Today we had a follow up with our neuro Dr Simon Williams at PMH. A fantastic Dr with a lovely manner who is also very thorough- as I found out today.
He went through our file and found my blood test results from a month ago when we both got tested. I had increased levels of MMA and homocystines. Both of these indicate metabolic disorders. Miss L had a B12 injection in April, well 2 actually but her levels a month ago showed she was low again.
He then rang our Paediatrician Dr Lindsay Adams and they talked about the past few test results. Love a Dr who remembers everything about your case without reading a file! Poor Lindsay has known me for 6 years and we have seen him a lot in that time. He and the neuro both spoke to the scientists at PMH including Barry Lewis who was following the case and they all agreed that the 2 of us must go for further tests.
So far all signs are pointing to an intrinsic metabolic disorder- which is genetic.
I had to go straight away and get Miss L tested, more blood taken. This will then be referred to hematology. I was told to see my GP and get a referral as well and he would be sent my blood tests.
So we now have a pathway....better than nothing but not one I wanted to go down.
I'm looking at it in a positive light for now as if nothing had been found poor Miss L could still be suffering.
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