Dec 05, 2017
Before the participant was born, he was found to have heart problems (borderline hypoplastic left heart variant, coarctation of the aorta) on an ultrasound. At birth, he had severe heart failure and was started on oxygen. He spent three weeks in the neonatal intensive care unit (NICU). At this time he also had jaundice and difficulty growing (failure to thrive).
At 2 months of age, the participant struggled with reflux and was diagnosed with a hole in his heart (atrial septal defect) with signs of myopathic biventricular dysfunction and coarctation of the aorta. He underwent surgery to repair this at 3 months of age. At 3 years, he was found to have weakness of the left side of his body (hemiparesis) and was slow to meet his developmental milestones.
When the participant was 11 years old, he started having seizures. EEG shows sharp spikes and slowing in the temporal lobe at that time. A few years later at age 14, he had a cardiac arrest after dental surgery. Afterwards he had a severe case of delirium. He had to learn to walk, talk, eat, and swallow again. One year ago he was diagnosed with unobstructed sleep apnea needing oxygen at night.
Recently the participant started having episodes of very sporadic blood pressures from high to low. These episodes come and go during the day and night. He has chronic stomach pain, chronic constipation, and occasional bouts of headaches. He has new symptoms of spondyloarthritis, nephrocalcinosis, thrombocytopenia, and osteopenia. In addition to these problems, he is also shorter than average (4’9”) and has low testosterone. He receives testosterone injections, but these have not helped with his growth.
In 2020, clinicians and researchers identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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