Fun, Panicky, Kaleidoscopical Dynamite: being diagnosed with a genetic disorder

As of June 26, 2018 at approximately 12 pm, I was officially diagnosed with an autosomal dominant genetic disorder that affects approximately one out of 150,000 people. Though it is something that has been a part of my existence for the last twelve years, I am now equipped with the name, research, impact it has on my body, treatment options, and prognosis thanks to a wonderful neurologist at Robert Wood Johnson in the Clinical Academic Department. After a thorough conversation and neurological exam, the neurologist verified that I was blessed with Familial Paroxysmal Kinesigenic Dyskinesia. PKD for short. Fancy name for a movement disorder that runs in families. I feel it is important to note PKD is not exclusively a genetic disorder, however in my case it is.


My (F)PKD story began before I was old enough to form memories. According to my mom and medical records somewhere in my parents’ house, I had the two non-febral, grand maul seizures in a two-week span when I was six months old. The first seizure happened while I was in my cradle. Luckily my mom was present and saw it happen in time to rush me to the hospital. From there I underwent a bunch of tests to confirm there was seizure activity and no other underlying medical issues were going on. My mom vividly remembers how upsetting it was to see baby me getting a spinal tap. How bad-ass though. 27 year old me is handling everything more babyish these days.


Two weeks later, my mom was driving with my toddler-aged older brother and me when he said, “baby funny!” I was the baby. Baby was having another seizure. Because I had two seizures two weeks apart and there were no other indicators of issues, I was prescribed Phenobarbital and sent on my merry way to go, you know, learn how to walk and talk I guess? What else is a baby to do? After about a year, my mom insisted on having me weaned off the medication in hopes of me no longer needing an anti epileptic. Doctors eventually complied and I was no longer on the medication by about two years old. I have been seizure-free since. Go me!


Fast forward past age two and we move from Long Island to Central Jersey. I was doing the childhood thing. I enjoyed cheerleading, dance, and gymnastics. I had a brief stint in the Girl Scouts. I did well in school. Things were chill for childhood to adolescent me. My next “incident” of neurological nature happened when I was 15. I was in my freshman year math class. We were playing a pre-test game. We were teamed up in groups to do the problem assigned by the teacher. Once we had an answer, a team member would run up to the board and write the answer. It was my turn to run up. The pressure was on. Once we had our answer, I got up to run to the board and my right side of my body had a different agenda. My right hand uncontrollably curled inward. My right foot turned inward and my jaw was moving and clenching. Horrified but also attempting to immediately pretend nothing was happening, I spasmed my way over to the board. I remember the answer being “5.” I squiggled it on the board with my curled hand and somehow stumbled back to my desk. I remember classmates commenting on how messy my five was. If only they knew why. At that moment, I didn’t either.


I returned home from school with quite the topic of discussion for my mom. Luckily at this point I felt comfortable enough to casually communicate openly with my parents about all of my teenage woes, so that wasn’t the difficult part. I just genuinely didn’t know how to describe what happened. I vaguely remember starting the conversation with something along the lines of, “Hey, so the funniest thing happened to me at school! I tried to run to the board and my muscles spasmed and jaw moved around. Do you know anything about this?” Per her MO(m), she calmly explained I more than likely had a movement disorder that runs on her side of the family. She had it as well and had been taking medication for it since she was a kid. She told me three of her brothers also had the disorder and found relief with the same medication. She then explained however that in most cases symptoms are mild and I would have “episodes” less frequently if I slept well, decreased caffeine intake, and reduced stress. She also noted it wasn’t something totally worth discussing with doctors since it wasn’t greatly understood. She wasn’t even fully sure of the name of the diagnosis herself. Regardless, she let me know treatment existed whenever I needed it. Somehow all of this registered in my mind. I understood and felt able to balance this at 15. As with the other lovely genetic predispositions that exist on either side of my family, my parents approached my brother and me honestly about them and reassured if we ever needed help on any of the issues to simply let them know. It was matter of fact but non judgmental. It wasn’t pushy. It was a fair and highly appreciated warning.


