Figuring out what was behind the challenges I’ve faced in my life has felt a bit like a dog chasing its tail. I remember one conversation with my doctor. I was detailing my concerns and expressing my frustration with him over so many of my symptoms that affect my life being common to so many different conditions. Never once did he link any of the challenges, or how I was experiencing them, to my autistic system.
What does comorbid mean?
According to Webster’s dictionary, the definition of the word comorbid is as follows: “existing simultaneously with and usually independently of another medical condition”. Unlike my initial reaction upon hearing the word and attempting to derive its meaning based upon my limited knowledge of English, comorbid does not have anything to do with a risk of imminent death. It simply means that, in the case of an autistic person, other conditions may also be present.
Comorbid conditions imply a requirement for a separate diagnose and treatment / management for these additional conditions, whilst also meeting the challenges being autistic in a system not designed with us in mind. This comes into play especially when the condition involves pain or pain management. Those of us with sensory processing issues have the same pain thresholds as everyone else, but we each experience pain in a unique way.
In Autism Medical Comorbidities, researcher Mohammed Al-Beltagi notes that certain genetic conditions tend to be present in autistic people.
Medical comorbidities are more common in [autistic people] than in the general population. Some genetic disorders are more common in [autistic people] such as Fragile X syndrome, Down syndrome, Duchenne muscular dystrophy, neurofibromatosis type I, and tuberous sclerosis complex. [Autistic people] are also more prone to a variety of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headaches, and congenital abnormalities of the nervous system.
It’s the end of that last sentence that attracted my attention. I have erythromelagia.
Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. The incidence rate of PE ranges from 0.36 to 1.1 per 100,000 persons. Gender ratio differs according to different studies and no evidence showed a gender preference. Clinical onset of PE is often in the first decade of life. Burning pain is the most predominant symptom and is usually caused and precipitated by warmth and physical activities. Reported cases of PE contain both inherited and sporadic forms. Genetic etiology of PE is mutations on SCN9A, the encoding gene of a voltage-gated sodium channel subtype Nav1.7. Diagnosis of PE is made upon clinical manifestations and screening for mutations on SCN9A. Exclusion of several other treatable diseases/secondary erythromelalgia is also necessary because of the lack of biomarkers specifically for PE.
As I’ve written before, I’ve had the issues that are now diagnosed as erythromelagia for my whole life. I’ve been told to lose weight. I’ve been told to change diets. I’ve been examined six ways from Sunday. The problems with western medicine have conspired against a quick diagnosis. Like autism, there’s no real test for erythromelagia. You have to present at the doctors with the symptoms, and they have to rule everything else out. Thus, it’s been a long, slow, and painful trek to a diagnosis.
But, notice what Al-Beltagi says in his work. Autistic people often have comorbidities related to the nervous system. With erythromelagia, aka “man on fire syndrome,” there is severe burning pain in the small fiber sensory nerves accompanied by skin redness and swelling of the affected area. In other words, a problem with the nervous system. It would have been nice if my doctors would be educated on these issues with autistic comorbidities. Had they, they could have seen the obvious symptoms, the fact that I’m autistic, and worked from there. But, no. Sadly, in western medicine, each condition is handled in isolation.
Wintertime often sucks for those with erythromelagia
With erythromelagia, the pain is brought on by exercise, long standing, and exposure to warmth. Anything that causes a temperature shift in your affected area can trigger a flair up. For me, winters are extremely problematic. Here in California, people seem afraid of the cold. Thus, at the first sign of winter, often beginning in late October, indoor heating is cranked to “the fires of Hades” level. The temperature difference from being outside in the cool or cold, to entering Hades, is often in the order of 30-40 degrees Fahrenheit.
In school, the expectation is that I’m up and moving about the classroom. Admin doesn’t like to see teachers sitting. This means that I’m on my feet most of the 6 hour day, plus walking between my classroom and the rooms in which I provide support (most of which are on the third floor). I also means moving from the cold outside to the overheated inside. By the end of the day, my pain threshold is being tested.
As a Freemason, “floor work” is done on your feet. I’m currently Director of the Work at my Scottish Rite Valley, which means I’m constantly up and moving around. This is usually done on Fridays, after a full work week. I am having fewer and fewer spoons for this.
Erythromelagia is an “invisible” disability
I have a handicapped parking placard. When people who don’t know me see me parking in the handicapped space, getting out, and standing up on my own, I often get scowls and dirty looks. Whilst I have a cane for when things get unbearable but I still have to move about, I don’t like to use it. Like many autistic people, I’m a bit stubborn with routine (and the cane is not in routine use).
