. I was told he couldn’t ride it in the YMCA (I guess only stationary bikes are allowed) and was stopped by a young security guard at the mall (he let us alone when I explained why he had it, but I understood the confusion it would produce for others who might think that their child should ride a bike in the mall). My fellow church members were entertained by the bike and I told our pastor that he had his first “drive through” communion–to my surprise, Liam followed me up one Sunday from the back of the church to the front for communion on his bike!
At age 4 we took Liam to the Children’s Hospital of Philadelphia for a second opinion, only to see the same neurologist who had diagnosed him initially, now at a different hospital. What was different this time was that he consulted with Dr. Carsten Bonnemann who was very knowledgeable on Ullrich CMD. After reviewing his case, he was confident that this was in fact what Liam had. He even introduced us to another family with a daughter also with Ullrich’s who we have been friends with ever since.
At age 6 we got Liam a red, 4-wheeled motorized scooter which was an adult travel scooter with a pediatric seat on it. It was fine for Liam as he could still transfer himself and then used a walker with a fold-down seat (to rest) in his class. Eventually he could stand less and less. He would sit on the walker in school and push with his legs throughout the halls and in his class and alternated with the scooter depending on the location.
At age 9 it was time for a wheelchair. We had prolonged this decision knowing that it would mean a different car and adaptations to our house. Liam was so excited about getting a wheelchair! For me, I was taken by surprise at what a sense of relief I had and a complete sense of acceptance for Liam’s disease once he had the chair. I finally came to terms with having a son who can’t walk and found out it is okay.
The biggest obstacle we face today is that Liam can’t easily get into other people’s homes. Most have steps and even if we can use a portable ramp, oftentimes the play room is in the basement. I know it affects our social life and is a big reason Liam has to work extra hard to find friends to invite over.
As for Liam, he is one of the happiest, most easy going kids I know. He does well at school and makes friends easily. He is on a power chair floor hockey team with other kids and adults like himself which he loves. There he isn’t different and he gets to play his favorite sport!
For a long time I wished things were different for Liam. He faces adult issues at age 10, like worrying that if he gets sick, will he end up in the ICU? His friends who are “like him” have faced serious surgeries and has even had a member of his hockey team pass away as a young adult. At the same time, we have met people we would never have met otherwise, who have impacted our lives greatly. Liam himself is an inspiration to others because of his easy going nature and his ability to handle his disability in stride. He is just a great kid with a joie de vivre which helps us on this unchartered journey that we’re on together.