Apr 12, 2019
Shortly after birth, the participant had difficulty growing (failure to thrive in infancy). Testing at this time revealed delayed gastric emptying (gastroparesis) and severe acid reflux (gastroesophageal reflux). Surgery was performed and a nasogastric feeding tube was placed to help support his growth. The participant experienced recurrent ear infections (recurrent otitis media) as well as obstructive sleep apnea.
At 2 years old, the participant began having episodes of low blood sugar and high ketones (ketotic hypoglycemia) that resulted in multiple hospitalizations. He was also identified to have a variety of kidney abnormalities (left hydronephrosis, cystic dysplastic kidney, stage 1 chronic kidney disease) and obstruction of the urethra (stenotic meatus). Around the same time, he started walking and running with his feet pointed inward (gait disturbance).
Some of his additional symptoms include a drooped eyelid (congenital right unilateral ptosis), high blood pressure (hypertension), weak cartilage in wall of the trachea (tracheomalacia), inflammation of the esophagus (esophagitis), and a tissue bulge in the abdomen (inguinal hernia).
If this participant sounds like you or someone you know, please contact us!
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