Verified by Tooba

Dima was helped by the analysis! Thanks, Tubers!

Bereginya

Charitable foundation · Perm region

collected

of RUB 46,373

Report ready

Donate to other campaigns

Report

After Dima underwent a genetic study, according to the results of the Genomed laboratory, he was sent by a Perm geneticist for an MRI scan of the brain to confirm or deny neurodegeneration of the brain. Fortunately, the diagnosis was not confirmed, that is, the assumption of heredity for Dima's Strümpel's disease was rejected. Now the Oginskys have made an appointment again and are waiting for an appointment with a geneticist in order to receive recommendations for further treatment, and possibly genetic pre-testing.

Dima goes to school, studies with all children on the usual program, tries to do well. But due to the fact that he has low muscle tone, poor fine motor skills, it is hard for Dima to write, his handwriting is poor, he is hard to orientate himself in a notebook: he cannot write clearly in a line or in a cell.

Dima attends freestyle wrestling classes. Sports classes are necessary for him, they are held on an individual schedule and benefit the boy. Thank you very much to everyone who helped Dima to pass an important test!

Download pdf report

2.9 MB • 21 pages

About the campaign

Dima is lagging behind in physical development. He needs to conduct genetic research to understand the cause of the disease

Dima was born with a very low birth weight, and to this day he lags behind his peers in physical development. Now he is 8 years old, he began to speak only by the age of 4. He has been registered with a neurologist since the first month of life.

Since he was little, the family has been trying to improve Dimin's health on their own: the boy is taken to massages and physical procedures, but all this does not help much. It is hard for the boy to chew, he has impaired sound pronunciation and poorly developed fine motor skills. This year Dima underwent examination - needle and stimulation ENMG (electroneuromyography) of hands and legs, the result: Muscular level of defeat.

Two close relatives in the family suffer from Strümpel's disease - lesion of nerve structures responsible for coordination of movements. And now it is important to find out what Dima has the disease, and genetic research can help. The result of the analysis can help to establish an accurate diagnosis and prescribe a comprehensive treatment of the disease. We ask for your help in paying for the research!