The story of Adelle
As is my custom on Rare Disease Day, here is my story:
Today is Rare Disease Awareness Day. My rare disease is idiopathic Transverse Myelitis. In order to be rare, a disease must impact fewer than 1 in 2,000 Americans. TM occurs in 1 in 400,000. Lucky me.
In 2007, I was attending my cousin Andrew and Amanda’s wedding in Michigan, and I noticed that despite dancing all night, my feet weren’t in any pain. In fact, I couldn’t feel them at all. I remarked casually about that at the wedding to my stepmother and figured I’d just had too much to drink. The next day, I was numb to my waist. I sat down and realized I couldn’t feel the sensation/pressure of sitting. But I still thought, “Eh, probably a pinched nerve. It’ll go away.”
I flew home that night back to Virginia and the next morning, Monday, I realized I was struggling to walk and I had no sensation up to my chest. My legs were not coordinated, muscles were locking, and my balance was poor. My significant other had already left for work. So, being the sensible, independent person (idiot) that I am, I got in my SUV and drove to the ER. It was 2 miles away, but it’s really hard to brake when you have no sensation in your feet and legs. Thankfully, I made it safely and didn’t kill anyone in the process.
I hobbled into the ER after leaving my car with valet, and said, “I can’t feel my body from my chest down.” FYI, if you ever want to skip a wait at the ER, those magic words had me whisked away and admitted in no time. I had to loudly protest being intubated. They thought I’d had a major stroke at first, and put me into a wing of all non-mobile, mostly elderly and unconscious stroke patients.
Over the next several days, numerous neurologists and infectious disease specialists debated my diagnosis. I was tested for West Nile, Dengue Fever, HIV, Lyme Disease, Epstein-Barr, and a whole host of other things a person in North America rarely gets. I had a lumbar puncture, several MRIs, and lots of blood drawn. And still no feeling in my body to my shoulders. I also began to experience an unrelenting tightness in my abdomen and chest, as if I were being squeezed and my muscles were fully engaged. I felt very sharp needle-like pokes on an ongoing basis, like the worst pins and needles of an asleep foot, but never ending and this pain lasted for several weeks. It was a frightening time.
After several days, and an incorrect diagnosis of Guillain-Barre, my neurologist diagnosed me with MS. He was not very pleasant or very hopeful for my future. He discussed permanence of these symptoms and lifestyle changes that would be needed, things like adult diapers and that having kids probably wouldn’t be a good idea. He put me on an antidepressant and told me to get used to a new, more limited idea of my future. I fired him as soon as I was able to find a better specialist at GW, who confirmed an earlier rule-out diagnosis of Transverse Myelitis. I had a lesion at C7 of my spine and that lesion meant my body wasn’t receiving the messages from my brain clearly beneath the lesion. C7 is up towards your neck, which explains why the feeling was still present in my shoulders on up. I was lucky the lesion wasn’t higher. Had it been in C3-5, my ability to breathe could have been impacted.
Over the course of a month or so, with large daily IV infusions of Solumedrol, a steroid, then a later course of high dose oral steroids, I began to regain sensation. I could walk with a walker in the hospital, then a cane at home, then all by myself. I regularly took over an hour to creep down my building’s hall, to the elevator, and out to the pool. Normally, that took 5 minutes. Then, it was an hour and I sometimes had to turn back or simply sit on the walkway trying to breathe through the tightness in my abdomen til I could gather the strength to keep going. I’m glad the lifeguard that summer was so sweet. He was from Slovakia and we practiced his English while I tried not to drown doing stretches in the water.
Recovery was a slow, painful, frustrating process, but I got through it with the support of friends and family, and the support and understanding of my colleagues at the American Insurance Association. I was fortunate to have excellent short-term disability insurance and health coverage. I am forever grateful to that organization for their benefits and their kindness.
Thankfully, I am in the 15% or so of TM patients who experience full recovery. It’s been 14 years this June and I’ve had no additional lesions, so I am hopeful I will not be diagnosed with MS (as is common in TM patients). Rapid onset like mine usually results in ongoing disability. Fortunately, I defied the odds, with luck and great medical care. Many are less fortunate. TM patients range in severity, but one could expect permanent loss of the ability to walk, ongoing numbness, and most commonly, chronic pain. I have none of those symptoms.
I am grateful that the NIH is working on better treatment for TM patients. Many rare diseases receive little to no funding.