Jun 05, 2023
The participant was born at full-term after a pregnancy complicated by maternal hypertension and gestational diabetes. During the first few days of life, the participant was noted to have jaundice, a heart murmur, and a heart defect known as a ventricular septal defect (VSD). At 6 months of age, he was diagnosed with a bicuspid aortic valve.
Growing up, the participant met most of his milestones. He was walking and talking at an appropriate age. At age 4, he was diagnosed with a brain malformation (Chiari malformation) that caused frequent headaches, especially when bending over or lifting something heavy. A few years later, the brain malformation was treated with two surgeries. He was also diagnosed with drooping of the eyelids (ptosis) around this time.
The participant’s headaches are still persistent to this day. He now experiences neck and spine pain. His mother has noticed he feels anxious, which has led to aggressive behavior and feelings of depression. These symptoms have been treated with medication.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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