On Autism & Chronic Fatigue Syndrome
When I was in second grade, a little girl started calling me Weird One. I was elated. I felt that I had been knighted with some sort of public identity and it felt wonderful. I felt as though I belonged in some way and I hardly ever felt as though I belonged at all.
That same year, classmates pointed out to me that I stood strangely. I had no idea. Looking down at myself, I realized that my hands were drawn up as if holding dangling dust rags, poised to begin cleaning the house. Knees bent backward, stomach poking out much more than normal for an eight-year-old, more like a two-year-old. I had no idea my posture was this awkward until another child pointed it out to me. I made a point of monitoring my posture from then onward.
The year before, as a first grader, I couldn’t understand the game played the entire year where all the little boys and girls pretended they were boyfriend and girlfriend, a merry-go-round of who was currently “going out” with whom. I took stock of the situation quite seriously and determined that I was not actually romantically attracted to any of the boys. I decided therefore that I must be gay, barely knowing what gay was, but knowing it had something to do with not being attracted to the opposite sex.
It’s not that I was gay; I grew up to marry a man. But I couldn’t naturally understand the games that other kids played any more than I would naturally have been aware of standing abnormally.
My parents pushed me to call other children on the phone to arrange play dates, but I was terrified. I was happy enough playing by myself, working on intricate projects. The same year I was given the name Weird One, I was intently focused on projects like creating mosaics made out of pastel-colored foil candy wrappers, cutting and painstakingly gluing them into designs of lilies, the warm and cool colors arranged to give the impression of three-dimensionality.
It would take me nearly 30 more years to realize I was autistic. I had the intuition as a teenager that if I had a male child, he would likely be autistic. But not me, I was just autism-y or autism-ish.
Instead, I reached the conclusion that I was not just not good at things, things that other adults took for granted, things that I should be good at, but was not. I bumbled from one jarring social failure to the next not knowing why I could not stop myself from being inadvertently off-putting or offensive to people or uttering what would turn out to be strange or inappropriate comments.
I didn’t understand why it was so hard for me to make friends, to be tidy and organized, to pay bills on time or generally to look after myself in a fully adult fashion. In my thirties, I was lost figuring out how to dress professionally for my first real job.
I followed a set of rules that involved not discussing other people’s closely held beliefs, being extremely careful when talking about the death or serious illness of loved ones, never talking about sex and above all never telling the truth about my thoughts and feelings because too many times I found out that these were not shared by other people. When in doubt, my rule was to say nothing. I am in doubt a lot and people almost invariably describe me as quiet.
Because I am female, because I had no speech problems as a child, because I did not line up objects or fixate on spinning things or train schedules, it did not occur to me that I could be actually autistic. It did not occur to my family, my teachers, or my psychologists. Instead, I was diagnosed as shy, anxious, and depressed. My family largely agreed that I was simply, and frustratingly, just not good at things that I should be good at.
But perhaps I was a textbook autistic girl. Like many autistic girls, I was a serious reader. I spent much of my time outside school reading. In retrospect, fiction was a social place for me, but one that was safe. When you read books and you don’t understand why the characters are acting as they are, you can flip back a few pages, review and think about it a while. No one will make fun of you.
Also, like many autistic girls, I was very fond of and interested in animals, who make for safe and non-judgmental companions. As an adult, if I enter a room full of people and one dog, I am drawn to the dog like a magnet.
As a baby, my parents tell me I was extremely focused on my ongoing project of spying lint balls from afar and crawling across the floor to approach them, carefully licking my finger, dabbing the lint ball and placing it in my mouth. As a toddler, I drew my cat, with her characteristic grey mask, literally hundreds and hundreds of times.
I suspect that these behaviors were early symptoms of a tendency to a narrow hyper-focus that manifested in later years as successive special interests. I have had too many special interests to count: drawing, Dalmatian dogs, porcelain dolls, horses & ponies, American Girl dolls, the Amish, Amish quilts, Hawaiian quilts, Hasidic Jews, Weddings, recipes, handmade fine jewelry, all things biology and medicine, and so on. Special interests are like a place to go to, a place where I have felt the best, the happiest, the calmest and the most normal.
