One In a Million

By Amy, Familial cold autoinflammatory syndrome type 2, United States, February 26, 2021

"One in a million" - that's the phrase I heard my doctor describe my disease to a nurse as I was coming out of anesthesia. I was recently having a colonoscopy to find out why I was bleeding so much internally. The GI doctor said he found a "nasty polyp" that was most likely due to inflammation caused by the very rare genetic illness I was diagnosed with this past year. The "one in a million" disease that was discovered surprisingly during my genetic testing is called Familial Cold Autoinflammatory Syndrome 2 or FCAS2. This rare autoinflammatory, rheumatological, immune deficiency is caused by a defect of the NLRP12 gene. It is so rare, there are probably only around 100 cases known worldwide, and only a small portion effected in the United States. My mutation is so rare, it hasn't even been documented anywhere else yet, though that does not mean I'm the only one that has it because it probably runs in my family and no one else has ever been tested for it. That's why so much of this was so surprising. For me, it's been 50 years of living with the unknown, with mysterious symptoms and diagnoses popping up throughout my life. I have received multiple diagnoses of autoimmune illnesses, from psoriatic and rheumatoid arthritis to hypothyroidism and fibromyalgia, along with multiple GI issues, skin rashes, infections and allergies. A couple of years ago, it was discovered that all my immunoglobulins were low, which led my doctor to believe I had a rare immune deficiency called Common Variable Immune Deficiency (CVID). I was referred to a well-renowned Immunologist who felt the rare CVID was only part of the problem, so she had an immune genetic panel done. She was even surprised herself when the results came back the even rarer FCAS2. Now that she and my doctors understand the illness better, they realize it causes systemic inflammation that appears in various ways, and gets worse with the cold and cooling temperatures. They all agree it is the primary disease I was born with and that my teenage son most likely has it also. That last part is the very hardest part of it all for me. I don't want my son to have to suffer most of his life like I have so I am doing all I can to educate us about it and get support. With a background as a Health Educator, I feel the need to educate and promote awareness. I even decided to start my own little support group on Facebook with other women, specifically moms, dealing with FCAS2. There are a dozen of us that are part of another FB group of 100 members dealing with FCAS2 worldwide, so I know my son and I are unique, but not alone!

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