Monday 15th November

We went to see Dr Burns today - I slept for a while while Mummy and Daddy caught up with him about how my drugs are working and what we'd done last week. I also had to give more blood for Dr Morris to look at on Wednesday.
I felt Mummy stroking my hand and tummy which woke me up but when I did, she was crying. Dr Burns and Dr Morris had talked and both agreed that they were concerned that the fits did mean that I was perhaps on the more severe scale of the Zellweggers spectrum, which means as Mummy suspected, I may die sooner than we all thought. Dr Burns was talking to Mummy and Daddy about needing to start to think about what level of support I will need and at what point I may get so ill that I will have to go to hospital and may need a machine to breathe for me. That was not a nice thing to hear. We are all very, very, sad today.

When we got home from the hospital there was a letter from Doctor Morris explaining that the clever scientists had been able to identify the part of the bad gene responsible for my illness. They did this from taking a skin biopsy from my thigh when I was last at Alder Hey. The 'mutation' as they call it is in something called the PEX1 gene. All genes have two copies and they cant identify the other one so they are sending it to more scientists in Amsterdam. This wont help me :-( - but It could help Mummy and Daddy if they were ever to have another baby because it is a very high risk that, (1 in 4 chance) of this happening again. This makes everyone even more sad.


Here comes the science bit - The PEX1 gene provides instructions for making a protein called peroxisomal biogenesis factor 1 (Pex1p), which is part of a group of proteins called peroxins. Peroxins are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. Pex1p enables other peroxins to bring enzymes into the peroxisome.

http://ghr.nlm.nih.gov/gene/PEX1