Why I study my own disease

Dediqué largos años a aprender el orden y la configuración de las manchas. Cada ciega jornada me concedía un istante de luz, y así pude fijar en la mente las negras formas que tachaban el pelaje amarillo.

Jorge Luis Borges, La escritura del dios

A lot of patients have asked me why I use my little energies to study my disease, instead of just waiting for science to conquer it.

There are many reasons, the first one being that I am desperate because of the cognitive disability that is worse than death. I am not concerned about the physical limitations, at all, even though I have been mostly housebound for the last 20 years. Another reason is that I like computational biology, and I started studying engineering before getting sick with the idea of switching to bioengineering after graduating. So, this is my job.

The other point is that even though I fit the criteria for ME/CFS, I have a rare disease, granted that ME/CFS is not a rare disease: it has a prevalence of 0.4% according to some studies, so it is relatively common. Then why am I a rare patient? Let’s do some calculations: since the median age at onset is 36.6 years with a standard deviation of 12.3 years, the proportion of males is 19% and the proportion of those who are housebound for most of their disease is 25% (R), the probability for a ME/CFS patient of having my same characteristics is (assuming that these are all independent random variables) given by p=0.0075. So, less than 1 out of 100 ME/CFS patients has my type of illness. If we consider also that pain or aching in muscles is present in 59% of patients and it is mostly absent in my case, the above-mentioned probability is even lower: p=0.0031. Which means that only 3 ME/CFS patients out of 1’000 have my illness.

Taken all these data together, the prevalence of my disease in the general population becomes 1/100’000, which means that I have a rare disease, according to the European definition (where a disease is defined rare if it has a prevalence ≤1/2’000) [R]. In the US a disease is defined rare only if it has a prevalence ≤1/200’000, though [R].

And besides that, it is pretty obvious that I am a unique case. I have never found a patient like me, so far. It can also be noted that in Italy, given a population of 60 million inhabitants, those who have my condition are only 600. This might be the reason why I haven’t met them, yet.

This means that I am probably the only one who is studying my disease, on the planet! This is why I’m doing what I’m doing.

Above, my personal book of immunology, built page by page, paper by paper. I have three other books about this discipline. One of them was a gift from a neurologist that perhaps thought that gift was the only thing she could do to save me. Another one is a very sophisticated text on cutting edge immunology. But this one is the best one because I have selected and read each one of its pages. It is by no means a complete book, it is mainly focused on B cells and B cell autoimmunity, but it has been very useful.

I have built several other books like this, on computational methods in immunology, on metabolism, on neurosciences, on microbiology, and on some diseases: Lyme, ME/CFS, mast cell activation, POTS…

I have learned a great deal, even though outside academia. But I had no choice, I have been too sick and too slow to study at university: I had only a few weeks in which I could study, and then months or years in which I had to wait. This has been my routine. Moreover, given the lack of energy and time, I had to study only what was truly important for my health. Because my goal was to cure myself and save me from a lifetime of cognitive disability.