background participants

Participant 193

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 18, with global developmental delay, autism, severe eczema, and multiple congenital anomalies

Date of Report

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.

Symptoms / Signs
  • Itchy and inflamed skin (atopic dermatitis)
  • Mild global developmental delay
  • Auditory processing disorder
  • Autism
  • Sleep disturbances (mild sleep apnea and restless leg syndrome)
  • Large head size (macrocephaly)
  • Skin sensitivity to light (cutaneous photosensitivity)
  • Flushing
  • Heart abnormality (aortic regurgitation)
  • Asthma
  • Incontinence
  • Low muscle tone (hypotonia)
  • Autonomic nervous system dysfunction (dysautonomia)
  • Imbalance of fluids in the body (diabetes insipidus)
  • Immune system abnormalities (low IgG)
Current Treatments
  • Albuterol, ProAir inhaler (asthma)
  • Alclometasone
  • Azelastine
  • Aprepitant
  • Bisacodyl
  • Bryhali
  • Budesonide
  • Cetirizine
  • Cholecalciferol
  • Citalopram
  • Clindamycin
  • Clobetasol
  • CPAP machine
  • Desmopressin
  • DDAVP Nasal Spray
  • Elidel
  • Esomeprazole
  • Eucrisa
  • Fludrocortisone
  • Fluticasone proprionate
  • Hydrocortisone
  • IVIG infusions
  • Karbinal ER
  • Ketoconazole
  • Levetiracetam
  • Methylphenidate HCl
  • Montelukast
  • Mupirocin
  • Pimecrolimus
  • Polyethyline glycol
  • Pramipexole
  • Red light dental therapy
  • Senna
  • Saline injections
  • Triamcinolone
  • Urea
Prior Treatments
  • Nasal surgery
Considered treatments
Previously Considered Diagnoses
  • Legius syndrome
  • Mitochondrial disease
  • Neurofibromatosis type 1
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.