So our little Trey has been diagnosed with a single deletion of exon 52. With that and all the research I have done I understand that he needs to skip exon 51 or 53 to become 'inframe'...and I also understand that research is currently being done for boys with this deletion.
A huge question I do have is I was told that if a child is missing exon 52 or any higher then that then they are missing isomers in their brain of DP140 and DP260. Little Treyman is very bright but it does seem to take him longer to 'get it' then what I feel is normal...although he does go to school and is doing amazing. Just wondering if anyone knows what in the world these isomers do, and I guess what missing them can cause...
If anyone can help that would be great, although I feel like I am 'researched up' since the 2 months we have known of this, I still feel very confused at times...
Thanks so much! Cori
You need to be a member of PPMD Community to add comments!
Join PPMD Community