I know it’s been a while since I last posted, and I apologize for my absence. As many of you know, it’s often difficult for me to keep any sort of reliable schedule with my various diseases and disorders.
I’ve been calling myself a “professional patient” for a while now, and for at least the last few years, I’ve made light-hearted jokes to loved ones that I’m a collector of rare diseases and disorders. I’d often add that I was going for the Guinness World Record for the largest number of co-existing rare diseases and disorders within a single human body.
All joking aside, since becoming disabled, it’s seemed as if every new diagnosis I receive can be found in the NIH’s Genetic and Rare Diseases Information Center’s (GARD) online database.
And yet, it wasn’t until this year that I even wondered whether there was a rare disease community out there (and if there was, whether there was a way to advocate for the community’s needs).
Once I started looking into it, I realized that a lot of my struggles with medical professionals and the American healthcare system were common struggles for those with rare diseases and disorders.
Here’s a small sample of the struggles I’ve personally experienced in terms of my rare diseases and disorders:
- Tethered Cord Syndrome
I first contracted tethered cord syndrome (TCS), a rare neurological condition in which part of a benign tumor I was born with wrapped around my lumbar spine and pulled tightly against it, when I was four years old.
Prior to my diagnosis in the winter of 1988, a local pediatric neurosurgeon had told my parents not to worry much about the tumor – that as long as it wasn’t causing me problems, it was merely a cosmetic issue, and that if I wanted to wear a bikini in public once I became a teenager, he could remove it at that point.
Thankfully, my parents ignored the callous doctor’s advice and sought out a more discerning neurosurgeon. Doctors at Boston Children’s Hospital monitored the tumor closely, and by doing so, were able to diagnose me right away with TCS and immediately thereafter perform neurosurgery to save me from becoming paralyzed.
- TCS, Part Deux (a.k.a., Recurring Tethered Cord Syndrome)
Other than feeling low back pain when I exercised and self-conscious when I wore certain clothing, the tumor didn’t interfere with my life for the next twenty-eight years. Even with Spina Bifida Occulta and some missing lamina from the surgery, I was able to compete nationally and internationally in two throwing events in track and field, and could weightlift hundreds of pounds, over and over again, without a (major) problem.
And then the tumor remnant regrew. And re-tethered. And I started feeling extreme back pain, including the sensation of electric shocks to the base of my spine.
I saw surgeons and neurologists and pain specialists, and I told each one about my tumor remnant, told them all about my fear it had regrown.
Each medical professional had a different diagnostic test, a different diagnosis, and a different treatment protocol – I underwent X-rays, MRIs, and CT scans, steroid injections, radiofrequency nerve ablations, spinal cord stimulator trials, opioid and non-opioid drug treatments, and more. I was told “it’s nothing” to “it’s something relatively benign, but untreatable,” to “it’s something serious and degenerative, but still untreatable,” to “it’s all in your head because you’re probably ‘too stressed’.”
None of them believed my tumor remnant had regrown or was in any way responsible for the debilitating pain, leg weakness, myoclonic jerks throughout my body, bowel, bladder, or sexual disorders I’d developed since my back pain first started. One told me they were all caused by independent disorders (and yet, couldn’t identify what those disorders were).
I went to experts in their relative fields, including a neurosurgeon at an elite facility (who I’d been referred to by my original neurosurgeon). And none of them thought to order the proper MRI that could determine whether my tumor remnant had, in fact, regrown.
Once that test was performed, it was clear to see the tumor had regrown and was once again pulling against my spine. Thankfully, I’d stumbled upon a neurosurgeon who’d become an expert in TCS. I had my second neurosurgery thirty years (to the month) from my first.
I was lucky to escape paralysis for a second time, but I probably wouldn’t have been, had I accepted any of the previous (mis)diagnoses I’d received. And unfortunately, all those neurological deficits I’d accumulated during that period of misdiagnosis are now irreversible.
- Idiopathic Hypersomnia (IH)
As I developed recurring TCS, I started noticing how fatigued I was. I was waking up exhausted every day, having trouble staying awake during the day, falling asleep for hours every day, never feeling refreshed, and sometimes experiencing what I would call a fugue state (it’s actually called “sleep drunkenness”), when I would sleep 20-22 hours straight, feeling pulled back into sleep every time I tried to wake up.
During my naps as well as regular sleep, I was falling asleep within minutes. I was also experiencing severe night sweats, night terrors, and the feeling of sleep paralysis on many occasions; I was experiencing hot and cold flashes during the day, almost always feeling faint, and feeling as if I was going to pass out when I’d stand up.
It felt like my brain was short-circuiting, like it was frying up and about to combust. I craved sleep constantly, and yet sleeping became a stressful, almost traumatic experience for me.
I went to a sleep specialist and underwent two overnight sleep studies and a daytime study involving consecutive naps interspersed with forty-to-fifty minutes awake.
