Rare Disease Day
- SurvivorNet’s experts have guidance on how to seek out specialized treatment providers. Two resources are websites called Clinicaltrials.gov and PubMed. These databases can help you find doctors who specialize in your disease. More common cancers might not require the same degree of specialized attention, but for rare cancers, finding doctors with specific expertise is essential.
- Other options you may pursue include enrolling in clinical trials, researching companies that are in the process of developing drugs to treat your specific cancer, and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
- It’s also important to remember there are many people out there for cancer warriors to be vulnerable with, if they’d like. And whether that’s through social media, therapy, support groups or simply connecting with your closest family and friends, it’s worth it to try to find the support you need during your cancer journey.
There are 300 million people worldwide living with a rare disease. The U.S. Food and Drug Administration reported in 2021 there were approximately 7,000 rare diseases which affected 30 million Americans.Read More
One place to start when you’ve been diagnosed with a rare disease 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 cancer 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.
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.
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 cancer. 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.
Academic Centers and Comprehensive Care Centers
For some cancer warriors, community oncology provides great treatment options. But for people with rare cancers, 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.”
For those who’ve been recently diagnosed with a rare cancer, 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.
Finding Support When You Need It
Whether you’ve been diagnosed with a rare disease or not, it’s important to know that you’re not alone when you’re faced with a cancer battle. There are always people out there for you to be vulnerable with, if you’d like, and connecting with others as you battle the disease can make a world of difference – something Kate Hervey knows this all too well.
A young college girl, Hervey was shocked to be diagnosed with synovial sarcoma, a rare type of cancer that tends to form near large joints in young adults, after seeing her doctor for tenderness and lumps in one of her legs.
Hervey was a nursing student at Michigan State at the time of her diagnosis. She had to handle her cancer battle during the COVID-19 pandemic and scale back on her social activities as a high-risk patient. That’s when she turned to TikTok as a creative outlet and inspired thousands.
“One thing that was nice about TikTok that I loved and why I started posting more and more videos is how many people I was able to meet through TikTok and social media that are going through the same things,” she says. “I still text with this one girl who is 22. If I’m having a hard time, I will text her because she will understand. As much as my family and friends are supportive, it’s hard to vent to someone who doesn’t know what it’s really like.”
Hervey is now cancer-free, and says she couldn’t have done it without the love and support of her TikTok followers.
“I feel like I’ve made an impact on other people and they have made an impact on me through TikTok, which is crazy to say. I can help people go through what I’ve been going through as well.” She has graciously agreed to allow SurvivorNet to use her content in order to help our community.
So while sharing your story to a vast TikTok audience might not be your thing, it’s important to consider opening up to others during your cancer battle. Dr. Scott Irwin, a psychiatrist and director of supportive care services at Cedars-Sinai Medical Center, previously spoke with SurvivorNet about the grief that can come after a cancer diagnosis and how to handle it.
“Grief comes in waves,” Dr. Irwin said. “They’re grieving the change in their life. The future they had imagined is now different.”
In his expert opinion, talk therapy is the best way for cancer warriors to navigate the complex emotions from a cancer diagnosis.
“People that are struggling with coping with the experience, coping with body image should reach out to their doctors, find a therapist in the community. Often there’s cancer support groups.”
“Talk therapy really is the way to deal with these emotions… It’s about meeting the individual patient where they are and their feelings, how they’ve always dealt with their body image, what the body image changes mean now in their lives and their relationships, and how they can move forward given the new reality.”
Contributing: Joe Kerwin