Have pain? Are you crazy?

Since writing about Justina and Rose, I’ve spoken with “Sick Chick,” a teen with chronic pain that was also misdiagnosed for some time. At age 11, Chick developed severe, incapacitating knee pain abruptly, without a prior injury, which is a common precipitant. Then she developed patchy loss of sensation. Her foot turned blue and cold. She saw multiple doctors trying to find out what was wrong, including a pediatrician who said “it didn’t make sense so it must be in her head.” When asked how she could make her feet different temperatures and colors, he replied “There are Swamis in India who can do that.” After being diagnosed by multiple doctors with Complex Regional Pain Syndrome (CRPS), she saw a neurologist, who immediately said she didn’t have CRPS and, in only a 30 minute appointment, diagnosed her with a conversion disorder (where symptoms are thought to have a psychological, rather than physical or medical cause). Chick says, “It made me very scared that it could be” this, “but I knew this was real and I wasn’t imagining the pain…Now I’m really angry [about that].”

Since then, Chick has traveled cross-country for care. She went to one inpatient rehabilitation unit where she says the therapist initially took her crutches, threw them across the room, and told her to go get them. Surprisingly, she seems less angry with them than I might have expected, as the intensive physical therapy did result in her regaining her ability to walk. The following year, the RSD spread to her other knee, and she was hospitalized again at a different rehab center. By this point, she had also developed symptoms of postural orthostatic dizziness and tachycardia (POTS, or Postural Orthostatic Tachycardia Syndrome) and dysautonomia (a malfunction of the autonomic nervous system that can cause unstable pulse and blood pressure, leading to fainting spells and GI symptoms, among other). ). These symptoms were explained away as anxiety and the possibility of conversion disorder was again raised, rather than their looking for a medical explanation…

Instead, Chick finally kissed the right frog, and found her prince—a caring, observant physician, who made the correct diagnoses, finding that she has Ehlers-Danlos syndrome (EDS), historically viewed as a connective tissue disease causing extremely hypermobile joints, but now known to be far more complex. She is now getting appropriate therapy for her CRPS, EDS, and other associated syndromes…

Hearing these and other similar stories, I studied these syndromes further. I first turned, as I frequently do, to UpToDate, an on-line subscription resource. The chapter on pediatric CRPS is written by Dr. David Sherry, a professor of pediatrics at University of Pennsylvania. Dr. Sherry has recategorized Complex regional pain syndrome (CRPS) as an “amplified musculoskeletal pain syndrome (AMPS).” He states that CRPS “is characterized by extreme pain in a limb out of proportion to the history and physical findings⁠, accompanied by one or more signs of autonomic dysfunction.” He adds that conversion symptoms are “not uncommon.” Yet CRPS is characterized by severe pain, induced by normally non-noxious stimuli (allodynia), edema, cyanosis (bluish purple discoloration typically seen with poor circulation), and excessive sweating. Skin and nail changes are common. In adults, CRPS frequently follows injuries such as fractures (1-2%), especially in women; precipitating injuries are less common in kids. CRPS is one of the few pain conditions that can be diagnosed with objective signs (temperature asymmetry, color asymmetry, abnormal hair and nail changes).

Sherry recommends intensive physical therapy for hours daily without offering these children any pain relief. “The treatment starts at the first visit with confirming the diagnosis, discontinuing further medical evaluations⁠, stopping medications for pain (these 2 steps are sometimes much harder on the doctor than the child)…It is important that the team is confident in its ability to cure these children, tolerate the child's pain, be genuinely interested in these children, and understand each other's roles and positions because both the child and parents are prone to try to split the team by playing one member off another.” When asked about not providing pain meds, Sherry responded, "There is no good data that medications work. The most recent Cochrane analysis do not support the use of medications...Most children do not do well with medications, have a lot of side effects and they are expensive."…

Sherry lists conversion symptoms his clinic commonly sees⁠, including in them involuntary muscle spasms and “Fainting and lightheadedness, often called postural orthostatic tachycardia syndrome (POTS) or dysautonomia.” He says “Up to 40 percent of children with AMPS will have at least one conversion symptom.”   Sherry adds, “The vast majority of these symptoms need to be ignored since calling attention to them tends to make them worse.” Of note, POTS and dysautonomia are well recognized medical conditions that can be objectively tested (e.g., Tilt Table Test, orthostatic vital signs). These conditions are often treated by cardiologists and neurologists.

Not all physicians believe in the psychiatric explanation for CRPS or pediatric pain commonly being due to conversion disorder. There is a non-profit organization I have become familiar with called The Coalition Against Pediatric Pain (TCAAP). They have a number of videos on their site (and YouTube) from an interdisciplinary conference last year focusing on Ehlers-Danlos syndrome. While this used to be viewed primarily as a problem of loose joints, EDS now has many overlaps with CRPS, as well as associated with neuropathies, POTS, and migraine. Dr. Pradeep Chopra, a Harvard trained pain specialist and Assistant Professor at Brown University's Medical School, and head of TCAPP’s medical advisory board, told me that there is a “huge component” of autoimmune diseases and that the “joint problem is the least of the issues” in EDS. Many of the children he sees with Ehlers-Danlos present with CRPS. Most notably, he observed, “I’ve never seen a child with conversion disorder.”

Similarly, Dr. Richard Barnum, a child and adolescent forensic psychiatrist formerly with U. Mass and Harvard Medical Schools, spoke at the TCAAP Think Tank. He, too, believes that conversion disorder, if it does exist, is very uncommon. He noted there that patients experience a “diagnosis” of conversion disorder as an accusation of dishonesty, and that it leaves the real problem untreated. Further, such labeling doesn’t ever lead to effective treatment and is very destructive, driving kids away from seeking further medical or psychiatric care.

I am troubled by other aspects of Dr. Sherry’s “boot camp” approach to treating children, particularly in not allowing children to receive any pain meds despite hours of intensive physical therapy. As a parent and occasional patient, myself, I find such an approach unconscionable…

As a physician, I understand the frustration of dealing with patients with chronic, unexplained symptoms. They are often angry and unpleasant, not without some justification. I know we don’t have answers for many symptoms. I have no problem admitting my lack of knowledge to patients, looking things up, or referring them elsewhere. Sometimes you know that a diagnosis will likely become clearer over time, like multiple sclerosis or many autoimmune illnesses, and you can explain that. Other times, making a diagnosis is very much like the story of the Elephant and the Blind Men. You see things or look for things with which you are the most familiar or feel are most probable. We have a limited fund of knowledge, and often too little time or opportunity to discuss difficult-to-diagnose symptoms with our colleagues. Often, we have no one to consult with.

And as a person who herself gets weird illnesses and the parent of a child who does the same, I share the frustrations my patients. Sometimes you have to persist in seeking other opinions—a search that is expensive and exhausting, financially and emotionally. It is discouraging. But, as I remind myself and my patients, some times you have to kiss a lot of frogs until you find the prince. Just like Sick Chick did.

http://blogs.scientificamerican.com/molecules-to-medicine/have-pain-are-you-crazy-rare-diseases-pt-2/