Ashley Young knew her son Michael (a pseudonym) was different as soon as he was born. Not only was he small, but he also struggled to suckle and suffered from severe acid reflux.
When he was a toddler, local doctors in Asheville diagnosed him with cerebral palsy, a neurological disease that affects movement and is the leading cause of childhood disability in the United States, according to the National Institutes of Health. The diagnosis, however, never sat right with Young.
In 2019, Michael’s neurologist told Young about the Undiagnosed Diseases Network, a National Institutes of Health research study that works to identify and develop treatments for the most mysterious and rare medical conditions.
She immediately sent in an application for Michael, who was accepted and examined in Durham at Duke University Medical Center, one of 12 UDN sites across the country, in September of that year.
Tests revealed that Michael has a genetic disorder so rare it does not even have a name yet. According to his genetics counselor Rebecca Spillmann, only about 40 are known cases worldwide.
To treat his multiple intellectual and developmental disabilities, Michael has an extensive care team, most of whom are at Duke. The team includes a physiatrist, or muscle doctor; nephrologist; endocrinologist; cardiologist; developmental doctor who also serves as his neurologist; psychiatrist; and a genetic counselor.
And most of the time, they see him via telehealth.
“Telehealth has been a great asset to us,” Young said. It allows Michael’s doctors to follow up on him without the nearly 200-mile trip to Durham, a journey that Michael finds very distressing.
Thanks to telehealth, Young has even spoken to the physician at Mount Sinai in New York City who researches the gene variant related to her son’s disorder.
Children like Michael are some of the most vulnerable patients in Western North Carolina, and telehealth allows him to live in his own community while receiving the medical care he needs.
Digital tools beyond telehealth
Telehealth is not the only aspect of modern health care that takes place online.
Digital health, according to the United States Food and Drug Administration, refers to a variety of technologies that includes telehealth but also goes beyond it.
Mobile apps and wearable technology allow patients to track data like sleep quality, heart rate and blood sugar. Online portals let patients view records and test results, communicate with providers, and request medication refills. Medicare’s online cost estimators and review sites provide procedure prices and information about nurse-to-patient ratios and any complaints filed against facilities.
These tools are especially helpful for seniors, who have more chronic conditions than any other age demographic. According to the National Council on Aging, 95% of Americans 60 and older have at least one chronic condition, with 80% having two or more.
“They want to access the internet to get their information,” said Asheville-based nurse and patient advocate Karen Sanders.
Since 2017, she has taught digital health to hundreds of seniors through her course Becoming an Informed Consumer Advocate for Your Own Healthcare at the Osher Lifelong Learning Institute at the University of North Carolina at Asheville.
But without high-speed internet, a capable device and digital literacy, the chronically ill can struggle to manage their health in this telemedical world.
“I have seniors using flip phones,” Sanders said. “I have seniors with a computer that’s [from] 2015, so their processing speed is extremely low. And they don’t type. So it’s just one difficulty after another.”
Finding his voice
Even before telehealth became a fixture in Michael’s life, his iPad was a crucial means of communication for him and his mother. Because of the severity of his condition, Michael was placed in an in-person institution at the age of 12.
Located on the coast, it was a seven-hour drive away from Young’s home in South Asheville. When COVID-19 hit, she wasn’t allowed to visit for about six months.
“I went significant periods of time without being able to see him, so that was definitely hard,” she said. Even though Young has good internet service, she noticed a difference in speeds during early lockdowns.
“Even with phone service, you could definitely tell there was a lag,” she said.
In 2021, however, Michael received an Innovations waiver, which provides home- and community-based services to those with IDDs so that they can live outside of closed institutions. He now lives in an alternative family living group home in McDowell County, where he receives the 24-hour-care that he requires, including assistance with eating and bathing.
“It has helped significantly in supporting [Michael] to being able to live in the community as he deserves to,” Young said. “I’m very grateful for it.” He frequently comes home to visit, and Young also goes there, especially when he has telehealth appointments.
“We really didn’t utilize telehealth at all until the pandemic,” said genetics counselor Spillmann, despite serving patients who live across North Carolina, as well as South Carolina and southern Virginia. Spillmann’s role is to gather UDN patients’ medical records, compile their family history, explain the purpose of the genetic testing and also provide emotional support if difficult emotions arise.
