Aug 24, 2021
The patient was born early at 35 weeks. During the pregnancy, the patient’s mother had preeclampsia. At about 18 months, the patient was found to have early onset bilateral profound sensorineural hearing loss. Currently she has bilateral cochlear implants.
The patient was adopted from Russia at age 3 and was in relatively good health until age 14. Since then, she has had multiple infections, chronic pain, and other health issues. About 1-2 times per week she has flares of acute pain and has been diagnosed with systemic inflammatory response syndrome. She has been hospitalized dozens of times for severe abdominal pain, mild inflammation of the stomach mucous membrane (gastritis) and esophagus (esophagitis), delayed gastric emptying (gastroparesis), increased heart rate (tachycardia), polycystic ovarian syndrome (PCOS), periodic skin lesions, frequent itching, and vision disturbances. The patient also has no underarm hair and she has reduced sweating.
In 2020, clinicians and researchers identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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