Tackling a Rare Disease
- Barbora Hájková, 38, was diagnosed with Dermatofibrosarcoma Protuberans (DFSP) after her partner urged her to go to the doctor. He said she ‘looked a little different’ than before with the lump that had developed on the side of her head. Treatment resulted in the removal of a piece of her skull.
- DFSP is a rare type of skin cancer that starts in connective tissue cells in the middle layer of the skin (dermis). One of our experts says “it's not uncommon for these to be misdiagnosed as something else, because they are so rare.”
- 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.
Before Barbora Hájková, 38, received a diagnosis that would change her life, she was initially unconcerned when her partner said she ‘looked a little different’ than before. Thankfully, he would eventually convince the mother of two to go to the doctor for the lump that had developed on the side of her head.
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DFSP is a rare type of skin cancer that starts in connective tissue cells in the middle layer of the skin (dermis). In a previous interview with SurvivorNet, Dr. Richard Reidel, a medical oncologist at Duke University Cancer Institute, explained more about this rare disease.
"DFSP is an extremely rare cancer of the soft tissues," he said. "It's not uncommon for these to be misdiagnosed as something else, because they are so rare."
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Hájková’s DFSP had spread to her skull, so her treatment involved an intense surgery to remove a piece of her skull.
“The doctor told me, ‘If you had it on a limb, for example, it would be optimal to treat it by amputation, but we simply cannot amputate your head,'” she explained. “It wasn’t entirely clear what they would have to cut out of my head and how much the tumor had burrowed into my skull.
“All this would only become apparent during the operation.”
The resulting hole in Hájková’s head was a shock for her as well as her 15-month-old daughter, Margaret.
“Margaret hugged me for the first time a week after the operation. Until then, she was afraid of me,” Hájková said. “I have to admit that I didn’t look much like me with the swollen head, bruises and bandages.”
After a “tense” several weeks waiting for pathology results, Hájková found out that she would not need further treatment.
“The surgery was a very radical solution and I am under a lot of scrutiny from the doctors as this monster tends to come back,” she explained. “Time is very precious to me, and I don’t want to waste it.”
Now, on the other side of her rare disease, Hájková has gained a fresh perspective on life and even gotten a new job she now works as a PR specialist for the F*** Cancer project “which aims to raise awareness and help cancer patients.”
“This experience has given me patience, a new perspective on the world and on life values, and a feeling that I really have something to fight for,” she said. “But most of all I’m grateful for the fact that I am healthy and I can live my life, which I don’t intend to waste.”
Resources for People Facing A Rare Disease
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.
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 servicesand 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 boarda 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 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
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.
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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
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