“I get to really get in deep with these families and form really close relationships with them,” she said. “I’ve been working with some families for six or seven years now.”
When the pandemic hit, Spillmann and others at the UDN worried that the rapport they built by seeing patients and their families in person would not translate to telehealth.
“We have found that not to be a concern at all,” she said. “And telehealth has really been … a godsend for us and for these families.”
In fact, both Young and Spillmann said Michael’s appointments go more smoothly because he can stay at home. As Young said, “they are able to see [Michael] in his natural environment where he’s comfortable,” giving a more accurate picture of how he is on a regular basis.
“I don’t have my child sitting there upset and agitated or anxious,” she said.
“Telehealth overcomes the barrier of travel, the associated costs, needing to take time off and [arrange] child care for other children in the family,” said Dr. Vandana Shashi, a pediatrician and clinical geneticist at Duke who helped diagnose Michael.
Not only can children and adults with rare genetic disorders consult with their care team over telehealth, but they can also provide genetic samples remotely. Local labs like the Fullerton Genetics Center in Asheville can collect samples and send them to Duke for testing.
For all of telehealth’s benefits, both Shashi and Spillmann have encountered crucial barriers for their families.
Some have poor internet connections and poor cameras — issues that are most important for families who have not yet been able to come to Duke. To get a better picture of their patients, Shashi and Spillmann have had to ask parents to hold up their children’s limbs, place cameras next to their ears and other manipulations.
When internet or device quality is not ideal, the amount of information the geneticists can glean from these situations is not ideal.
However, the UDN recently moved into what Spillmann describes as phase three of its mission, which includes identifying underserved areas and finding ways to better engage families in those locations.
“We are missing patients from Appalachia,” she said, mainly because of the difficulties taking time off work to make the journey.
“If we can get telehealth to be a viable option for these families and make them aware of it, we feel like we can see our application numbers and our numbers of accepted patients from that area increase.”
Since Michael has moved to the AFL, he has thrived, his mother says. Though he is primarily non-verbal, he has been speaking more since the transition.
He goes to a local McDowell County middle school, mixing with his peers. Young gets emotional when she talks about his progress. “Seeing my kid excited, laughing, telling me, ‘You funny,’” she said, “it’s great to see.”
Supporting seniors online
It’s not only the young who develop rare illnesses. Recently, a friend of 81-year-old Bob Webb contracted a rare form of neuropathy, or nerve damage.
“His local doctors did not know what to do or how to deal with it,” Webb said. “But then we got on the internet and began searching and found that there is a specialist in Wake Forest.”
After the friend received treatment there, Webb helped him find a rehab facility with at least a four-star rating using Medicare’s online ratings tool.
Webb knew how to do all of this because he and his wife, Joanne, took Sanders’ patient advocate course twice. “Asheville is very fortunate to have Karen Sanders here,” he said.
Webb’s use of the internet to research on his friend’s rare condition and compare rehab facilities covers two of the six major reasons seniors go online for health information, according to Sanders.
The other four are: to find normal ranges for common lab tests, to estimate hospital procedure costs, to procure or refill medications, and to access patient portals.
However, seniors also access digital health in other ways. Jan Nickerson, a 74-year-old resident of Candler in Buncombe County, tracks her sleep health with her FitBit and uses the Keto-Mojo and Renpho apps to record her glucose, weight and other health information.
“When I hear telehealth, the image [that] comes to my mind is … talking to a health care professional online,” she said. “It’s so much more than that.”
Nickerson has even found doctors using the tools Sanders has taught her. She first looks up physician ratings using the Healthgrades website and then asks members of a local elderly Facebook group to weigh in on her options.
“I hear the good, the bad, the ugly, and that helps me narrow down my search,” she said.
Nickerson found the course so helpful that she asked Sanders to give a condensed version to Nickerson’s peers at Pisgah Valley, which is a continuing care retirement community, or a facility that helps seniors age in place by combining independent and assisted living, and on-site health facilities.
Sanders was joined by Marc Czarnecki, a technology consultant who assists her with the technical aspects of her patient advocate business and often teaches the part of her course that focuses on technology.
“Mark opened up our eyes” about the quality of their internet connection, said Nickerson. He did a real-time internet speed test at Pisgah Valley’s community center and found that its upload speed was only 25 megabits per second.
