Living with Narcolepsy, Running for a Cure
10 months ago I was diagnosed with this rare, neurological disease. As a neuroscience major and daughter of an immune therapy scientist, I was in the “right place at the right time” to be the first, human subject in a novel treatment. I am telling my story to build awareness about the disease and to raise money for “Wake Up Narcolepsy,” an organization that supports research and treatment for narcolepsy.
In January of 2018, I was diagnosed with an autoimmune, neurological disorder called narcolepsy (Type 1 narcolepsy with cataplexy to be precise). Today, ten months after my diagnosis, I begin my fundraiser for Wake Up Narcolepsy, to raise awareness, funds for narcolepsy research, and to run the Boston Marathon on April 15th, 2019. Here’s why:
When I graduated college in June of 2017, older friends and relatives warned me that the first year of adulthood would be a tough transition. In fact, it has been the most challenging year of my life.
Unlike most people with narcolepsy, who develop symptoms slowly over a few years, my symptoms developed over a few weeks in December of 2017. Practically overnight, I lost my ability to regulate my own wakefulness and sleep, and developed the hallmark symptoms of narcolepsy:
- an inability to stay awake throughout the day (excessive daytime sleepiness),
- unrestful and frightening nights of sleep (fragmented sleep, insomnia, vivid nightmares & sleep paralysis),
- constant confusion and daydreams that came to life (hallucinations),
- and temporary, full-body muscle paralysis induced by positive emotions, like laughter (cataplexy).
This all began about two weeks into my first job as a clinical research coordinator in an Alzheimer’s research group in the Psychiatry & Neurology department at Brigham & Women’s hospital. Though this sounds like the worst possible timing, in a way, it was the best. Given the lack of awareness about narcolepsy among most doctors and the public, most people with the disease spend years living with symptoms before an accurate diagnosis is made. I was lucky due to a fortuitous series of events: I had recently graduated from Dartmouth with a major in neuroscience, I had just started a job at a Harvard hospital working with a team of highly trained neuropsychiatrists, and my mother is a physician-scientist with a background in immunology.
About a month into my job, my wonderfully compassionate boss (a geriatric psychiatrist) checked in with me to inquire how things were going. I described my unusual tiredness, my inability to focus, my constant nightmares and vivid dreams. “And whenever I laugh, or get excited, my knees buckle, and my neck and jaw feel weak, and sometimes my head drops, or I stumble,” I continued. She stopped me there, “I’ve heard of that, it’s called cataplexy: episodes of muscle weakness triggered by strong emotions.” That was exactly it. “I think it’s a symptom of narcolepsy,” she said.
The next few days are a blur. After googling “narcolepsy,” I sent my mother a slew of rapid-fire texts detailing all the reasons I was absolutely positive that I had this disorder (classic millennial googling their symptoms to self-diagnose a rare disease, I know). My mother quickly came around to the idea that narcolepsy fit my symptoms.
Being the badass woman that she is, she immediately reached out to the two top narcolepsy experts in the U.S. — Dr. Thomas Scammell at Harvard and Dr. Emmanuel Mignot at Stanford — and convinced them to take her calls. Fortunately Dr. Scammell works at one of the Harvard hospitals right across the street from my office. A few days later, I was admitted to the Neurology Ward of Beth Israel Hospital, where Dr. Scammell diagnosed me with Type 1 Narcolepsy with Cataplexy. My mom did her own reading and interrogated Drs. Scammell and Mignot about the autoimmune underpinnings of narcolepsy (more about this later). Together they devised a treatment plan for me that included several investigational immunotherapies; I am now “patient number one” for one of these cutting-edge treatments.
My life today is very different than my life a year ago. Each day is its own challenge, requiring around the clock medication, scheduled naps, and constant adaptation. I am grateful for my parents’ unwavering support (my Dad is Gibson Biddle), my doctors’ attentive care, my colleagues’ compassion, and everyone else in my life who has supported me and taken the time to ask me about narcolepsy — its neurological and immunological underpinnings, its symptoms, and how it affects me and others. Every day, I learn a bit more about how to live with and understand this fascinating, frustrating disorder.
Through all this, I’ve developed a love/hate relationship with the brain. My neuroscience knowledge combined with my premed training, love of Grey’s anatomy, and medical school ambitions provide a unique perspective on this brain disorder. On the one hand, I am fascinated, as I simultaneously learn about and experience bizarre neurological symptoms, fancying myself a young neuroscientist studying her own injured brain, just as Jill Bolte Taylor and Oliver Sacks so famously did. On the other hand, I often find myself thinking “Why me?”
