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Aug 19 2026
Quality problems of medical research

When I first read that my genetic variant is supposedly benign, I was shocked. “That’s an unfortunate mistake”, I thought. But since, I have read many more medical scientific papers, and it’s not just a mistake, it’s one of many signs of the poor state of medical scientific writing. Before Fabry hit, my field of interest was historical linguistics. In that field of research, no new data can be generated, and new insights are mainly gained from combining the same sources in ever new ways. From this background, I have identified a number problems in medical scientific research. Two of them pose a systematic challenge.

1. The extrapolation trap. Sometimes, no distinction is made between solid conclusions and tentative conclusions that are partially based on assumptions. Regarding my GLA-variant D313Y, there’s the following chain of extrapolations. First, the association between Gb3 deposits and Fabry disease is turned into a causal association. Next, that causal association becomes a singular exclusive pathomechanism. Only then can a variant that does not trigger that pathomechanism be considered benign. The final extrapolation is that, assuming that that specific genetic variant is benign, the Fabry symptoms in patients with that variant must have different a cause. Every time an extrapolation is presented as a fact, that moves the interpretation of data further away from the actual data. In the end, it might lead to a complete disconnect between the two.

2. A miraculous multiplication of sources. Conclusions, including tentative conclusions that are treated as facts, are repeated in review papers. Then, those review papers are cited in other review papers. In the end, there appears to be a large body of literature supporting certain views, without a correspondingly large amount of data to back them up. This effect distorts the relative reliability of specific statements. Certain positions are echoed over an over again (like the assumption that my genetic variant is benign), and other positions, that might be better supported by available data (like the fact the ER stress is a pathomechanism for Fabry disease) disappear from scientific discourse again and again. Which positions are repeated and which vanish is likely partially due to reseacher’s bias. Data which fits exisiting models is repeated, other data ignored. This introduces an element of subjectivity, which has no place in science. Apart from that, it’s the data that doesn’t fit existing models that can really broaden our understanding of the subject matter at hand, so that’s what we should be focusing on.

Other problems include nonsense citations. In this paper, the quote “However, it was clear that such a high dosage of galactose is not practicable in patients with Fabry disease” is in no way backed up by the source that is mentioned. Sometimes, the problem is simple nonsense. In this paper, the quote “AGALopathy is thus not FD, which is based on an enzyme deficiency resulting in intracellular Gb3 accumulation. Thus, AGALopathy cannot be successfully treated with ERT.” is also not backed up by the source mentioned, but even without consulting the original source, the statement is obvious nonsense. Another problem is that research papers are sometimes created to fulfill certain quota, without adding any new insights. The sheer amount of available publications can sometimes make it difficult to assess the robustness of the data underlying given statements, especially in view of the second problem mentioned above.

The peer review process doesn’t work as intended. To prevent each of the above points from happening, there’s a peer review process. Even if most academic researchers write well, all it needs is one or two reviewers who themselves adhere to subpar standards to publish a paper.

By and large, medical research reminds me of archaeology around 1900. Everyone was racing to find something grand spectacular, sometimes dragging of parts of temples or even entire temples from faraway places to Europe. Modern archaeology, on the other hand, involves sifting through endless piles of dust. Even small finds can rewrite history. Similarly, in medicine, there seem to be people who strive for a breakthrough through original research. Claiming that the most common GLA variant is benign sure is a spectacular headline, but in the end, it’s an overinterpretation of data that harms the very people medical research set out to save.

Fabrienne 0 Comments
Aug 4 2026
The extent of the ER stress problem

In my last video, I proposed endoplasmic reticulum stress (ER stress) as a possible cause for ME/CFS and long COVID. In that same video, I presented a list of other diagnoses that may be linked to ER stress. One of my next goals is mapping the total extent of the ER stress problem. My first conclusion: that list in my video was clearly too short.

There appears to be a whole family of diagnoses that are linked through ER stress. However, even a comprehensive review of ER stress in disease pathogenesis doesn’t come close to listing all of the associated diagnoses. So far, I have found

(From the above paper): Cancer, cardiovascular diseases (atherosclerosis, ischemia/reperfusion injury, myocardial infarction, heart failure), neurodegenerative diseases (Alzheimer’s disease, Parkinson’s disease, Huntington’s disease), metabolic diseases (insulin resistance, type 2 diabetes, obesity), autoimmune diseases (rheumatoid arthritis, multiple sclerosis, inflammatory bowel disease).

Additional autoimmune diseases are systemic lupus erythematosus and Sjögrens syndrome.

Another case of an overreacting immune system is mast cell activation syndrome (MCAS).

The pathogenesis of endometriosis also involves ER stress.

Then, there’s genetic diseases like Fabry disease, Ehlers-Danlos syndrome, cystic fibrosis and sickle cell anemia.

ER stress plays a role in a number of eye diseases like glaucoma, diabetic retinopathy, age-related macular degeneration, retinitis pigmentosa, achromatopsia, cataracts, uveal disease, ocular surface diseases and myopia.

Then there are problems which are commonly considered psychological, like autism and depression.

Additionally, ER stress is worsened by viral infections, some bacterial infections and aging. Microplastic, too, might exacerbate ER stress.

This is merely the starting point of my new research. There are likely many more genetic diseases that are related to ER stress. For example, there’s a group of genetic diseases that are termed endoplasmic reticulum storage diseases, including alpha-anti-trypsin-deficiency (AATD) and hereditary hypofibrinogenemia with hepatic storage (HHHS). Are these linked to ER stress, too?

All in all, ER stress appears to be one of the major causes of disease, especially in the modern world. Common symptoms appear to be: fatigue, brain fog, inflammation and the consequences of cell death of the affected cell types. Some of these diagnoses may be risk factors for other diagnoses within this disease family. In some cases, we might be dealing with polygenic phenotypes that do not follow Mendelian inheritance patterns. Polygenic inheritance might even mean that the exact diagnosis within this disease family changes between a parent and a child (I would like to introduce the term “Fabriennian inheritance”). The link between Ehlers-Danlos syndrome and autism is already well established, but even this research paper doesn’t consider ER stress as a possible link.

Overall, the total scope of the ER stress problem would put it on one level with bacterial infections, viral infections and cancer. Still, there is no coordinated research. In the case of Fabry disease, the problems arising from ER stress are not taking seriously, despite being definitely proven. That’s why it’s important to raise awareness for this problem.

Fabrienne 0 Comments
Jul 30 2026
I’m starting a blog

I’m starting a new project. Sometimes it takes a lot of time, before I can publish a new video. That doesn’t mean I’m doing nothing. From now on, I’ll publish new findings and conclusions here.

In my last video I explained why I think that ER stress (endoplasmic reticulum stress) is (part of) the cause for ME/CFS. ER stress refers to a disturbance of a cell’s metabolism that is caused by protein misfolding. Protein misfolding always happens, so it’s not necessarily a problem. But a number of factors can make this problem so much worse that several processes of a cell’s metabolism may be disrupted. Examples for such factors are viral infections and genetic mutations. Causes of ER stress, from my experience with Fabry disease, are brain fog, exhaustion and inflammation. Additional problems may arise when cells start dying because of ER stress. Even though this connection is not proven, I consider ER stress to be a likely cause for small fibre neuropathy. The video, which includes many scientific sources, can be found here:

At the moment, I’m working on three subjects: how many health problems are related to ER stress, what can be done about it, and why is medical research so slow. In the month since I published this video I already gathered many new facts. By and by I will publish them here.

Thanks for reading and have a great day, Fabrienne

Fabrienne 0 Comments