Jan 25, 2019
During pregnancy, the mother of the participant developed a kidney infection that was treated with antibiotics and painkillers. Ultrasounds revealed that the participant’s legs were hyperextended at the knee, his feet were by his face, and his arms were to the side. After birth, he had trouble feeding and was found to have low blood sugar. He also had absent suck and gag reflexes and had a gastrostomy tube (G-tube) placed not long after birth to help with feeding.
The participant experienced developmental delays early on and did not visually track until 5 months of age. He also was not visually or socially responsive until 7 months when he began vocalizing. Over time he began to express feelings of hunger and responded to his parents by smiling. He had extremely limited social interaction and gave very little feedback when spoken to or played with. He was unable to speak, laugh, bear weight, walk, talk, or eat. He also had involuntary muscle movements not correlated with seizures. He passed away shortly before turning 3 years old.
Clinicians and researchers are investigating the following genetic changes to see if it they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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