I eventually came to accept the reality of knowing I would inevitably have a one-minute long episode approximately once a month, twice if I got lucky. I began to almost predict when they would happen beyond just feeling the “aura” I would occasionally feel preceding an episode. I learned ways to hide my episodes. I was “dealing with it” as best as I could. Before this whole thing, when I was 14, my doctor “pretty much” diagnosed me with Polycystic Ovarian Syndrome (PCOS) based on symptoms I was experiencing. She told me I would “probably have difficulty getting pregnant,” or wouldn’t have a baby successfully without some form of medical intervention. I was formally diagnosis when I was 18. So on top of monthly, one-minute long half-body “abnormal movements,” I was ALSO having unpredictable menstrual cycles. I clearly was a thriving teen. I learned early on to accept the things I cannot control, like my own body.


Beyond navigating my rebelling body, I worked hard to do well. I did the whole “be a student for a while to push off real adulthood” thing so at least I would be highly educated by the time I had a clue on what I wanted to do with my life. I did particularly well in the sociology, social work, and psychology classes and found myself enjoying (tolerating?) the curriculum. I figured it was a good path to stick with. It led me to my masters degree that ~can never be taken away from me~ according to my mom. I was experiencing episodes once every two weeks at the height of my graduate school-enduced stress, anxiousness, lack of sleep, and routine coffee drinking. It was still manageable in my book. At some point within that time frame, my mom disclosed one of my cousins was diagnosed with the disorder and started taking medication for it. I was saddened to hear it had also affected her but happy to know she found relief. It proved how genetically dominant this disorder was.


Fast forward to January 2018. I was recovering from a physically and mentally traumatic event. My left side of my body was (still is) essentially useless. I experienced severe spasms and pain from my neck, to my shoulders, to my chest, to my hands, to my lower back, to my hips, and my entire left leg (and still do). I was trying to find a new normal (still am). My body was more or less useless (still is). Despite that, I was still seeing myself as an independent woman who could take care of herself and handle life’s responsibilities on her own (this is debatable now). I felt confident that I would go through the rehabilitation motions and bounce back. That was not the case whatsoever.


As mentioned, the left side of my body had proven to be severely unreliable. I could barely walk, sit, lay, and perform basic daily functions. To compensate, I needed to rely on my right side to get me up and propel me forward, literally and figuratively. As one could imagine, physical and mental trauma affect health and stress levels. The severe pain and muscle spasms deeply affected my ability to sleep. Those two factors caused the severity and frequency of episodes to skyrocket. I was having episodes several times a day. I would get up, relying on my right side in order to do so and would experience the severe, abnormal, painfully uncontrollable movements. I then would look to my left for support to no avail. I would spasm down to my knees. This arguably couldn’t be helping my already badly bruised leg. I was having severe episodes on my right side along with severe spasming on my left during and after my physical therapy appointments. None of this was sustainable. I feared I would further injure myself if I didn’t address the multitude of issues going on, including the frequency and severity of the movement disorder. It was finally time for me to come forward and medically address it.


I feel like I should add a personal side bar of explaining why it took me several years to do this. Here’s the short list: 1) I was less than satisfied with most doctors I had and have seen in my lifetime. 2) For me personally, I’m an anti-medical model sociology student. I understand the necessity for doctors and medications but truly hate America’s health care system. Health care should be a basic human right and I loathe being treated like a number and by my diagnoses. Therefore I only go to doctors when I “have to.” Clearly my life calls for medical intervention at the moment. Anyway, I will proceed.


I updated my mom on the frequency of my episodes and she suggested I see a neurologist. I knew I had to but definitely procrastinated making the call for a day or two. My mom also suggested I talk to my cousin about her experience as it had been a long time since my mom’s diagnosis journey and she was sure things had changed. My cousin also happens to be one of the smartest people I know in real life. I knew talking to her would decrease my anxiety around starting this process. I casually texted my cousin giving her a general (shitty) life update along with divulging that I too was also impacted by the familial disorder she had. We jokingly celebrated our commonality and set up a time to talk on the phone when she was able to talk a break from her studies. I provided first-hand empathy as I had been through the educational ringer myself. Once we got on the phone, she gave me the lowdown on her experience, provided some advice on how to navigate the appointments, and as a bonus told me what medication she tried and failed first. One medication gave her bad photosensitivity, a.k.a. being allergic to the sun. I’m already allergic to the sun as it is so this information was basically life-saving for me. I thanked her for her insight and having gone through the process before me so I had some idea of what I was getting into. I otherwise don’t mind being the guinea pig but I am happy she took one for the team of affected cousins.


My first step was to schedule an initial appointment with a Neurology group. I chose to call the one closest to where I live just for convenience purposes. I requested to see someone specializing in movement disorders and they scheduled me with a specific doctor in their practice. I had my mom join me for moral and historical support, especially for the everything that happened when I was a baby and the other family members.


