Dec 12, 2018
The participant had a complicated pregnancy and was delivered by C-section because he was in breech position. The delivery was difficult, and he had the umbilical cord wrapped around his neck at birth. He spent 16 days after delivery in the neonatal intensive care unit (NICU) and had trouble breathing and eating. He continued to have feeding difficulties as an infant and was put on a nasogastric (NG) tube until 6 months of age.
The participant continued to have trouble eating and developed vomiting and constipation issues. He is currently able to eat pureed foods, but not meats. He had surgery to place a G-tube at age 1.5 and, since then, his vomiting episodes have stopped. He also had surgery to release an upper lip tie and tongue tie, which improved his feeding. He had a small bowel biopsy that revealed abnormal thickness and orientation of the muscle layer consistent with myopathic pseudoobstruction.
Currently the participant is unable to walk or crawl and has no words. He did just learn his first sign and currently receives physical, occupational, and feeding therapy. He had a muscle biopsy that showed non-specific finding of mild interstitial macrophage infiltration and very mild myopathic changes.
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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