Nine-year-old Ellie McGinn is in a race against time.
The Arlington, VA, girl has a very rare genetic disorder called LBSL that affects her brain and spinal cord. It mostly strikes children, slowly worsening their ability to walk, stand, and coordinate their movement.
Ellie’s beaten the odds so far. Six years ago, she was one of the first patients to try an experimental mix of antioxidants and amino acids that has kept her disease from getting worse.
Now, she’s the first patient in the world with LBSL to test new remote technology aimed at gathering key data about her life-threatening disease.
“We just want to be on the forefront of medicine, and with tests like this, we feel like we are. We’re putting in place all the steps we need to get to a cure,” says Ellie’s mother, Beth McGinn.
Ellie’s parents are working with doctors at the Kennedy Krieger Institute in Baltimore on research for new medicines that will hopefully lead to a cure before the fourth grader’s condition gets worse. So on a recent Tuesday after school, McGinn had one of her many appointments with her medical team.
But instead of traveling the hour and a half to the clinic, she came home from school, had a snack, tucked a pink stuffed bear under her arm, and shuffled over to the kitchen table to talk with her doctors via video chat.
The remote appointment kick-started a critical phase of research into Ellie’s disease. It involves collecting health data every 6 months on patients’ balance, walking ability, and more to understand the symptoms of the disorder and how it gets worse. When it comes to rare diseases, researchers have to first collect this data to understand the condition’s baseline so when they begin testing potential treatments, they'll know if it is causing improvements.
Since she had a bit of an upset stomach on this day, Ellie admitted it was a relief not to have to leave the house for the test. ‘It’s nice to be home,” she says with a shy smile.
“It can be tiring to go to the doctor,” Beth explains. “Plus it can be embarrassing there with lots of people watching you.”
Life With LBSL
When Ellie was 2 1/2 years old, she began showing symptoms of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation). Her parents knew something was wrong when she started falling and having leg spasms, poor balance, and hand tremors. She was diagnosed with LBSL at age 3.
“To hear that it was an incurable disease literally sucked the air out of my lungs, and I could feel my legs start to give out from underneath me,” Beth says.
LBSL is thought to affect only about 100 people worldwide, and it can be devastating. Like multiple sclerosis and Parkinson’s disease, it causes problems in the transmission of signals between the brain and body. It leads to abnormal muscle stiffness, trouble coordinating movements, and loss of the ability to sense the position of your arms and legs.
Six years after her diagnosis, Ellie is a big sister and attends school. But her disease already deeply impacts her life. She has tremors and weakness in her legs, and coordinating her arm and leg movements can be a lot of work, causing her to tire easily. In the last year, she has had more pain when trying to run, and her hand shakes when she feeds herself. She also has to wear a helmet at school during PE and recess because she is susceptible to severe complications from head trauma, including loss of consciousness, seizures, neurological problems, and high fever.
Ellie's family doesn't know exactly what's in store for Ellie. "Most of the people I talk to are in wheelchairs by their teens, and that is what doctors say will most likely happen," Beth says. "I have really struggled with this. I don't want her to lose her mobility. The fact that it could be brought on suddenly and is hard to predict makes it all even more difficult."
For the remote (or virtual) tests, a team of four is watching Ellie do these tests from home. But they’re only visible to her in a small window on a computer screen that sits on her kitchen table, like you see through video chat apps like Skype or FaceTime.
The system the researchers provided uses wearable movement-sensing devices that look like Fitbits or Apple Watches. One is attached to each of Ellie’s feet, and a third goes on the small of her back to collect and store data on her body movements.
It also includes a webcam and laptop allowing for video chat. The laptop can be controlled remotely by the research team in Baltimore in real time, which makes it possible for them to get the data instantly. In the bottom of the box, there’s also an assortment of Wonder Woman and other brightly colored stickers for the young patient -- the kind Ellie usually gets at the end of her in-person appointments.
