Our daughter Jodie is 25 years old and has only recently been diagnosed. Jodie has pLp1 gene deletion also known as Pelizaeus-Merzbacher Disease. Although we now have a diagnosis it still doesn’t help us for the long term. This disease usually only affects males so you could say that Jodie was lucky….it is also usually fatal for males so yes we are lucky in that respect.
Jodie was seen by the top doctors at Camperdown Childrens Hospital and then it followed on at Westmead Childrens Hospital, numerous blood tests, scans, lumbar puncture you name it she had it…..all results came back “normal”. We were told to stop looking for a diagnosis and just take her home and love her….. Jodie is unable to communicate, she is now confined to a wheelchair for all mobility, she is double incontinent, basically all that she can achieve is to finger feed herself. She does attend Day options 5 days a week so that gives me a break for a while during the day…otherwise it is 24/7 full time care.
Although I don’t believe that I will ever find another female with this disease there is no harm in putting it out there and giving it a go.