Feb 01, 2018
Shortly after birth, the patient was noticed to have decreased tone and difficulty breathing. She struggled to drink from a bottle and would breathe liquids into her airway (aspirate). At 6 months, a G tube was placed. Currently she struggles with chewing and swallowing and is unable to drink out of a cup or straw.
The patient said her first words at 13 months and began walking at 22 months. She gets tired easily (easy fatigability) and makes rhythmic and repetitive movements with her upper and lower limbs (stereotypic movements).
She is currently enrolled in kindergarten in special education. Some of her other symptoms include increased heart rate (tachycardia), distinct physical features (small midface (hypoplasia of midface)), and difficulty controlling her body temperature.
If this participant sounds like you or someone you know, please contact us!
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