On this day, doctors tell Ellie’s mother how to attach the three movement sensors to Ellie, and the tests begin.
First, Ellie does some standing tests with her eyes open and then closed and her feet apart and then together.
Ellie’s mother and sister then measure out a 10-foot area between the kitchen and living room and tape lines to the floor for walking tests. Ellie walks with one foot in front of the other, balances on the line, and then walks back and forth for 2 minutes straight.
Then her mom sets a kitchen chair in the line of sight of the camera, and Ellie does a few tests requiring her to stand up and sit down.
There’s a constant stream of conversation between the McGinns and the doctors as they watch carefully during this process, along with lots of encouragement.
“Great job, Ellie." "Awesome!" "Nicely done," she hears through the laptop on the kitchen table, even when she’s too far away to see the people saying it.
After a few more walking tests, doctors say they want to look at her hand-eye coordination. On one end of the video chat, they tap their hands on their legs in a specific pattern and Ellie mimics it.
Then she moves closer to the camera so doctors can see her eye movements as she tracks her mother’s fingers from left t
o right and up and down. She gives them a few silly faces before starting these tests.
Finally, doctors ask her to read to them so they can check her mental skills. Mom pulls the book Wonder out of Ellie’s school backpack, and Ellie reads a few sentences to them.
Ellie is wiped out by the time it’s all over at 5 p.m. Children with LBSL get tired easily, especially at the end of the day. Getting into a car for an hour-and-a-half drive home would be almost unbearable for her at this point.
But she doesn’t have to do that on this day. She leans into her mom for a hug and then heads downstairs with her sister to play. Her mom says goodbye to the doctors, turns off the equipment, and heads into the kitchen to make dinner.
It’s been about an hour. The appointment is done.
Importance of Remote Technology for LBSL Patients
When Ellie was diagnosed with LBSL, the disease was so rare that there was no research being done on it anywhere in the world. Her parents, Beth and Mike, are working to change that. The couple has made it their mission to fight for funding of the disease in the hopes of finding a cure for their daughter and others like her.
They started a foundation, called A Cure for Ellie, that’s raised about $350,000 -- enough to start funding research at Kennedy Krieger Institute in 2016. That work has led to the development of animal models to better understand the genes involved with this disease. Gathering data on Ellie and others is the next phase.
Though Ellie is the first to use this remote technology for her doctors at the institute, they plan to collect information on several other children in the near future with a goal of getting data from 100 children with the disease over the next 5 years.
Gathering the data remotely will save time and money and relieve the burden on patients. Most patients don’t live near the institute, and traveling to Baltimore can be expensive and exhausting, especially since doctors need to gather data every 6 months.
“It’s a time saver and a money saver,” Beth says. “It’s wonderful because we don’t have to be around a ton of germs traveling or at the doctor. Plus travel really drains Ellie. Not having to do that is a very big deal.”
Growth of Virtual Testing
Remote clinical research is a newer phenomenon in the medical world, but there is growing interest in using technology so patients can collect and contribute data for research through open websites, smartphones, tablets, sensors, apps, and more.
Finding ways to boost clinical trial participation is important since the National Institutes of Health says 40% to 60% of medical studies fail to meet their target enrollment. A study out of Tufts University found 11% of trials fail to enroll even one patient and 37% under-enroll.
An FDA spokesperson says the agency encourages the use of technology in clinical trials. The agency has also developed a mobile app to support remote informed consent and secure data collection from patients at multiple study sites.
“This is a pretty novel approach,” says Amena Smith, MD, PhD, a member of Ellie’s medical and research team and a neurodevelopmental disabilities specialist at the Kennedy Krieger Institute, who sees it as a welcome development for her patients.
Ellie's mother says for her, it’s about the hope and promise of the future.
“I feel like there are all these medical advances being made right now," Beth says. "My hope is we can gather the information we need before Ellie is an adult and loses too many of her capacities."