Jun 14, 2021
The participant was referred to the UDN due to a complex history including tall stature, recurrent joint pain (arthralgia), and immune deficiency. She also has back pain and was previously been found to have Bertolotti syndrome and slipped vertebrae (spondylolisthesis).
At 5 years old, she was found to have inflammation of the blood vessels in her eyes (retinal vasculitis), which was treated with methotrexate for 1.5 years. The participant had two occurrences of hepatitis while taking methotrexate and had one occurrence after she stopped taking it. She has a history of abdominal pain caused by multiple occurrences of scar tissue in her abdomen (abdominal adhesions).
At 8 years old, the participant developed increased muscle weakness and was diagnosed with myasthenia gravis, which she is currently being treated for. She was diagnosed with an autoimmune brain disease (Hashimoto encephalopathy), which caused a sudden onset of memory and attention difficulties. She is also undergoing treatment for scar tissue buildup in her abdomen (abdominal adhesions).
Clinicians and researchers have 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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