Diagnosis of the child
epilepsy (Dravet syndrome)
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. This disorder is genetic in nature (the SCN1A gene). The treatment prescribed for this disease is aimed at reducing symptoms and their negative impact on the body and quality of life of the patient; there is no surgical treatment. The drug Stiripentol is an orphan drug (aimed at treating a rare disease), it is registered in the USA, the European Union, Israel and other countries, and is the first choice drug for Dravet syndrome.
The purpose of the collection
Purchasing medicinal product Stiripentol (for a two-year course of treatment)
History of the child
Apolinaria was born an outwardly healthy child without any pathologies, but at 10.5 months, against the background of a high temperature, the baby had her first seizure. For the next 3 years of Polina’s life, all viral and bacterial diseases were accompanied by convulsions, and from the fourth year of life, convulsions began to occur regardless of her state of health and body temperature. And every month the number and duration of attacks increased.
Polina underwent repeated examinations at the Republican Scientific and Practical Center “Mother and Child” in Minsk and the Brest Regional Children’s Hospital, and was observed on an outpatient basis by various neurologists, but taking medications prescribed by doctors did not help, and the seizures progressed. By the age of 6, the number of seizures reached from 20 to 30 per night 3-4 times a week. Against the background of frequent seizures and a long recovery period after them, Apolinaria’s speech noticeably deteriorated, hand tremors appeared, and cognitive activity and learning ability decreased. Now the girl is homeschooled.
“In September 2021, we were examined at the Republican Scientific and Practical Center of Neurology and Neurosurgery in Minsk. We were lucky to get to the wonderful doctor Svetlana Leonidovna Kulikova. We took a genetic test, thanks to which the broken gene was found and a diagnosis was made – Dravet syndrome. After the examination, Polina was fitted with a vagus nerve stimulator and new medications were selected. The situation has improved a lot, the attacks have decreased from 4 to 9 per month. After another consultation, the doctor recommended introducing the drug Stiripentol, which is not registered in Belarus, into the treatment regimen for a better result. One package of the drug (which lasts for a month) costs more than 700 euros; Polina needs at least a two-year course. Without your help, we will not be able to provide Polina with medicine and we ask all caring people to help us in the fight against our daughter’s illness!” – the Manilenko family addresses the benefactors.