My Story

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I was born with intermittent MSUD,and diagnosed at the age of 5 days old through the guthrie card heel prick test. Prior to my birth I had a brother born two years earlier than I was who had MSUD (type uknown) but went undiagnosed , and he only lived to just over a year old. It seems likely that a vaccination for the measles triggered an episode of MSUD, and took his life. Because of what had happened with him I believe my MSUD was picked up more quickly as it sent alarm bells off at the laborartory when my amino acid levels weren't normal.  For the first five years of my life I was in and out of hospital around 23 times with various illnesses that triggered my MSUD. Many times my parents were told by Drs to say goodbye to me, as they were convinced I was not going to pull through. I had many epsiodes in hospital where I had loss of consciousness, and fitting, but I must have been a fighter because I pulled through. It has been almost 20 years since I had an admission to hospital with MSUD.