Read more by Caroline Christian on her blog, “Frozen in Amber.”
“When you hear hoof beats, thinks horses, not zebras.” – Dr. Theodore Woodward, 1940
I am lucky in that I did not realize the fallibility of medicine until I reached the age of 38. This is when I was diagnosed with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), a devastating neuroimmune disease wrongly believed by many doctors to be a psychiatric condition.
Throughout the past decade of navigating this illness, I have witnessed rather appalling behavior from some doctors – conceit, arrogance, insecurity, and an utter lack of curiosity and compassion. I have developed a fairly thick skin, but was completely unprepared for the mistreatment that our sick adolescent son would face.
Two years ago, our then 10-year old son started to complain of a stomach ache that did not resolve. Other things seemed wrong, too. I did not want to be an alarmist and waited an appropriate amount of time before calling for an appointment, thinking there would be a simple solution. His pediatrician showed concern, asked questions, then described how anxiety can explain all of the symptoms our son was experiencing and scribbled down a few names of therapists in town who work with adolescents. I left wondering if there might be more to the story, but given that doctors know best, I took their advice and put our kid into therapy.
Except in our son’s case, it was a lot more than anxiety.
Like parent, like child
Having a poorly-understood disease like ME/CFS is not just a problem for adults, it is potentially a problem for their children. A study by Underhill and O’Gorman found that approximately 20% of ME/CFS patients had relatives with the illness, with 5% of offspring having the disease. Using genealogy data from Utah, Albright and colleagues found that first-degree relatives (i.e. parent, sibling, child) of existing ME/CFS patients had nearly three times the risk of getting the disease when compared to the general population. Both studies showed that the risk remains high for second- and third-degree relatives, suggesting there is genetic susceptibility with ME/CFS, and not just shared environmental exposure to toxins or pathogens.
The Open Medicine Foundation has recently funded research to explore hereditary components of ME/CFS and hopefully this work will better allow sick parents to assess their children’s risk. While no one wants to be told their children are ticking time bombs, most parents with ME/CFS would rather know the risks and would do everything in their power to prevent their children from becoming ill.
When parents with ME/CFS bring in a sick child they are likely to be dismissed simply because most pediatricians do not understand the disease, how it manifests in children, or that it runs in families. They may dismiss the illness as psychosomatic and discount what a parent says. When concerns are brushed off, diagnoses get delayed. According to the Centers for Disease Control and Prevention (CDC) parents should not wait more than three months to have their child assessed if their symptoms are consistent with ME/CFS.
Data on how long it takes to get diagnosed are sparse, but one survey by the Solve ME/CFS Initiative found that it takes on average four years for adults to get diagnosed. In a small study, Knight and colleagues found that the median time between symptom onset and diagnosis was about 18 months in children. Children have a better prognosis compared to adults, especially when the disease is caught early.
Knowing that a child is at greater risk for ME/CFS might also change how parents go about raising a child. Rather than being made to push through illness, they might give their children extra time to recover from colds and other viruses, work extra hard to ensure that they have good nutrition and sleep, and be more inclined to go to the pediatrician or emergency room if trouble is suspected.
It’s “just” anxiety
Since our son first started having symptoms two years ago, nearly every professional we encountered – school principle, pediatrician, and even family members – assumed it was anxiety. No further testing was done.
I have talked to countless families who describe a similar pattern of being dismissed and sent away with their sick child to find psychiatric help. One mother I spoke to recently took her extremely ill child to a well-known children’s hospital – he could not walk, had splitting headaches, blurry vision, fatigue, GI problems, and a host of other symptoms. A neurologist there said his symptoms were caused by anxiety and he was sent away to seek a therapist back in his home state. Months later it transpired that this child had a severe intracranial pressure. Even when presented with evidence, the hospital told his family that the spinal tap was likely a false positive (it was not). In another example, a five-year old girl was dismissed for three years before getting diagnosed with ME/CFS. Now, at the age of 11, she is severely ill and all but homebound.