While this speed is considered adequate according to current Federal Communications Commission standards, in November 2023 the commission announced an upcoming inquiry to review those standards, which FCC chairwoman Jessica Rosenworcel herself called “outdated.”
Nickerson subsequently approached Pisgah Valley’s administration with this information, and “they’ve promised us that they’re going to get an increase by the end of the year.”
Had Nickerson not advocated for it, however, Pisgah Valley’s internet speed would have stayed the same.
Overcoming telehealth obstacles
Through his business and work with the advocacy group WNC Broadband Project and Land of Sky regional council’s Mountain Area Workforce Development Board, Czarnecki has a lot of experience helping people overcome technology barriers in WNC.
When it comes to seniors, Czarnecki said, their struggles with technology often includes obstacles that most able-bodied people tend not to think about.
“The hardware itself can become a hindrance to the telehealth scenario,” he said as an example. He recently helped an older woman who had previously only used an external mouse learn how to use the touchpad on her laptop.
“She came to me and couldn’t figure out how to do a right click on her mouse, and right clicks are necessary,” he said.
For seniors who struggle to type on the virtual keyboards found on tablets and smartphones, Czarnecki, 61, encourages the use of voice-activated digital assistants such as Apple’s Siri and ChatGPT.
On his Zoom call with Carolina Public Press, Czarnecki demonstrated ChatGPT’s usefulness. “ChatGPT, I’ve got a slight cough, and I’m not sure if it’s the flu or COVID, or if I should see my doctor. What advice can you give me?” he asked.
The artificial intelligence system replied: “Mark, if you have a cough and are unsure whether it’s flu, COVID, or something else, it’s a good idea to see your doctor. They can provide a proper diagnosis and the best advice. In the meantime, rest up and take care of yourself. Stay hydrated and monitor any other symptoms you might have. Consider wearing a mask and practicing good hygiene to protect others just in case. Stay safe.”
“This ChatGPT voice to voice interaction is what I believe will benefit the seniors of the future,” Czarnecki said.
Though, he cautioned, “It’s a learning curve in itself.”
ChatGPT and other artificial intelligence programs also require both a device that can support the software and high-speed internet. Such technologies can be cost-prohibitive or unavailable for many seniors in WNC.
Empowering the most vulnerable
When asked whether all of the time spent using health trackers, ratings websites and other digital health tools felt like too much work, Nickerson strongly disagreed.
“It feels like it makes life easier, and it feels like it increases the odds of my getting what I want,” she said.
“As a senior, I spend so much more time on health care,” Nickerson added.
“A day doesn’t go by that either my husband or I have some health care event. Whether it’s a class or a doctor’s appointment, or following up on something, it just permeates our lives.” Applying the knowledge she learned in Sanders’s course, she said, helped make that process easier.
For Webb, digital health gives him a sense of empowerment.
“We always felt like we were the unknowing individuals going in to some person who wears a white coat, who supposedly knows everything,” he said.
Thanks to her course, he now uses an Excel spreadsheet to record daily readings of his blood sugar, blood pressure, and weight. “So when I walk into a doctor’s appointment before they ask me any questions, I give them my report card,” he said.
For Young and her son Michael, telehealth makes it possible for them to stay in Western North Carolina and still access all the care he needs. Being able to continue to live where she was born and raised, and where most of their family lives, is important for Young, Michael, and Michael’s older brother.
When Young shared her son’s story on various social media groups, she said, “a lot of feedback I got was, ‘Well, you should just move away.’ But I shouldn’t have to move away.”
“Telehealth has really been able to help these families be able to stay where they are in a community that they love,” Spillmann said.
She praised Young specifically for being such a great advocate not only for Michael but for others with rare diseases. When members of the UDN at Duke went to Raleigh in 2019 to ask for additional funding, Young was one of the few parents who came to share her and her son’s experience.
“She’s advocating for [Michael] but she knows there’s families out there that don’t have her wherewithal to know how to fight this fight. So she works for them as well.”
For Young, it’s quite simple: Michael has told her that all he wants is to be pain-free and have the best quality of life possible.
“We want him to be happy and healthy,” she said. “He deserves that.”
This article first appeared on Carolina Public Press and is republished here under a Creative Commons license.
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