Help Askat fight DMD
Duchenne Muscular Dystrophy is a devastating rare genetic muscle-wasting disorder. It affects 1 in 3,500 boys born the world. It is caused by a mutation in the gene for the protein dystrophin.
https://gulfnews.com/uae/dubai-based-mom-struggles-with-sons-medical-treatment-needs-dh1-million-worth-of-medicine-1.1574246345498
Medical treatment
The new treatment will help Askat
The new treatment masks the exon 53 and skips it:
New medicine - Exon 51 skipping by Sarepta pharmaceutical
For Askat, the exon 52 is missing.
His condition
The dystrophin gene is our largest gene. It has 79 exons which are joined together like the pieces of a puzzle.
His condition is declining
It's devastating to see your child loose the power, especially in boys now that at this age of early teens they should be active, but instead he is getting weaker. The protein which protects the muscles is not generated.
Exon 51 can not join up with exon 53, which prevents the rest of the exons being assembled. For the dystrophin protein to work it must have both ends of the protein. Therefore, this mutation results in a completely non-functional dystrophin protein and the severe symptoms of Duchenne muscular dystrophy.
Exon 51 can now join up to exon 54 and continue to make the rest of the protein, with exons 52 and 53 missing in the middle:
This treatment will halt the progression of the symptoms of Duchenne muscular dystrophy.
Cost of the treatment
The quotation we got from the local pharma company was around USD 400,000 after the discount. Original cost is somewhere around USD 700,000
We have reached out and visited many local charities, but all in vain. They refused to help. It seems they rather help many people with less cost instead of one person with big cost. Also many other charities work with organisations only but not individual cases. Our health insurance didn't work as well.