So, it’s Thursday 26th October, Mum’s birthday, whoopee and there we both are in the centre’s waiting room all set to get on with the next barrage of tests.
Then the main Doc appeared and asked us to go straight into his room before we did anything else. Oh heck!
So in we both trooped and the Doc asked Mum if Dad was around and could be fetched as he had some news. (let’s face it he wasn’t going to tell us we had won the pools!) Mum said no, as Dad worked in Sheffield, the best part of an hour away, so the Doc had better tell us and, as she said, she had a pretty good idea what he was going to tell us so he may as well get on with it!
So he told us the blood tests he had done yesterday showed I had DMD, which basically meant that my muscles were rubbish.This was because I was missing a gene on my X chromosome which should have made dystrophin which was what made healthy muscles, so basically my muscles would get worse and worse. He said I would be in a wheelchair by about 10 years then my arms wouldn’t work and eventually it would get to my muscles that made me breathe so I wouldn’t be able to! So my life expectancy was late teens to early twenties.
To be quite honest I can’t remember all this, because, as you may remember, I was only 2 years and 11 months. However, as you may expect, my Mum took it ALL in, though she had actually guessed as much from reading her text books the previous evening and what she already knew; ironically she had worked with boys with DMD.
It wasn’t exactly the birthday surprise she had hoped for!
DMD is most often passed from mother to son, but there was no history of it in Mum’s family, but it could be there was a fair chance that any other boys in the family could also have it.
Mum then told the Doc she had another younger son at home (Roger) and she was 11 weeks pregnant (as yet unknown). It has to be said the Doc, who up until then had been trying to keep a calm and sympathetic stance on the news of my Dystrophy, looked a bit shocked; poor man!
So, it was decided that I would stay at the centre with a play person (not sure what that meant, but she was nice and I got orange juice and biscuits so not all bad) Mum was going home to get Roger who would need to be tested and in the meantime hopefully Dad would arrive from Sheffield.
So, about an hour later, the Dracula nurse had got blood out of Roger, tried to get it out of Mum, but her veins weren’t co-operating (stress the nurse said, I think she was just being mean and didn’t want to part with any!) Roger’s blood sample was then couriered by a motor bike to be tested; talk about flash! So hopefully his results would be back later that day. Mum had to go for a CVS test at one of the hospitals in Sheffield on the following Monday morning to see if the baby she was carrying was a boy and if it too was affected. If it was they could choose to abort it and that needed to be decided quickly because once Mum got to 12 weeks of pregnancy an abortion would be more unpleasant. Well I hope you followed all that!
So Mum and Dad, not surprisingly, were a bit at sea without a lifeboat, so like you do, they decided we might as well go to the park and playground in Bakewell with me and Roger. We were well up for that ‘cause it’s a great playground.
So after that it was back home and wait for the phone call about my little Bro.This eventually arrived and we found out that Roger wasn’t affected. To be honest, I could have told them not to bother with the tests because it was pretty obvious that Roger was ok, because all along it was because he was physically better than me that alerted Mum to the fact that something wasn’t right physically with me. BUT I wasn’t going to tell them that because I had been stuck with a needle, so Roger could suffer too!