Medical Mystery Turned Into a Rare Disease Warrior
Last updated: August 2023
Josiah J is a wild spirited two-year-old who has familial cold autoinflammatory syndrome (FCAS). When I was pregnant with Josiah I developed a lot of complications, but a mother's intuition is NEVER wrong. I knew there was something wrong with my sweet baby boy.
Early warning signs
Josiah was born a few weeks early due to fetal tachycardia and jaundice but also an atypical rash. Within 11 days we were back in the P-ICU for seizures, 3 different infections via his urinary tract, and abnormal CSF tap. Within the months ahead it seems like the problems weren't going away. He developed Raynauds syndrome (hands + feet turn white and purple in cold weather), sensitivity to extreme coldness, fevers of unknown origin between 103-105 degrees Fahrenheit, arthritis/joint pain, swollen lymph nodes, anemia, extreme thirst, body/facial rashes, abnormal blood work and so many other weird things.
This or That
Have you had to advocate for yourself in a medical setting?
The appointment that changed everything
Finally, after pushing for genetic testing, seeing 10 different doctors, and doing a symptom diary we got our diagnosis of a rare disease. Josiah has an ultra-rare deletion mutation of the NLRP3 gene variant. There is no cure for FCAS but long-term medical treatment of biological injections is available- he is on Ilaris.
He also has Autism and is nonverbal. Josiah was deemed a medical mystery for majority of the 2 years of his life. I am thankful for genetic testing.
How often do you run out of spoons?