This weekend marked Rare Diseases Day 2015, a name that belies the pain and courage of patients who suffer from many of these illnesses. While each of these rare diseases is uncommon, occurring in less than 200,000 people in the U.S., together they affect about 1 in 10 people.

Last year, I focused on two aspects of rare diseases, on chronic pain⁠ and on mitochondrial diseases⁠, through the story of two young women. I’ll update you on their stories and what I’ve learned from them, and others, this year, and how social media is helping them.

“Rose,” a lovely young woman I met several years ago, has generously shared her story. To begin, she had variety of vague symptoms “as long as she can remember,” including heat intolerance and dizziness. As a young teen, she developed severe orthostatic hypotension (POTS) and fainting (syncopal) episodes, then stroke-like episodes, and severe migraines. Her complications worsened, with inability to swallow and with bowel dysmotility, requiring multiple surgeries and, ultimately, intravenous feeding (hyperalimentation). Yet the diagnosis of POTS wasn’t made until she was 18, and mitochondrial disease was not the leading diagnostic consideration until she was 19.

I first met Rose when she developed a life-threatening sepsis from her IV feedings. She explained, “I’ve been denied medications that could improve my [GI] motility and aid me in staying off of TPN, which in turn would help prevent [life-threatening] central line infections/sepsis…Insurance is a constant battle. We’ve payed thousands out of pocket each year…I’ve been refused inpatient physical and occupational therapy multiple times, including kicked out of the program” for not meeting her insurer’s definition of “adequate progress.” Of course, lack of therapy has hastened her debility. As I noted before, I have at times wondered if her insurance carrier hoped to hasten her death in order to save money.

Patients with rare diseases often have to travel long distances to receive specialized care, making exhausting and expensive trips. Fortunately, Angel Flights and Ronald McDonald House provide many with help in these arenas.

A huge burden for patients with chronic pain and fatigue is being told that they are crazy. This, too, happened with Rose. In extreme cases, children are taken from their parents and institutionalized—Boston Children’s Hospital⁠came under fire for this last year⁠. Several parents I have spoken with have expressed fear that something similar would happen to their kids, because seeking multiple opinions to explain their child’s illness might be interpreted as “Munchausen-by-proxy” (having unnecessary medical procedures due to an underlying psychiatric problem) or medical child abuse.

Not having a diagnosis takes a huge emotional toll, as does the too-common psychiatric label. Rose recalled that the delays in diagnosis, “causes mental anguish, worry, and distrust. Every other mito, POTS, or chronic illness person I meet has had this happen. Every single one. And they all have some level of fear meeting a new doctor, opening up about their symptoms, and constantly worry it is going to happen again.”

Insurance refused to pay for many diagnostic tests for Rose, assuming the results would not likely change her therapy. I had her samples sent for genetic testing through a research center; after well over a year, we have heard nothing. Fortunately, she has a different insurer this year, and was finally able to have testing done, though her copay was thousands of dollars. Her relief at finally having a diagnosis–even though it is untreatable and will be fatal–is huge.

Rose had a recent fall and was unable to get herself up for some time, due to her profound weakness. Yet she wrote about that terrifying experience, “Wow, it’s such a large, validating, and surprising comfort to know why; that it’s caused by my orphan gene DES p.ILE451MET, my answer finally after more than a decade of searching. That I know exactly what’s going on, and the specific names from the gene!!!. That myofibrillar myopathy⁠ and scapuloperoneal neurogenic Kaeser type syndrome⁠, are the specific cause. I can’t tell you how unreal it is after all these years” after so many doctors did not believe her symptoms. And she spoke lovingly of her physicians who have believed her and persisted in trying to diagnose and treat symptoms from her rare genetic disease, caused by a mutation in the gene encoding desmin.

One of the most amazing things I’ve seen, through Rose, is her optimism and ability to cherish each moment with friends or time without pain. And as her physical abilities have markedly diminished, she has developed an expanding network of friends through social media, especially Facebook. They watch movies, share dreams, help fundraise for mitochondrial disease patients and, most importantly, support each other through the bad times.

