I was born with a Gene mutation which causes fever, arthralgia,conjuntivitis, urticaria, depression, and on and on... This was passed through the paternal side of my family and I have two sisters who suffer the same as I. We in turn have chidren and grandchildren with it. It was only recently diagnosed and there are studies and some others with this are able to take a new FDA approved drug to help with symptoms. It is closely linked to those with TRAPS but not quite. The disease is called FCAS or Familial Cold autoinflammatory sydrome. There are two ather diseases associated with this and a person can have overlap of them namely Muckle Wells Syndrome and NOMIDS. Researchers are just scratching the surface with these diseases and there symptoms so i really don't think they know how these disease affect the body totally. Some people suffer to different degrees and some don't fit the mold and can go undiagnosed. I personally have other symptoms other than the generic mold . I also have other medical issues which may be aggravating the FCAS/MWS that i have. I can not take the drugs on the maket for it as i have liver issues as well. Some with FCAS/ MWS develop amyloidosis AA, hearing and vision problems as well.
The flare is initially brought on by temperature change and or a number of other factors such as dampness, wind, air pressure. It begins with a rash that can be itchy but mostly painful and burning which covers three fourths of the body. Painful joints and muscles follow with swelling at the joints. It usually culminates in chills and fever and the felling of dizziness and nausea and headaches. The flares last about 24 hours . The intensity of the flare is directly related to the amount of challenges you have recieved for the day and the duration of the challenge. In my case, I have a flare on a daily basis to differing degrees but always at the very least, the rash and temperature fluxuation and arthritic type pain. This disease is systemic and a flare tells the proteins to produce white blood cells. Labs will come back abnormal during a flare white high WBC and low RBC as well as high Sed Rates at times. We ( my sisters and I ) have been misdiagnosed so many times in the past or not believed because Doctors test for auto-immune and those tests come back negative. We have auto- inflamatory and test only come back odd while in a mild to severe flare. This usually happens at the end of the day after Labs and Doctors officces are closed. The only test that can define this disease currently through gene test. I am looking for anyone else who has been diagnosed with CIAS1 or CAPS related diseases.
Add to the discussion