The worst thing that could happen has happened: several patients have had their therapy taken away. The justifications for this refer to the reclassification of the variant p.D313Y by the laboratories. They are scientifically incorrect, the state of research and the successfully treated patients were ignored. How much pressure was put on the physicians is unclear, but ultimately they chose to deprive the patients of their livelihood.
We know many of the currently affected patients personally. We were allowed to witness how they got better with the therapy. They were no longer confined to bed 24/7 or could even put away their wheelchair.
We hope that we can still somehow prevent the progress from becoming regression again. We know that the pain cannot be managed with common painkillers.
Therefore, here again the very simple explanation: The therapy is only effective against Fabry, there are no known accidental effects on other diseases.
This alone should be reason for the “specialists” to question their refusal or better still to give up their resistance and to treat the patients and finally allow the diagnosis of further patients again.
Patients fight for acceptance of all disease-causing variants
After my diagnosis was finally confirmed – I was already 52 years old at the time – my husband and I dealt intensively with Morbus Fabry and also stay in contact with other affected people and the MFSH.e.V (Morbus Fabry patient organisation).
We got to know other pain patients. They either have the same variant as I have A143T or the D313Y.
Apparently, I was lucky to be one of the few to get therapy. Today we see how many patients with these variants do not receive the therapy, even though they have massive symptoms.
We are also shocked that at least one laboratory no longer reports these mutations. The consequence is that patients with a long doctor’s odyssey have absolutely no chance of finding out the real cause of their symptoms and continue to be treated psychosomatically, although there is a causal therapy.
Together with a friend with the D313Y variant, who has very similar symptoms and medical history as I do, we decided to create this website. In this way we want to make this problem visible and give those affected an opportunity to share their experiences with the world.
Above all, we want to point out that for us the quality of life with the therapy has drastically improved. And we wish the same for other affected persons!
I am infinitely grateful to my husband for his support, without his support this website would not have been possible!
On this website we would like to provide information about the rare disease Fabry from the perspective of patients who have variants (such as p.D313Y or p.A143T) which supposed to be not disease causing.
Here you will find information on the symptoms of the disease, misdiagnoses and differential diagnoses, the fate of individual patients, reports of success with the therapy and barriers that exist in the diagnosis and the access to therapy.
Together with another family and the MFSH e.V., we are in contact with doctors to draw attention to the grievances and in the hope that patients will not only receive therapy after an irreversible organ damage has already occurred.
We would like explicitly to point out that we are neither doctors nor affiliated with pharmaceutical companies or similar. This information has been compiled to the best of our knowledge.