This post is very personal to me, in december of 2019 I was diagnosed with a unknown autoinflammatory disease. I’m hoping to bring awareness and possible reach others who are dealing with the same thing as me. So let’s get started!
What is an Autoinflammatory Disease?
So basically it all starts when some of a person’s single genes mutate. This causes the branch of the immune system that everyone is born with to become overactive in its production of its inflammation mechanisms. When the body gets flooded with excess inflammation that is when things go downhill and people feel the effect of too much inflammation like; gaining weight, problems with digestion, recurring fevers, joint pain, fatigue, hair loss, rashes, and so much more.
How it is Diagnosis?
There are a lot of steps to get diagnosis and it can be tiring. Usually people have recurring fevers that go on for months and are not from a viral or bacterial infection. Once other types of infections and diseases are ruled out, you go for more testing. The doctor will order autoimmune testing to be done to rule it out. Then based off of the person symptoms and other factors, they may do a genetic test to look for the main mutated genes of the known autoinflammatory diseases. I will note here because my doctor told me this, that just because the gentic testing comes back with no known mutations does not mean you do do not have a mutation some where. It means that they just have not found which one is mutated. So basically means a lot of blood tests and waiting as genetic testing takes forever.
What are the treatments?
Treatments depend on the person and insurance companies. The purpose of the treatments is to lessen the occurrence or even possibly stop flares from happening. I know for me we had to start at step one which was trying colchicine which is a medication used for gout and that took 4 weeks for me to get to the dose that people usually feel relief at. In the end, I failed it, meaning I had a flare up that lasted 3 weeks while taking the medication. After that it goes on to another medicine until you find one that works for you and insurance is willing to cover. I’m on medication number two which is Ilaris it is a biological that blocks part of my immune system that is possibly making the inflammation.
Why is it important to know about Autoinflammatory Diseases?
Well autoinflammatory diseases are considered rare and like most rare diseases there is not a lot of research or funding going to them. The one way to help with that is to bring awareness to it. As of right now 60% of people who are diagnosed with an autoinflammatory disease do not have a name to their specific diagnosis (aka me). This means that there are more variations to this disease that we do not know about. On top of that if you do not have a specific diagnosis it is really hard to get insurance companies to approve medication that could help you. Medication is really expense and insurance companies are stingy with who they want to help and what they want to pay for. My medication costs about 1,500 dollars a dose and if I did not get enrolled in the pharmaceutical company’s pay program which helps pay for it and negotiates the rest of the amount with my insurance company for me, we could not afford it as I get it monthly and I do not know anyone who had 1,500 dollars hanging around a month.
Thank you so much for reading, all of my information is from the article Periodic Fever syndromes and other autoinflammatory diseases: An overview, By Doctor Peter A Nigrovic. You can find this article for a much deeper overview of autoinflammatory diseases at http://www.uptodate.com.