Erythromelagia, like a lot of autistic comorbidities, is an “invisible” disability. The primary problem with it is pain. Pain indeed is the most disturbing symptom affecting erythromelagia patients and can be disabling. The pain is usually bilateral, intermittent and severe, more often involving lower extremities than upper extremities (for me, it’s my feet). Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation, with the durations of which ranging from several minutes to hours and even days. Pain symptoms are worse at night and are usually provoked and exacerbated by heat (or changes in temperature), ambulation, physical exercise, sitting, leg dependence, and coverage of affected area (I can’t wear tight socks or well-fitting, unventilated shoes). Cooling and elevation are most effective ways to relieve pain symptoms. I use BioFreeze, Aspercreme with lidocaine, and prescription strength lidocaine cream (local anesthetics such as lidocaine and mexiletine prevent or relieve pain by interrupting nerve conduction) as symptoms escalate up the pain index. Sadly, due to the intense and lasting pain, many who suffer turn to narcotics for relief, often to find themselves addicted, but still in profound pain.
Other “invisible” comorbidities
Al-Beltagi notes several comorbidities related to the Gastrointestinal (GI) tract.
Gastrointestinal (GI) disorders are significantly more common in [autistic people]; they occur in 46% to 84% of them. The most common GI problems observed in [autistic people] are chronic constipation, chronic diarrhoea, gastroesophageal reflux and/or disease, nausea and/or vomiting, flatulence, chronic bloating, abdominal discomfort, ulcers, colitis, inflammatory bowel disease, food intolerance, and/or failure to thrive.
Here again, using the lens of my own experience, I can say that I’ve experienced all of those GI problems listed. Again, doctors treated them as separate issues and not in relation to my autistic system. Other studies have shown that a lot of the GI issues are related to an out of control Fight/Flight response. We’re prone to panic and anxiety. From an evolutionary standpoint, we’ve evolved to not have to go to the toilet whilst being chased by a large hungry animal.
The remaining GI issues, in my case, can be tied to my intolerance of histamines. Once I found a clinical nutritionist, and gained a awareness of just how to fuel my system (as designed), I was able to relieve all of these symptoms without medication. To my mind, this means that perhaps the autistic system does not tolerate the Western Diet all that well.
[S]leep disorders are a significant problem in [autistic] individuals, occurring in about 80% of them.
This is me as well. I can’t shut off my brain and fall asleep. I still don’t know if it’s my autistic system, my ADHD, or my BPD (BPD1). Research shows that the genes involved in autism are also involved in these as well. Nevertheless, I have modified the timing of my eating to help. I eat all 3500 of my daily kcals before noon. In this way, by bed time I’m mostly ready to fall to sleep. If, for example, I eat a full dinner at the usual social dinner time, I will be up all night. In some cases, adding so much fuel so late in the day can trigger a BPD1 episode. In those cases, I can be up for a day or two before crashing. These insights, again, came with the help of a clinical nutritionist (not a Doctor or a psychiatrist).
Conclusions
In the West, our medical system is profit driven. This gives rise to a system of “cures” being peddled upon patients. My GI issues? Take a pill. Still having issues? Take a different pill. That pill had side-effects? Keep taking the pill, but here’s another pill to manage the side-effects. When I finally visited a clinical nutritionist, I was on 11 different drugs and had gained about 150 extra pounds - many do.
Sadly, most doctors here aren’t willing to use erythromelagia and chronic pain in the same sentence. The US’ system is dedicated to keeping costs down and profits up, so any chronic designation is tough to acquire. Thus, therapies and management of chronic pain is better in countries with a national health service (Canada, Switzerland, etc.). Also, the political situation in the world puts potential therapies found in Russia, Cuba, or China mostly off limits to US citizens (those with exceptional wealth can find help anywhere in the world). Finally, innovations like microdosing ketamine aren’t permitted here in the “Land of the Free.”
Thus, this piece serves as an information sharing attempt infodump. There are a lot of medical issues that are comorbid with each other. Don’t be afraid to push back when your doctor’s only or first solution requires you or your loved one to take a pill. Yes, many have become simple drug dealers in the West. But, now you know better. Get a second or third opinion. Ask to see a clinical nutritionist. Seek out traditional medicine practitioners.
If you do, for example, seek out a doctor of Classical / Traditional Chinese Medicine, you must understand the cultural differences as well as the underlying premise of their medical practice. For example, for my diagnosis of autism (with communication difficulties but without cognitive impairment) would be classified as Type Ⅱ autism in China, which is chiefly caused by either heart channel blockage or heart-qi deficiency. A person with Type II ASD may have few or no disorders involving other organs except the heart, manifesting as poor communication ability or stereotypical, repetitious behaviors. With this in mind, the main goals of treatments in China are to reduce the associated deficits and family distress, and to help the autistic people increase functional independence for a better quality of life.
Finally, feel free to share this information, and the associated links, with your care provider. Let’s get conversations started. Who knows where they will lead …