Neonatal onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic cutaneous and articular syndrome (CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage.
It is one of the cryopyrin-associated periodic syndromes called CAPS and most severe form caused by mutations in the NLRP3 (CIAS1) gene. About 50% of affected individuals with CINCA syndrome are found to have mutations in this gene. This condition is inherited in an autosomal dominant manner. Treatment may include the use of medications to suppress the process of inflammation, such as anti-inflammatories, corticosteroids, and interleukin-1 beta receptors.
If there was a disease out there so rare that only about 40 people in the entire country were affected, would you still do all you could to help fight it? If you were Colleen Paduani, or the parent of one of the other 39 or so… your answer would be a resounding YES. Please watch The Balancing Act, Behind the Mystery: Rare and Genetic Diseases segment as aired on Lifetime Television, as 8-year-old Quinn Paduani shares her journey with the Ultra-Rare Orphan disease called NOMID, along with Dr. Philip Kahn, Pediatric Rheumatologist, who talks about the importance of early diagnosis. It all starts with knowing the signs, symptoms and resources connected with this rarest of rare auto-inflammatory disease.