Male, age 18, with global developmental delay, autism, severe eczema, and multiple congenital anomalies
Feb 17, 2022
The participant was born via C-section at 38 weeks old. Shortly after birth, he had jaundice and twisting of the neck (torticollis). As a toddler, his speech and other developmental milestones were delayed. He also had frequent nosebleeds as a child.
He developed chronic eczema at around 5 months old and has had frequent flare-ups throughout his life with no known triggers. He has severe allergies and frequent skin infections which are helped by IVIG infusions. At age 8, he was clinically diagnosed with Neurofibromatosis type 1 based on skin findings (café au lait spots, axillary freckling). Later, he developed a tumor under his eye (plexiform neurofibroma) that caused drooping of the eyelid (ptosis). Genetic testing for the NF1 gene was negative.
The participant was also diagnosed with Elher Danlos Syndrome Type 3, POTS and fibromyalgia. He experiences pain due to a lower spine and tailbone deformities. Treatment has included saline injections and may require surgery in the future.
The participant has autism and lives with chronic fatigue, memory loss, migraines, constipation, iron deficiency, ADD, and anxiety. He also lacks the ability to sweat (anhidrosis) and has been experiencing upper gum infections. He sees a speech therapist, physical therapist, and occupational therapist for support. He has a carnitine deficiency and has many allergies to both foods and environmental agents, including polysorbate 80, that he carries an epi pen for. The participant also uses a CPAP machine due to restless leg syndrome and is being evaluated for narcolepsy.
If this participant sounds like you or someone you know, please contact us!
