I have a story to tell about why you need to constantly educate yourself about your disease, research it and document EVERYTHING! I started out trusting doctors and have since been totally let down by the Medical System.
I have spent the last 10 years knowing I had a positive lupus Antibody test in 2001 whilst experiencing possibly the worst flare on my life. I was swollen, sore, covered in rashes of all sorts, including in the scalp, and my face puffed up like a balloon, until I could no longer SEE through the slits that had become my eyes.
However, I changed GPs in 2006, and this was my Great Lupus Undoing.
Following my Heart Attack in 2006 the Cardiologist referred me to A Rheumatology Clinic at a Major Hospital in Brisbane. After Numerous visits, and only returning high ANAs, extreme Rheumatoid Factors, high C Reactive Protein readings and high Alkaline phosphatase readings, but no anti DS DNA, the Rheumatologist’s quote was “You have something Autoimmune happening but we don’t know what. Come back if you get sick”
Hello! I WAS sick.’
I was also losing feeling and control in my legs and arms. My GP referred me for testing and the Private Neurologist confirmed a Neuropathy. However the Rheumatologist had previously answered my inability to turn the car key, hold things, or open things with “You should see an Occupational Therapist”. This was for me the last straw. I KNEW how to use aids to make life easier. I wanted ANSWERS to both my neurological and All body disorder.
Following a series of episodes of blindness I was referred to a Neurologist at the same hospital. He was useless!! Ultimately given my fathers history I demanded a genetic test. This came back positive for hereditary Neuropathy with Pressure Palsies, meaning I have only the maternal copy of the pMp22 gene on Chromosome 17, so my body manufactures incomplete myelin, the protection on the the nerves. This causes progressive numbness and pressure damage in the nerves. SO, still no explanation for my other Neuro symptoms, blindness, balance problems,cognitive issues, white matter lesions on MRI etc.
I asked for a referral to an Immunologist as my problems were not being resolved, and it was obvious something was going on. I asked him for the results of the Gene testing. He of course had not read them. Once I asked the question it was a different story.
Finally from being considered a depressed menopausal hypochondriac I was taken seriously on the other matters.
I got copies of every blood test I had ever had, and gave them to the hospital. However no one even READ them.So I fed those to the Immunologist too.
Suddenly I now have a Re-diagnosis. Mixed Connective Tissue Disease. This is a Lupus like Disease with many shared feature of lupus, however without the proof of the Specific Lupus antibodies. He believes I have Lupus, but have not yet been lucky (??) enough to have the antibodies at time of blood tests.
SO how do I feel today?
Vindicated!! After years of steering people in the right direction, making sure they HAD the information to hand to assist in diagnosis, and Spoon Feeding them the information I am on TREATMENT!
I am not too pleased to be told I have Vasculitis, Sjorgrens Syndrome, and Reynauds Disease as secondary illnesses, and I shudder to think of the damage that has been done by lack of treatment previously, but now I can at least see a little light at the end of the tunnel.
I think the most frustrating things are:
Once a doctor, (Any doctor) says you do not have a certain disease it is the only thing they see.in your file and they fail to listen or investigate.
If you get a label as a hypochondriac, or research your own symptoms because they won’t you are again labelled.
I don’t know if my Immunologist was having a good day when I saw him last week, but if I had not once again asked him to LOOK at my bloods for the last 10 years, WITH all the Lupus/MCTD markers highlighted I would still be untreated.
Perseverance has finally paid off but it should NEVER have got to this Stage. The Medical Profession has a long, long way to go.