Patient reports on her experiences at the geneticist

You can find the article under Laboratory test / Genetics

It is shocking how little is known about Fabry disease, although there has been a therapy for more than 20 years.

Much false information is still widespread:

Starting with the number of people affected. The frequency is given as 1 in 40,000. There are mutations that are found much more frequently in the population. Example the variant p.D313Y. This is estimated to affect 1 in 200 people.

Men are affected more often.

Women are only carriers and would not get sick themselves.

The healthy X in women can compensate for the sick.

Unfortunately, the so-called biomarkers such as measuring α-galactosidase A activity and determining the lyso-Gb3 level cannot provide unambiguous results either, since a gene defect can be present regardless of gender, despite normal values.

Further Information

Details on variant A143T:

The first patient described by William Anderson in 1898 could be traced back more than a century by family tree. He had the Varainte A143T.

One of his descendants was one of the first men to be treated with enzyme replacement therapy.

Also, the youngest patient starting therapy in the UK at age 3 had variant A143T.

Three Significant Milestones and a Review of the A143T Mutation Within one Family with Anderson Fabry Disease
P. Rohman, Uma Ramaswami, A. Mehta, D.A. Hughes
Royal Free Hospital, Lysosomal Storage Disorders Unit, Pond
St, London, NW3 2QG

52.ERA-EDTA Kongress in London (The European Renal Association and European Dialysis and Transplant Association congress) (page 91)

The longer you look at it, the more confusing it gets.

Supposedly, intronic mutations don’t do anything.

However, we know several people who are affected, some of whom have the same symptoms as us and many others Fabrys, but still do not receive any therapy. Some even have low alpha-galactosidase levels.

You can find a contribution to this under the “Intronic mutations” submenu under the Controversial mutations.

There are two new patient reports.

New in our media library:

  • A podcast on the misdiagnosis “Psychosomatic” (German)
  • And there is a book recommendation about misdiagnosis in women. (English)

So many things I don’t understand:

Why are the interpretations of the pathogenicity of the mutations so different or changed so often?

How can a mutation that has been recognized as pathogen be classified as likely benign, even though seriously ill patients are still being treated at the same time?

There are five classifications of pathogenicity of mutations:

  •     Pathogenic
  •     likely pathogenic
  •     uncertain significance
  •     likely benign
  •     benign

Uncertain significance does not mean that the mutation is benign or likely benign. Why is therapy being refused here? As I understand it, it’s up to the doctor’s discretion. If he thinks there is enough evidence of the disease, he can prescribe therapy.

Why wait until organ damage has occurred? This should actually be prevented.

And why are only a few symptoms recognized? After all, it’s a multiorgan disease…

Some laboratories do not report likely benign or beginning mutations. These patients never find out about their genetic defect.

First, the complaints are not taken seriously for many years. You’re told it’s only in your head. Then you may have found out the cause, but you don’t receive any therapy because you have the wrong symptoms or the organ damage is not yet severe enough.

It makes me very sad to read about such patient experiences again and again. But it also feeds my anger, so I’ll never get tired of fighting for the recognition of supposedly non-disease-causing mutations.

You can support me, tell me about the improvements since starting therapy if you have one of the mutations discussed, such as: p.E66Q, p.R118C, p.R118H, p.S126G, p.A143T, p.Y152H, p.F229V, p.M290I, p.D313Y, p.Q330R, p.R356Q, p.A368T, p.R112H

Basic research: mutations that are said to have no influence do cause damage.

The article was just linked on Facebook:

It describes how mutations that lead to the same enzyme can nevertheless lead to cell damage. This was explicitly demonstrated here in yeast cells. However, the authors assume that the effects are similar in other cells/organisms. This would also refute the statement made by some Fabry specialists that mutations such as D313Y or A143T have no effect. We are curious and will also follow this topic. The literature research page will be supplemented accordingly…

Welcome to our website!

Since we encountered a few inconsistencies in the diagnosis and non-treatment of Fabry disease, we had to investigate the correlations more intensively than we thought as non-professionals. We noticed that there are still many unanswered questions.

It annoyed us that patients are not treated despite a proven genetic defect and massive complaints. Therefore we would like to contribute to the clarification with our side, so that some of the rare ones again are categorized as psychosomatic and are only treated symptomatically, although a causal therapy is available.

All information can be verified with sources!