Besides the physical impairments and the pain, what I suffer most from is the humiliating visits to the doctor and the abusive comments from those around me.
As a diagnosis, I kept hearing that it was psychosomatic or that the disease was only in my head. Later it was called fibromyalgia, which ultimately means nothing other than psychosomatic. When I had abdominal pain, a gynecologist said I shouldn’t behave like that, after all I’m a woman. Many years later it turned out that I had endometriosis, a cyst and fibroids in the uterus.
A colleague recommended that I seek psychotherapy for my frequent complaints, although I did not ask her opinion. A physiotherapist once told me that there was nothing she could do for me and that I should do relaxation exercises. At that time, I had to go to the chiropractor 3 times a week to release blockages. A change of physiotherapist led to success here as well. At first, I had physiotherapy appointments weekly. Now I can get around every 14 days and if it’s really bad, I still have an osteopath. Since a stroke I’ve also been going to occupational therapy, which I don’t want to miss anymore.
I have never dared to talk about all my complaints for fear of being committed to psychiatry. This is not unfounded, as I found out recently in a conversation with a Fabry sufferer who had the same thing happen.
When I was diagnosed in my early 50s, I was too happy. Because very few doctors can deal with Fabry disease. Doctors still believe that women cannot get Fabry disease. My previous family doctor was convinced that not all of my complaints came from Fabry and recommended that I stay in the psychosomatic department. The neurologist did not want to examine me and referred me to a ‘specialist’ in the clinic. This neurologist recommended a 3-month medical leave.
Luckily there are still good doctors, but they are hard to find. I’ve finally found specialists who take me seriously. Looking back, I can say that I was correct in all my feelings about my body. You just can’t see that I’m sick.
I have had stomach pains (chronic gastritis) and also pain in my back and joints since I was a child. The pain occurred in one place or another, I called it my wandering pain. As a child I had frequent infections with high fever (urinary tract infections, tonsillitis, sinusitis). With menstruation came severe abdominal pain. I had migraines very often, especially when the weather changed from cold to warm or caused by smells. My face was always red, skin fair and marbled. The other kids made fun of me at the outdoor pool. At the age of 12, I was the tallest in the class. Due to growth disorders, I was no longer allowed to take part in school sports.
At the age of 40, after several herniated discs and 3 surgeries, the pain was so severe that for 2 years I could almost only lie down, sitting was impossible. A pension application was rejected. In the neurological report, a “somatoform disorder” was diagnosed. I found a part-time job and worked standing. I had diverticulitis when I started work and my general practitioner wanted to refer me to the clinic. I didn’t want to be out in the first week so I gritted my teeth, took antibiotics and somehow managed. I rarely talk about my pain and always try not to let it show. Rarely stayed at home, even though I had migraines so often. After work I didn’t have much strength left for private life, the pain was unbearable. Even today I often have to lie down to relax my muscles.
I’ve been trying to strengthen my muscles for more than 12 years, but could hardly increase the load. Despite my efforts, my condition has also gotten worse and worse. When I asked the doctors about it, they always said I had to train more.
I react very strongly to environmental conditions. Fragrances such as deodorant, room fragrances, cleaning agents cause migraines. When it’s too cold, I feel pain. I can’t stand it in air-conditioned rooms. My skin must always be covered. In winter I sleep with a towel over my face. A cold draft and the frontal sinuses become inflamed and I get a headache, I also react to building dust, e.g. when drilling in plasterboard. I can’t stand direct sun at all. In summer it’s the heat that can’t get out of my body, so I shower several times a day, including at night. On the other hand, my body cannot maintain the temperature and cools down quickly.
I have pain all over my body. The typical burning pain in hands and feet. As well as Polyarthrosis, especially in the small joints of the hands and feet. Every hand movement and every step is painful. Pain is also caused by muscle weakness. Also, a consequence of the Polyneuropathy. I always have to put my ankles on the side when lying down, because the weight alone causes pain. I can only sleep on my back on a very soft mattress. I can’t sit for long either. If I hold my arms up while working on a computer or even just holding a book, I get a sharp pain between my shoulder blades that takes my breath away. Like someone sticking a knife in my back.
At the age of 51 I was getting worse and worse, also cognitively I could no longer do my work. The concentration problems became more and more massive. I presented myself to another pain clinic and was finally in the right place. Fabry disease was diagnosed.
Today I know that many of my complaints are related to polyneuropathy (SFN) caused by Fabry disease. Unfortunately, I have the impression that many doctors are not aware of the extent of PNP and the connections. I have read that some of my symptoms are due to damage to the autonomic nervous system, such as delayed gastric emptying, sleep apnea, not being able to feel how full the bladder is, inability to sweat, pupillary reflex disorders and many more. Many medications increase the effect and after general anesthesia I have had problems mobilizing my intestines several times.
I give the impression that I am particularly clumsy due to frequent falls, objects constantly falling out of my hand and I often collide with the door frame or with the shelf when putting dishes away. It is now so strong that I can no longer walk over uneven ground (cobblestones or dirt roads) without help. When I walk, I always have to pay close attention to where my foot touches down. I always need a stable footing so that dizziness doesn’t throw me off course. This is also a consequence of PNP, a disorder of deep sensitivity.
Because of my disabilities, I’ve always been an oddball. This has not changed with the diagnosis either. We live very isolated because only a few people are willing to take my needs into account. We have adapted our home to my special requirements and I feel safe here. The exchange with other affected people is very good for me and I am glad that there is a self-help group and home therapy.
It makes me angry to hear more and more that Fabrys are only treated when there is evidence of organic damage! I’m scared of what’s to come. I’ve already had a stroke and have kidney failure. I can still get something positive out of life but I don’t know how much more I can suffer…
My husband, who always supports me and still loves me the way I am, gives me strength.