Very odd way to get diagnosed with ‘Ankylosing Spondylitis’

Because I was struggling for so long with my migraines and pain in my back I decided to do a DNA test. My twinbrother had that test done and it looked very interesting to me. I took the test from 23andme. This lab is located in America. There are other companies who also offer DNA testing and I don't know the difference or which one is the best. 
I have seen two orthopeadics who told me my backpain, which felt actually like ass pain for me, was caused by a tiny bulging disc. They were both big guys who laughed at me when I said I was thinking of something else.  When I got my DNA results in a readable form, I found out I had a lot of mutations in my HLA genes. Which have to do with immuunsystem. I digged out the internet like a murderer trying to dump a body and what came up was the HLA-b27 gene which is used for diagnosing Ankylosing Spondylitis. The information I had about my gene was that I had a mutation in HLA-B. So I did not know if it was the 27th form yet. But wowwwww.... almost all the symptoms looked very similar to my symptoms! The following weeks I started reading more and more and I tracked my symptoms. This must to be the disease I am suffering from! I had to find out if I am having the 27th form of this gene.


I allready had faced a lot of doctors at that time, I really didn't feel like facing an other one to get me to the rheumatologist. So I wrote my self a referral letter for the rheumatologist. I was working as a doctersassistent in a general practicionersoffice where I had made my own medicalfile. I sometimes had an appointment with one of the doctors where I worked for, so this was very useful! How cheeky!!! And I was nervous... somebody could have caught me and I could have got fired. 

The rheumatologist was looking at me funny when I told her my story. I didn't mention that I wrote the referral letter myself of course! General practitioners have to do certain test before somebody can see a specialist. Of course, this information was not in the referral letter. I only wrote 'patient is suspected for Ankylosing Spondylitis. She found HLA-B gene in her DNA test which she has done herself. She has this and this and this symptom'
I WAS SO NERVOUS!!!  I really, really wanted her to check my genes further and thank god she did! She also checked my inflammatory values. They were to high and I tested positive for the HLAB27 gene. The x-ray showed no signs of fusion yet but the MRI showed strong narrowing of the left SI joint and some fat deposits around some vertebrae. Wich could be a sign of earlier inflammation. This makes me believe that the illness started way earlier than my 20s.
I'm telling this story because this was an odd way to find out about this auto-immuundisease. I strongly felt that the diagnoses they were giving me were not the right ones. Oooall the things they have told me... pelvic instability, bulging disc, stress, you need to work out more, hypermobility... Of course I got depressed at a certain point and I cried a lot when treatment was failing over and over so doctors and therapists were focussing on my mental health a lot. Like that was the main problem. 'Maby it's your way of thinking on life' 'Maby you should find hobbies' All these comments made me feel even worse! As if I didn't wanted to be able to do my hobbies!!!

 

I'm hoping by telling my story people will stay strong in fighting for their health and be brave enough to speak out what they feel. Of course I was in a perfect situation to help myself. I had medical knowledge, I knew a bit about how healthcaresystem works, I had exces to my own file. 
The 'normal' time to diagnose Ankylosing Spondylitis is between 8-12 years. For females even longer because it's more common in men. This is such a long time to be in pain all the time, have very poor sleep and are expected to function in daily life. It would be wonderfull if this disease gets more awereness in the future.  

 

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