This week’s blog was written by Makenzie Cabrera, mom to Josiah J Cabrera who was born in March of 2021 and lives with the ultra-rare condition, Familial Cold Autoinflammatory Syndrome. Makenzie shares her family’s rare journey with Josiah below!
Josiah J Cabrera was born in March of 2021. The mother instinct kicked right in – I knew there was something wrong with my baby!
From birth, Josiah had puzzling symptoms that didn’t make sense. First was fetal tachycardia and jaundice with a weird facial rash. By 11 days old, we were rushed back into the P-ICU for the first month of his life because of seizures and abnormal CSF and Urine cultures.
My sweet boy did not look like the typical baby or hit the normal milestones. He had hypotonia, was developing behind on all the charts and cried in pain all the time.
By 6 months old he developed more symptoms. Some symptoms were “fevers of unknown origin (103-106 Fahrenheit)”, Raynaud’s Syndrome (hands and feet turn white) swollen lymph nodes, body rashes, pink eye, joint pain/arthritis, extreme thirst, anemia and abnormal blood work.
Josiah went from being a semi-”normal” baby to lacking in everything – getting chronic infections, debilitating leg pain where he couldn’t crawl or walk right, drinking up to a gallon or more a day.
We were constantly in and out of the doctors with limited answers, and getting pushed in so many different directions to specialists. We did a symptom diary for 12 months. I gathered all our lab work, imaging, and all my thoughts into one folder and brought them everywhere.
By the time Josiah was a year old they deemed him a “medical mystery.” Being misdiagnosed so many times, trials of medication, over 200 tubes of blood drawn and no answers. I finally requested genetic testing – I didn’t care how much it costs. Our family needed answers.
Thankfully there was a foundation that supported families with ours and they covered the cost. We went in and did the blood work and it felt like eternity getting the results back.
It took the lab 23 days for the analysis to be complete! On December 8th – we got the results.
Your son has a “rare disease…” Wow, I am not crazy! Josiah’s condition is called Familial Cold Autoinflammatory Syndrome. He has an ultra rare deletion mutation variant of the NLRP3 gene which causes his severe symptoms.
Right now there are only 300 people diagnosed with FCAS worldwide.
My life changed for life after the diagnosis. I felt so many different emotions but relief was a big one – we finally have an answer after 669 days!
Josiah is now a fun, wild spirited, loving 2 year old who gets managed with the Ilaris injection to minimize his symptoms.
He also has bilateral SMO’s for his ankle deformities. Josiah today is in PT, OT, Speech and SPED to get back on track after being diagnosed with Global Developmental Delay and Autism – Level 3.
As a mother who has a chronically fragile, medically complex child I try to always look at the positives.
This journey made Josiah and our family stronger. It taught us to never take our health for granted but to always fight to get better. To stay strong and be united.
Josiah is our miracle. Resilient. Strong. A rare disease warrior.
This is a QR code to my page with good resources about our family, Josiah’s rare disease, our story, and the non-profit group in Switzerland that knows about Josiah’s disease!
