Guidance On Handling a Rare Disease
- Talk show legend Montel Williams was diagnosed with Multiple Sclerosis (MS) about 24 years ago, but he hasn’t let the disease impact his outlook in life—and has become an advocate for people living with rare disease, thanks to a recurring series on “The Balancing Act” called “Behind the Mystery – Rare Diseases.
- Multiple sclerosis (MS) is a disease in which the immune system eats away at the protective covering of the body’s nerves. Currently, there is no cure for MS, although some people treat the disease using chemotherapy, medications, or steroid drugs.
- 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.
Multiple Sclerosis (MS): Inspiring Stories from SNTV
Read MoreHe captioned a recent Instagram post, “On Rare Disease Day, I’m taking a moment to reflect on my journey with MS and to advocate for those living with rare diseases. Being part of @behind_the_mystery has been instrumental in understanding my own MS diagnosis while supporting others with rare diseases.View this post on Instagram
“There is power in lifting each other up, sharing information, and impacting the lives of those living with rare diseases.”
In the footage included in the post, Williams is seen telling his audience about why the show “Behind the Mystery” is so powerful. According to “The Balancing Act’s” website, “Behind the Mystery” is described as “a recurring series on The Balancing Act devoted to advocating for rare and genetic diseases.”
“The series clarifies the often-complex issues by offering easy-to-understand explanations from top experts in the field through partnerships with foundations and pharmaceutical companies. We amplify the voices of patients, families, and advocates affected by rare diseases via our national television platform,” it states.
Williams explained on the show’s recent episode, “For me, ‘Behind the Mystery,’ literally amplified something that I believed in for 30 years. If I learn something about my illness I want to make sure I get to share it with others because it’s almost criminal that I would take advantage of something that helps me … and don’t let other people at home know that it could be helping them.
“That’s what so powerful about ‘Behind the Mystery.’ Yes – these are rare diseases. A lot of people … it goes right over their head. But for that person that’s suffering at home and is experiencing the same thing that our guests are experiencing, you know that that moment lights them up. ‘Somebody finally sees me.’ And that’s what we all want to be … we all want to be seen.”
He concluded, “So it’s been extremely gratifying. I appreciate the fact that we get to share with so many people information that’s going to impact their lives no matter how or where they think their illness is.”
View this post on Instagram
In another video clip from the show, shared just a couple of weeks ago, Montel is heard telling the crowd, “In the rare disease community, a lot of people literally feel as though they are unseen.
“Because it’s rare, most people don’t know about it. But by shining a light on it, you at least making people understand that they are not alone and can give them an idea that … yes, there are people that are concerned about them… people that care … people that are willing to find answers… I think that’s a win-win for everyone.”
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Earlier this year Williams, shared another inspirational Instagram post, writing, “It’s not about being perfect—it’s about being better than you were yesterday.
“Let’s commit to healthier choices, one day at a time. Who’s with me? #DailyProgress #HealthJourney”
View this post on Instagram
Montel Williams’ MS Journey
Montel Williams experienced his first symptoms of Multiple Sclerosis long before he received his diagnosis. In fact, he says it was his required immunizations about four months prior to his graduation from the Naval Academy in 1980 that seemingly triggered his first MS bout.
“I lost 80% vision in my left eye and was put on medical hold on the military because they thought I would be blind in one eye,” he previously told MedicineNet. “My commission was held up when I graduated, because at that moment I was not qualified to become a naval officer.”
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After seeing various doctors, Williams still didn’t have answers for his vision loss.
“No one at the time even speculated MS, because if you look back, this was 1980 and back then, the disease was only associated with Caucasian females of northern European descent, and here I was a 22-year-old African-American male and at that point 100% in great shape. MS was the farthest thing from any doctor’s mind,” he explained.
Even though Williams’ vision had returned, the rare disease advocate still could not pursue a degree in aviation since his eyesight had deteriorated. Eventually, he became an intelligence officer.
View this post on Instagram
“I continued my career, and over the course of the next 10 years while on active duty, every three or four months I would go back to the doctors because there was something wrong usually a really weird feeling in my legs or feet,” he explained at an event in 2020. “They kept telling me to lose weight and that my back pain would go away.”