At a minimum, a physician should conduct a differential diagnosis and rigorously evaluate alternative hypotheses to explain a patient’s symptoms if they do not resolve in a timely way. Why is it acceptable to not apply this level of rigor to a child when it would be standard in adults with the same symptoms? What leads adults to assume it is “just” anxiety and leave it there?
One reason, according to Dr. David Bell, a prominent pediatrician who specializes in treating ME/CFS in children, is that ME/CFS can easily be confused with school phobia. But unlike school phobia, children with ME/CFS are still ill and inactive on weekends, holidays, and during the summer. If a child is sick during non-school times, it suggests that it is more than anxiety and further investigations are needed.
A recent study from China surveyed over 18,000 middle- and high-school children and found that 0.9% met the criteria for ME/CFS. In addition to many symptoms listed in the CDC criteria, students reported a fear of going to school, despondency, and irritability. It would be easy to conclude that these children suffered from school phobia, but when viewed in light of the other symptoms, the more logical explanation is that children with ME/CFS are afraid of going to school because they know they are likely to feel unwell there.
It is important for parents with ME/CFS to realize that children may experience the illness very differently than adults. A different presentation in children might make it more challenging for parents to see the link between their illness and the one emerging in their child. A study by Leonard Jason and colleagues found that children were more likely to complain of abdominal pain and skin rashes than adult patients. GI complaints are very common with anxiety, which may be one reason why children with ME/CFS are misdiagnosed with generalized anxiety disorder so readily. Similarly, children with ME/CFS commonly have orthostatic intolerance, a co-morbid condition that can mimic panic attacks (e.g. racing heart, dizziness, sweating, GI discomfort). Interestingly, as with adults, the study by Jason and colleagues found no significant difference in anxiety scores between healthy controls and children with ME/CFS.
Mind the gap … in pediatric medicine
Finding pediatricians who specialize in ME/CFS is about as hard as finding a unicorn. The ones who do exist have long waiting lists, if they are accepting patients at all. The reality for most parents, especially those who do not live near major urban centers, is that access to specialized pediatric care is virtually non-existent. Many sub-specialties, such as pediatric rheumatology and immunology, are not well represented in many states, and few specialists for adults will see children. Travel for medical care is a financial hardship for many families and some kids are too sick to travel. This means that children often are hung out to dry. With one in four children suffering from chronic illness, and this problem only predicted to worsen, the situation will hopefully change soon.
Even if there were more pediatric specialists in immunology and rheumatology, there is a good chance that a referral to one would not be terribly helpful. Although these areas of medicine could bring many tools to bear on this illness, most doctors lack the training to see how their specialty intersects with ME/CFS. Worse yet, we are still dealing with the decades-long legacy of the CDC and the National Health Service (NHS) in the UK representing ME/CFS as a psychiatric disorder to the medical community. I have spoken to countless families who have thrown substantial resources at traveling to see specialists, only to be told – once again – that it was all in their child’s head. Screening prospective specialists in advance is key for this reason.
We need more pediatric specialists who understand complex chronic illness and who can tease apart various conditions that overlap with ME/CFS, such as connective tissue disorders, including Ehlers-Danlos syndrome, cranial/cervical abnormalities, Lyme disease, PANS/PANDAS and other autoimmune conditions. Many children’s hospitals – a likely place chronically-ill children will end up – are missing some of the expertise needed to distinguish among these conditions (see Box 1).
Adding to the access problem, most of the ME/CFS specialists who treat adults do not see children because they lack training in pediatric medicine. When I realized something was seriously wrong with our son I started calling around to various doctors – including some of my own – and none of them (except for one neurologist, who also had a sick child) agreed to see our son. I have since found a private doctor in the Bay Area of California who was reluctant to see him. We are fortunate that we can afford private medicine at this point, but most families, especially those financially hobbled by having an ill parent, would not be able to afford the cost of travel, testing, and office visits. Adequate pediatric care should be a right that all children have, not one that depends on how well-connected or wealthy their parents are.
