Dealing with a Rare Disease
- Ashton Kutcher recently completely the NYC Marathon for his foundation Thorn which works to protect children from sex trafficking. But over the summer, we learned that he was faced with a rare form of vasculitis that “knocked out” his vision, hearing and equilibrium.
- Vasculitis, according to the Mayo Clinic, involves inflammation of the blood vessels which can cause the walls of the blood vessels to thicken. This, in turn, reduces the width of the passageway through the vessel, and can lead to organ and tissue damage if blood flow is restricted.
- 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.
Kutcher made the revelation about dealing with vasculitis after an episode of National Geographic’s “Running Wild with Bear Grylls: The Challenge.”Read More
“Like two years ago, I had this weird, super rare form of vasculitis, that like knocked out my vision, it knocked out my hearing, it knocked out like all my equilibrium,” Kutcher told Grylls adding that it took him about a year to build each back up again.
Looking back on his struggles, the That ’70s Show actor shared how easy it was to take his body’s functionalities for granted.
“You don’t really appreciate it, until it’s gone,” Kutcher said. “Until you go, ‘I don’t know if I’m ever going to be able to see again, I don’t know if I’m ever going to be able to hear again, I don’t know if I’m ever going to be able to walk again’.”
Feeling “lucky to be alive,” Kutcher has not wasted any time getting busy again and pushing his body to its limits. In fact, he just completed the 2022 TCS New York City Marathon on Sunday as a fundraising effort for his foundation Thorn – an organization that houses “the first engineering and data science team focused solely on developing new technologies to combat online child sexual abuse.”
When all was said and done, he finished the marathon with a time of 3:54:01 placing 8,139th out of 47,743 runners and raised more than $1 million dollars, according to his fundraising page. In a previous conversation with PEOPLE, he shared that his motivation came from one victim of child sex trafficking that Thorn has been trying to find over the last two years.
“I put that kid on the other side of the finish line,” Kutcher said. “I know she’s out there, and I want her to know that somebody’s coming for her.”
Resources for People Facing Rare Diseases
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.
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 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. 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.
Contributing: Joe Kerwin