Josiah, Rare Disease: Familial Cold Autoinflammatory Syndrome (NLRP3 gene mutation)

Josiah J. Cabrera was born three weeks early due to fetal unstable tachycardia (his heart rate was between 190-300+) and my severe health complications during pregnancy. He had to be placed in the NICU for jaundice and heart monitoring, and three days later we were ready to go home. I knew there was something wrong with our baby. He cried all the time and had severely low muscle tone.

When he was 11 days old, Josiah was rushed by ambulance for his first seizure. I was devastated but blessed that he was in great hands. We found out that he had three different infections, plus protein and glucose in his cerebral spinal fluid. After antibiotics, a lot of imaging, and 13 days in the hospital we were ready to go home. I thought the medical stuff was OVER. I was wrong.

Josiah was very developmentally delayed since eight weeks old. He also started showing puzzling symptoms: facial rashes, extreme joint pain, high fevers, swollen lymph nodes, sensitively to weather, and body color changes.
After documenting in a “symptom diary” for 12 months, we were referred to ten different specialists. He was misdiagnosed five times before getting genetic testing done. Finally after 669 days we had our diagnosis, Familial Cold Auto-inflammatory Syndrome (FCAS) with a subset of Raynaud’s disease.

In 2022, the CDC reported that FCAS was only found in 300 people world-wide and it was classified as a rare disease. The only way people are diagnosed is through genetic testing. Josiah is one out of four people in the whole world who has a rare deletion mutation of the NLRP3 gene which causes his severe symptoms such as the Raynaud’s. Raynaud’s is where your hands and feet can’t regulate in cold temperatures and turn purple or while.

Josiah has other diagnoses that we fell onto when getting our answers such as: PANDAS, a neurological physiological defect due to strep infections, Autism Spectrum Disorder, and a blood platelet coagulation defect.
Josiah is only two years old and has had over 300 tubes of blood drawn since birth. I am blessed to be a mother to a rare disease warrior.

The Cabrera Family is blessed to have CMN and their help with Direct Financial Assistance Program (DFAP). We travel five to six times a month to Syracuse for appointments and approximately five to nine times every six months to NYC, Westchester, Boston, Albany, and many other places to help our child. Without their help, I’m not sure where we would be.