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.

In Fabry and many other diseases, a genetic test is used to determine whether there are changes in the DNA (genetic material) that can cause a disease.

For some time now, “next generation sequencing” has been available for this purpose, i.e. the actual sequence of information on a gene is determined. In the past, this was not possible and special tests were developed that were applied to very specific gene sections (e.g. MLPA analysis). However, this can only detect a part of the changes (only deletions and duplications). Since most of the Fabry mutations known so far are missense mutations (exchange of a base pair in the DNA), this simple test cannot detect Fabry in most cases.

A complete analysis can only be carried out using “Next Generation Sequencing” (NGS for short). It must be ensured that intronic regions are also analysed, details of which we have already described here.

An overview of different test methods can be found here.

Unfortunately, there are information deficits here as well. We have a negative Fabry gene test which is only based on a simple MLPA analysis and therefore has almost no significance. In the information on the test used, the limitations are clearly explained, yet for the examining geneticist, Fabry was ruled out at that point. This is another piece of the puzzle as to why the diagnosis of rare diseases takes so long. Wrong tools are used by even professionals and so wrong diagnoses are made.

Frequent misdiagnoses result in a Fabry diagnosis taking over 15 years on average. Many patients are never properly diagnosed. However, many of them could be helped causally. We have listed all known misdiagnoses here.