As an adult, if you talked to me for a while, you might quickly identify me as quirky, but you would probably not guess that I have echolalia, a symptom of autism where you repeat phrases heard elsewhere or just sounds, like meows. It’s not something I do in public any more than I flap my hands in public. But alone, or with just my husband, especially in the early morning hours or late in the evening, when my brain is partially offline, you might catch me meowing or slowing saying nonsensical strings of words, savoring the sounds of each syllable: ”Furstenberg, Dalit, Chicago, Twain, tailwind, ranunculus, tango, quail, robot…”
You would not guess that I flap my hands in private when upset. You would also not guess that I sometimes have trouble recognizing faces or realizing when I’ve been asked a question or knowing when it is my turn to speak in a conversation. You would not guess that my husband explains things to me like if you want to have a constructive, pleasant conversation with someone you disagree with, make sure to begin the conversation stating the things that you do agree with them about.
When I was diagnosed at thirty-five, I was not surprised. I had figured it out before the psychologist did. But I cried all the way home. I had always thought I would be able to fix myself.
At age 10, when I had finally become quite depressed, my father handed me the self-help books he had acquired it to help him cope with the death of my older sister from leukemia. I dutifully made tapes of myself talking to my inner child, desperate to escape the awful feelings I felt except when engrossed books, pets, or obsessing over Dalmatians or other intense interests. But the self-help didn’t work.
As I grew older, I saw a child psychologist, then an adolescent psychologist, then adult psychologists. Most I thought were excellent. None helped me escape my anxiety and depression. None was able to help me feel comfortable or competent in the world, because unbeknownst to us all, depression was not actually the root problem.
Currently, men or boys appear to be far more likely to be autistic, but recent research suggests that we don’t recognize when girls and women are autistic. We don’t yet have an accurate count of autistic girls and so we can’t really say yet what the ratio of boys to girls is. Autism may be far more common in girls and women than we realize.
Autistic girls look different than autistic boys. Girls with autism are much less likely to have boy-typical fixations like spinning objects and are more likely to have typical girl interests, but with an unusual intensity. They may play with typical girl toys but may collect them, line them up, set them up in scenes, but not play with other kids in a way that uses back and forth pretending.
Autistic girls are also much more likely to be able to mask their symptoms by imitating neurotypical children in their early years, with symptoms only becoming more pronounced when they are not able to handle sophisticated social situations in adolescence.
A widely used test for detecting autism called the Autism Diagnostic Observation Schedule (ADOS) misses significantly more girls than boys because it relies on a boy-typical model of autism. Girls score lower on the measures for restricted interests and repetitive behaviors, despite autistic boys and girls otherwise having equal social difficulties.
Because we think of autism as a developmental disorder, you might expect that I would never get better, except perhaps by being trained in developing social skills and other behavioral therapies designed to help me cope.
But rather than being static or improving only with social training, the course of my autism is quite variable. In my life, I have had times of feeling something close to neurotypical and I have had huge increases in autistic symptoms at other times. When I have a fever, I become very cheerful, confident and talkative. 83% of autistic children have a similar reduction in autistic symptoms in response to fever.
John Rodakis of the N of One Foundation, which supports breakthrough research in autism, started his foundation after noticing that his autistic son improved markedly after a course of antibiotics. I improve after antibiotics as well.
I have mold allergies and was very autistic during college when I lived in a city with high mold allergen counts. In fact, in St. Louis where I went to college, I would decompensate in late August each year as the mold levels began their seasonal rise. As fall progressed, I became scarcely able to put sentences together to communicate with people. Any friendships I was able to start to establish in the summer when mold levels were lower, would unravel in the fall when I descended into deeper strangeness.
A variable course to autism, at least in certain subsets of autistic individuals may actually be par for the course.
