The transition from child to adult care must start early with education, pediatric neurologist emphasizes

Navigating from child to young adult can be very challenging in the best of circumstances.

Add a chronic or rare medical condition to the journey, and the process can get very scary.

Teens with chronic conditions face a higher risk of non-adherence to taking their medication or even obtaining it when transitioning from a pediatric to adult primary care provider, medical experts say. And statistically, the chance of them having to be admitted into an ER or have surgery increases, as does the prospect of them dropping out of treatment – which could have fatal results.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute and a pediatric neurologist who specializes in epilepsy and rare conditions, stressed in a recent webinar that she’s passionate about preventing patients transitioning to adult care from falling through the cracks.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute

“We begin with introducing the concept of transitioning to adult care when our patients are 12 years old,” Dr. Zupanc said while speaking on a four-person panel hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

The topic of the 50-minute discussion on Sept. 24, 2020 was “Navigating the Transition of Care for Young Adult Patients.”

In addition to her position at CHOC and as a faculty member at UC Irvine, Dr. Zupanc sits on the board of directors of the Child Neurology Foundation (CNF) in Minneapolis, Minn. On its website, the CNF details several resources about transitioning to adult care.

“We at CHOC have followed the CNF’s template to develop a formal transitioning program here,” Dr. Zupanc said.

Starting the conversation with families when a patient is 12 years old may seem too early, Dr. Zupanc said. But transitioning is a process that doesn’t have a one-size-fits-all solution, and it’s critical to start the discussion when patients are young.

The other panelists agreed. They were Dr. Leah Ratner, a fellow at Brigham and Women’s Hospital in Boston; Sneha Dave, 22, a student at Indiana University who since age 6 has lived with ulcerative colitis; and moderator Amy Ohmer, director of the International Children’s Advisory Network in Marietta, Ga., and the mother of two daughters, ages 17 and 19, who have chronic and rare conditions.

“I think it’s important to introduce the concept (of transitioning) early – to let the parents and patient know, ‘We’re not just going to throw you out,’” Dr. Zupanc said. “Rather, ‘We’re going to work with you so you can learn to self-manage your disease and your medications. And we’re going to go over your plan on a yearly or bi-annual basis.’”

Under the transitioning plan adopted by CHOC thanks to a grant, a healthcare transition program is initiated when patients turn 12 years of age.

Clinicians, social workers, and others continue to prepare their patients and their families for increased independence and management of their care, as well as to the adult model of care, Dr. Zupanc explained.

The actual transition to adult care varies from 18 to 22 years of age—often dependent on insurance—and ideally occurs in stages, as these young adults may have multiple subspecialists. Between the ages of 23 and 26 years, the young adults are integrated into adult care.

“It’s a partnership,” Dr. Zupanc said. “It takes a community.”

Sneha, the Indiana University student, said the transition must go slow because there are so many components to it, such as having to navigate health insurance.

“Young adults diagnosed with a condition at childhood tend not to be as prepared because their parents or guardians took care of everything and they had no ownership of their own care,” Sneha said.

When she was a freshman, Sneha founded the Health Advocacy Summit, which empowers young adults with chronic and rare diseases through advocacy events and programs. In August 2020, the organization hosted an international virtual summit.

“It’s a process,” Dr. Zupanc agreed of transitioning to adult care. “And I think it’s a process of self-empowerment. Most parents are used to taking care of everything. We try to empower our teenager and young adults as much as possible. Parents have to let go at some point, but it’s a process.”

The bulk of Dr. Zupanc’s patients have severe epilepsy that started in infancy. A high percentage also have intellectual disabilities.

“Sometimes they take a step forward and two steps back,” she said.

The path toward a successful transition to adult care begins with knowledge, she explained, followed by support, confidence and, finally, independence.

Dr. Zupanc noted that patients who leave CHOC are welcomed to stay in touch.

“As a pediatric provider for children with rare diseases,” she said, “I let my families and adolescents know that I have their backs and that I’m not going to let them fall into the abyss. If there are issues, I’m here to help them.”

November is epilepsy awareness month. To learn more about CHOC’s Comprehensive Epilepsy Program, click here.

Pandemic has provided lessons on continuing research during a crisis

COVID-19 has been a tragic wrecking ball on several fronts, but something that isn’t mentioned much is clinical research.

Long a linchpin at CHOC and, moving forward, poised to become even more central as CHOC evolves into a leading pediatric health system, clinical research has had to quickly readjust under the strain of the pandemic.

But out of these dark days have emerged several lessons on not only how to continue research during a crisis, but how to keep it thriving.

That was a key message delivered by Phuong Dao, director of Research Operations at CHOC, during a recent webinar beamed around the country.

Phuong Dao, director of research operations at CHOC

“There’s a renewed sense of energy and purpose to use science to solve problems that are important to our patients and the public,” Phuong said during a panel discussion that was part of a two-week summit on rare diseases hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

“I think we can really harness and leverage this shared renewed energy and translate that to the conducting of rare-disease trials,” Phuong said.

The panel, speaking on “Proactive Planning for Continuity of Research During a Crisis,” also featured moderator Nina Wachsman, founder and president of Augur Health, a New York-based clinical research recruitment firm, and Gerald Mosely, founder and principal of CP&P Development, a Sacramento-based specialty consulting firm focused on pharmaceutical sales and operations.