Along the path to diagnosis, parents of sick children must be very cautious to avoid being labeled with Munchhausen-by-proxy syndrome, a mental health problem in which a parent makes up or causes an illness or injury in their child. The ME/CFS community has seen far too many cases of children being ripped away from families who have been accused of “harming” their children. The story of Karina Hansen, a child from Denmark with ME/CFS portrayed in the film, Unrest, struck fear into many parents who have children with ME/CFS. This happens when a serious organic disease is treated as a psychiatric disorder. I play my cards very carefully by being a compliant parent, following through with all recommendations, while also knowing when (and when not) to push.
We are fortunate to finally have a team of physicians who are helping us get closer to the ultimate truth of what is driving our son’s illness. We are working our way through an extensive differential diagnosis, leaving no stone unturned. We are still waiting on several test results and more referrals, but the information we have so far paints a picture of a highly-impaired immune system, a dysfunctional autonomic nervous system, and connective tissue disease (hypermobile Ehlers-Danlos syndrome). His new specialist said that his symptoms are in keeping with ME/CFS, but we are waiting to see how all of the pieces fit together. Families with ME/CFS also report various forms of autoimmunity, such as rheumatoid arthritis, Lupus, and Sjogren’s disease, in other family members. This is certainly the case for my family so we are waiting until all of the evidence is in before assigning more labels.
Validation as the first step to healing
When children cannot trust adults, they become disconnected. When they become disconnected, they become depressed and anxious. When a trusted adult doubts a child, it serves to isolate them further because it narrows their circle even more. The message they receive is, “No one believes me. No one is on my side.”
Having a chronic illness is one of the most isolating experiences as an adult, but it is far worse for a child. Missing a lot of school, having to rest in the nurse’s office every day, and going to a lot of doctor’s appointments singles out a child. Bullying of sick and disabled children is rampant in schools, especially when there is doubt about whether the illness is real in the first place.
Ambiguity about a diagnosis only amplifies the anxiety a child feels. There is the gnawing worry about what “it” is. Children lack context for their ailments and are prone to thinking that a new symptom spells eventual, if not immediate, doom. My experience is that our son found it validating to be diagnosed. Understanding the source of his symptoms has helped to ease his anxiety.
Validation signals to children that they have trusted adults in their life who believe and understand them. There is nothing normal about having a complex chronic illness as an adolescent and attempts to normalize the experience will likely cause a breach in trust. When adults say, “Oh, everyone gets tired. I feel that way, too, after a long day,” is not helpful to a chronically-ill person, child or otherwise. Family members can show support by listening carefully and following the child’s lead.
The next part of our journey involves online schooling. Our son’s condition has deteriorated to the point where he can no longer attend school in a consistent way. The thought of me teaching a child at home is daunting at best because I am moderate-to-severe on the ME/CFS spectrum. Yet I know this is what our son needs right now. The hope is that by removing stressors and getting further treatment he will be able to step back into his life.
I don’t fault doctors who do not understand complex and poorly understood conditions like ME/CFS because it is largely missing from medical school curricula. On the other hand, being dismissive of sick parents and their children is inexcusable. With a lot of hard work, we were finally able to find doctors who are willing to take us seriously. One silver lining of my illness is that I was able to better advocate for our son and get him the doctors he needed within six months of his condition worsening. Most parents have to wait years, assuming they ever find help.
Given that kids stand a decent chance of recovering from ME/CFS, especially if caught early, it would only stand to reason that medicine would do all it could to prevent a lifetime of disability and misery in a young person.
Sadly, our son only made it to the age of 12 before he realized the fallibility of medicine. This is when he heard from doctors, “It’s all in your head.” This is what a child hears when a devastating neuroimmune condition is equated with anxiety.
Sometimes those hoof beats you hear are not horses, but are, in fact, zebras. I am grateful we found some doctors who know how to spot them.
In August, we shared with you that we and six other ME/CFS organizations had submitted a proposal to the National Center of Health Statistics (NCHS) to fix the coding of ME/CFS in the US International Classification of Diseases (ICD-10-CM). Today, we are writing with an update on that proposal and asking that you sign the