The simple answer is random bad luck compounded by timing and genetics. The average age of onset for Type 1 Narcolepsy with Cataplexy is between age 10 and 25 (I was 22). During adolescence, your immune system is learning and maturing, figuring out how to identify and kill foreign agents (viruses, bacteria, etc.) while preserving and protecting your own anatomy. But sometimes the immune system gets confused. When you develop an infection with a virus, like the flu, or bacteria, like streptococcus, and instead of targeting and destroying these pathogens, the immune system attacks and destroys the body’s own cells and tissues.
Recent research suggests that narcolepsy is triggered by an autoimmune response, in which T cells in the immune system are activated by a pathogen (maybe a flu vaccine, flu virus, or strep infection — we’re not quite sure), but then mistakenly target a small class of hypocretin/orexin neurons in the base of the brain’s hypothalamus (the command center for the most basic functions of life, like breathing and consciousness). Hypocretin/orexin cells make up the neurons responsible for regulating sleep, wakefulness, metabolism, and certain aspects of mood. This autoimmune confusion is far more likely in people who carry a specific immune system variant, or human leukocyte antigen, HLA-DQB1*0602. Though 20–30% of the general population carries this antigen, the vast majority are narcolepsy-free, >99% of people with Type 1 Narcolepsy have the DQB1*0602 haplotype, including me. In fact, this is the strongest HLA association of any human disease.
Once this autoimmune process begins, the hypocretin/orexin neurons rapidly die resulting in a loss of the neurotransmitter hypocretin, taking away the brain’s ability to regulate arousal, sleep, wakefulness, and body metabolism. Once most of the neurons are depleted, people with narcolepsy develop cataplexy, during which excitement, laughter, or any strongly positive emotion triggers a sudden loss of muscle tone similar to the muscle paralysis experienced during REM sleep. Without these neurons, a person becomes reliant on medication to regulate sleep and wakefulness, is unable to laugh without crumbling to the ground, and (until there’s a cure!) is bound to a life of wake promoting and sleep promoting drugs to take over these very basic functions of the human brain.
But if this disease is caused by one’s own immune system destroying neurons in the brain, why isn’t it treated with drugs designed to reverse this immune attack, similar to other autoimmune diseases of the brain such as multiple sclerosis? This is the question my mother, a cancer immunotherapist, discussed in depth with Drs. Scammell and Mignot, following my diagnosis. The reality is that the scientific understanding of the autoimmune basis of Type 1 narcolepsy is still evolving and the awareness of this remains limited among researchers and drug companies focused on developing treatments for neuro-inflammatory diseases. “We have wanted to explore immune therapies for narcolepsy,” both doctors stated, “but too often the diagnosis is delayed and the hypocretin neurons are already destroyed and spinal fluid levels of the hypocretin neurotransmitter are already undetectable.” If immune therapies are going to work to reverse this autoimmune neuronal destruction, they need to be started early in the course of the disease, since neurons in the brain don’t re-grow.
At the time of my initial evaluation by Dr. Scammell, I was fortunate to be able to have my spinal fluid shipped to Dr. Mignot’s lab at Stanford to measure my hypocretin level, which, while low, was still detectable, suggesting that I still had some hypocretin neurons left to save. Dr. Scammell acted quickly and sent us a case report of a young woman with narcolepsy in France who appeared to respond to treatment with infusions of pooled antibodies called “IVIG” with an associated increase in her spinal fluid hypocretin levels. Did I want to try this investigational immune treatment? I was game.
Next, my mom reached out to Dr. Alfred Sandrock, the Chief Medical Officer of the company, Biogen, who makes the drug, Tysabri, used to treat multiple sclerosis. This drug prevents autoreactive T cells from traveling to the brain and has demonstrated the ability to reverse the neuronal destruction associated with multiple sclerosis. Would Biogen be willing to file a single patient “compassionate use” investigational new drug application with the FDA to see if Tysabri might have a similar neuronal protection effect in narcolepsy? Dr. Sandrock said “Yes”, and after 2 weeks of paperwork, FDA and hospital ethics committee submissions by Drs. Scammell and Sandrock, I became patient number 1 with Narcolepsy to be treated with monthly infusions of Tysabri.
I still don’t know if Tysabri is helping me and whether my spinal fluid hypocretin levels might have stabilized or even increased with this treatment, but it feels good to know that I might have kick-started research into a new treatment approach focused on reversing this disease early in its course rather than just managing a lifetime of symptoms.