I guess I was never going to be fully prepared for this appointment despite the immense familial support and guidance. I was hoping the doctor would hear the family history, symptoms, diagnose me then send me away with a script for the “family medication.” In hindsight I recognize this wouldn’t be thorough or in good practice but one can dream, right? We met with the doctor and one of her students to discuss what I was going through. I told her I thought I had PKD as it was something that ran on my mom’s side of the family. My mom described her familial history along with my infantile, non-febrile seizures to provide some background. I then described my first incident and how the disorder has affected me the last eleven years. I described how “manageable” it was up until recently and how it was no longer manageable. The doctor followed all this with a basic neurological exam, wherein the only observation she had was my major anxiety. I thought it was fascinating that my anxiety could show through neurologically but I also know it makes sense, especially since I’m quite the ball of anxiety.


The doctor then proceeded to tell us that she has never seen this disorder in person. She also wanted to make sure my “episodes” weren’t in fact seizures as I was the only family member with a history of seizures in their lifetime. She wanted me to see an “actual movement disorder specialist” and referred me to a Dr. Mark at Robert Wood Johnson. Before this appointment, however, she ordered an EEG and an MRI of my brain to check for seizure activity. She also encouraged me to attempt to film some episodes to show her and my other, more special neurologist. This is due to the paroxysmal part of the disorder. She essentially said she wasn’t comfortable simply treating the disorder without ruling anything else out and without referring me to a ~real~ specialist.


I left that appointment disappointed. I was hoping for treatment on the spot. I recognize now how ridiculous that notion is but at the time I wasn’t thinking so rationally. I felt stuck in the symptoms I was experiencing. I mean, I really was. I had a new fear that I was having seizures and wondered if I did have my own, separate neurological disorder. My mom is a saint for accompanying me to these appointments and providing support after. The end result usually is me leaving with more questions and difficulty emotionally regulating. I know it’s not fun to be around me. We usually end these medical escapades with a solid lunch to debrief and find time to talk about things non-medical, though it has sort of been the theme of this year.


Within the next two weeks, I completed the EEG and MRI. The techs for both were sensitive, empathetic, and helped me get through both with slightly lowered anxiety. The EEG was first. That test was unlike anything I have ever experienced. The tech started with sticking a bunch of wires to my scalp. After being strapped in I was told to relax while the machine ran the test. I was warned beforehand that the test would conclude with strobe lights and that she’d give me a heads-up beforehand. Relaxing is not an easy task for me. It took serious effort to focus on deep breathing. Luckily I am not a novice meditator and can navigate my way through some counted breaths. The 4-7-8 method is usually effective for me.


Picture me with a bunch of wires stuck to my head, hair imaginably a wreck, chilling in a reclining leather chair, trying to breathe deeply. I’m sure it was quite the sight. I know my friend Matt wanted photographic proof for my blackmail file but I wasn’t going to further torture the tech. She gave me warning of the rave finale of the EEG and I was ready to continue “relaxing.” The strobe lights made my eyes flicker, caused my “aura” to activate, and I sneezed the second the EEG concluded. She noted my impeccable timing as the test was over. It was a solid 30 minus of checking on my brain activity. She shared her two-cents, assuring me it looked pretty normal to her and I would get a call next week if the doctor wanted me to do an ambulatory EEG. I was sent home to get the literal gunk out of my head. It actually came out easier than I had anticipated. Gunk was not my biggest enemy at the moment.


My brain MRI was next. I had feared MRIs until I had the pleasure of having my first two back to back earlier this year. They’re loud. They’re really enclosed. I’m anxious. I hate tight spaces. I had to really work out my anxiety beforehand to be able to handle the test. Since I am not on medication for anxiety, I explored the natural realm for anxiety relief and took Valerian Root before my appointment. It proved helpful in decreasing my nerves and allowing me the ability to focus on breathing. I was asked lots of questions while preparing for my MRI, which was done with and without contrast. This meant I needed to have dye injected into my veins. Did I mention I hate needles, too? Everyone was in for a ride, myself included. I disclosed my anxiety and claustrophobia to the staff and they did everything they could to ease it. They told me everything to expect, made sure the panic button was secure in my hand, and constantly checked in to make sure I was okay. I probably kept replying, “Yep, I’m good,” which usually means I’m panicking. I wouldn’t expect them to know this, though. They seemed surprised with how I handled the test. I was also just as surprised.


