Unexplained epileptic fits, psychosis or sudden dementia. They may stem from ‘autoimmune encephalitis’, an inflammation of the brain that is caused by the person’s own immune system. Perhaps due to an undiagnosed cancer setting it off. The recovery often takes years. It fares much better with a personalised course of treatment.
Brain inflammation as a result of a person’s own immune system attacking them. Each year this mysterious disease affects around a hundred to a hundred and fifty people in the Netherlands. Maarten Titulaer, a neurologist at Erasmus MC, has met almost all of them. He heads the international academic expertise centre for autoimmune encephalitis in Rotterdam. ‘It is a fascinating condition. Patients are actually critically ill. However, once you find the cause, it is often easy to treat with immune-suppressing drugs. Obviously, when there’s an underlying tumour, you must also address that. About 80 per cent recover, although it often takes years before people return to their old selves. If they recover fully at all.
Betty
The path I had to take was an ugly one
‘Nobody had realised what was going on. I myself only remember that it was my exam week – and then all of a sudden I had this huge headache. From that moment on, everything went black. I was told this, months later: I became confused. I was sleeping badly, and I became restless and aggressive. People thought I was having a psychosis and I was admitted to a psychiatric institution.
Then the entire image flipped over when I ended up in the ICU suffering epileptic seizures, running a high fever and having breathing problems. I was kept in a coma for a month. It was eventually confirmed as a brain inflammation – which was not visible on a scan. It was caused by a tumour on one of my ovaries. My immune system was attacking my own brain.
Today, a year and a half later, things have improved. I fought hard for it. When I look in the mirror, I see a person who has been through a lot.
Throughout all this time, my life stopped and it’ll never be quite the same again. I’ve been angry, I have cried a lot. The path I had to take has been an ugly one. So how could the healthcare have been done better? That’s the question I’m helping to answer by participating in a study about it. Particularly because it’s a rare condition.’
Patients’ questions
Dioraphte supports the PROMISE study. Titulaer: ‘We would like to be able to provide personalised care. It’s about much more than the medical outcome from treatment and recovery. For instance, what about a person’s cognitive functioning? Or fatigue, moods and ordinary daily activities? How is their quality of life? It’s possible to measure these effects as well, through a questionnaire. During a group discussion with patients, we talked about the ongoing impact they experienced. This was really moving. And it provided us with even more questions to include in the study.’
Improved personalised healthcare
In addition to neurological research and psychological tests, the research team alongside PhD student Juliette Brenner use a detailed questionnaire to follow more than two hundred and twenty patients over a period of several years. Titulaer: ‘This will not only enable us to improve treatment targeted specifically to someone’s individual clinical profile. It will also help us set up better targeted rehabilitation programmes. Better personalised care, leading to better outcomes.’
How are things actually going?
Patients’ input? is crucial, says Titulaer. ‘The treatment is tough; people may be in ICU for a long time. But by suppressing their immune responses, they usually recover well in medical terms. During consultations, the patient will often readily state that they are doing well, particularly when someone was previously seriously ill. However, that still doesn’t mean a patient is able to lead their life as they once did.’ Everyone’s definition of ‘well’ is different, Titulaer explains. Therefore, you need to ask very specific questions to determine how well someone is really doing. It is only then that you can start supporting recovery efforts in the areas of greatest importance to the patient. Ultimately, we should end up with a list of twenty-five of the most relevant questions. This ensures that it is also suitable for the daily clinical practice.
Jumping right into a niche
The support of a fund like Dioraphte is essential for such a rare disorder, Titulaer concludes. ‘For KWF Kankerbestrijding (the Dutch Cancer Society) this condition is not sufficiently “oncological”, whereas for the Hersenstichting (Dutch Brain Foundation) it’s still just too rare. And although we have received many positive reviews from the Alzheimer’s Foundation, Autoimmune Encephalitis does not constitute Alzheimer’s disease. I think it’s great that Dioraphte has the courage to jump into this kind of niche. Which in turn enables us to move forward. The same way our patients can.’
Read more about autoimmune encephalitis in Medisch Contact (2 December 2021) and NRC Handelsblad (7 October 2023).
