A trip to America was a daunting idea. Not only had We never been outside the country, but the cost of such a trip was immense. We are not a wealthy family, don't get me wrong, we have enough to get by on but a trip to America was out of our means. We decided to approach the local Round table service club to see if they could assist in anyway. A huge fund raising project was launched in order to try raise enough for the trip over to America.
Suddenly we were public domain, both from a negative and positive point of view. Response to the fund raising was phenomenal, people opened their hearts to our plight and the money started coming in, while other people would peer into our shopping trolley to make sure we only bought the cheapest brand of product available. Within only three months enough funds had been raised to cover the cost of our trip to America and in June of 1997 we arrived at Johns Hopkins hospital in Baltimore. This was the only centre concentrating on AT in the world at that stage. After lots of blood tests, physical testing and prodding and consulting we were given a diagnosis.
"We are not sure what your son has" came the answer. It seems that George's alpha pheta protein level was not raised enough in order to conclusively diagnose AT but that his movements, drooling and speech all indicated AT. Also the young age at which this disease presents was also in favour of the AT diagnosis. In simple terms let me explain the name of the disease. "Ataxia" means to be un-co-ordinated while Telangiektasia refers to faint red blood vessels which appear on the soft skin behind the ears, around the eyes and on the cheeks. These lines generally become visible from the age of 9 or 10 years of age. At this point I must tell you that the AT clinic at Johns Hopkins was very well co-ordinated and all the staff were very professional.
Home was the next stop, to carry on life with the huge amount of medical info we had been armed with. This info has been vital to us over the years and we draw on it daily even now nor than 14 years down the line. There is however always something which can not be planned for. Those of you who are lucky enough to have children who are in their teens will know that adolescence is a huge challenge for anyone. Now try hooking that up to a teenager who's only ambitions are to go out and be as wild as he is supposed to - but does not have the physical ability to keep up with his peers. What do you end up with? - AAAAARGH!
George is now 16 years old, his movements have become very unco-ordinated and he needs to have help balancing. He uses an electric chair to get around outside. What does he want most? The same as any 16 year old hot blooded male. Long legs, blond flowing hair and a decent size chest all tucked into a mini skirt. Getting the picture?
The red lines have never appeared so in June 2009 we saw a neurologist who cast doubt on the diagnosis of AT. We had an MRI of George's brain done and the atrophy of the brain so far is not consistent with that of AT, so now we have a diagnosis of "Spino Cerebelar Degeneration". The problem is that this diagnosis is very broad and incorporates a wide spectrum of different ataxia's, each with slightly different problems.
This diagnosis had a bad effect on all of us as we felt that we no longer had a specific name for the disease. George went into the worst depression he ever experienced. We were all so very lost!
No comments:
Post a Comment