SickChick's feet; discoloration is consistent with CRPS

SickChick’s feet; discoloration is consistent with CRPS

One of the other teens I’ve met through Rose is another remarkably upbeat girl who blogs as SickChick. She developed an abrupt onset of pain at age 11, along with discoloration in her foot. Diagnoses ranged from chronic regional pain syndrome (CRPS, or RSD) to “conversion disorder” (where symptoms are thought to have a psychological, rather than physical or medical cause). She, too, has been evaluated at hospitals throughout the country. Her parents’ “doctor shopping” panned out when, after multiple misdiagnoses, she was seen by Dr. Pradeep Chopra, a pediatric pain expert in Rhode Island, who found she had CRPS and Ehlers-Danlos syndrome, in addition to other problems. Chick, too, has an extensive on-line community, helpful when she is not well enough to do normal teenage girl things and to need support. She also blogs humorously about things no young one should have to—#prayforpoop, odes to her meds, bucket lists, and the difficulty of going to school conspicuously in a wheelchair. She recently shared this poem:

Different

We spend our whole lives trying to be different

Finding the quirks that set us apart, make us special

We’ve all been told, “Colleges look for people who stand out. Who are different.”

See different is a good thing

Until you are a man who loves another man

Or a woman who loves another woman

Or a person who just can’t decide who to love

Until you are a religious minority

Until you are the “weird kid”

Until you are the only one still obsessed with Harry Potter

Until you are judged for your tattoos, piercings, or hair dye

Until you have to look for a ramp

Or drag an oxygen tank around

Or deal with a PICC line, a port

Until you are in a wheel chair

Different is great, until you are

Different

Though not rare diseases per se, people who may be suffering from tick-borne diseases and chronic fatigue have found similar support in on-line communities. Through the Twittersphere, I’ve met many folks interested in tick-related diseases. One has been “TenaciousB,”⁠ who has taught me a lot about emerging tick related illnesses and their widening geographic spread. It has been wonderful to network with her and infectious disease experts on Twitter to discuss these.⁠ TenB’s daughter, like SickChick, went pretty abruptly from being an active, athletic teen to being seriously ill with pain, intermittent fevers, and neutropenia. Serologic tests were suggestive of various infections, and she received antibiotic treatment for possible Lyme. When she didn’t recover as expected, she was told she was depressed.

One of TenB's daughter's rashes

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One of TenB’s daughter’s rashes

It’s unclear what is wrong; clearly these rashes are not factitious. I’m suspecting an autoimmune etiology, common in young women, but it could take years to diagnose. TenB is tenacious; we have to become so in our advocacy for our children.

There is a lot of overlap in symptoms of “chronic fatigue” syndrome and the ongoing dispute over “chronic Lyme.” Autoimmune diseases share many vague and cyclical symptoms as well. All of these are notoriously difficult to diagnose—patients commonly see more than five doctors over a number of years before receiving any diagnosis. Sometimes it is the pattern of symptoms over time that helps clinch the diagnosis; this is, of course, no consolation to the patient in limbo. So many—25% of patients in one survey—turn to the internet⁠ for information and support.

As a physician, I always cringed when someone wanted to see me believing they had chronic EBV or Lyme. Little is more frustrating, knowing that you likely will have no answers, and that the patient will likely be unpleasant, lashing out in their own anger and frustration.

“Chronic Lyme” is not an entity I believe in, nor do I support the demands for months and months of IV ceftriaxone, which can cause hepatitis, bone marrow suppression, C. difficile colitis, or complications from the prolonged IV itself. I do see patients with persistent symptoms following Lyme, that we have not been able to diagnose. We urgently need better diagnostic tests for these and to detect other new tick-borne or emerging infections.

Perhaps the tide is changing a bit. Even Chronic fatigue⁠, aka “myalgic encephalomyelitis,” and now “systemic exertion intolerance disease,” has just achieved recognition from the prestigious Institute of Medicine⁠. Thesymptoms are still ill-defined⁠ and so nebulous as to include millions of people. Research in these poorly understood syndromes and autoimmune diseases need more funding—yet NIH’s funding has been cut.

Until we have diagnostic tools, as biomarkers, I try to practice as Dr. Chopra does, when he explains, “I don’t know what you have, but I’m going to find out… Whether you come up with an answer or not, a patient leaves the office thinking ‘I have someone smart who is there to care for me.’ That is what compassionate care is all about.”

In the meantime, I’m happy we all have more internet resources, such as disease specific support groups. Researchers are increasingly turning to these advocacy groups in their search for clinical trial participants. Perhaps most importantly, patients with rare diseases can find tips, companionship, and support from others.

Credits:

Thanks to Rose, SickChick, and TenB for generously sharing their stories and photos.

Resources-a sampling:

National Organization for Rare Disorders

NIH Office of Rare Diseases and their list of resources

Rare Connect

Global Genes

The Coalition Against Pediatric Pain – TCAPP

Mitochondrial diseases

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