Galactose treatment for Fabry disease

While reviewing the video scripts of my galactose videos, I noticed that they lack structure. I was putting out information as I gathered it, but that means that patient experiences and technical details ended up together in each of my three videos. So in this post, I’ll try to summarize the most important information in a more coherent fashion. I think it’s obvious to most that I was the one who came up with the whole oral galactose idea, even though, in my videos, I put a bit differently, to make it absolutely clear that whatever I say about galactose does not constitute medical advice and is no replacement for a consultation with a physician. Even though I now feel safe to say that the idea was mine, that caveat remains in place for this blog post too: whatever I say about galactose does not constitute medical advice and is no replacement for a consultation with a physician. Note, however, that people who are affected by galactosemia should refrain from taking oral galactose.

Galactose is a sugar that has a very similar structure to one of the available Fabry medications: Galafold. Galafold is an oral Fabry treatment that works as a pharmacological chaperone. A chaperone is a small molecule that aims to improve the production of a patient’s own enzyme. This is a different approach to enzyme replacement therapy (ERT), which, as the name suggests, aims to completely substitute a patient’s own enzyme.

Here are a few differences between chaperone therapy and ERT. As a small molecule, chaperone therapy can pass the blood-brain-barrier. As an oral therapy, it doesn’t require wounds that can pose an infection risk. The risk of allergic reactions is much less for chaperone therapy, and there is no risk for an immune resistance. However, chaperone therapy doesn’t work for all Fabry mutations. Mutations that cause a complete loss cannot be salvaged and have to be substituted using ERT. Chaperone therapy is mainly used for missense mutations that cause a moderate loss of enzyme function (amenable variants). Some of these genetic variants are very common (affecting up to half a percent of the general populace), and some have been declared benign. However, recently it has been proven that ER stress is in additional cause for Fabry disease. This secondary cause of Fabry disease was overlooked when these variants were declared benign.

Many people who are affected by these common Fabry variants do not receive treatment, including me. I started self treatment using galactose (there are two papers about galactose treatment for Fabry disease, one in cell cultures and one with a single patient). Initially, I used 0.1 gram per kilogram of body weight. That amounts to single doses of e.g. 6 grams for a 60 kilogram person. I took at least four of such doses, or sometimes up to six, a day. At least an hour before and after each dose, I didn’t eat or drink, except water. The reason: the body prefers glucose of galactose, so if glucose is present in the body, galactose isn’t absorbed as effectively.

Galactose needs to enter to blood stream to work. However, when ingested, a share of that galactose is turned into glucose in the liver, making galactose less effective. The workaround I used: galactose can be absorbed into the blood stream by the oral mucosa. So by leaving it in the mouth for a few minutes, galactose uptake can be greatly improved. This process is further enhanced by adding a pinch of salt to the galactose, allowing the SGLT1 sugar transporters to work more effectively.

Lately, I have been making galactose lozenges. That means that I mix galactose, one percent salt and water to create a viscous mass. Then I pour that mixture into silicon baking molds for candy, and let the water evaporate. With the molds I use, that yields galactose lozenges of 4 grams each. These dissolve very slowly in the mouth, yielding a continuous benefit over longer periods of time.

There are some experiences I want to mention. Initially, the body (including digestion) may need to adapt to galactose treatment, so it’s better to start it slowly. Galactose doesn’t solve every problem instantly. Some symptoms, like brain fog and exhaustion, improved quickly (within days or weeks) and still keep improving after three years. Other symptoms, like food intolerances and inefficient sweating only improved after years of treatment. Occasionally (every few months), I have a few days with flu-like symptoms, and on such days I really need to take things slowly. My theory is that aggregates of misfolded proteins keep dissolving and cause an immune reaction. On good days, I might feel like I can do lot, but I still need to take things slowly, or else I will have some really bad days afterwards. Galactose doesn’t replace pacing. My guideline: I can do the same as I did before treatment and feel much better, or I can do a lot more and feel equally bad as I did before treatment.