So I am going to do a short writing on my process of getting diagnosed with Fabry disease.
When I was around five years old (this is as far back as I can make a valid point to), I started getting these sensations in my hands and feet; a burning sensation, like I had stuck my hands and feet on the burner of the stove and cranked it to high. My parents thought I was just trying to get attention, though I never truly understood why they would think that. I was not by any means the best kid out there, but I certainly did not seek attention, because the best I got was negative. I tried my best to stay under the radar at home and at school, though neither ever worked. Anyway, they thought that in the middle of the night, when this burning sensation would happen, that I was trying to get attention. They thought this even though the pain would bring me to tears and I would be running to the freezer to find anything cold to calm the pain. It never worked except for the first five or so minutes. This happened every couple of months. I would be up for hours screaming in pain, begging to go to the hospital, but to no avail. Flash forward six years. I get sent to a children's hospital to live for three months due to my less than satisfactory behaviour.
Now, I don't know if you have ever spent a long time in the hospital being tested on day in and day out, but let me tell you...it's not fun. I went through extensive brain tests for those months. Every day was filled with new ways to try and figure out just what was wrong with me. Their conclusion after these months was a simple case of ADHD; definitely not the answer my parents were hoping for. The burning pain still happened in the hospital but was ignored by everyone. Have you ever been told you are a liar by a medical professional even though you are telling them the truth? It sucks. You start to believe them—that you are the one who is wrong and it's all in your head.
Upon leaving the hospital, I went for an eye exam, and during this exam, the optician noticed "starburst patterns" around my eyes, a very rare genetic trait that only affects people with a rare disease. So more testing and more testing, and this time, I got answers to my pain. The doctors diagnosed me with a rare genetic disease known as Fabry disease. This diagnosis finally showed everyone I wasn't lying about the pain and let me breathe a sigh of relief. Well, I thought it would. I thought there would be something to help with the pain, but at this stage, the disease was so uncommon that they had yet to find a medication to help with the pain; just a handful of drugs that helped some people with similar diseases. So back to being discouraged, but at least my parents believed me now. I went through so many different medications. Some helped a little with terrible side effects, most of which I kept hidden from my parents to just keep having the little bit of relief from the pain.
At this point, the pain wasn't every few months, it had progressed to being a daily thing. A life of pain. At such a young age, I just wanted to escape it and be normal, or escape it all and not worry. Obviously, I am still here, so I did not escape it all. After many, many years of trying different meds, I had given up hope. I had stopped going for my yearly check-ups and started spiraling down a dark path filled with drugs and alcohol I felt there was no hope or help, that was until I met a doctor that offered me one new med on the stipulation that I stop the drugs I was on (the combo would have killed me) I agreed. Then came the long process of withdrawal, then getting onto these meds, which I can say I successfully did. The meds have worked for many years now which I couldn't be happier for. Though as of late they have started slipping, and with them slipping a crazy amount of new medical issues have risen due to the meds. I now have four surgeries lined up and have been told I will have to stop taking these meds, as they have started to destroy my liver and kidneys. I have never been more terrified in my entire life. With the meds, I have been able to live a fairly normal life, raise a family, get married, all that classic life stuff. So now I fear it's all slipping away. I hate to ramble on like this like a "poor me poor me" thing, but I needed somewhere to write it down. Thanks for reading.