As the last two posts were bitty, I thought I would explain what Joe diagnosis now is
(for anyone who is interested) He has Barth syndrome or x linked cardio skeletal myopathy if you want to give it its posh name, it means he has cardiomyopathy an enlarged heart which means five heart drugs a day, skeltal myopathy hes muscularly very weak and floppy and neutropenic which means hes a real target for infection but he is very gorgeous.
the hardest thing still is getting my mind round the mortality rate with Barths there are adults with it but very few and overall there are only 120 ish cases in the world.
luckily we have an amazing team of doctors at the Evelina caring for us so we are in safe hands.
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2 comments:
well, I'm glad you've got good doctors but how difficult it must be to have a baby with something so rare - can't be much in the way of support and you'll be blazing your own trail I suppose.
How is Harry taking all of this? It must be tough to have a baby sibling who needs so much attention.
Hugs.
Harrys coped very well so far we have had psychology support and we are being refered to the hospice at present and the support for siblings is very good there.
There is a very good foundation for Barths famillies so good even the consultants use them and all the reasearch comes out of there labs. Due to there assay machine once the nutropenia had been spotted we had a diagnosis in four days the treatment is all supportive and very carefully balanced so we are all very sleep deprived, but considering in January he was give just hours hes fighting away and writing his own rule book which I pray he continues to do.
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