The story of Brooke
My nightstand has over ten different prescriptions on it, more if you count supplements and things I only take as needed. I am nearly 30, a PhD student, and married to a wonderful man. I also haven’t been able to walk much since the day after my 26th birthday, and since then the complications have only gotten, well, more complicated. Small fiber neuropathy, as I tell my doctors or anyone who inquires as to what is wrong with me, is a symptom, not a diagnosis. But just because I haven’t managed to put a name to what is wrong with me, or get any test results to come up positive doesn’t mean that the pain isn’t there, keeping me from living my life how I used to. It started as a seemingly minor muscle pull sustained in a yoga class. I used to do all sorts of activities like kickboxing. biking, and yoga. I’d pulled muscles before so I wasn’t concerned. Then home for summer, I rested it for a week or so before I couldn’t take it anymore and decided to go for an easy bike ride around the park. However halfway around I could tell something was wrong so I turned around and rode slowly home. By the time I got there I couldn’t put any weight on my left leg because of shooting pain in my quad.
I was sent to an orthopedist for what everyone thought was a muscle strain. He sent me to a physical therapist. She taped my leg in a way that only made the pain worse so that I had to cut it off of me (the tape not the leg) in the bathroom at work. Over the next week or two, it did not get any better. I had to walk around with crutches, even to and from the bathroom. One night I woke up hyperventilating from the pain and I knew there was something wrong. I went to the ER the next morning where they x-rayed and MRI-ed me, both negative. They looked at me like I must be the biggest baby in the world, and send me home with 10 oxycodone. At least it wasn’t my driving leg, I reasoned. Meanwhile I had a trip to Italy that I had planned before any of this happened, and I was too stubborn not to take it. I had to ice my leg the whole way there to deal with the pain. I couldn’t wheel my own luggage and use crutches at the same time. I made it through Rome and Venice on crutches. Most impressively, through Pompeii, though my fingers went numb from too much crutching around.
Weeks later and I still could not even take one step, the doctors determined it must be a nerve problem. I thought for sure I could now get some resolution and get back to my yoga and kickboxing. They gave me drugs for nerve pain and a TENS unit. Both of which helped a little but not much. All this happened over the summer. Now back living alone at school in Arizona the pain began to spread. First to my right quad. I was terrified. Then a few months later to both of my biceps. Finally to my hamstrings in what was a very frightening driving experience. I had to meet a thesis advisor and during my driving on the highway with a lot of stop/start traffic, I realize my hamstring is killing me every time I hit the break. I took the first exit I could, parked in a McDonalds, and called a friend crying to come get me. The last and most terrifying straw came when the pain spread to my throat and I couldn’t even speak without pain. After that I moved home to St. Louis in what my mother calls my emergency evacuation. Thankfully the vocal chords resolved, but the rest of me didn’t. One drug after another was added, and I the willing lab rat. What are the side effects? I didn’t care as long as one of them was walking. My main doctor, a rheumatologist and wonderful doctor, determined that because, among other things, I responded modestly to steroids that this must be autoimmune. This makes sense in that I definitely have flares and then it calms down. But even in my most calm state, I can barely make it to the end of the block and back without awful pain. People ask me what nerve pain feels like, is it tingling, burning, stinging, stabbing, shooting, throbbing. But mine is all of those things at different times, in different places of my body. Often the answer is longer than I feel like explaining, so I just tell them that it’s like I have an electrical problem. That seems to satisfy their curiosity.
Now, nearly 3 years after this ordeal started, where am I? Well on the one hand, the pain has pretty much spread everywhere possible, with few exceptions, although with the medications I am on, the overall level of pain is I’m sure less than it would be without them. I still can’t walk very far, or do a lot of things I used to. I can’t even open tight jars without a bolt of pain shooting down my arm. Since the pain spread to my arms I can’t use crutches anymore and have to rely on others to push me around in a wheelchair. Most recently, it has taken away my ability to speak again with any volume at all since the pain is in my throat. I could barely speak on my wedding day. I worry that I will have a PhD and still no one will hire me because I can’t speak reliably. But to the average person, I may not look handicapped when I am seen walking short distances. My pride still makes me do silly things like push the limits of how far I can walk alone before I ask my husband to let me sit down. They may only see me walk from the car (with my handicapped parking tag) into the motorized carts at the grocery store. One woman even commented to me once that it looked like a fun way to get around the store if you don’t feel like walking. She felt bad when I told her I had a nerve disorder. Hidden disability, I am learning, is a hard thing to deal with. Equally hard is unhidden disability. For example, I hate being in the wheelchair. First of all you’re constantly at crotch level. Secondly, people don’t know how to act around you – it’s usually either like you don’t exist, or like you have a mental disability.
But I am not trying to write an essay on how much it sucks to have a disability. Instead I want to focus on my treatment journey, and actually in a way how lucky I am. Both of my parents are PhDs and have their own laboratories. My father is also an MD and chief of hematology, while my mother is a biochemist. A lot of doctors sort of gave up on my case, telling me that ideopathic neuropathy happens and I will never find the cause so I just have to live with it and treat the symptoms. But my mother and my rheumatologist never gave up. And it was my mother every time who found the next drug that relieved my pain a little more. By now she has read so much of the literature in this area that she knows more about what is wrong with me than anyone else. She also paid to have all three of our exomes sequenced (an exome is the coding portion of the genome) to see if there were instances where maybe I got a recessive variant from both parents or maybe a de novo mutation in a gene related to pain in some way. That is what I mean when I say I am lucky. My father drew our blood, and my husband extracted the DNA and aligned the sequence reads. So far there are some promising candidates including a sodium channel and an opiate receptor, but it is a lot of information to go through, and hard to determine both false positives and false negatives with absolute certainty.
I am not certain that this will ever go away, but I know that if I am ever able to walk or do any other activity normally again, it will be because of my parents and my husband. I thought at first that it was contrived to be like most other people going through any type of suffering from health problems, and try to attribute meaning to the suffering. After all, the why me attitude never gets you anywhere. But it is true that I do feel a responsibility to other people who are not as lucky as me and don’t have family in the medical field who can both afford all my drugs and testing, as well as research my condition themselves. Small fiber neuropathy can be caused by many things: diabetes, MS, Guillan-Barre, many things that I don’t have. But there are a percentage of cases that remain ideopathic. The hardest part of this illness for me, aside from the pain in my entire body, is not knowing why. Not having a name to call it. Even though it might not guide treatment, there is a certain peace that comes with a real diagnosis. So my hope is that my fortunate surroundings, and my willingness to be a guinea pig will result in the discovery of something that will take the ideopathic part off of the neuropathy for others in my position. Aside from a cure for myself, that is what I want. That and a first author article in the New England Journal of Medicine.