girl with a rare genetic disease Canavan
(The story of Ekaterina Protasova - Olga's mother)
Olga was born on November 3, 2017.
Up to 3 months, Olga grew and developed as a normal healthy child, but by the age of 4 months she did not begin to hold her head.
We went around many doctors, passed tests and passed all possible examinations. And only at 7 months old Olga was given a terrible diagnosis - Canavan disease. This is a genetic disease characterized by a progressive lesion of nerve cells in the brain related to leukodystrophy. When leukodystrophy occurs the destruction of the myelin sheath of nerve fibers. That is, a mutation in one gene does not allow a substance that is involved in the process of myelination to be produced, which does not form a new white matter of the brain and acetyaspartate accumulates, causing degenerative processes that turn the brain into a sponge.
The forecast is extremely unfavorable - most of these children do not live to 10 years. Olya does not know how to walk, crawl, sit, cannot play with toys, she cannot even hold her head ... But at the same time she is very smiling, she likes to walk, look at different objects and communicate. Olga really wants to learn everything, but can not ...
A group of scientists from the United States has developed a method for treating this disease - gene therapy. This is a new gene platform developed 4 years ago.
The correct version of the ASPA gene is transferred to the brain by an adeno-associated viral vector and inserted into the DNA at the site of the defective gene. After therapy, an enzyme is produced that breaks down acetyaspartate and participates in the process of myelination, the child’s brain ceases to collapse and begins to develop, the child acquires all the skills that he could not master before. The sooner the therapy is carried out, the better effect of the treatment can be obtained.
Unfortunately, due to the fact that Canavan disease is very, very rare, pharmaceutical companies refused to finance the development of research and drugs ..
In the United States, a family with two such children organized a campaign to raise funds for the treatment of children; they were joined by parents of such children from other countries. Most recently, the FDA has given permission to treat children, but because of their demands, the cost of the viral vector has multiplied.
We are ready to take in the program and cure Olga, but the cost of treatment is $ 1.140.000 .... Huge amount ...
This is a chance for Olga to become healthy! Therefore, I appeal to you! Please help save Olga!
Whoever can, we welcome any help!