My doctor explained that IH is essentially narcolepsy, except when I fall asleep during the day, I’m not falling into REM. And even when I am going into REM cycles at night, the REM sleep behavior disorder causes me to “physically act out vivid, often unpleasant dreams with vocal sounds and sudden, often violent arm and leg movements” during REM sleep, a period of sleep in which you’re not supposed to be moving at all.
I was thankful to have an explanation for some of these symptoms, but wondered what could be done to fix them.
Sadly, the medical community has yet to identify the cause(s) of IH, and there’s little clinical research out there regarding therapeutic treatments for it. In fact, at this time, there are no FDA-approved treatments for the disorder.
The only thing my sleep specialist could do was prescribe the off-label use of a narcolepsy drug (which has been relatively ineffective for me to date). When she tried adding a second drug to the regimen, my insurance company refused to pay for it, claiming there was insufficient clinical research done on its use to treat IH.
- Cardiac Autonomic Neuropathy (CAN)
At the same time as I was experiencing my sleep disorder symptoms (and living with the various neurological deficits I’d collected while my tumor regrew and re-tethered), I was experiencing digestion problems, wasn’t able to identify when my blood sugar was low, was experiencing bouts of extreme sweating and an accelerated heart rate (I’m taking 5-10 hours a day of a heart rate between 90-140 BPM), was dizzy all the time (even passing out once), and had the previously-mentioned urinary and sexual dysfunction.
I told my doctors about these symptoms, but several wrote them off as either insignificant or being caused by either the recurring TCS or one of the various meds I was taking. I saw a cardiologist, wore a heart monitor for a few weeks, and while I was found to have periods of tachycardia, was told my heart was fine.
The symptoms continued for years until a neurologist administered a new round of nerve testing. I already had a diagnosis of peripheral neuropathy in all four limbs, but the doctor was checking to see if anything more severe was going on.
Even then, the diagnosis of cardiac autonomic neuropathy of the vagus nerve to my heart was essentially a footnote in the test results and never addressed by my doctor. Had he mentioned this diagnosis to me, I’d have known that the vagus nerve controls one’s heart rate, the contraction of gastrointestinal muscles, sweating, and gag reflex.
It wasn’t until I saw a second cardiologist before I learned I had this disorder, which again, was at least helpful in explaining why I was experiencing low blood pressure, increased heart rates, digestion problems, bouts of extreme (and random) sweating, and even choking on my coffee.
Unfortunately, there’s really no known way to treat this disorder – you can just try and treat the symptoms.
That’s why, when I found the Hypersomnia Foundation, the National Organization for Rare Disorders (NORD), and the EveryLife Foundation for Rare Diseases’ Rare Disease Legislative Advocates (RDLA) program, I knew I wanted to get involved. And thankfully for me, I was in time to participate in this year’s #RAREacrossAmerica events.
Every year, RDLA organizes a RARE Rally, a week in which rare disease patients, caregivers, and advocates can attend the NIH’s and FDA’s Rare Disease Days and participate in meetings with the advocates’ representatives in Congress regarding pressing issues concerning the rare disease community.
We’re halfway through this year’s RARE Rally week, and today my fellow advocates and I met with staff members from the offices of Senators Reed and Whitehouse. During our virtual meetings, we were able to share a bit of our personal stories with rare diseases and disorders and explain why there needs to be additional funding assigned to perform clinical research on the 7,000+ known rare diseases and disorders, assistance in assigning diagnostic codes to the thousands of rare diseases and disorders currently without one, efforts made to identify and approve of therapeutic treatment for them, and newborn screening for rare diseases and disorders nationwide.
Our conditions might be rare in occurrence, but they’re in no less need of attention, care, or treatment than the more common diseases and disorders out there.
Sadly, because many in the medical community are often uneducated about our various conditions, our presented symptoms are either dismissed outright or attributed to a bogus diagnosis. When we are properly diagnosed, we’re often told our conditions are untreatable; when treatment does exist, it’s either not covered by insurance or prohibitively expensive.
In my case, the misdiagnoses and delayed treatment I received for my various conditions forced me to give up my legal career and medically retire at thirty-three years old. I’m now required to re-prove my disability each year, an experience I’ve found to be humiliating, demoralizing, and outright exhausting. If only the reviewers could understand how badly I wish I could return to practicing law instead of being laid up in bed or attending physical therapy to re-learn how to pass a bowel movement.
Unfortunately, until these rare diseases and disorders are researched more thoroughly, properly tested for effective and safe therapeutic treatments, and covered/better covered by insurance, I’m afraid my experiences won’t be rare at all within the rare disease community.
That’s why I’ll continue to participate in rare disease advocacy for the foreseeable future, until real progress is made. Or until my next nap 😛
I hope you’ll consider joining the cause or donating to one of these amazing organizations. We can use all the help we can get!
All my best,