Jun 03, 2019
The participant was born with multiple heart abnormalities (coarctation of the aorta, bicuspid aortic valve, ventricular septal defect) and was diagnosed with Wolff-Parkinson-White syndrome at 5 months old. Also at 5 months old, he was diagnosed with acute lymphoblastic leukemia (ALL) and was treated with chemotherapy, total body irradiation, and a bone marrow transplant at 18 months.
At age 7, the participant was found to have multiple abnormal bone and cartilage growths (osteochondromas). He had surgery when he was 13 years old to remove an osteochondroma from his spine, which had been causing temporary paralysis in his legs.
The participant is also very sensitive to the sun and will burn very quickly whenever he is outside.
Since early childhood, the participant has had global developmental delay and currently has moderate intellectual disability and autism spectrum disorder. He has an Individualized Education Program (IEP) at school.
The patient’s history and laboratory findings have led to suspicion that he has a yet unidentified chromosome breakage disorder.
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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