NIH Record - National Institutes of Health

Rare Disease Day Inspires, Offers Resources and Hope

Moon and Rutter smile in the halls of Natcher Conference Center during a break in the day's events.
NCATS Director Dr. Joni Rutter (r) poses with Grace Moon of Mitre, a non-profit that supports NIH and other federal health projects.

Photo:  NCATS

People with rare diseases and their loved ones, clinicians, researchers and patient advocates were among the more than 2,000 participants in this year’s Rare Disease Day at NIH on Feb. 28. The Natcher Conference Center was abuzz with hundreds of in-person attendees while many more tuned in via videocast for the hybrid event, co-sponsored by the National Center for Advancing Translational Sciences (NCATS) and the Clinical Center. 

The day’s sessions expounded on rare disease clinical research and resources as well as ways to improve the patient experience. Several panels focused on an often-underserved population in the rare disease world—adolescents and young adults. 

During welcoming remarks, Clinical Center CEO Dr. James Gilman said, “This is a day when the head acquires new information and knowledge. It’s also a day when the heart renews hope and finds sources of new inspiration.”

Campbell, smiling, speaks at podium.
Aisha Dubose Campbell (l), director of resident services and family programming at the Children’s Inn, describes resources for young patients who stay at the inn, many of whom are adolescents and young adults.

Photo:  NCATS

A rare disease is one that affects fewer than 200,000 people in the U.S. There are more than 10,000 different rare diseases affecting more than 30 million people nationwide and more than 350 million people worldwide. Most rare diseases have few if any effective treatments.

Critical to finding new therapies is securing science funding, an effort driven by a cadre of bipartisan policymakers and legislators who support the research. Several members of the Rare Disease Congressional Caucus delivered virtual remarks, voicing their support for continued research to find new therapies for rare ailments.

“This day is about pausing to remember loved ones we’ve lost,” said NCATS Director Dr. Joni Rutter, “to celebrate the big and small wins, to support those who work tirelessly in caring for people with rare diseases, to honor all people with a rare disease and recognize that struggle, and to hear about new ideas and projects that spell hope.”

Treatments on the Horizon

Three attendees stand chatting by All of Us information table in the hallway in Natcher.
Event participants gather to chat near the All of Us Research Program table.

Photo:  Credit NCATS

Most rare diseases emerge from a single gene variant, “so gene therapy is potentially a powerful approach for treating a wide range of rare diseases, including those viewed as too rare for commercial development,” said Dr. Lawrence Tabak, performing the duties of NIH director.

He outlined several initiatives—the Accelerating Medicines Partnership-Bespoke Gene Therapy Consortium, the Somatic Cell Genome Editing program and the Platform Vector Gene Therapy project—all underway at NIH to help speed development of new gene therapies. NCATS plays a leadership role in each of these initiatives.

Rutter noted that NCATS is developing platform-based technologies to enable more treatments to reach patients faster. And more help is on the way. 

The Food and Drug Administration (FDA) is gearing up for a pilot program to authorize therapeutics that show promise. “This idea will allow faster clinical development with more real-time FDA-sponsored communications, which can ultimately move products as fast as possible through the regulatory pipeline,” said Rutter. 

Improving the AYA Patient Experience

Gan projected on a big screen above the two seated panelists and moderator in Kirschstein Auditorium.
In this hybrid panel, Hilary Gan of Teen Cancer America is projected on screen from Los Angeles, while moderator Dr. Abby Sandler (l) of MyPART, Dr. Lori Wiener (c) of NCI and Alison Silberman of Stupid Cancer participate in Kirschstein Auditorium.

Photo:  NCATS

Several panels were devoted to the challenges and needs of adolescents and young adults (AYAs)—those 15-39 years old—living with rare diseases. One panel focused on the needs of AYAs with cancer. 

“This age group had not seen improvement in survival of older and younger cancer patients in almost 30 years. Luckily, that is changing,” said Hilary Gan, director of hospital programs and services at Teen Cancer America, who spoke virtually from Los Angeles.   

But difficulties remain and likely resonate among AYAs with any rare disease. AYAs don’t fit into the current health system, which is set up for children and adults. AYAs fall somewhere in between. 

“They need age-specific, appropriate, targeted support even after they leave the hospital to address their unique challenges,” said Alison Silberman, CEO of Stupid Cancer, a national non-profit that offers resources and community-building programs. 

For AYAs who have gone through treatment, long-term side effects affect their physical, emotional and social well-being, noted Gan. AYAs need financial counseling and assistance; educational, occupational and psychosocial support; fertility counseling; and more targeted clinical research.  

For adolescents with a rare disease, instead of thinking about fun teen stuff—friends, romance, graduation—they’re thinking about treatment and survival. They’re also thinking about mortality.

Wiener sits on stage, holding microphone.
Wiener (l) of NCI’s Pediatric Oncology Branch participates in a Q&A.

Photo:  NCATS

It’s one of the hardest conversations but AYA cancer patients should discuss their end-of-life preferences and wishes with family members and health care providers. Often, though, AYAs and their guardians don’t know how or when to broach the topic.

“We know adolescents have preferences for what they want and don’t want,” said Dr. Lori Wiener, director of the Psychosocial Support and Research Program in NCI’s Pediatric Oncology Branch. 