Autistic burnout is a concept in the autistic community that refers to a loss of function in multiple areas. This is not a clinically recognized phenomenon, but it is a well-known enough idea in the community that perhaps we should be listening to people with autism about this experience.
People often link autistic burnout to exerting too much effort attempting to appear normal, spending too much time in overstimulating situations or being exposed to other prolonged stresses. According to an infographic from the Autism Women’s Network, lethargy and exhaustion may accompany autistic burnout, as can losing the ability to speak, cognitive impairments, increased sensory hypersensitivity, and digestive problems. Autistic burnout generally entails becoming “more autistic.”
Autistic burnout is used interchangeably with “autistic regression” in the autistic community. A behavioral regression in the first few years of life often precedes an autism diagnosis and this type of autism is termed regressive autism. A child with regressive autism suddenly loses language and disconnects from the people around her.
I think of Cynthia Kim when I think about autistic regression in adults. Cynthia Kim is a marvelous writer who kept a well-known blog called Musings of An Aspie about living as a woman with autism. It was beautifully written, one of the first blogs I found when I started considering that I might be autistic.
Sometime during perimenopause, the years of hormonal upheaval that occur prior to menopause, Cynthia began to lose her language ability and ultimately discontinued blogging in 2015. Cynthia herself linked these changes in her autism symptoms to changes in her hormonal state.
Calling autism a developmental disorder suggests that something went wrong a long time ago and that current symptoms are a result of that early neural deviation. A developmental disorder should be fairly static. Yet the course of autism with its ups and downs has more of the pattern of an illness.
Dr. Robert Naviaux at the University of California San Diego studies autism. He is an expert in the field of metabolomics. Dr. Naviaux’s work focuses on finding disease-specific patterns in all of the little molecules that are the ingredients and products of metabolic reactions in the body.
His research has found a distinctive metabolic pattern in autism that points towards an unending process of inflammation. The persistence of this process causes problems in pathways that affect systems all over the body.
Inflammation is an immune system response that starts when you injure yourself, when you have an infection when you encounter a toxin or even when you encounter emotionally stressful events. Inflammation is the beginning of a purposeful, protective process designed to end in healing and a return to normal function and health.
A cut on your hand, for example, would initially be surrounding by the swelling and redness of inflammation. Then as time passes, that would subside and other mechanisms would take over that clear away damaged cells and lay down new, healthy tissue. Your cut would close up and heal and the redness would be gone.
When you catch the flu, inflammation initially fights the infection but when the infection is gone, anti-inflammatory processes take over to return the body to a state of normalcy. When the state of normalcy is reached, you stop feeling sick and start feeling good again. You have healed from the infection.
It appears that, in autism, something is stopping the inflammatory process from ending so that the body never reaches the point of healing and never returns to normalcy. When this relentless inflammatory process begins very early in life, the developing brain, uniquely vulnerable to persistent inflammatory states, goes off track.
But perhaps the damage is not permanent. Dr. Naviaux has identified drug called suramin, an old drug used to treat African sleeping sickness, as a possible treatment to stop the ongoing inflammatory process and allow healing to proceed. In an animal model of autism, suramin not only reversed problems in numerous metabolic pathways known to be significant in autism, but it also normalized social behavior.
Parents of autistic children often wonder if a healthy, social version of their child hides somewhere within the disabled child they care for on a day to day basis. This may very well be the case.
Dr. Naviaux has conducted one small study of suramin in a group of autistic boys and another study is planned. The first study is too small to have bullet-proof confidence in the efficacy of the drug or to be able to reliably discover all possible side effects, but the parents’ evaluations of their children’s response to suramin were remarkable.
One parent likened their child to the patients in the Robin Williams movie Awakenings, in which catatonic patients rendered unresponsive to the world by brain damage were temporarily awakened by a drug. After decades of mutism and stillness, these “ghost”-like patients awakened to be their former selves, talking, laughing and interacting with others.
