On Chronic Fatigue Syndrome
It's Real, It's Horrific, and You Should Pray You Never Suffer From It.
Yesterday, the eminent Scott Alexander posted a review of the book Exhaustion on his Substack page Astral Codex Ten. Exhaustion is a book about a condition commonly called chronic fatigue syndrome (CFS) by those who don’t suffer from it. Those who do suffer from it usually call it myalgic encephalomyelitis (ME) or CFS/ME.
Scott wrote a good review and I’m glad to see him use his incredible platform to raise awareness of CFS/ME. His review provoked over 175 comments in the last 24 hours, which is more attention on the web than CFS/ME usually gets outside of its activist groups. Sadly, Scott’s commenters are reacting with the usual reaction that those outside the patient community have to CFS/ME: They are assuming its sufferers are malingerers, mentally ill, deconditioned, psychosomatic.
They’re not. CFS/ME patients are very ill with a very real, very physiological disease. I know because I’m caring for one. In fact, I’ve been caring for a CFS/ME patient for 13 years. The patient is my wife.
In response to the unfortunate negativity I read on Scott’s comments, I’m going to talk a bit about my wife’s health journey now. Since I know my readers come here for essays on philosophy, evolution, economics, and so on, I hope that you will excuse this interlude into topics so far outside my usual Contemplations on the Tree of Woe. It is not often that the most widely-read blogger on Substack calls attention to a situation of such personal gravity to me and it feels necessary to take advantage of it.
When we met, my wife was an exceptionally active and intelligent woman, with an MS in Biomedicine, who went dancing regularly, enjoyed eventing (horseback jumping/riding) with her two thoroughbreds, and worked full time.
Today she is bedbound 50% of the time and homebound 85% of the time. (Until recently she was bedbound 85% of the time and homebound 100% of the time but treatment has begun to improve her health — see below.) The loss to her quality of life, and to mine, from CFS/ME has been profound.
My wife and I are fortunate to live in a city renowned for its medical specialists and to have had the resources to get her good healthcare. She has used her scientific background to identify specialists worth speaking to, and I’ve supplied the energy to make the appointments and schedule the trips. Together we have spent hundreds of hours with the best doctors in our state.
But for the first few years all our effort was of no avail. She grew sicker and sicker every day. By 2011 she was completely bedbound and I had to have a family member move in with me to help care for her.
By 2015, my wife’s disability was so profound that even her eye muscles had become weak. Her eyes began to droop, making it hard for her to even read — one of the few hobbies left open to her! Because of this ptosis, a neuromuscular specialist ordered a muscle biopsy. The muscle biopsy revealed abnormal oxidative staining patterns suggestive of a mitochondrial disorder. This finding was supported by morphologic mitochondrial changes detected with further tests.
The specialist therefore referred us to a mitochondrial disease clinic, which ordered a whole exome scan. In the whole exome scan, they discovered that my wife had a number of deleterious mutations in her exome.
She had two mutations associated with Adult-Onset Glutaric Acidemia Type 2, which interferes with a person's body and its ability to break down fats and proteins to produce energy. (Simply put, only carbs can provide energy for her; eating fats and proteins leads to, not only limited energy, but metabolic acidosis. Moreover she cannot store energy for later.) GA2 is fatal in children. It's ultra-rare in adults — only about 300 adults have been diagnosed with it ever. But is that because Adult-Onset GA2 is that rare, or because almost no one has the time and money to find the specialist who has heard of it, let alone can diagnose it?
The whole exome scan also discovered:
- A heterozygous change in the CYT-B gene. When two changes are present it can cause a mitochondrial disorder called Complex 3 Deficiency. When one change is present, it can manifest with partial symptoms (called a "manifesting carrier").
- A heterozygous change in the Suc GL1 gene. When two are present it can cause a mitochondrial disorder. With one present, it can manifest with partial symptoms.
- A heterozygous change in the PMM2 gene. When two are present it can cause a mitochondrial disorder. With one present, it can manifest with partial symptoms.
My wife’s doctors concluded that she had so many mutations affecting her mitochondria that the overall result was a mitochondrial pathology. If homozygous mutations are like having your hand cut off, heterozygous mutations are like having a finger cut off. She had all her fingers cut off, which amounted to losing the hand, as it were.
Her specialists also discovered that she had Ehlers-Danlos Syndrome, a connective tissue disorder that can interact with CFS/ME and mitochondrial pathologies in very difficult ways.
She is now on a complex "mitochondrial cocktail" of drugs and supplements to provide her cells with what they need, as well as on high-dose riboflavin for GA2 and a special diet that is high-carb, low-fat, and low-protein. This package of treatments has helped make it possible for her to be out of the bed half the time, and to leave the house for a meal or coffee once a week. When you have lived like she has lived, leaving the house for a cup of coffee becomes a treasure you prize like a trip to Disneyland.
To those of you who are suffering CFS/ME, or caring for someone who does, you have my profound sympathy. It is a disease I would not wish on my enemies (of whom I have many). If you can afford it, I urge you to find a mitochondrial specialist and get a whole exome scan to see if you can get answers. There is ever-increasing evidence linking CFS/ME with mitochondrial dysfunction and with Ehlers- Danlos, both of which are genetic. I believe we will eventually come to understand it as a syndrome consisting of various poorly-understood adult-onset mitochondrial pathologies accompanied various with connective tissue disorders. For your day to day disease management, I highly recommend the Hunter Hopkins Institute in Charlotte, NC.
To those of you who don't think CFS/ME is a physiological illness, I hope this detailed explanation of my family’s years-long struggle with CFS/ME helps change your mind. There was a physiological cause all along, but discovering it was a Herculean effort, and it required tests that were not readily available a decade ago.
Our health care system is exceptionally poor at diagnosing and treating complex multi-symptomatic illness, and the people with this illness need support and help. All too often, they get contempt and derision instead. They aren't mentally ill malingerers. They are physically ill victims suffering in a profoundly awful way that we should pray we never experience.
To have CFS/ME is to truly be crucified on the tree of woe.
My deepest sympathies to you!
I would quibble that CFS is A disease. It's a symptom set that can be caused by multiple different diseases. (Imagine doctors talked of runny nose disease.) For some, it's extended mono. For others it's a microscopic parasite. I am saddened to hear that it's genetic for your wife. That is true woe.
I'm sorry to hear about the condition, but heartened to hear that the new meds are having a positive impact. It really is unfortunate when people assume malingering or somatization, and tragic when a medical provider does it. I think we would all do well to get more comfortable with not knowing the answers and holding the most charitable assumptions about others we can. Even if a condition does have a psychosocial component (really everything does), this disposition is required if you have any hope to treat someone in a way that they'll believe you have any interest in helping them.