Williams’ condition kept declining over the years to the point where his feet felt like they were on fire. It took about 19 years before he was finally diagnosed with Multiple Sclerosis.
“I went to see a doctor, and he told my ex-wife, ‘he looks like he has MS.’ That was on a Friday. On Saturday, he said to me, ‘you have MS,'” he said. “I had no idea what MS was. No one had ever used those words to me before.
“He handed me some literature and said, ‘We don’t usually see this in an African-American male, and it’s the category that does the worst. I expect you to be in a wheelchair in the next four years.’ This doctor had the nerve to tell me this… I almost literally picked him up and threw him out of the room.”
Ever since his diagnosis, William has done everything he can to learn more about his condition and share his experience and knowledge with others.
“Every single one of us who has this disease suffers differently,” he explained. “It was so important to have my family stand with me and help me in those times when I felt my journey was about to end.”
Understanding Multiple Sclerosis
Multiple sclerosis causes the immune system to attack cells that form the protective sheath that covers nerve fibers in the spinal cord. The disruption leads to communication problems between the brain and the rest of the body.
Once the protective barrier is damaged, the spinal cord struggles to communicate to the body’s arms, legs, and other parts to function normally.
The National Multiple Sclerosis Society lays out the different types of multiple sclerosis:
- Clinically isolated syndrome (CIS) is when an individual experiences a single neurological episode lasting 24 hours or less. CIS is what MS is diagnosed as until there is a second episode.
- Relapsing-remitting MS (RRMS): The most common MS among the million people battling the disease in the US, RRMS is marked by sudden flare-ups, new symptoms, or worsening of symptoms and cognitive function. The condition will then go into remission for some time before reemerging with no known warning signs.
- Primary progressive MS (PPMS): These individuals have no flare-ups or remission, just a steady decline with progressively worse symptoms and an increasing loss of cognitive and body functions.
- Secondary progressive MS (SPMS): This almost transitional form of MS progresses from RRMS to PPMS.
In addition to balance issues, numbness, and tingling in the limbs, other common MS symptoms include vision and bladder control problems. Mood changes and mental and physical fatigue are other symptoms people living with MS may experience, according to the National Institute of Health.
The National Institute of Neurological Disorders and Stroke explains this disease as: “An unpredictable disease of the central nervous system, [MS] can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted.” Investigators of the disease believe it to be an autoimmune disease.
Many people fighting MS experience muscle weakness and difficulty with coordination and balance, so it’s absolutely incredible and encouraging to see Williams thriving with the disease.
Currently, there is no cure for MS, although some people treat the disease using chemotherapy, medications, or steroid drugs.
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.
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.
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The Importance of Support
Having a strong support system is crucial during the emotionally and physically taxing job of fighting cancer or battling disease like MS.
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“Studies have found consistently that loneliness is a significant risk factor for physical and mental illnesses and the trajectory of recovery,” licensed clinical psychologist Dr. Marianna Strongin previously told SurvivorNet.
“The act of sharing our time and words with others can alleviate emotional and physical pain.”
In order to receive support, however, it is imperative you share at least some details about your journey, either with disease or a disability, with others. But whom you share with and how much to share is entirely up to you.
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“Some people start to kind of share the information with many family members and friends, and they feel that works for them, and that it’s a way that they can get support from other people,” New York-based psychiatrist Dr. Lori Plutchik said. “Other people are much more private about it, and there is no one right way to handle this diagnosis. People should do what feels right to them.”
Some cancer survivors don’t need to go beyond their circle of family and friends for support, but others might need a little extra help. For the latter group, Dr. Plutchik recommends reaching out to a mental health professional who has experience working with cancer warriors.
“Try to find a mental health professional who is experienced in this area and who really understands the nuance and intricacies involved in this,” Dr. Plutchik explained. “Make sure that the mental health professional that you work with is reaching out with your consent to the rest of the team, to the oncologist, to the surgeon if those people are involved.
“It can be helpful to reach out to family, friends, anybody else, any other caretakers that would be involved in the person’s treatment. You don’t want a situation where everybody is kind of doing their own thing on the team.”
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Contributing: SurvivorNet Staff
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