Wachsman laid out some realities hospitals face during COVID-19:

  • Less access to doctors and inpatient visits
  • Less interest in research into rare diseases
  • An explosion in telehealth visits
  • E-signatures for informed consent
  • Nurse home visits
  • Lab tests done remotely

As for clinical research, Wachsman said, challenges include a lack of available capital, a lack of access to enough clinical trial participants and the ability to retain them, and getting the attention of the FDA at a time when COVID-related studies dominate.

And in a world of virtual meetings, Mosely noted, effective teamwork can be a challenge.

“The people aspect is what can make or break things,” Mosely said. “Successful outcomes can be affected more by interpersonal than technical skills.”

But bright spots abound, Phuong said.

COVID-19 studies can serve as a template for clinical research well beyond the end of the pandemic. “We have seen study teams form quickly and multi-disciplinary teams mobilize,” she said.

The contracting and budgeting processes for COVID-19 studies have accelerated and teams involved in “master trial protocol” studies involving multiple hospitals have readily shared resources, when in the past there were more hurdles.

“This focus on leaner and faster clinical trials can be leveraged in the rare disease space as well,” Phuong said.

Other positive changes introduced during the pandemic that can affect all clinical trials moving forward include:

  • Fast tracking by the Institutional Review Board (IRB)
  • The acceptability, and patient popularity, of telehealth
  • Home-based testing and monitoring technologies
  • Curbside/courier pick-up and delivery of participant samples and investigational products
  • Digital data collecting tools
  • Remote Site Initiation Visits (SIVs) and monitoring
  • Less reliance of participants having to be on site

Phuong noted that clinical trials involving kids impact entire families, one of the things that makes pediatric research different from studies involving adults.

The consenting process is unique, she added, and some teenagers who still are minors sometimes have a different opinion from their parents when it comes to treatment plans.

Moving forward with telehealth, Phuong said, clinicians need to think about how to engage with study participants in the languages they understand best.

And there are other questions that need to be addressed, including:

  • How research should be structured to adapt to new realities
  • How to keep motivation high to conduct clinical studies into rare diseases
  • How virtual meetings and healthcare visits affect productivity

“I hope that we sustain the gains we have made to move toward more efficiently and that we are able to approach clinical research in ways that are more streamlined and modernized,” Phuong said.

To learn more about CHOC’s Research Institute, click here.

Artificial intelligence seen as critical tool in helping to diagnose rare diseases

Machine learning algorithms could make a dramatic difference when it comes to diagnosing children with rare diseases, two CHOC Children’s doctors said in a recent webinar.

Although the use of artificial intelligence (AI) in diagnosing medical conditions is in its infancy stages, the potential is huge, said Dr. Jose Abdenur and Dr. Terence Sanger, speaking on a panel during a two-week summit on rare diseases hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

“Human decision making is very, very good,” said Dr. Sanger, vice president for research and chief scientific officer at CHOC. “But we’re not very good at incorporating tens of thousands of pieces of information into making these decisions.”

That’s where machine learning could be of immense value, he and Dr. Abdenur said in the one-hour discussion on Sept. 22, which can be viewed in its entirety here.

Machine learning involves the use of computer algorithms that improve automatically by building mathematical models based on reams of data. This makes AI particularly valuable for improving the rare disease diagnosis process, which remains far from perfect, says Abdenur, chief of the division of metabolic disorders at CHOC and director of CHOC’s metabolic laboratory.

Although great strides are being made in diagnosing rare diseases through such processes as rapid whole genome sequencing, 40 percent of families with sick children still do not have diagnoses, Dr. Abdenur said.

“We’re doing better, but we’re definitely not good enough,” he said. “We hope in the future that artificial intelligence and machine learning will help us (reach diagnoses faster).”

In diagnosing patients, clinicians consider a list of possible conditions or diseases that could be causing symptoms – what’s known as making a differential diagnosis. They consider such things as a patient’s symptoms, his or her medical history, basic lab results, and a physical examination.

With AI, a virtually limitless amount of information beyond that – such as similar symptoms that have occurred in patients around the world, the environment they live in, etc. – could be factored into helping make differential diagnoses.

Dr. Sanger compared the benefits of using AI in diagnosing patients to a standard camera – what’s used now – to a wide-angel lens that can take in much more information, which machine learning would provide.

“If you have an avalanche of information, (physicians) can’t take all of it in themselves,” Dr. Abdenur noted.

But a sophisticated machine-learning program could, he and other panelists said.

An algorithm that gets smarter over time would lead to faster, simpler, accurate, and earlier diagnoses, said panel member Annastasiah Mhaka, co-founder of the Alliance for AI in Healthcare.

“Data is at the heart of (learning more about rare childhood diseases), and AI would help along every step of the way,” said another panelist, Sebastien Lefebvre, an analyst with Alexion Pharmaceuticals.

Both Dr. Abdenur and Dr. Sanger agreed that AI could be used to augment a clinician’s decision, but never replace it.

“(AI) never makes a decision for you,” Sanger said. “It just assists in the decision making.”

Newly emerging technologies such as machine learning in healthcare could lead to lower healthcare costs and better treatment, Mhaka said.

“Diagnosis needs are huge and unmet in the (rare disease) population,” she noted.

Learn more about rare disease research at CHOC.