Diagnosis of the child
congenital (congenital) myasthenic syndrome caused by a compound-heterozygous mutation in the CHAT gene, involving the muscles of the extremities
Myasthenia is a chronic autoimmune, neuromuscular disease, manifested by muscle weakness and pathological muscle fatigue. Even the simplest actions lead to rapid fatigue, when the patient is simply unable to move. Congenital myasthenic syndrome (CMS) is caused by a genetic defect, due to which the reliability of the conduction of excitation from the nerve to the muscle is impaired.
The purpose of the collection
purchase of Firdaps
History of the child
When Ivan Skoda was a year old, the parents suspected something was wrong: the child had just begun to walk, but the gait was strange, waddling. In search of a diagnosis, the family went through a lot of doctors – from an orthopedist to a neurologist, numerous examinations in hospitals.
Born in 2009, the youngest son, Ilya, began to show the same symptoms as his older brother. And only in 2019, doctors suggested the presence of a genetic disease, the symptoms of which are slightly more pronounced in the youngest son. Parents at their own expense made a genetic analysis, which confirmed the diagnosis. At the beginning of 2020, doctors recommended taking the expensive drug Firdaps, which helps the nerve impulse from the brain to get to the muscle. With the help of UNIHELP, thanks to the donations of our philanthropists, children began to receive the right medicine.
“Positive changes were noted almost immediately, from the smallest doses. Fatigue decreased, walking time increased, hands and eyes became less tired. Vanya was able to go for walks on his own, ride the bus on his own. Ilya began to move not “from bench to bench”, but like an ordinary child, not falling from fatigue, – says the mother of Ivan and Ilya Evgenia Skoda. – The drug Firdaps does not “repair” a broken gene, it works “here and now” and helps the nerve impulse from the brain to get to the muscle. Therefore, you need to take it constantly, all your life. Doctors recommend taking 6 tablets daily for each of the children. But since the drug is extremely expensive (about 2900 euros for a pack of 100 pieces), we settled on 4 tablets per day for each. Then the inability to get the medicine made us “save” the pills. Thus, it turned out that even 2 tablets a day allow children to feel much better than without them. If the drug is discontinued, my children will inevitably deteriorate and lose their independence. The Republican Council twice confirmed the recommendation to continue taking Firdaps, but the Ministry of Health, in response to our request to ensure the purchase of Firdaps at the expense of the budget, replied that this was possible only at the expense of personal funds or other sources not prohibited by law. But we ourselves are not able to raise funds, and therefore we again ask you for help!”
All funds have been raised (15.09.2023).