Dealing with a Rare Disease
- Indie-Folk singer Sufjan Stevens, 48, has been diagnosed with a rare neurological disorder called Guillain-Barr syndrome and is now working to be able to walk on his own again, with the help of intensive physical/occupational therapy to regain his strength and get back to life as he knows it.
- We admire his determination and optimism through this difficult time, something many cancer warriors and people diagnosed with rare disease can look up to.
- According to the National Institute of Neurological Disorders and Stroke, Guillain-Barre syndrome (GBS) is “a rare neurological disorder in which your immune system mistakenly attacks part of the peripheral nervous system, the network of nerves located outside of the brain and spinal cord.”
- 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.
As the Indie-Folk musician, known for his albums “Michigan” and “Illinois,” is now working to be able to walk on his own again, with the help of intensive physical/occupational therapy to regain his strength and get back to life as he knows it. We admire his determination and optimism through this difficult time, something many cancer warriors and people diagnosed with rare disease can look up to.
Read MoreView this post on Instagram
He further explained, “My brother drove me to the ER and after a series of tests—MRIs, EMGs, cat scans, X-rays, spinal taps (!), echo-cardiograms, etc.—the neurologists diagnosed me with an auto immune disorder called Guillian-Barre Syndrome.”
Stevens explained how treatment “luckily” exists for this rare disorder.
“They administer immuno-hemoglobin infusions for five days and pray that the disease doesn’t spread to the lungs, heart and brain. Very scary, but it worked,” he wrote.
Hopeful Stories From Cancer Survivors
- ‘Positive Thinking Is Half the Battle’: Jillian Barberie, 54, Says She Gets Screened for Cancer Every Three Months After Having a Double Mastectomy Three Years Ago
- Michael J. Fox’s Determination to Remain Positive During Decades-Long Parkinson’s Journey Shows Cancer Patients the Importance of Optimism
- 6 Cancer Survivors Tell Us How They Stay Hopeful During Difficult Times
- SurvivorNetTV Presents: ‘True North’ — A Story of Formidable Obstacles and Unwavering Determination
He revealed he spent approximately two weeks in medical-surgical nursing “stuck in a bed” while his doctors did everything possible to “keep me alive and stabilize my condition.”
Stevens is so incredibly grateful for the medical team that helped him, he insisted, “I owe them my life.”
The Michigan-born artist was ultimately transferred to acute rehab, where he is recovering and getting stronger.
“I am now undergoing intensive physical therapy/occupational therapy, strength building etc. to get my body back in shape and to learn to walk again,” he said, ” It’s a slow process, but they say I will ‘recover,’ it just takes a lot of time, patience, and hard work.”
Despite his physical setbacks, Stevens remains optimistic for his future as “most people who have GBS learn to walk again on their own within a year,” he said.
Stevens is currently on his second week of rehab, but he reassured his fans everything is “going really well” and he’s “committed to getting better.”
“I’ll keep you posted as I progress. Thank you for your thoughts and prayers,” he concluded. “And a huge shout out to all the incredible caretakers of the world working night and day to help us heal. They are living saints.”
What is Guillain-Barre syndrome (GBS)
According to the National Institute of Neurological Disorders and Stroke, Guillain-Barre syndrome (GBS) is “a rare neurological disorder in which your immune system mistakenly attacks part of the peripheral nervous system, the network of nerves located outside of the brain and spinal cord.”
The institute adds, “GBS can range from a very mild case with brief weakness to nearly devastating paralysis, leaving you unable to breathe independently.”
Thankfully, even the most severe cases of GBS are treatable and a significant portion of people with the disorder eventually recover. However, some form of weakness may still persist after recovery.
“GBS can increase in intensity over a period of hours, days, or weeks until certain muscles cannot be used at all and, when severe, the person is almost totally paralyzed,” the institute adds. “In these cases, the disorder is life-threatening—potentially interfering with breathing and, at times, with blood pressure or heart rate.”
Symptoms of GBS include:
- sensational changes
- unexplained sensations, like tingling in hands or feet
- difficulty with eye muscles and vision
- trouble swallowing, speaking, or chewing
- feeling of pins and needles in the hands and feet
- pain, possibly severe, at night
- coordination trouble and unsteadiness
- abnormal heartbeat/rate or blood pressure
- difficulty with digestion and/or bladder control
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.
“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.”
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.
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.
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.”
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.
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.
Getting a new diagnosis, whether it’s cancer or a rare disease like Sufjan Stevens, and going through the treatment process can be incredibly stressful. It’s completely normal to feel anxious, scared, sad, and so much more. The disease is a mental challenge as well as a physical one.
One way to get your mental health back in check after a diagnosis is to try to play up your strengths, Dr. Samantha Boardman, a New York-based psychiatrist and author, previously explained to SurvivorNet.
“I sometimes will ask patients, tell me about yourself when you were at your best,” she explained. “Using that story, trying to figure out what strengths come to mind, is it patience? Is it appreciation of beauty? It is perseverance? [Then we can] use those strengths in constructive ways to navigate their cancer journey.”
Dr. Boardman said another way to approach harnessing the strength you already have is by tapping into your values. This could be family, close friendships, spirituality, or commitment to a healthy lifestyle.
Reminding yourself of what your values are and how you are living accordingly is another way to unleash that inner strength.
Lastly, patients shouldn’t underestimate the value of simply opening up, Dr. Boardman said. This could mean speaking to a close family member or friend, or it could mean seeking support in other ways, by finding a therapist that meets your needs or looking into joining a support group.
Having negative feelings throughout your health journey is to be expected, however, doctors will tell you that people who find a way to work through the emotions and stay positive tend to have better outcomes.
“A positive attitude is really important,” Dr. Zuri Murrell, a colorectal surgeon at Cedars-Sinai Medical Center in Los Angeles, previously told SurvivorNet.
“I’m pretty good at telling what kind of patients are going to still have this attitude and probably going to live the longest, even with bad, bad disease. And those are patients who, they have gratitude in life.”
Contributing: SurvivorNet Staff