I have not been well since childhood. Bad pains in the body, dizziness and anxiety. As an infant at 5 months, severe cough and skin rash. Bathing and washing my hair was always a horror. First of all the too warm water and the shampoo. Nothing really tasted good to me, I was a wild child who always needed exercise.
When I was 11, my heart was checked for the first time because I always had noticeable heart rhythm disturbances. The examination revealed a nervous condition, possibly caused by the divorce of my parents.
My back pain increased so much that at the age of 15 I was examined by an orthopaedist for the first time. Left-sided scoliosis and slight kyphosis, too late for a brace or anything else according to the orthopaedist.
At 16, bilateral tendonitis. Some allergic reactions to food or other things with swelling of arms and legs.
At 18/19, low blood pressure with fainting and subsequent anxiety. Vaccination reaction to flu shot. Problems with stomach, intestines and gall bladder at 22. An odyssey of doctor visits. I always said, somehow it’s all connected to the food, maybe I’m missing something to break down or absorb nutrients. A smile from the doctors was all.
I had developed several fistulas in the rectum, anal vein thrombosis.
At 30, with 1st child, severe gestosis with blood pressure readings of 280/180 with green bile spewing. After 8 days of intensive care we survived everything and I lost 10 kg of weight directly at delivery, that’s how much water I had in my body including the child of 2970 g. Which came 4 weeks early.
The second child came 3 years later in a spontaneous birth without complications. Both children had neonatal jaundice.
I had been overweight for 10 years and did not know why. That’s why I gradually lost 50 kg in 3.5 years with diet. I have always done sport, including daily gymnastics. I only stopped this last year at the age of 60 because I couldn’t manage it any more.
At 42, I had fundoplicatio surgery because my stomach valve no longer closed properly, and gallbladder surgery because a stone the size of a pigeon had to be removed. At 47, I was diagnosed with Hashimoto’s thyroiditis and fibromyalgia. Despite everything, my problem did not change.
At 51, my skin started to react to antibiotics, then after 4 months I came down with clostridia and had to be hospitalised. After that, everything was fine again, but my complaints after eating, which always showed through my skin, did not change.
In the eyes of the doctors, I was a hypochondriac, and anyone with fibromyalgia would fit right in. There were many other things too, which I can’t list because it would go beyond the scope of this article.
Through running from one doctor to another, I found my way to the human geneticist. I thought I was suffering from lipodystrophy, which was not the case. It took 4 months to get the result and I was so busy with work and health that I only found my way back to the human geneticist 2 years later. I showed him my fingers and feet, which had become emaciated in the meantime, and the overall deterioration of my tissue, and I kept referring this to my food. After an examination and almost 6 months, I received the following result in May 2022: small fibre neuropathy, primary erythromelalgia with celiac disease.
Because of the arachnodactyly, there is a suspicion of Fabry’s disease, Marfan’s disease and EDS, which should be investigated. All the results and dietary changes gave me 3 months of restlessness and running around in my whole life. I had to get rid of all my food and buy new food at 3 times the price while I was unemployed. It was a real hassle, as the kitchen utensils and appliances had to be replaced as well. Running the gauntlet from A to B. To the internist in July, because of blood values for coeliac disease and alpha-galactosidase value. Again I had to wait 2 months until I got the result that this value was too low and that there was a suspicion of Fabry.
Another 4-week wait for an appointment with an endocrinologist, as the human geneticist in my practice had left and there was no successor in sight.
Blood was taken for EDS and Fabry at the end of September 2022. After repeated enquiries, I was told in February 2023 that the first test for EDS was negative, but that other criteria for EDS would be looked at further with a referral. When I asked at the practice in Frankfurt, the doctor on duty told me that there was no Fabry. I then contacted the practice 3 more times, by phone and by email, asking about Fabry. After a week I got the message. The doctor in charge has been informed and we will contact you as soon as we know more. Laughable, that was 4 or 5 weeks ago.
I then had my blood taken by my pain therapist for Fabry. She wanted to do the test in October, because she thinks I am a Fabry patient, but since my endocrinologist supposedly already did it then, she didn’t do it. Fortunately, the doctor is now doing it. Hopefully the result will reach us in time…….
The waiting makes me sick. No matter what I eat, my skin symptoms get worse and worse and all the tissue decreases. If Fabry is confirmed, you have to go back to the university for rare diseases for an appointment. Again, it can only take months! Then it will be determined. Whether you need capsules or infusions, or whether nothing helps at all. Amazing prospects! Since it is a rare disease, the expensive medication must also be financed. Costs 200-250 thousand euros a year.
You are exhausted anyway and have cognitive impairments, dizziness, word-finding problems, run at half-mast. Everyone looks at you stupidly. It doesn’t show on your face that you can’t go on. The fights with the authorities destroy you even more. The medical service of the employment office makes a remote diagnosis of your ability to work for 8 hours. You can’t think of anything else to say. Even though I now have a GdB of 50, I am harassed to find a job. You have to apply for jobs, etc., because otherwise you won’t get any money and won’t be available to the labour market.
All right, and if I’m running on fumes, I’m crawling. Application for rehab was rejected last year, as I had claimed AHB after spinal surgery 1.5 years earlier. With a lot of squabbling and an unreliable neurologist, it takes months and nothing happens.
With my GP I have now finally been granted rehab for neurology/orthopaedics and nutrition they are well equipped. I would have liked the Fabry result to have been there so that I could finally be treated.
I think I have Fabry based on my symptoms. I have a book on EDS that explains a lot, including Fabry. There are many similarities between Fabry, SFN and EDS. EDS has already been ruled out. My diet has been gluten-free for 10 months now and yet I still have problems with metabolism, which is why I keep coming back to Fabry.
Of course, no one wants Fabry, and I don’t wish it on anyone either. But I do wish for a result at last, so that this eternal waiting, tugging and the constraints of every authority can stop.
Finally to know what is wrong with me. Do I have Fabry or not?
I wish everyone who reads this good health and don’t let it get you down.
Kind regards Gabi