Before having my son Josiah, I had minimal knowledge about autoinflammatory diseases and how they work. Growing up, I knew I had Juvenile arthritis and it was managed by my general pediatrics until I switched to an adult rheumatologist but I wasn’t taught or exposed to the medical knowledge and terms like I am today as a mother, and a 23 year old patient.
I had my son Josiah at 20 years old and since birth he had many complications. Josiah was born jaundiced, had fetal tachycardia (high heart rate in fetus / newborn) and had a facial rash. After that it became frequent infections, clockwork fevers, sensitivity to cold and heat, not hitting milestones plus so much more. After being misdiagnosed 5 times and 22 months of suffering, our son Josiah was diagnosed with a rare genetic autoinflammatory disease called Familial Cold Autoinflammatory Syndrome. Familial Cold Autoinflammatory Syndrome is a genetic disease from the NLRP3 gene that codes Cryoprin. This disease is an autosomal dominant trait so that means each child has a 50% chance of inheriting this disease. FCAS is extremely rare, occurring at a rate of 1:1,000,000 (Hoffman, n.d.).
August is autoinflammatory awareness month. In my own terms, I consider autoinflammatory diseases immune system killers. In medical terms, autoinflammatory diseases refer to problems with the innate immune system’s reactions. Immune cells target the body’s own healthy tissues by mistake, signaling the body to attack them. This can cause intense episodes of inflammation that result in such symptoms as fever, rash, or joint swelling. These diseases also carry the risk of amyloidosis, a potentially fatal buildup of a blood protein in vital organs (Autoinflammatory Disease Types | NIAMS, n.d.).
With these autoinflammatory diseases there is no cure but there are ways to treat them. My son Josiah is on an IL-1 biological injection called Anakinra (Kineret) but there is also Ilaris, and Rilonacept. Some others will also take oral medication such as colchicine or naproxen to balance breakthrough flares.
Autoinflammatory diseases are managed by several specialty doctors such as rheumatology, immunology, GI, hematology, ENT, ophthalmology and several others if needed. Like Josiah, usually kids and adults with these rare diseases get frequent blood work to track their liver, and kidney enzymes but also their inflammation in the body. If untreated it can be detrimental to their health.
In 2023 I had a proclamation placed for our city to declare August as Autoinflammatory awareness month. I reached out to our city council and the mayor to explain why one of their youngest city citizens has a rare genetic disease and we should raise awareness for these types of conditions.They were very open and loved hearing Josiah’s story so they granted us a proclamation in front of the city town hall. It was a beautiful experience.
Having a son who now sees the rheumatologist more than I do made me realize there is a huge need for more research and knowledge about autoinflammatory diseases. Joining YP AREA was another stepping stone for me to spread awareness about autoinflammatory diseases but also learn to advocate for myself as a young patient with a rheumatologic disease while navigating life as a mother with a child with a genetic disorder. It’s a journey raising a chronically ill child while being a chronically ill young adult but together we can navigate this medical world of unknowns. Groups like YP AREA and the other councils I work with are the reasons why we are becoming more aware about these rare diseases but also the struggles that us young adults and parents face when going through these tough times. With raising awareness you find your own support groups and you feel less alone.
References
– Autoinflammatory Disease Types | NIAMS. (n.d.). National Institute of Arthritis and Musculoskeletal and Skin Diseases. Retrieved July 26, 2024, from https://www.niams.nih.gov/health-topics/autoinflammatory-diseases
– Hoffman, H. M. (n.d.). Familial Cold Autoinflammatory Syndrome – PMC. NCBI. Retrieved July 26, 2024, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321996/
