About ML


The treatment of Fabry disease with D+galactose

This is not a medical recommendation!

We would also prefer the treatment with a Fabry-specific therapy by physicians!

Due to the distress created by the discontinuation of therapy by Fabry specialists in some Fabry patients with GVUS, some patients self-treat with D+galactose.
Fabrienne explains possible risks and benefits of Fabry treatment with galactose in her video.

Cited studies:

Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y.Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem Biophys Res Commun. 1995 Sep 25;214(3):1219-24. doi: 10.1006/bbrc.1995.2416. PMID: 7575533.

Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med. 2001 Jul 5;345(1):25-32. doi: 10.1056/NEJM200107053450104. PMID: 11439944.

Addition: new video from Fabrienne: https://youtu.be/z4aCRBLwPrY

no help in sight

Successful therapies were discontinued…

In Gießen and Hamburg, patients with variant D313Y were informed by phone or by mail that they will no longer receive therapy with immediate effect. It is no longer Fabry. The patients also developed health problems relatively quickly after the end of treatment, one patient was already in the emergency room….

We have been fighting for a long time for the recognition of the “controversial” variants, but that now successful therapies are discontinued is the worst thing that could happen.

But we are not giving up!

Info about GLA gene testing in Fabry disease in Germany

IMPORTANT for all who have been genetically tested for Fabry disease in the last years!
The laboratory findings may be incomplete and it could be that a variant is present but not reported.

Only pathogenic/disease causing variants are still reported in the findings!

The arbitrary classification of variants as benign/ benign by the laboratories means that they are no longer reported. The report only states:

No clinically relevant variant was detected or
No pathogenic variant found

It is not possible to determine an exact date for this procedure, as some laboratories were already practicing this before the GEKO decision. Here, the tests offered free of charge by the pharmaceutical industry stood out in a particularly negative way.

The German Genetic Diagnostics Commission has decided that laboratories should only report disease-causing and probably disease-causing variants in their findings. Variants of unclear significance may be mentioned in the findings. Benign and probably benign variants should no longer be reported.

There are five classifications regarding the pathogenicity of mutations/variants:

  • pathogenic- pathogenic (causing disease)
  • likely pathogenic- probably pathogenic (causing disease)
  • uncertain significance
  • likely benign – probably benign
  • benign- benign

More info at:

Untreated patients are driven to suicide

In Germany, the controversy over the “controversial” variants of Fabry disease (a multi-organ disorder) has escalated further. Once again, some patients have had their therapy withdrawn. They had been in treatment for many years and felt a marked improvement in their symptoms. The focus was on devastating pain that could not be managed with standard pain therapy. Children also stopped treatment, although they clearly benefited from it. One child has been treated since the age of 4 and over a period of 7 years. Another child is now about to graduate from high school. Patients whose genetic defect was diagnosed in a stroke are also affected.

The first patients whose treatment was discontinued are already showing worsening symptoms. They are now in despair because they have experienced that the therapy has significantly improved their symptoms and because they now see no possibility of continuing to receive therapy. Parents are faced with the insurmountable task of explaining to their children why they are no longer receiving therapy.

Many of those affected can no longer imagine a life without the therapy and express this clearly. Some have already joined an euthanasia organization.

Patients who are still receiving therapy live with the constant fear that their therapy will also be terminated and have to helplessly watch others being taken off therapy or not receiving it at all.

The fact that these “controversial” variants do not make people ill is repeatedly claimed by various scientists, and there is also talk of a placebo effect. However, there are also other scientists who have proven a pathogenic effect of the variants. Because the experts are not in agreement, the discussion is now being carried out on the backs of the patients.

There is no question that the therapy helps, the drugs have a targeted effect only on Fabry, there is no known random effect in other diseases.

The claim that these “controversial” GLA gene variants do not cause Fabry is simply wrong! On the other hand, we can prove all our statements.

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)

https://www.karger.com/Article/Pdf/431051 (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