Coping With a Rare Disease
- Alyssa Davis, a 26-year-old living in North Carolina, recently learned that her abnormal tiredness wasn’t from being “lazy” like her doctors thought. Instead, it was due to a rare neurological sleep disorder called idiopathic hypersomnia. She hopes sharing her story will inspire others to look into their symptoms and seek help when needed.
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.
- More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
The North Carolina-native, who often takes to social media to share how she navigates an invisible disability, initially suspected her extreme sleepiness, which caused her to fall asleep during school and dance classes, was due to lack of sleep. However, when she realized how difficult it was to stay awake, she reached out to doctors.
Read MoreSpeaking to What’s The Jam in a recent interview, Davis recalled doctors dismissing her symptoms for years, urging her to “just drink coffee” or telling her she’s “lazy,” and revealed how a clinical sleep study offered her answers, the New York Post reports.View this post on Instagram
Specialists ultimately urged her to try a clinical sleep study, where she has to sleep for 14-hours straight, which led to her diagnosis idiopathic hypersomnia.
Referring to what led to her diagnosis, she said, “It wasn’t an easy journey and it still isn’t, but having a name for the struggle I’ve been trying to grapple with for so long has been a lifeline.
“It’s given me the language to explain my experiences, empowered me to advocate for myself, and equipped me to fight for a better quality of life.”
The study led to Davis’ 2017 diagnosis, as it revealed her body never went into a deep sleep.
She added, “I was practically bathing in coffee before I got an answer, and I felt like my struggles were seen as personal failings. Learning what was wrong wasn’t just a lightbulb moment, it was more like a series of flickering lights leading me forward through a dark tunnel.”
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Recounting her struggle with the sleep disorder, Davis explained, “Ever since I was a little kid, sleep and I haven’t got along. It wasn’t just like having the occasional late night. It was a constant, bone-deep exhaustion that often blurred the edge of my vision.
“I’d sit down in theater class, excited to do my favorite lesson and suddenly my memory would blur. The feeling of sudden exhaustion became a tell-tale sign that I was about to lose consciousness.”
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Davis, who noted her symptoms worsened in high school, added, “I routinely stumbled to the side in tap dance, slumped to the floor, unable to remain upright, and there were countless times when I felt unsafe. It was embarrassing, and I didn’t know what the problem was.”
Although Davis was diagnosed with the rare disease in 2017, it wasn’t until 2021 when the Food and Drug Administration (FDA) approved the first medication for idiopathic hypersomnia for adult use.
She’s now in another sleep study so she will be able to start a lower‑sodium oxybate treatment called XYWAV.
Davis, who hopes her story will inspire others to seek help when needed, took to her Instagram this year to further explain the disorder she’s living with, saying her tap dance teacher was “the only one who saw something more was going on while all the other professors wrote me off as lazy,” adding, “His kindness empowered me to seek help, leading to my diagnosis.”
She revealed she was “in the thick of a flare-up” in January following a battle with the flu, explaining, “If wishes were horses, I’d be Secretariat, galloping circles around this damn condition. But alas, reality’s a stubborn mule. My reality? Mornings battling sleep drunkenness (yes, it’s a real term), hazy afternoons filled with brain fog, and evenings spent chugging coffee.
“Sometimes, the loneliness is the worst part. The world buzzes outside my window, full of vibrant lives marked by successes I crave and relationships I dream of, but never have the energy to maintain. How do you find joy in a world that moves at a pace your body simply can’t keep up with? Anger burns hotter than the exhaustion sometimes. Anger at being unseen, untreated, and the betrayals of my own body. Social plans turn to apologies, filling me with guilt. And it seems as if the world whispers” you’re not enough, not strong enough, not even awake enough to deserve a place in this world.”
She concluded, “Some days are hard, some are blurry, but they’re all mine. Living with IH has taught me a lot about resilience, self-compassion, and the power of having a community who accepts your limitations.
“Share this video as a reminder that invisible struggles are real. If you’re curious about my own journey with this rare disorder, ask me anything! Let’s talk about idiopathic hypersomnia, managing mental illness when you have chronic illness, and finding a life worth living in the slow lane. I can’t wait to meet you there!”
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Understanding Idiopathic Hypersomnia
According to the National Institute of Health’s Genetic and Rare Disease Information Center (GARD), Idiopathic hypersomnia (IH) “is a neurological sleep disorder that can affect many aspects of a person’s life” and symptoms often start in adolescence and young adulthood, developing over weeks to months.
“People with IH have a hard time staying awake and alert during the day (chronic excessive daytime sleepiness). They may fall asleep unintentionally or at inappropriate times, interfering with daily functioning,” GARD explains.
“They may also have difficulty waking up from nighttime sleep or daytime naps. Sleeping longer at night does not appear to improve daytime sleepiness. The cause of IH is not known. Some people with IH have other family members with a sleep disorder such as IH or narcolepsy.”
Dr. Nina Shah says if you’re interested in a new treatment, don’t be afraid to ask questions.
Meanwhile, the Hypersomnia Foundation, which was created back in 2014 to support anyone living with the condition or other related disorders, said people with IH “often live without a correct diagnosis for a long time” and “may blame themselves and struggle to keep up with work, studies, and relationships.”
Hypersomnia sleep disorders include:
- Idiopathic hypersomnia
- Narcolepsy type 2 (without cataplexy)
- Narcolepsy type 1 (with cataplexy)
- Kleine-Levin syndrome (KLS)
- Hypersomnia and narcolepsy associated with other disorders
And although it’s difficult to pinpoint the exact number of people who have IH, some researchers say that approximately 1 in every 50,000 people have the rare disease. Other researchers say approximately 1 in every 3,000 people have IH, as per the foundation.
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- Resilience: Staying Positive Despite Adversity
Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.
Seeking Care at a Comprehensive Cancer Center
“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology.”
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Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.
“We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment )or trying to find specialists) is clinicaltrials.gov, a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.
Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinical Trials Can be Life-Saving for Some
Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.
By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.
And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.
Why I’d Choose a Clinical Trial For Myself
To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.
“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
PubMed
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.
If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
Newly-Developed Drugs
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.
The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.
Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
The “Right to Try” Controversy: When Should People be Given Experimental Drugs?
Contributing: SurvivorNet Staff
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