I am Michelle van der Heijden, 34 years old, and I live in Eindhoven with my husband and 1.5-year-old son. I study psychology and am also a patient representative and co-investigator.
All my life, I have had symptoms. From the age of fourteen, I became frequently ill, often had frequent headaches/migraines, struggled to stand still, was often breathless, and, most strikingly, I suddenly could no longer build endurance and muscle strength. Dancing was my passion, but for years I had to keep stopping due to injury and fatigue, only to start again after a difficult few months. And so it went on until I was twenty-two.
In the meantime, I only underwent general blood tests and a lung function test, but everything always came back normal, so the conclusion was always that “it must be something psychological”. Eventually, psychological symptoms did emerge, but more from not being heard, believed, or seen. I asked myself questions like: Am I just lazy? Am I not resilient? Am I a poser? All the things I was often being told? But I really felt that this is not something mental, but truly physical.
When I was twenty-two, my wisdom teeth were removed under anesthesia, requiring me to fast until 1:30PM, and since then, the good periods disappeared. I felt extremely fatigued every day, and dancing now made my legs give out. When I suddenly couldn’t lift my leg while dancing, I quit dancing for good and realized that people might be right after all when they asked if I might have ME/CFS or a muscle disease. An internist finally diagnosed me with CFS when I was twenty-two years old, and at twenty-eight I was also diagnosed with POTS and ME.
However, I began to have more doubts about the ME/CFS diagnosis. The PEM (post-exertional malaise) didn’t manifest in me as it did with others. In fact, after exertion, I experienced only extreme exhaustion, even more muscle weakness, and sometimes headaches/migraines. Also, it often lasted for only two days. I did not have the flu symptoms and the other pains often mentioned. It also seemed that I was deteriorating rapidly in recent years.
Once again, I sought testing in a regular hospital by an internist who is convinced that in 80% of POTS patients, an underlying disorder is the cause. I was also further tested at a mental health clinic and even at university medical centers.
30 years: My breathlessness turned out to be due to Asthma.
32 years: My nausea and bowel problems were due to Lactose Intolerance.
32 years: My cognitive fatigue and some other symptoms were due to Autism.
31 years: But most importantly, the exhaustion, muscle weakness, and exercise intolerance turned out to be due to a very rare metabolic disease (1-100 million).
All these years, it turned out I could use very few fatty acids for energy, due to one of the following diseases: Multiple Acyl-Coa Dehydrogenase Deficiency (MADD), Riboflavin Transporter Deficiency (RTD), or an as yet unknown variant of these diseases. Presumably, the genetic defect is on my Intron DNA, which, hopefully, can be examined in three years, allowing me to finally receive an official diagnosis. If that doesn’t yield any results either, there is still a skin biopsy of mine at the UMCG that will hopefully reveal what is actually going wrong. However, I would need to set up a crowdfunding campaign for that, as unfortunately, the health insurance doesn’t cover the tests they want to conduct, and the required materials cost thousands of euros.
I suspect that the main factor that finally led to further investigation was my CPET (a physician-assisted exercise test). The 2-day CPET indicated that I did not match the profile that you see in ME/CFS. I actually performed better on the second day than on the first day, and, on the first day, I quickly shifted to sugar burning, indicating an issue with my metabolism.
Up until this discovery, I spent almost the entire day on the couch, able to walk for 10 minutes outside with a walker on a rare good day or only able to sit in an electric tilting wheelchair.
Due to treatment for the metabolic disease (high doses of Riboflavin every three hours and Carnitine twice a day), I was able to regain fitness and muscle strength after seventeen years. I could walk for 45 minutes without aids again, ride a bicycle for half an hour, sit without getting a headache, study at my own pace at University, engage myself as a patient advocate and even become a mom. My POTS was also disappeared.
Unfortunately, after giving birth, becoming a mother, and contracting a severe viral infection last April, I deteriorated again. My POTS has also returned (since the beginning of the pregnancy, despite the fact that I was still in full rehabilitation at the time). t also seems that my strength endurance has reached its limit (which is still very low now), but I have rehab at a rehabilitation center. Hopefully, it will turn out that I can continue to work on my endurance in other ways and that I can then at least get back to the level I was at before the infection, allowing me to spend a morning alone with my son, continue my studies, and take on more of my “work” as a patient representative/co-investigator.
What I mainly want to make clear to healthcare professionals with my story is that ME/CFS patients are far from always carefully examined. Before being diagnosed, it is often said to be psychological, but, in my case, the autism diagnosis was missed at the time. Even a simple biomedical diagnosis, like asthma, was not made until 15 years later. Rare conditions, like metabolic diseases, are also rarely looked at. Who says I’m the only ME/CFS patient whose disease was caused by something rare? How rare are all rare disorders when you combine them all together? And don’t forget that it is also often a combination of several conditions.
The diagnosis of ME/CFS is often given too quickly without sufficient biomedical testing for other causes. As a result, everything is attributed to ME/CFS and no further investigation is done. Fortunately, I finally have doctors around me who did look further, and I hope other healthcare professionals can learn from my story.
If you have questions, a case, difficulty with patient communication, or would like to have a chat about this, please feel free to contact me. I am happy to engage in conversation with you. and I can understand both the side of the healthcare professionals and of the patients due to my experience and interest in medicine and psychology.
