Ive just finished my third daily treatment for this week and although my doctor is only supposed to attend this daycare centre on Thursdays, for some reason he popped in to see me today.
He seems to be pleased with the progress I've made
.
Mondays blood tests were not as good as expected, reds, whites and platelets all low. Biochem was awful. Potassium, phosphate, calcium, protein, albumin, globulins all low and as usual raised liver enzymes.
All in all most of the blood test results came back highlighted in red. But after just two extra doses of copper and tweaking the steroids my tests are a lot better. Only low whites (slightly) and platelets (went down further for some reason), reds recovered nicely and Hb came up too. Biochem is better. Still a lot of abnormal results but generally improving.
My doctor told me today that I can hopefully start tapering the Fludrocortisone by the middle of next week. He said it has to be slow because I'm on both hydrocortisone and the Fludro at the moment and he doesn't want to cause adrenal insufficiency.
I think I'm improving neurologically. It's hard to tell. It seems as if it's two steps forward and one step back but I'm convinced I'm regaining a bit more function. Plasticity is a wonderful thing. I can actually walk two or three steps if I hold onto something (on my good days). Just when I get confident things are coming along nicely something brings me back to reality. For instance, I fell and put my right hand out to catch myself and I've hurt my wrist and now I'm in a brace, it makes it difficult to use the wheelchair. Then sitting in daycare for many hours at a time increases the spasticity in my legs and I have to take muscle relaxants to ease the spasms, but the relief after the spasms subside is wonderful.
I was told today that they have definitely attributed my copper deficiency metabolism problem to the chromosome deletion so at least after 9 years of investigations and treatment we finally know the root cause of the problem. It doesn't help the condition, treatment or outcome but hopefully it will help children born with this deletion because now they know to test copper levels. Previously they just attributed the neuro degeneration in these children to the whole syndrome but they are looking at it differently now. I almost feel proud that in some little way I just might help some child from dying from progressive neuro disease.
I'm incredibly tired I've been up since 5 am and it's after nine pm and do it all tomorrow again.
Goodnight.
Chirley