Receiving a Rare Cancer Diagnosis
- A woman living in England was diagnosed with a rare disorder called pseudomyxoma peritonei, which was caused by an appendix cancer in her case, in January 2021. She then underwent surgery to remove seven of her organs in order to survive, and now her husband is raising funds for the hospital that saved her life.
- SurvivorNet's experts have guidance on how to seek out specialized treatment providers. One resource is a website called Clinicaltrials.gov. This database can help you identify doctors who are researching cutting-edge treatments for 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.
Jackie Davies went in for surgery on an ovarian cyst in February 2020, but the surgeon spotted a tumor that seemed to originate from her appendix. She was then referred to an English hospital called The Christie, and an ultrasound in November 2020 revealed about a 5-inch tumor near her ovary.
Read MoreHer treatment path required having “the mother of all surgeries.” But, thankfully, the complex, eight-hour procedure that involved removing seven of her organs and pumping her body with chemotherapy was successful.
“I’m so lucky that my diagnosis has been fully treated and a recurrence is unlikely,” Davies said.
Davies started the new year with a cancer-free status, and Beckett points to his wife’s physical and mental fortitude along with experts at the hospital for credit. Apparently, the operation is so specialized that it is only performed at two hospitals in the United Kingdom, according to Beckett.
“With Jackie’s bravery and superhuman powers of recovery and Christie’s care, we were so lucky to celebrate this Christmas with our family, cancer-free and 90 per cent of the way back to full health,” Beckett said.
Now, Beckett is on a mission to take on a 600-mile bike ride across Europe over the course of six days to raise money for the hospital that provided the life-saving treatment for his wife.
“I cannot thank Christies enough for saving Jackie’s life,” Beckett said. “I couldn’t be prouder of her and have no way of properly repaying the awe-inspiring team at The Christie.
“Ultimately we want to cure this disease.”
How to Find Help After a Rare Cancer Diagnosis
Tens of thousands of people, like Jackie, are diagnosed with rare types of cancer every year. And people facing an uncommon diagnosis may find it difficult to find someone who specializes in their illness. Here’s what our SurvivorNet experts say about ways that patients can find helpful resources and get the help they need.
Clinicaltrials.gov
Clinicaltrials.gov is a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world. It can be a particularly useful resource for cancer patients with rare conditions as a tool for finding doctors who are experts on their diseases.
Clinical Trials Can be Life-Saving for Some
Often, the most specialized doctors in a specific field end up leading clinical trials that push our understanding of diseases forward. By searching your disease on Clinicaltrials.gov, you can find the names of doctors leading these kinds of studies. This tool can help you identify the doctors who are best-qualified to help you.
For example, Jackie battled a rare form of cancer called pseudomyxoma peritonei. Pseudomyxoma Peritonei is a rare disease characterized by the presence of mucin (a type of protein) in the abdominal (peritoneal) cavity. The most common cause of PMP is appendix cancer which rang true in the case of Jackie but several types of tumors (including non-cancerous tumors) can cause PMP as well.
Searching this disease on Clinicaltrials.gov generates a list of 28 clinical trials, 11 of which are actively recruiting participants. In each study, 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.
Academic Centers and Comprehensive Care Centers
For many cancer fighters, community oncology can be a great treatment resource. People with rare cancers, however, may require specialized evaluation. Often, the most effective place to find a specialist is at academic centers and comprehensive care centers.
SurvivorNet previously spoke with Dr. Kenneth Miller of Mount Sinai Hospital about 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 explained 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."
Newly-Developed Drugs
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.
Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may 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 been approved for.
The "Right to Try" Controversy: When Should People be Given Experimental Drugs?
Contributing: Joe Kerwin
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