Nico, our second son, was born in October 1997. During the first months of his life everything seemed normal – he learned to turn over and began to crawl. It was only shortly before his first birthday that we noticed that something looked different from what we were used to watching when his elder brother grew up. Nico did not learn to stand, although he tried very hard to push himself up while standing on his toes. A blood test showed that Nico had an elevated CK-level. We were told that this meant that he had some form of muscular disease. At the neurological department of the University Children’s hospital they performed a number of tests to exclude various forms of muscular disorders. A muscle biopsy finally led to the diagnosis of Pompe’s Disease. The doctors told us that there was no treatment for Pompe’s Disease and that very little was known about the progression of the disease. They also told us that Nico probably wouldn’t reach his twentieth birthday and advised us to make the best out of the time we had. I can still feel the shock of this diagnosis as I am writing this report now.
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