One child, whose parents described him as “locked in by his disease”, emerged for a few weeks. He became cheerful and “at ease in his own skin”, started trying new foods, speaking in whole sentences for the very first time, trying to make his therapist laugh and requesting to spend time with his father. Weeks later, this child returned to his baseline state.
Another parent said, “We have tried every new treatment out there for over 10 years. Nothing has come close to all the changes in language and social interaction and new interests that we saw after suramin. We saw our son advance almost three years in development in just six weeks.”
Autism is not the only illness with this pattern of prolonged inflammation and a failure to return to normalcy. One of these other illnesses is a poorly understood, underfunded, often belittled illness called chronic fatigue syndrome (CFS). In other parts of the world, outside of the United States, the same syndrome is called Myalgic Encephalomyelitis (ME). Many researchers refer to the syndrome as ME/CFS.
ME/CFS entails a sudden or gradual onset of severe, unrelenting fatigue with a tendency to markedly worsen with normal amounts of activity. For a majority of people with ME/CFS, the illness starts with an infectious illness of some sort, but then the person never recovers.
Patients experience flu-like malaise, widespread pain, difficulty sleeping, multiple allergies, sensitivity to light and sound, and cognitive problems. There is no treatment currently.
The film Unrest, created by ME/CFS patient Jen Brea, was nominated this year for an Oscar for best documentary. It vividly illustrates the plight of people with ME. 25% of sufferers are bedbound or housebound and 75% are unable to work. Estimates suggest that 15-35 million people across the globe have ME/CFS.
For decades the dominant explanation for ME/CFS has been that it is not real and exists primarily in the minds of patients. More recently, the findings of numerous researchers have pointed to clear biological abnormalities in the illness.
Dr. Naviaux works with the Open Medicine Foundation to research ME/CFS. The OMF is a foundation dedicated to finding treatment for the illness as quickly as possible. One of the founders of the OMF foundation, Ron Davis, is a researcher at Stanford University. His son is severely affected with ME/CFS and has been bedbound for years.
According to Dr. Naviaux’s findings, the pattern of metabolic dysfunction in ME/CFS patients is very similar to that found in autistic people. They are on the same spectrum of relentless inflammation coupled with an inability proceed to a state of healing.
According to an article on the OMF foundation website: “Dr. Naviaux has encountered teenagers with ASD who develop ME/CFS, and adults with ME/CFS who develop autism-like symptoms of mutism, social withdrawal, sensory hypersensitivities, and OCD-like symptoms.”
When I was sixteen, I became ill with ME/CFS. After an episode of apparent food poisoning and what was for me a profoundly stressful period of ambivalence about breaking up with a boyfriend, I suddenly stopped sleeping almost entirely. I became so sensitive to every smell, sound, fluctuation in temperature or hint of light that even when I could get to sleep, which was often not until four in the morning, I woke up within an hour.
I was unable to stand or hold myself upright for an extended period of time. I dropped every class I didn’t need to graduate high school and spent my free periods laying around in hallways or in empty classrooms.
Beset with strange symptoms, I developed hot flashes and flushing. While at school, my cheeks, nose, and ears would flush bright red. I spent class time laying my hot cheeks on the cool desks, first one side and then the other.
I began to sweat profusely, like raindrops rolling down my sides. I once lost control of my bladder at school. I developed a slight stutter, severe anxiety and became chronically, unbearably irritable. My social function went downhill fast.
At the same time, like many ME/CFS patients, I developed something resembling dementia. I would forget what I was saying in the middle of a sentence. Rarely would I remember why I had walked into a particular room. I would mix up left and right, positive and negative numbers. Adding, subtracting, or focusing on anything was painful or impossible. My memory for events was shot. I barely remember any of high school or the years afterward.
I had become disabled.
Many parents of autistic children will recognize my ME/CFS symptoms of red cheeks, extreme difficulties with sleep, anxiety, irritability and sensory hypersensitivity from what they see in their own children. Perhaps what happened to me at sixteen is similar to what happens to some children as toddlers when they develop regressive autism.
