Its been some time since I mentioned about the re-diagnosis business but this is mostly due to a combination of festive holidays and trying to track my notes down from Cardiff.
However, yesterday we had an appointment for Scratch, who has been a late walker and therefore a concern to us. So we met with a genetics doctor from GOSH (Great Ormond Street Hospital) who, after some fun with the family tree, began to look at Scratch, Nuzzle too as they are twins, Monkey as she has some hypermobility – and then looked at me (like a museum relic).
Then she explained about some bits going on in terms of diagnosis techniques that have changed over the years, that actually I should be seen by Queens Square in London but also know that things are less invasive than they were 10 or 20 years ago. The info would be of benefit now not just to myself but to Scratch too, as it can help any possible DNA testing for them. Yes, she said all of this about me.
She suggested starting with a blood test for CK markers on Scratch, and then then gave me a blood test note for DNA storage.
So, I am now resigned to the fact I’m heading for another biopsy but mostly because this will benefit my children now. Probably a needle EMG too, knowing my luck. The only immediate consulation about the impending jabbing was that they offered to take my blood on the childrens ward. They have the freeze spray there. And cool plasters.