Nov 13, 2018
The participant was born at 37 weeks and spent time in the NICU due to low blood oxygen levels caused by a c-section delivery and trace amounts of fluid in the lungs. It was also discovered that he had a backflow of urine into his kidneys (vesicoureteral reflux), which was surgically corrected. At age 3 months, the participant had his first seizure. His seizures did not improve after trying a variety of medications. The participant currently has 25-35 seizures per day. At 1 year, he was diagnosed with cerebral palsy as well as developmental delay. At age 6, he was diagnosed with Lennox-Gastaut syndrome.
At age 14 months, the participant had a gastrostomy tube (G-tube) with fundoplication to assist with feeding and at age 18 months he had a procedure to decrease the amount of fluid in his kidneys (hydronephrosis). At age 5, the participant had reconstructive hip surgery on both hips. In addition, he has restricted movement of the tongue (ankyloglossia, short lingual frenulum), difficulty breathing (apnea), gastroesophageal reflux, underdeveloped hip joints, abnormality of the heart (right bundle branch block), and difficulty swallowing (dysphagia).
The participant rolled over at 4-5 months and can communicate through facial expressions and making sounds. He has an older sister who has similar symptoms and is thought to be affected with the same condition.
If this participant sounds like you or someone you know, please contact us!
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