So like i said i got the letter from dr Pelidis on tue, it's always so much clearer when its written down. When we're in her office none of it makes sense etc.
Anyway, I can't remember if I is aid that they found a mutation or something in one of her ribosomal genes??? Well they have and Dr Pelidis said it was one that was yet unpublished, but I've found it documented loads of times.
Basically they now know of 9 ribosomal genes that are mutated in DBA patients. They only have 1 mutated gene and they a account for about 50% ish of DBA patients.
Reagan has a mutation of RPL35a, she has a heterozygous mutation which means that only half ot it works but with out that half working the other half cant work either.........at least I think that's what it means.
I've also found out that once they have knowledge of a mutated gene that is a 100% confirmation of DBA.
Reagan has still got some kind of tummy bug, that's been a wk now. Peyton is pretty much the same though so it's obviously hanging about. But it means that Reagan is going through 2 outfits a day and 2 babygros a night. Which means midnight changes......and bedding changes. The other day I had no change of clothes for her so she had to go round Costco naked with her fluffy snow suit on. She kept sneaking her arm out and exposing her self!!! Luckily it wasn't too cold!!!
She's off her food now, so the little progress we did make has now gone! She's not even eating biscuits!
I've. Early finished The Match, it has taught me so much. It's pretty gruelling and horrid to think of that poor little girl going through everything that she does. It's hard to imagine that Reagan could be in her shoes one day and Alex and in in her mum and dads. ATM things aren't too bad for Reagan but it seems that this may be a false pre tense.
We still don't have the results back to tell us if anyone is a match for Reagan. I spoke to Dr Pelidis on Friday and she chased them up for us, they said early this week hopefully. So if I haven't heard anything by mid afternoon Tuesday I'll call her again.
What she did have though was some more results back from all our blood tests.
All of us had a good HB levels, I may have already told you that. All of us had normal sized blood cells, DBA patients have enlarged ones. And our ADA levels were done, DBA patients have elevated ADA levels.
Reagans was done just before her last transfusion, ideally it should be dome be before ever having a transfusion but even so reagans were significantly elevated. It doesn't say what they were.
Alexs was 78, either Cade or kaylums was 97, mine was 100, Kennedy was 104 and Peyton was 127. I cant remember whist the other one was but it was normal.
It should be between 60-100 (I thunk that's right, definitely not above 100) so I'm borderline but Kennedy and Peyton are high. Dr Pelidis said this may mean nothing but it may also imply that we are carriers of DBA. I'm not sure yet if they'll look into tat further.
Hopefully next time I blog it will be to say one of the children is a match!!!!!!!!! Fingers crossed anyway.
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