Liam was born June, 2006 in Denmark. Almost from birth, we realized there was something not quite right, as he was very floppy and did not move his arms and legs much. We raised our concerns with our local GP, who dismissed our fears on many occasions stating that all kids develop differently. However, when Liam was 4 months old, he still had bad head control and was unable to lift his head off the floor when placed on his tummy. So, we eventually got him referred to a pediatrician.
At the first appointment with the pediatrician, blood tests were taken, and we were sent home with the message that Liam probably had Spinal Muscular Atrophy. After 6 weeks of waiting, the test for SMA luckily came back negative, but instead they had found that Liam’s CK count was highly elevated and they now suspected that he had some type of Muscular Dystrophy. We were then referred to a neurologist who was sure that Liam had CMD, based on his clinical examination and Liam’s CK-count. Even though it wasn’t the answer we had hoped for, it was in some ways a relief to get a diagnosis after many months of worry and speculation.
Liam had a muscle biopsy when he was 9 months old, and the results confirmed that he had CMD. We got this news the day before his first birthday. The sample showed that he had normal merosin, but there weren’t enough muscle cells to do further testing so he had another biopsy done at 17 months. However, all that the extensive testing has shown is that Liam’s form of CMD doesn’t match any of the known subtypes and perhaps we will never get a more precise diagnosis.
Liam is a happy-go-lucky little boy, who makes the most of the muscles and strength he has, and doesn’t yet seem to be too frustrated by his limitations. He sat independently at 12 months and started to move around by pushing himself backwards on his bum a couple of months later. He has now mastered pushing himself forwards as well, and has developed his own form of crawling. He is lucky to have an understanding big brother (Sebastian, 5) who is happy to adapt play to suit Liam’s abilities. Liam will start a mainstream nursery in the summer and then a mainstream school when he turns 6.
When he was 15 months old, Liam obtained a small manual wheelchair (Panthera micra) which he uses indoors. Just before his second birthday, he obtained an electric wheelchair (Permobil Koala). It took him a little while to get the hang of his power chair, but now he is in total control, and that has given him a lot of independence. He can now “run away” from us and stop to look at every little thing on his way like all other kids his age would do. Liam has physiotherapy once a week and we have exercises and stretches that we carry out at home. He also has a stander that he uses once a day between 30 minutes to 1 hour to stretch and strengthen his muscles and bones, as well as to help prevent contractures and scoliosis.
We would love to see a cure for CMD in the future and with a professional organization like CureCMD now in place, it definitely looks possible! In the meantime, we try to focus on the positives, and we strongly believe that despite being diagnosed with CMD, Liam is going to have a great life and he will be able to fulfill all his dreams and potentials.