Leah Christoforidis was pregnant with her fourth child when she began feeling pain in her lower back.
Her doctor initially figured it was a muscle tear, but something told Christoforidis that wasn’t right, and she successfully advocated for an ultrasound.
A few weeks later, Christoforidis faced a new kidney cancer diagnosis instead of a routine injury. But even this wasn’t the end of the surprises.
A rare diagnosis
When Christoforidis’ tumor was sent for molecular testing, it was revealed that what was initially thought to be a common kidney cancer was actually a rare type called translocation renal cell carcinoma (tRCC).
Christoforidis struggled with the new information. She now had a definite diagnosis, but it had taken 18 long months.
The answer also left her with more questions.
“That was the most difficult part for me,” she recalls. “Not knowing what was going to work and not having resources.”
She worried about the future of her family, and despite the support of her friends and family, she felt isolated.
“How many kids in kindergarten are dealing with a parent with a stage four kidney cancer diagnosis?” She remembers thinking.
Casting about for answers, she left her home in Chicago to visit Dana-Farber where, crucially, she found caring experts — but she also found a new purpose in a new initiative called Count Me In.
An unmet need
According to Srinivas Viswanathan, MD, PhD, her genitourinary oncologist at Dana-Farber, a delay in diagnosis isn’t unusual for tRCC cases. Under a microscope, tRCC is easily mistaken for other kidney cancers and can only be diagnosed through molecular testing which can identify the “translocation” that characterizes the cancer.
This is exacerbated by the fact that tRCC typically affects younger patients like Christoforidis more than other kidney cancers, which often delays diagnosis since neither physicians nor patients may be suspecting cancer.
The challenges don’t end with diagnosis. Because tRCC is molecularly different from other kidney cancers, the typical treatments don’t work as well in combating it, and there are no treatments that specifically target tRCC.
“It’s a major unmet need in cancer research,” Viswanathan says.
Because the cancer so is rare, researchers have struggled to find enough cases for a large genomic study. People like Christoforidis travel from all over the world to be seen at a cancer center like Dana-Farber, but tRCC remains too rare for a single institution to run a large biological trial.
Working with cancer researchers across the nation in a partnership with the Broad Institute, Dana-Farber hopes to solve this through Count Me In, an initiative which enables patients to confidentially share their clinical data and experiences and allow their tumor samples to be profiled genetically.
After it is de-identified, this information is stored in a database available to researchers like Viswanathan across the nation. Pooling this data, physicians hope to overcome the primary challenge in studying tRCC – its low prevalence – to perform crucial research that leads to better outcomes for patients.
The tRCC Count Me In project, co-led by Dana-Farber/Boston Children’s Cancer and Blood Disorder’s Center pediatric oncologist Elizabeth Mullen, MD, FAAP, will be one of the first to be open to children, providing insight into how this cancer effects pediatric patients.
“Broad collaboration for progress in pediatric renal cancer is crucial, as the overall rarity presents challenges to needed progress,” says Mullen. “Although tRCC is the most common sub-type of pediatric RCC, current therapy options are inadequate for our patients. The Count Me In initiative is a powerful opportunity to improve understanding and treatment for children and young adults with this rare cancer.”
“The Count Me In project will allow us to understand the biology of tRCC, how it’s different from other cancers, and enable us to develop better treatments,” Viswanathan adds.
Taking part has given Christoforidis a feeling of purpose. Her advocacy has connected her with a community of patients in similar circumstances. It is now five years since her diagnosis, and she is optimistic.
“Count Me In inspires hope,” she says. “It feels like things are changing.”