Assol took an important genetic test

Sodruzhestvo

Fundación Moscow

Assol was born healthy, but by the age of one she still was not crawling, standing, or speaking. Her mother worked with her and attended physical therapy sessions, but there were no results. At 1 year and 10 months, she had her first epileptic seizure, and at 2.3 years old she was diagnosed with 'organic brain damage.' Rehabilitation brought some progress, and the girl took her first steps, but then her condition worsened. Later, she was diagnosed with epileptic syndrome, severe speech and intellectual delay. Now the girl is 9 years old. She does not walk or speak. She often has daytime seizures. Recently, the girl had her blood drawn for whole exome sequencing to search for a mutation that caused the epileptic seizures. This is a genetic test that will help select an effective medication for the epileptic seizures. Now they are waiting for the results, and hoping that an answer will be found.

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Assol needs a genetic test to make an accurate diagnosis and choose the right treatment

Assol was born healthy, but by the age of one, she still couldn't crawl, stand, or speak. Her mother worked with her and attended physical therapy sessions, but there was no improvement. At the age of one year and ten months, she experienced her first epileptic seizure, and at two and a half years, she was diagnosed with organic brain damage. After undergoing rehabilitation, Assol took her first steps, but her condition began to deteriorate. Later, she was diagnosed with epileptic syndrome and severe speech and intellectual disabilities. The girl is now 9 years old. She does not walk, does not speak. She often has daytime seizures. Due to osteoporosis and scoliosis, Assol often lies down, cannot sit for a long time. At the same time, Assol is very affectionate, she loves her mother and brother, loves listening to music and swimming in the pool. Epileptologists recommend a complete exome sequencing: a genetic analysis that will help to choose an effective drug for epileptic seizures. The analysis is expensive. My mother is raising two children on her own, so she needs help with the rent.

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СимбаКемранРозовый ПеликанТигровая Акула
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