Resources for People with a Rare Diagnosis
- Australian ‘The Bachelor’ star Megan Marx, 33, was recently diagnosed with Spinocerebellar Ataxia.
- Spinocerebellar Ataxia is a group of inherited brain disorders that affect your cerebellum – a part of your brain vital to coordination of physical movement – and sometimes your spinal cord, according to the Cleveland Clinic. Spinocerebellar Ataxia, or SCA, is rare, and it affects about 1 to 5 people per 100,000.
- More common diseases and conditions 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 or condition. These databases can also help you find specialized doctors.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease or condition and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
Marx rose to fame after appearing on Ritchie Strahan’s season of “The Bachelor” in Australia. She’s since appeared in other “Bachelor” seasons, but she’s now thriving as an influencer.Read More
“Months of waiting for gene test results, I met with the neurologist on Friday,” she wrote in her Instagram caption. “Shit news. Diagnosis. Some tears while Keith [her boyfriend] took over the conversation.”View this post on Instagram
Although the diagnosis was understandably shocking, Marx did share an uplifting note about her current mental state. The message is deeply profound and serves as a reminder of the simple beauties that remain even when life take an unexpected turn.
“Feeling grateful for my physical body right now, in its present state, before neurological degeneration attempts to take some of me from me,” she said. “All the yays for love making and skinny dipping and hiking and painting and food-ing and bad dancing and awful conversations at bars.
“Actually feeling grateful altogether. Many have worse diagnoses. Just some processing to do. Lots of living to do.”
This is a beautiful statement coming from someone whose life as they knew it has changed for good. And the SurvivorNet team commends her for focusing on the good even when faced with adversity.
What Is Spinocerebellar Ataxia?
Spinocerebellar Ataxia is a group of more than 40 types of similar inherited brain disorders that affect your cerebellum – a part of your brain vital to coordination of physical movement – and sometimes your spinal cord, according to the Cleveland Clinic. Spinocerebellar Ataxia, or SCA, is rare, and it affects about 1 to 5 people per 100,000.
This condition worsens over time and causes specific problems with coordination usually affecting:
- Legs and mobility
Signs and symptoms of SCA usually appear after age 18 and slowly worsen over several years. Symptoms often include:
- Involuntary eye movements.
- Poor hand-eye coordination.
- Problems with balance and coordination.
- Slurred speech.
- Trouble processing and remembering information (learning disabilities).
- Uncoordinated walking.
There’s no cure for SCA, so treatment aims to relieve symptoms and improve function. SCA treatment may include the following:
- Assistive devices to help people get around, such as crutches or a cane, walker or wheelchair
- Physical therapy to strengthen muscles and improve gait and balance
- Medications to reduce shakiness, stiffness and muscle spasms
That being said, researchers are still exploring ways to help people manage and treat SCA.
Resources for People Facing A Rare Diagnosis
With a rare diagnosis can come all sorts of feelings of anxiety, fear and loneliness. 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 and conditions.
Academic Centers and Comprehensive Care Centers
For some rare diagnoses, 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 received a rare diagnosis 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 or condition 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 conditions or diseases.
By searching your disease or condition 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 or conditions are typically doctors who have specialized in the study of that disease or 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 customized 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.”
Dr. Beth Karlan, a gynecologic oncologist with UCLA Health, previously told SurvivorNet that clinical trials can be play an important role for some patients’ treatment, but they also serve a larger purpose.
“Clinical trials hopefully can benefit you, but is also providing very, very vital information to the whole scientific community about the effectiveness of these treatments,” Dr. Karlan said. “We need everyone to be partners with us if we’re ever going to truly cure cancer or prevent people from having to die from cancer.”
That being said, it’s important to remember that clinical trials aren’t for everybody. And going into a study does not necessarily mean you’ll receive better care than the standard treatment. You should always talk with your doctor(s) before getting involved in one. Some risks to consider are:
- The risk of harm and/or side effects due to experimental treatments
- Researchers may be unaware of some potential side effects for experimental treatments
- The treatment may not work for you, even if it has worked for others
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease or condition. 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 or condition, you’ll see a list of studies and articles about it. 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 or condition.
For those who’ve recently received a rare diagnosis, 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 or conditions. 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 a rare diagnosis 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.
Contributing: Joe Kerwin