“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 neuro-immune disease wrongly believed by many doctors to be a psychiatric condition.
Throughout the past decade of navigating this illness, I have witnessed some rather appalling behavior from 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, once again thinking that 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 mother, like child
Having a poorly-understood disease like ME/CFS is not just a problem for me, it is potentially a problem for our son because the condition runs in families and he may have it. A study by Underhill and O’Gorman (2011) found that ~25% of ME/CFS patients had one or more children with the illness. Using genealogy data from Utah, Albright et al. 2011 found that first-degree relatives 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 this is more than just shared environmental exposure to toxins or pathogens, but also a disease with a hereditary basis.
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, I think that 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, and that it runs in families. When concerns are brushed off, diagnoses get delayed. According to the CDC, parents should not wait more than three months to have their child assessed if they have symptoms like our son experiences.
Data on how long it takes to get diagnosed are sparse, but one survey by Solve ME/CFS found that it takes on average four years for adults to be diagnosed. In a small study (100 patients), Knight et al. 2013 found the median time between symptom onset and diagnosis to be about 18 months in children. Recent research shows that the longer a patient is sick with undiagnosed ME/CFS, the less likely recovery is. Early diagnosis is essential with this disease because recovery becomes vanishingly small beyond a certain point.
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
Our son first started having symptoms two years ago while in the fourth grade. It started with stomach pain and intestinal cramping, which made it difficult for him while away from home. He became agoraphobic and did not want to go to school or participate in his favorite sports. He became reclusive and eventually refused to spend time at his best friend’s house out of fear of experiencing discomfort when away. This soon developed into more phobias and every professional we encountered – school principle, pediatrician, and family members – assumed it was anxiety, without doing any further testing.
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 on 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.
Our son’s condition began to worsen, after a largely symptom-free year, when we moved this past summer. Shortly after arriving in our new town, he started experiencing what seemed like panic attacks – nausea, pallor, racing heart, and fatigue. He struggled to go to school and spent hours each day in the nurse’s office. He missed about a third of the school days this fall and on days when he was able to make it in he was often too unwell to be in the classroom. He was also resistant to go to soccer practice and eventually refused to play. It would be easy to conclude that this was just anxiety, owing to the move and a difficult transition.
Except that his symptoms don’t always track with anxious situations. Some days he’s ok with going to school, other days he is not. Sometimes his symptoms appear on weekends, in the evenings, and while doing activities that he loves. This suggested to me that something other than anxiety was afflicting our son.
Fighting for the correct diagnosis
A mother knows when something is wrong with her child. I have become very good at reading our son’s symptoms and know the signs of immune activation based on my own illness – intermittent fevers, flu-like aches, malaise, swollen glands, and mouth ulcers. These symptoms cannot all be chalked up to anxiety. Yet the urgency to understand medical complaints like these falls away when doctors believe a condition is psychosomatic.
Pediatricians who specialize in complex chronic illnesses are rarer than unicorns. The ones who do exist have long waiting lists, if they are accepting patients at all. The reality for most people, 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 kids often are hung out to dry. With 1 in 4 children suffering from chronic illness, and this problem only predicted to worsen, the situation had better change soon.
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. 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.
This left us with a tough decision. Do we start our journey to a diagnosis with a ME/CFS work-up or something else entirely? I decided not to push for a ME/CFS evaluation because I knew that we would not be taken seriously and because of how upsetting this would be for our son, who has seen the horrors of this disease in me first hand. The last thing I want to do is make our son’s situation worse by making him worry, but at some point we will have to explore this diagnosis as well.
In addition to ME/CFS, I have a genetic condition called hypermobile Ehlers-Danlos Syndrome (hEDS), which is a connective-tissue disease that carries a 50% chance of being passed on to offspring. EDS overlaps considerably with ME/CFS and could easily explain most of our son’s symptoms. Considering EDS has a genetic basis, and that I have it, I figured we would have more luck getting help for a condition that is recognized by doctors. However, EDS is routinely missed. I was not diagnosed until age 49 despite symptoms being in plain sight.
Our son’s new pediatrician was very supportive of us pursuing an EDS evaluation and referred us to Stanford’s Lucille Packard Children’s Hospital. I figured that because I am a patient at Stanford, and Stanford is a center of excellence for ME/CFS treatment, we would be in good hands. After weeks going by without a call, I phoned to inquire. They informed me that the referral had been cancelled because there isn’t much that can be done for hEDS, which could not be further from the truth. I never received a call to inform me of this. When I made a fuss, I was promised a call back, but one never came. I was shocked and saddened to think of how many other vulnerable children and parents were out there desperate to find an answer.
Luckily my Stanford neurologist suggested that we take our son to UC Davis, where they have a geneticist who specializes in assessing pediatric patients for hEDS. We were not able to see the recommended doctor but saw another who said that our son did not have EDS, despite me having it and him being hypermobile and having many of the symptoms. We were told to come back in six months and we all left feeling gutted because we were back to square one.
We were desperate for help and decided to take our son to a psychotherapist, along with the family therapist, to treat his anxiety, regardless of its cause. We also asked for a referral to a gastroenterologist, hoping we might be able to get some help for his GI symptoms, but also knowing there was more to the story.