I followed up with my first neurologist on the results of the tests a few days before my appointment with the movement disorder specialists. She let me know my tests came back normal. This was both relieving and frustrating at the same time. I was relieved I wasn’t casually, unknowingly having seizures. That was cool. I was frustrated because I figured with the frequency of episodes I would assume something would show up somewhere. I guess that’s why this disorder is such an oddity. She also guaranteed she would forward my records to the specialist and depending on how that appointment went, would be willing to treat me thereafter if the doctor felt it was appropriate. I was feeling less irrational about the doctor “not wanting to treat me” and was recognizing she was simply wanting to be thorough. She wished me luck for my upcoming appointment. My mom and I reiterated our appreciation for her guidance and rigorous effort toward my wellness.


A handful of days later I was on my way to Robert Wood for my appointment. I was frazzled. It was an early appointment that required me to arrive early to find parking, find my mom, find the right floor, and fill out paperwork. I decided to break my no-coffee-lifestyle with my favorite kind from my favorite place, Rook, to possibly assist in getting an episode out of me. I got to the appointment relatively unscathed. Once I was in the waiting room, though, panic ensued. I was all over the place. I almost left my wallet at the front desk. It required my mom and other patients to get my attention to grab it. It was weird hearing a chorus of people saying, “Chris, your wallet!” On a completely unrelated note, I truly dislike when people I’m not close with calling me Chris. You don’t know me like that! But I digress.


The appointment from start to finish was almost two and half hours long. I feel like that’s unheard of nowadays. I was taken in by a nurse relatively quickly to take care of vitals and the reason for my visit. She noted my pain level and anxiety were concerning. I told her it was another day in the life. The doctor made her way to the room and we got down to the nitty-gritty. Her intelligence and knowledge on the subject was evident. Her sense of humor was also on-point. She told me she appreciated having a young, smart patient as most of her current patients were older adults with Parkinson’s. My mom and I retold our stories. The doctor did a more rigorous neurological exam than my first, which honestly feels more physical than anything. I had to tap my nose to her fingers, push and pull various limbs, perform memory recall, and an array of other physical tasks. It felt almost akin to an extremely in-depth field sobriety test… not that I’ve ever had to perform one of those. My dad is a huge Cops fan.


She then prompted me to have an “episode,” which required her to actually scream at me something to the effect of “GET UP AND RUN RIGHT NOW!” It send my right side into a spasm. It felt unnatural. The episodes hurt my muscles. I normally try to mask them. “Masking” episodes turns into me unsuccessfully fighting with myself to not be so spazzy. I told her I was trying not to fight it but it was second nature to do so. She watched me intently. Once it was over I sat back down. She then confirmed what we all knew. I had PKD. I did not have any other neurological disorders, unless we include the anxiety. We thoroughly discussed treatment options and she agreed that prescribing me the “family medication” would be a good place to start. She said she would normally first prescribe Tegretol however with my cousin experiencing photosensitivity and my pre-existing photosensitivity, she agreed to skip that step. She prescribed Dilantin. She said she would make sure I had around nine months to a year’s worth of refills and could follow up with a local neurologist next year. She told me to call her if I had any issues with the medication as Dilantin has a number of side effects and contraindications. My mom and I expressed deep gratitude in her help. I picked up the white-and-lavender pills later that day. I felt solace in the notion of no longer needing to fear my episodes. I was advised to ease into the medication by taking the pill once every other day as the medication has a 24-hour half-life. I eased into a routine that felt right for me and would eliminate episodes. I know it works because when I have forgotten to take it, I felt the aura come back. Beyond that, I have found an effective way to manage this one part of my medical story. Its helped to have one aspect under control.


See? It has been a fun journey. I panicked constantly throughout. It shifted my perspective on opening up about my struggles. It taught me to challenge my thoughts and fears head-on. It taught me to slightly rotate the outlook I had on my life, sort of like a kaleidoscope. I had some dynamite-grade reactions throughout. I was about ready to explode at any moment. Despite not handling this as gracefully as others may, I am proud of solving this mystery in my life. I have lived the last twelve years faking and hiding this from most people. I didn’t think I would openly discuss it, let alone write about it. I have been given both treatment and a voice to talk about one of my battles. That’s a big accomplishment for me. I was given more than I asked for.