The story of Josiah
Josiah is 23 months old and been having symptoms since birth!
Starting with 3 infections at 10 days old, which lead to a spinal tap at 11 days old and EEG at 13 days old. We landed in the P-ICU for the first month of his life! Josiah had frequent fevers t-max 105, debilitating joint pain/arthritis where he couldn’t walk, pink eye, extreme sensitivity and discomfort to weather, Raynauds, abnormal swollen lymph nodes and raised red rashes on his eyes. He also had severe iron deficiency anemia.
By 18 months old we had established a high medically complex team of doctors to figure out what’s wrong with our baby. After seeing all these specialists, they decided to genetic testing. 5 genetic mutations came back but the biggest one is a rare deletion gene mutation of the NLRP3 gene. Josiah finally got diagnosed w/ FCAS.
Now he takes monthly injections to live a happy and normal childhood! FCAS is diagnosed 1 out of 1 million people!