Jul 29, 2019
The participant was born early at 35 weeks and had feeding difficulties and breathing issues after birth. At 5 months, he was hospitalized for poor feeding and failure to thrive. At this time, he was also diagnosed with developmental delay. Two months later, he underwent G-tube placement to help with his feeding.
At 15 months, the participant underwent a hiatal hernia repair. Six months later, he was hospitalized with a high fever and abnormal liver function tests. He was found to have gallstones and underwent a cholecystectomy. At two years, he was found to have a heart abnormality (aortic root dilation) and a strong onion-like body odor. He was evaluated by endocrinology, but the cause of the body odor was not identified.
The participant has been hospitalized several times for feeding difficulties and infections. He also had two episodes where he stopped breathing. He has seizures as well that involve arm and leg stiffening. These occur daily, but only at home while sitting.
The participant has been diagnosed with attention deficit hyperactivity disorder (ADHD) and currently receives home therapy and special services at school.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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