After conducting a series of focus groups and a study that included participants at NCI and Georgetown, a resource was created for AYAs to facilitate communication about preferences for how they would like to be supported and comforted if they become seriously or terminally ill. That guide, Voicing My CHOiCES, also covers issues of identity, spirituality, autonomy and commemoration. It was published in multiple languages and has been requested in 42 countries. 

“Perhaps the most important finding from a follow-up study at seven U.S. cancer centers was that anxiety around end-of-life planning decreased significantly immediately after [AYAs and their families] reviewed the document and a month later,” Wiener said. Follow-up has confirmed AYAs want to discuss end-of-life preferences and reap benefit from those conversations.

Transitioning to Adult Care

Holmes stands at podium, hands clasped, speaking into microphone as Harding stands beside her.
Brittany Holmes shares her perspective as both a rare disease patient and nurse practioner, as Dr. Cary Harding looks on.

Photo:  Credit NCATS

Many rare diseases start in childhood and require specialty care throughout the person’s life. Two speakers shared their thoughts from a provider and patient perspective.

There are few adult-focused centers for rare diseases, particularly those that start in childhood, said Dr. Cary Harding, a pediatric specialist at a hospital in Oregon.

“I as a pediatrician, even though I’m trained as a geneticist and that handles the lifespan, don’t understand a lot of adult-onset disease,” he said. And since his main connections are in pediatrics, he struggles to find adult-specific resources for pediatric patients when they become adults. 

Brittany Holmes is a nurse practitioner in a free-standing pediatric hospital—Boston Children’s—that does not have adult providers. Even if she had access to other local hospitals, that hospital might not be equipped with a rare disease specialist able to care for these patients.

Helping AYAs transition is a twisty journey of tracking down referrals and support services with little guidance in what often becomes fragmented care at multiple centers, frustrating patient and provider alike. 

Holmes is both a provider and a rare disease patient. She can see both sides. 

“I remember being a little afraid [of going to an adult-focused center],” she shared. “I was treated at the same place since I was born. I trusted the health care team I had; starting over sounded scary.”

A collaborative approach is needed, Holmes said, to improve AYA protocols and guidelines. Expand options and resources, and continue research to broaden treatment choices, she urged.

As the Clinical Center continues to improve resources and emergency response capabilities for patients of all ages, Gilman acknowledged the many players in the rare disease landscape—scientists and clinicians; patients and their families; advocacy organizations and policymakers. 

“Rare Disease Day is unique in that it brings all the components of this ecosystem into the same orbit,” he said. “It’s a reminder that none of us are in this work alone.” 

‘Not Smooth Sailing’

Patient with Rare Disease Navigates Becoming the Captain

Hauser stands smiling, talking into mic at podium
Abbey Hauser, rare disease patient and patient advocate

“My first memory of rare disease is one filled with fear and uncertainty,” said Abbey Hauser, a young adult rare disease patient and advocate, who shared her story during NIH’s Rare Disease Day.

When Hauser was six years old, she dislocated her knee while playing with toys in bed. Her family was outside having a yard sale; at first, nobody heard her screams. 

“Unfortunately, it would not be the last time I’d feel alone or experience fear or uncertainty [which I would for many years] in relation to my medical care and diagnosis of Classical Ehlers-Danlos Syndrome,” she said.

Hauser grew up in Minnesota—the land of 10,000 lakes—where she was often around and on the water. Despite her EDS—a group of hereditary connective tissue disorders—she was a coxswain on the University of Minnesota rowing team. Hauser’s love of the water steered her toward the nautical theme for her lecture that day.

Hauser, seen from behind, leading two rowers in a boat on the lake
Coxswain Hauser (r) and her team in action

On her rare disease journey, she said, “I quickly learned from a young age that I was not the captain of this ship.” 

For young patients with rare disease, the transition from pediatric to adult care can be turbulent. Hauser likened rare disease to a boat. Everyone involved in the patient’s care has different roles to keep the boat afloat and functioning. The kid owns the boat but is not in charge, she noted. At age 18, the patient becomes the captain, regardless of whether they want or feel ready for that role.

“My rare disease boat was inefficiently run most of my childhood,” Hauser said. There was no one specialist coordinating her care and the chain of command was confusing. “I stayed afloat but it was not smooth sailing.”

The week after Hauser turned 18, she had surgery on the knee that started her rare disease journey. For all appointments leading up to the operation, she was a minor. Suddenly, she was the captain, signing documents and making decisions for herself in the adult wing of the hospital. 

“I became the captain officially at one of the most vulnerable times we can have as a human—right before surgery,” she said.

Hauser, smiling, wearing forearm crutches, running in a marathon
Hauser completes the Chicago Marathon in 2018.

During recovery, Hauser wanted to become a better captain. She used her new legal powers to request all of her childhood medical records from the various institutions involved in her care. 

She had seen many specialists over the years. “My transition had consisted of waiting until I had symptoms that became intolerable enough to seek out care,” she said. She would then randomly pick a specialist from a web search and start the process all over again, repeatedly explaining her condition, sometimes receiving blank stares when calling it by name. 

Hauser offered several suggestions to help spare other young people from such a rocky transition. “We need coordinated clinics helping pediatric patients find adult care or support,” she said. From the time of diagnosis, educate patients early and often on the condition. And, she advised, parents should follow the child’s lead during the transition.

“We can help the kids of the future become strong leaders in their care.”

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