“They do a number on your body and brain. “We tried Milana on one medication after another, with horrible side effects, trying to slow or stop the seizures,” said Kristin. Today, Milana is 9 years old, Angelo is 12, Téa, 11, and little sister Anamaria is now 6. So Kristin stays home with the children while Andrew works as a special education teacher, a position he began training for not long after Milana was born. She must be held during a seizure so she cannot accidentally cause a fracture or otherwise hurt herself. Additionally worrisome is Milana’s brittle bone condition, causing her to fracture easily. She has gastrointestinal issues and must use a feeding tube. She also has several other conditions, including severe scoliosis, a cortical visual impairment and a moderate hearing loss. Recently, she underwent a new round of genetic testing and it was found that she has MED13L (Mediator Complex Subunit 13 Like) haploinsufficiency syndrome, a newly discovered genetic disorder with clusters of epileptic spasms. Milana was diagnosed with infantile spasms, a rare form of epilepsy, and furthermore, her condition had a rare presentation, difficult to detect by EEG. Now thoroughly frightened, Kristin and her husband, Andrew, packed up the family and went to Boston Children’s Hospital on the advice of a trusted developmental pediatrician. It wasn’t long before the doctor agreed, and nearly three months later, Milana was suffering seizures daily. Milana had another seizure two days later. “I’d never seen a seizure before,” she said, “but I knew in my heart that’s what it was.” She packed up Milana and her brother and sister, then 3 and 2, and rushed to the emergency room at Albany Med only to have the doctor send her home, saying it was unlikely to have been a seizure. K ristin Lefebvre (le FAVE) was terrified the first time she saw her daughter, one-year-old Milana, experience a seizure.
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