If ME/CFS and autism share a mechanistic link, then at least certain subsets of people with autism stand on a precipice of developing ME/CFS. I suspect that many more who do not get outright ME/CFS experience milder symptoms of the same sort, like unusual fatigue or widespread pain. It is easy for me to find other autistic women with these symptoms and I think the reason why we have not seen the connection clearly before now is the under-diagnosis of autism in females and the under-appreciation of ME/CFS as a physical illness.
When I first got sick at sixteen, I thought by the time I was twenty-five, that there would be much progress in research about my illness. Twenty-five seemed very old to me at sixteen. There was not any progress as far as I could see. It became clear to me by the time I was in my early twenties that there would be no one to help me. I was on my own. I clung to the idea that this was not actually the real me and this was not actually my real life. This could not be my real life because it was too awful.
I began to experiment, as many people enduring ME/CFS do. I began trying various supplements and persuading doctors to let me try harmless drugs, even if they were not indicated for ME/CFS, because there was nothing out there indicated for ME/CFS. I found many things that could get me through several months at a time and some things that helped in the long term, but not enough to give a good quality of life or help me function normally.
In my mid-thirties, after my autism diagnosis, I found something that gave me a good quality of life and helped permanently. It was high doses of the B vitamin biotin. My life before biotin was quite different from my life after biotin.
I had read about it as a new treatment for progressive multiple sclerosis. The severe fatigue and widespread pain of MS are very similar to that found in ME/CFS. This year at the 2018 Symposium for the Open Medicine Foundation, Ron Davis mentioned how alike the two illnesses are. In fact, he wonders if ME/CFS might be a biological state that shares a mechanism with and may sometimes precede MS.
Biotin, even in high doses, was found to be safe and well tolerated in these MS patients. So I started with 100mg twice daily, less than the 300mg used in trials for MS.
A week in, my irritability was gone. I was free of the constant need to suppress and hide my anger every waking moment. With biotin, I was quickly and permanently relieved of it. My anxiety, loud like a freight train in my head and inescapable, was halved. I came back into the world of people as though I could “hear” them for the first time. I had a sort of peace I had never experienced before. I was able to become a good wife and a good employee. I could make friends. I did not become neurotypical, but I am much more neurotypical than I was.
You might wonder what it is like to go from more autistic to much less autistic. It was like I had been staring at a wall my whole life, struggling to peer through it, and then suddenly I took a modest step to the side and looked out a window for the first time. I was still me, just a slightly different version, a version with peace and clarity. Prior to the biotin, I had no idea that the window was even there, within reach.
I also gained energy and had a big reduction in the malaise that plagued me. I felt much less sick. For decades, I woke up hopeful that the current day would be different from all the preceding days, and every day, shortly after waking, I felt increasing nausea, a headache, pain in my upper back, and a feeling that was like a combination of a nasty viral infection and being hit over the head with a shovel.
Researchers studying biotin for MS think it may affect brain function by increasing the capacity for neurons to make energy and by having a generally neuroprotective effect. Energy production is a known issue in ME/CFS and in autism. Biotin acts as a cofactor for processes that create ingredients for cellular energy production. Biotin also promotes the production of myelin, the nerve insulator in MS whose loss causes the characteristic neurological problems.
Research has shown that a biotin deficiency results in overall higher levels of inflammation, possibly by promoting the activity of one of the central inflammatory proteins in the body: NF-κB. Perhaps extra high levels of biotin suppress this protein.
A Greek study examining potential metabolic disorders in a sample of kids with autism found that twelve of them had signs of biotin deficiency. Biotin deficiency in the absence of a specific genetic mutation is extremely uncommon because biotin is recycled in the body by an enzyme called biotinidase. A biotinidase enzyme genetic mutation will typically lead to chronic biotin deficiency from an early age because of an inability to recycle biotin. Biotinidase deficiency has been associated with autism in case studies of individual children.