Like most people with a chronic, invisible illness, I look remarkably “normal” and healthy — to the casual observer. But my backpack full of pills tells a different story. To manage my symptoms, I take medications around the clock. These include:
- Methylphenidate (take 3x a day (8am, 10:45am, 1:30 pm) to stimulate wakefulness)
- Sodium Oxybate/Xyrem (take twice a night (12:15am and 3:30am) to promote nighttime sleep and improve daytime sleepiness and cataplexy)
- Fluoxetine (take in the morning to reduce cataplexy)
- Verapamil (take twice a day to treat high blood pressure, a side effect of Methylphenidate)
- Tysabri (experimental intravenous infusion once a month to block T-cell trafficking to my brain)
- Naps (1–3 times a day for 20 min to improve wakefulness)
This is all a big change for a recent college graduate on her way to medical school. While many of my twenty-something friends enjoy going out a couple nights a week, I lead a fairly regimented life. I avoid night-time activities, since staying up late is both unpleasant in the moment, and causes my symptoms to be twice as bad the next day — far worse than any hangover you could imagine. I no longer drink alcohol, since alcohol in combination with my drug treatments can have fatal consequences. And while my parents are used to me taking naps on the side of a hiking trail, in a department store changing room, or falling asleep in the car — I can fall into REM sleep in less than 15 seconds! — it’s harder for my peers to understand what’s going on.
Sadly, one of the reasons I am focused on building awareness of the disease is that the disorder provokes humor among peers — “is that the disease where you fall asleep during meetings?” And it’s not uncommon for people to confuse “narcoleptic” with “necrophiliac” (a person who is sexually attracted to dead bodies). Beyond knowing the spelling and meaning of the word, most don’t understand the profound effect Narcolepsy has on one’s life — that my tiredness is permanent, and completely out of my control. I’m still working to discover what the “new normal” looks like and to answer basic questions like whether I can study for the MCAT’s or whether the disorder can be managed carefully enough for me to proceed with my hoped-for medical career.
In the eight months since my diagnosis, I have fully lost and regained my confidence and sense of identity. Though I do still wonder “Why me?” I’ve begun to think “Why not me?” As I learn to cope with my neurological disorder, and continue to thrive, I’ve become increasingly passionate about understanding the disordered brain, and helping others to cope with their unique challenges. Living with a chronic illness has helped me understand how to be grateful for the good even when life is challenging, and it’s given me a great deal of perspective about what is truly important in life: family, health, and a sense of purpose and fulfillment.
Despite my neuroscience education, I was the first person I ever met with narcolepsy. Ten months ago, my mother, who has studied immunology for decades, didn’t have a clue about the disease, its autoimmune basis, or how to recognize its symptoms. Now, she is educating her immunology, biotech and drug company colleagues about its autoimmune underpinnings and high unmet need, and I want to do the same.
Unfortunately, I am just one person with narcolepsy. Approximately 1 in 2,000 Americans have Type 1 Narcolepsy with Cataplexy. It isn’t that rare. It is however misunderstood by the majority of Americans and understudied by academic researchers and drug developers. By fundraising for Wake Up Narcolepsy, I hope to spread awareness about the science, symptoms, and seriousness of narcolepsy. The first step in doing that is what I’m doing right now: sharing my story, and hoping that by reading it you might better understand this cryptic autoimmune neurological disorder. Perhaps you know someone who has it or might have it, but hasn’t yet been evaluated by a sleep disorder specialist? I am open to questions, and am very happy to have a conversation about narcolepsy with others.
In addition to raising awareness, I hope to raise $50,000 for narcolepsy research. All tax-deductible donations will go directly towards the research of Dr. Thomas Scammell at Beth Israel/Harvard and Dr. Emmanuel Mignot at Stanford. In addition to being the two most prominent narcolepsy researchers in the U.S., they are also my doctors and have moved mountains to help me access cutting edge investigational therapies for narcolepsy. Their research has contributed to an improved understanding of the autoimmune etiology of narcolepsy and the testing of new drugs in animal models. Your donations will continue to fuel their research, and I hope that someday, this research will enable immune intervention strategies, better symptomatic treatments, and possibly a cure.
If you’ve made it this far, thanks for reading. If you have any questions for me, please don’t hesitate to comment or send me an email. I’m an open book.
I am forever grateful for your kindness & support and encourage you to give big to “Wake Up Narcolepsy.” It would mean a lot to me. To learn more about narcolepsy and to make an online donation to support my run for a cure, Please Click Here.
Wake Up Narcolepsy is a 501(c)3 non-profit organization, and all donations are tax-deductible. To make an offline donation, you can mail a check to:
Payable to: Wake Up Narcolepsy, Inc.; on behalf of Kelsey Biddle
Address: Wake Up Narcolepsy, Inc., P.O. Box 60293, Worcester, MA 01606
Contact: Kelsey Biddle | Email: email@example.com | Instagram: biddlekd | Twitter: kbiddle616