Nico, our younger son, was born in 1997. During his first months everything seemed normal – he learned to turn over and he started to crawl. It was only shortly before his 1st birthday when we noticed that something looked different than in his elder brother. He did not learn to stand, although he tried very hard to push himself up while standing on his toes. When we told his pediatrician about our concerns, he told us that we should just give him time. But we could see that it was not a matter of time but that there was something wrong and that it was not an orthopaedic problem. First of all we went to see a physiotherapist. After a couple of weeks, she suggested to consult his pediatrician again to examine him for metabolic or neurological diseases. In the blood test, Nico had an elevated CK-level, which meant that he had some form of muscular disease. We went to the neurological department of the children’s university hospital for a diagnosis.

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