Apr 29, 2019
Early in life the participant was very healthy with the exception of frequent ear infections and right sided hearing impairment (unilateral sensorineural hearing loss). At age 12, his parents began to notice that he was not growing taller like his peers and he was diagnosed with growth hormone deficiency and decreased testosterone production (hypogonadism). He began to take growth hormone at age 15. Around the same time, he was also reported to have suffered a head injury while playing sports that ultimately resulted in a hospitalization. After his concussion, his family began to notice symptoms such as problems with balance and abnormal speech. The next spring, the participant experienced his first seizure and was identified to have low levels of pituitary hormones (panhypopituitarism) and low levels of thyroid hormone (hypothyroidism).
The participant’s condition stabilized over time, but he continued to have seizures that resulted in severe complications and prolonged hospital stays. He also has hair loss (alopecia), kidney stones (nephrolithiasis), cognitive impairment and abnormal temperature regulation. Currently, the participant experiences cyclic low levels of blood cells (pancytopenia) that require transfusion and gait imbalance resulting in frequent falls. The participant was recently hospitalized for acute respiratory distress due to a suspected viral infection, but has been recovering nicely.
If this participant sounds like you or someone you know, please contact us!
