Lori Wiener with patients
Lori Wiener, PhD, director of the Psychosocial Support and Research Program in the pediatric oncology branch of the National Cancer Institute’s Center for Cancer Research, plays a game with young people with cancer at the National Institutes of Health (NIH) headquarters in Bethesda, Maryland. (Photo courtesy of NIH)

It is hard enough, at any age, to have a rare cancer without a definitive cure. It’s even harder when you’re a teenager or young adult with your whole life ahead of you—and are uncertain what comes next.

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Facing those specific challenges will be the topic of a session taking place on Rare Disease Day 2023 at the National Institutes of Health (NIH) in Bethesda, Maryland. Since 2008, that special day has been celebrated annually on February 28, or February 29 in leap years—the rarest day of all—in an effort to improve life for the estimated 300 million people worldwide who are living with a rare disease.

The National Cancer Institute (NCI), a division of NIH, is sponsoring the daylong event, which will also be streamed online. Moderating the session, “Meeting the Needs of Adolescent and Young Adult (AYA) Rare Disease Patients,” will be Abby Sandler, PhD,  executive director of the My Pediatric and Adult Rare Tumor (MyPART) Network.

The session includes 3 panelists:

  • Hilary Gan, director of hospital programs and services at Teen Cancer America
  • Alison Silberman, CEO of Stupid Cancer
  • Lori Wiener, PhD, director of the Psychosocial Support and Research Program in the pediatric oncology branch of NCI’s Center for Cancer Research.

Dr. Sandler told Rare Disease Advisor that AYAs—those from age 13 to 39—don’t fit neatly into either a pediatric or adult medical setting. This can lead to delayed diagnosis or even misdiagnosis.

“I work mostly in the rare cancer space, but lot of these issues are more broadly applicable to AYAs with other rare diseases as well,” she said. “Older adolescents or very young adults may be at that stage where they’re trying to transition from parents basically making the medical decisions to them making their own.”

She added: “They have concerns about school, about work, and about the long-term effects of treatment, which are very real. In that way, having a cancer as an AYA isn’t that different than having a rare disease for life, because cancer doesn’t end when treatment ends.”

The recent pandemic heightened such concerns, as COVID-19 spread rapidly throughout the world and cancer patients of all ages found themselves particularly vulnerable to infection.

“The considerations for AYA cancer patients might be slightly different than for those facing other rare diseases, thinking of AYAs going through treatment who become immunosuppressed because of their treatment. That’s a special worry when you have something as contagious as COVID going around,” Dr. Sandler said. “For a population that already is somewhat isolated, it can only make things worse.”

Abby Sandler, PhD,  executive director of the My Pediatric and Adult Rare Tumor (MyPART) Network. (Photo courtesy of the National Institutes of Health)

Beyond treatment itself, other considerations include infertility, neuropathy, cardiotoxicity, kidney toxicity, and psychosocial issues.

“These patients have been neglected in the past,” said Dr. Sandler, who works in the pediatric oncology branch at NCI’s Center for Cancer Research. “They are definitely underrepresented in clinical trials—certainly in the cancer space—for a number of reasons. It’s a population that needs greater focus, and they have great needs.”

More than 11,000 AYAs die from cancer each year in the United States, but end-of-life planning is still a very delicate subject, Dr. Wiener said.

“What if I never get better? Will I die? How will I die? Where will I die? How will I be remembered? A lot of those ‘what-ifs’ are confronted by adolescents and young adults when they’re diagnosed with advanced disease,” she said in a phone interview. “They’re living with a tremendous sense of uncertainty. I wondered whether having a document created by and for people their age would be useful in case treatment doesn’t go well. I did several focus groups, and overwhelmingly, people felt that would be useful.”

The result is a new advanced planning tool called Voicing My Choices, which Dr. Wiener will discuss at length during the NIH session.

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Some rare cancers tend to specifically target adolescents or young adults. These include fibrolamellar carcinoma—a rare type of liver cancer—and diffuse intrinsic pontine glioma (DIPG), a fatal, incurable type of brain tumor that rarely occurs in people over 21.

“Most 22-year-olds don’t have cancer,” Dr. Sandler said. “That feeling of isolation is real because it’s something that is not shared by most people in this vastly sized population of people this age.”

On the other hand, leukemia treatment has been a dramatic success story, with 90% of leukemias now curable thanks to the development of effective chemotherapies.

“I wish I could say we’ve made the same progress for other cancers that affect young people. The 5-year survival rate for sarcomas haven’t changed much for decades, nor have treatments,” she said.

“We would love to be able to do, for some of these solid tumors, what’s been done for the leukemias. And even after treatment ends, there are those long effects of treatment. The focus is on treating that disease, but it leads to a whole bunch of other problems that stay with survivors for life.”