The therapy and antidepressants helped with our son’s outlook somewhat, but he continued to get sicker and started missing even more school.
Finally, a break
We finally got our break last month when I saw a new neurologist at Stanford. This doctor specializes in spinal leaks and was very concerned about our son because of my hEDS diagnosis. He knows that hEDS is a heritable condition and talked about how different conditions associated with hEDS, such as spinal leaks, can cause the types of symptoms our son has. He encouraged me to asses him for orthostatic intolerance (symptoms that develop upon standing and which resolve when reclining or lying down). I left wishing he could be my son’s doctor.
Using a wrist-watch heart rate monitor, I had a partial answer within a few moments: our son has raging postural tachycardia syndrome (POTS), a form of dysautonomia common in people with EDS and ME/CFS. Upon standing, his heart rate goes from approximately 65 beats per minute (bpm) to 130-140 bpm. The definition for POTS in children is a rise of 40 bpm or more upon standing.
We were so relieved to finally have a lead, but I was very saddened when family members worried that I was making things worse by causing distress in our son. They were quick to point out that I am not a doctor and should not diagnose our son. They did not give me the benefit of the doubt, did not ask me any questions, and made little effort to understand the situation. I felt comfortable “diagnosing” POTS because the definition is straightforward.
I would never go out on a limb and make a diagnosis for our son. Unlike POTS and EDS, ME/CFS is very difficult to diagnose and requires a very thorough differential diagnosis to rule out other conditions because it is fundamentally a diagnosis of exclusion. I would never dream of diagnosing anyone as I am not a medical doctor, but I do have a Ph.D. in biology. I know a lot about my conditions and this understanding helped to get our son diagnosed more quickly. The average time to diagnosis for POTS is about six years. I was able to narrow that timeline to five months on account of my understanding and tenacity.
After this revelation, we saw a new EDS doctor who confirmed that our son has hEDS and POTS. She referred us to a pediatric cardiologist, who by some stroke of luck, also has hEDS. He explained to our son that diagnoses can cause people to focus too much on being ill and prevent them from pursuing opportunities to manage the disease and live life as fully as possible. He advised our son to leap back into life, full steam ahead, and that he saw no risks in doing so. All welcome advice to a parent, unless your child is too unwell or has ME/CFS.
The specter of ME/CFS
Having a diagnosis is a huge relief, but the fact remains that our son is still quite ill. Our son’s symptoms are often debilitating and the more he pushes, the sicker he seems to get. Exercise is one of the most important tools for managing hEDS, but in ME/CFS, energy metabolism is impaired and exercise causes people to get sicker over time. Being able to tease the two conditions apart is critical for this reason.
Invisible illnesses like EDS, POTS, and ME/CFS are extremely deceiving and our son is very stoic and works hard to hide his struggles so he can fit in better. This means that people think he is more capable than he is and assume that anxiety is the primary reason for missing school. While anxiety is certainly a significant component of his condition, his physical symptoms from EDS and POTS cannot be denied.
We remain hopeful that his new treatment protocol will help our son get to a vastly better place in the coming months. He also is being assessed for gut motility issues – another form of dysautonomia that is common in people with EDS and ME/CFS – and hopefully these investigations will lead to additional treatments that will benefit him.
Of course one question weighs heavily on my mind: Does our son also have ME/CFS like I do? He frequently experiences immune abnormalities familiar to me, including swollen nodes, intermittent low-grade fevers, and widespread flu-like malaise and pain. I am less certain about the hallmark symptom of ME/CFS, called post-exertional malaise (PEM), which is a worsening of symptoms upon exertion, whether it be physical, mental, or emotional. There is often a one to two-day delay with PEM, making it hard to correlate activity levels with symptoms. Confusing matters more is the “payback” period that people experience with dysautonomia. This makes it hard to know if our son is experiencing payback vs. PEM.
I am on the waiting list to see one of the world’s leading ME/CFS specialists and am hopeful that he will see our son if I am accepted to his private practice, but this could take a year or two. I am hopeful that because our son has not been ill for long, there is chance for substantial recovery. Dr. David Bell said, “It is a tragedy that many of the severe sequelae of this disease can be avoided by appropriate diagnosis, activity monitoring, and education.” If it is taking too long for us to be seen, we will seek out a private practice in the Bay Area of California. This can be very expensive and often such clinics will diagnose ME/CFS or Lyme, based on little evidence. We may have no choice.
Where does a children turn when they have no trusted adults?
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 in my camp.”
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 has singled out our son and he has been ostracized by his peers. Arriving at a new school with health problems certainly does not lend itself to making friends.
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. Family members were upset with me for talking with our son about the possibility of EDS and POTS. My experience is that he found this validating and understanding the source of his symptoms has helped to ease his anxiety.
The next part of our journey involves homeschooling. His condition has deteriorated to the point where he can no longer attend school in a consistent way. The thought of me homeschooling a child 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 removing stressors and getting further treatment will enable him to step back into his life a little more.
I don’t fault doctors who do not understand ME/CFS, EDS, and POTS because these conditions are largely missing from most 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.
Given that kids stand a decent chance of recovering from POTS and 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 you tell them their debilitating symptoms are caused by anxiety only.
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.
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