However, none of the children showed in the Greek study showed a deficiency in the biotinidase enzyme itself. The researchers did not know the cause of the apparent deficiency. Seven of these twelve children responded positively to a high dose of biotin. The amount researchers used was lower than the amount used in the MS studies. One child became completely free of autism and went back to school but relapsed when taken off biotin.
Ron Davis of the OMF foundation says that his son Whitney, who has a severe case of ME/CFS, has a rare sort of biotin deficiency.
I don’t know how many people with ME/CFS and/or autism would be positively affected by high dose biotin. I also don’t know if one of the other supplements and medications I was already taking allows biotin to work for me in the way that it does. But the difference in my quality of life is undeniable with biotin. Missing a dose brought back all of my symptoms in full force.
Biotin deficiency can result in seborrheic dermatitis, an oily, flaky, irritated skin condition. When I was a teenager, instead of developing acne, I developed seborrheic dermatitis on my face. I also developed a severe allergic reaction to nickel as a teenager that caused extreme eczema on the palms of my hands and soles of my feet. In an animal study from 2009, biotin deficiency promoted nickel allergy and biotin supplementation suppressed it.
Much seems to be unknown about biotin. Biotin is generally regarded as harmless by medicine and as a vitamin that promotes hair growth by the general public. We know basic things about its function, but is unclear, for example, how it might be possible that biotin could be used up at a rate faster than normal or if unknown factors could inhibit biotin recycling in the body, situations that would explain how children in the Greek study could have normal biotinidase, but with an apparent functional biotin deficiency.
ME/CFS patients who are familiar with Dr. Naviaux’s work are eagerly awaiting a suramin trial for ME/CFS and he is working towards organizing one. If suramin is successful and is approved by the U.S. Food and Drug Administration, it would be the very first FDA approved treatment for ME/CFS.
At least two other trials for new medical treatments for ME/CFS are in the works. Cortene is a drug being studied in the hopes it will down-regulate a physiologically hyperactive stress response found in ME/CFS.
Another planned study by Dr. Nancy Klimas who runs the Institute For Neuroimmune Medicine at Nova Southeastern University in Florida, will examine whether an anti-inflammatory drug called Enbrel and a stress hormone-blocking drug called mifepristone when given one right after the other will reset both the immune system and the stress system in patients at the same time. The advanced computer modeling at her center suggests this may be successful and may even result in a return to normal health without further treatment. The treatment has worked in an animal model of Gulf War Illness, an illness that overlaps symptomatically with ME/CFS.
I suspect that these treatments are also worth exploring for at least some types of autism.
Many people with autism object to thinking of themselves as having a disorder in need of treatment. With the growth of the Neurodiversity Movement in autism, a lot of people in the autism community are calling for a recognition that autism is part of a natural, normal variation in human brain wiring. They advocate that those who have autism should be treated with acceptance and respect and should not be pathologized.
Some of the motivation underpinning the movement is a reaction to therapies like Applied Behavioral Analysis (ABA) which attempts to incentivize the learning of language and social skills and aims to suppress autistic behaviors like hand flapping. ABA is the most common therapy for autism.
Some autistic adults treated with ABA as children criticize the therapy as misguided and sometimes abusive. One criticism of therapy is that it does not fundamentally render autistic people less autistic, but only trains them to act more neurotypical and has caused treatment recipients to feel more ashamed about being autistic.
Many autistic people are publicly taking pride in being autistic and in the gifts and the unique ways of thinking that often accompany autism. This is a good thing.
For me, recovery from autism has not meant that I have lost my gifts or unique ways of thinking. In fact, I have kept all of these but have greatly diminished the aspects of autism that made me miserable. I can now use the gifts that I do have more effectively.
Prior to a partial recovery, I could not have written a long article like this. I could intake information and find patterns in it, but it was much more difficult for me to “output” information in a written or verbal format so that I could have other people understand my ideas. It would have been such a struggle that I would probably not have attempted it.
For me, being free of autism and illness is just being free. It is the freedom and the peace I have wanted my entire life. I will continue to work for that until I am completely free.