How it Started
I was no stranger to pain. After all, I was diagnosed with chronic daily headaches and migraines, fibromyalgia, and CFS/ME at the age of 15, but I never imagined that these would take a backseat to a whole new slew of diagnoses in my 20s. What started as a normal day at the video game studio I worked at changed into a whirlwind of ER visits, multiple doctors, and road trips with a single step. Well, actually, a single missed step. As I ran to the kitchen from my office to make some lunch, the seemingly innocuous three stairs I'd gone up and down countless times changed my life. Suddenly, my left foot just wouldn't flex. I later learned that this is called "drop foot". I couldn't move my foot and just slid down the stairs.
Being the "worker bee" that I am, I was confused, but still got my food and did my best to get back to my office. I mean, it didn't hurt, so how bad could it be? As I was finishing up for the day, I figured it couldn't hurt to ask my mom, a nurse practitioner, to see what she thought about it. It was then that I realized that my calf had been numb for a couple of weeks, but I had just chalked it up to one of the many weird effects of fibromyalgia. My mom didn't agree. She told me that this could be very serious and for my husband and I to meet her at the ER.
The ER, the Neurologists, and the Diagnosis
After several hours (of course), all they could tell me was that I had drop foot. They put me in a soft cast, sending me home with steroids and a follow-up with a neurologist. By the time I had the neurologist appointment, the drop foot was improving, but they still wanted to do an EMG/nerve conductivity test. This showed that the largest nerve in my leg, the peroneal nerve, had died, and the one in my right leg was going with it. They also said that regrowth was going to hurt. However, both were also working hard to regrow, and I was lucky (for once). But they couldn't figure out what caused it, especially since I had numbness and burning spreading from my feet and legs, through my whole body in the coming months. A lot of diagnoses were thrown around, but I ultimately ended up with a referral to Washington University at Barnes Jewish Hospital in St. Louis, MO, to the neuromuscular division. This was several hours away, so my diagnosis went slowly. Tests and MRIs were ordered in my hometown in between trips up there, and many doctors and their students tested me while I was there. Dozens of diagnoses were ruled out, from Baker's cysts to multiple sclerosis. All the while, I ended up with a leg-up brace and antalgic gait, leaving me needing a cane at 26. The med students loved me though! After a year or so of back and forth, trying to rule out life-threatening diseases, I got lucky again. My specialist, who had been thinking this could be my issue from the beginning (though I'm not sure why it took him so long to want to test for it), suggested a skin punch biopsy. Come to find out, he was one of the top three doctors in the US who had been studying and publishing papers on a certain disease and was literally the only one nearby me who even knew what it was. Since I lived far away, when the results came back he called me right before Christmas. The skin punch biopsy found that I had the worst case of small fiber peripheral neuropathy he'd ever seen. In fact, it was also classified as "non-length dependent", which is apparently a lot less common. But I had an answer! Small fiber peripheral neuropathy (SFPN or just SFN for short), means that the small nerve fibers that cover all your skin and most organs lose myelin, the protective cover on all nerves, and die. This is what was causing the numbness and burning. It can sometimes present in larger nerves (just to get your attention, I guess), and cause things like, you guessed it, foot drop! For most people, it generally affects the feet and lower legs, and occasionally the hands and lower arms. For me, with that pesky non-length-dependent version, it affects everything. Literally from head to toe, inside and out! More unfortunately, it is idiopathic, so I can't treat the underlying condition that caused it, as it is unknown. There are a couple of tests I could still try, but he seemed to think that it wouldn't matter, which is not so lucky. I've narrowed it down to the most likely cause, but it is nothing that can be treated. Furthermore, as of last year, the doctor quit the hospital and moved, and is no longer treating patients. I guess my luck ran out! But, I still consider myself lucky to have fallen into the lap of the one doctor in my area who knew, and knew well, what I had and was able to diagnose it. Especially since it can take even longer for most people, and not everyone has access to that test.
After the Diagnosis, and a Word of Wisdom
I've gotten several more diagnoses since, such as dysautonomia. This, is specifically, related to small fiber peripheral neuropathy, as it's expected that 30% of people with my dysautonomic disease, POTS (postural orthostatic tachycardia syndrome) have. I was just diagnosed in the opposite way that most are, with SFPN first! Though he's left the practice and Wash U entirely, I'm still grateful to that doctor, as I know I'd likely still be awaiting answers more than 10 years later! It's been a pain to find knowledgeable doctors since, but I got lucky again after a disability appeal session that included a specialist from across the country. The specialist told the judge to trust everything my doctor had written in (and my records), because he is one of the best authorities on it. That specialist said I was lucky to find him, too! And though now I'm basically best friends with pain (we've been together for so long!), and have more than ever, I'm at least not in the dark about it. I ended up on disability before the age of 30, and still use a cane. Occasionally, I'll use a rollator or wheelchair. I've had a lot of fun creating wild stories about why I have a cane at such a young age (especially when this first started since I was only in my mid-20s) since random strangers love to ask about the reason or give me the classic, "but you don't look sick" line. You've got to keep things interesting, right? You don't owe anyone your story unless you want to give it. But if they won't leave you be, use your imagination! I think my favorite story was the shark bite… Just remember, the road to diagnosis can be long and difficult, but hang in there! Advocate for yourself, always! You know your body better than anyone else, and you deserve answers. Also, I couldn't have gotten through any of this without my "support team". My specialist himself said so! Without my mom and my endlessly devoted husband who never once doubted me and has supported me through it all, I'm not sure that I would've kept pushing for the answers I desperately needed. Lucky again! Oh, and if your leg suddenly goes numb, try not to blame it on something else until it gets worse!
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