Masha underwent an important genetic study

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Fundación Moscow

Masha grew up to be a healthy girl, but at the age of 4, she had her first seizures. The tests confirmed that she had epilepsy. Despite her illness, Masha loves to cuddle, dress up, create hairstyles, and dance. For the past year, she has been home-schooled. She has been medically exempted from attending kindergarten and her favorite dance studio because she has been experiencing seizures every day for over a year. Masha has now undergone a genetic test called exome sequencing. This analysis can provide an answer on how to continue fighting and restore Masha's childhood without seizures.

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Masha needs genetic testing

Masha was born and grew up as a healthy girl. But at the age of 4, her mother first noticed something strange: she would start "staring" at one point for a long time. These "episodes" did not stop and became more frequent. Medical examinations confirmed it was epilepsy. Despite her illness, Masha loves to hug, dress up, invent hairstyles, and dance. Masha is also the family's main doctor: she has a whole collection of medical accessories and dreams of having a real doctor's costume. Masha has two older brothers and a very little sister. Masha is still a child herself, but she has so much adult-like love and attention for everyone around her. For a year now, the girl has been homeschooled. She has a medical exemption from kindergarten and her beloved dance studio. Her dad works a lot and is rarely home, so the girl spends all her time with her mom. The main problem now is that for over a year, Masha has been having daily staring seizures (absence seizures). To find the right therapy, it is necessary to conduct a genetic test. This test may provide the answers on how to fight the illness further and give Masha back a childhood without seizures.

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