Handling a Rare Diagnosis
- Victoria Grande, 29, struggled with stomach pains for a decade, but she was always told she had constipation. Eventually, she went to the emergency room and discovered that a nearly 4.5-inch mass had likely been growing inside of her since she was a baby. Doctors also reportedly found 100 other tumors inside her body.
- She received the rare diagnosis of growing teratoma syndrome (GTS) and underwent surgery and chemotherapy. Thankfully, she’s showing no evidence of disease today.
- 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 diagnoses. In those cases, the most effective places to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and other websites like 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 to consider 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.
The 29-year-old bartender struggled for a decade with stomach pains that came and went before she decided to go to the ER. While she was usually told her issues were because of constipation, she finally got answers in April 2022 when she was “bent over in pain” and looked “20 weeks pregnant.” Doctors found a nearly 4.5-inch mass inside of her.Read More
Advocating For Yourself While Navigating the Medical World
They also reportedly discovered another 100 tumors inside her body and gave her the diagnosis of growing teratoma syndrome (GTS) – a rare condition among patients with non-seminomatous germ cell tumors (NSGCTs).
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum (a space in your chest that holds your heart and other important structures) or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs) and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type).
Grande underwent a 10-hour operation to remove some of the tumors as well as pieces of of her lung, right fallopian tube, her right ovary, gallbladder and appendix – all of which showed signs of cancer. Next came six rounds of chemotherapy, which she finished in October.
Thankfully, she’s since shown no evidence of the disease.
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 other 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.”
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 are 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.
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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, because 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.
Clinical Trials Can Be Life-Saving for Some
Meanwhile, SurvivorNet has a new A.I. driven tool built on top of clinicaltrials.gov called the SurvivorNet Clinical Trial Finder. This user-friendly 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.
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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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