9-year-old Girl with Rare Disease Helps Doctors Search For Cure

A Nine-year-old girl with a very rare genetic disorder is in a race against time.

Ellie McGinn, from Arlington, VA, girl has a rare disease called LBSL that affects her brain and spinal cord. It mostly strikes children, slowly deteriorating their ability to stand, walk, and coordinate their movement.

The disease has no cure. Most children with the disease need walking aids or wheelchairs by the time they get to their teens. The disease can be deadly and there are adults living with the disease.

However, Ellie has 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 deteriorating.

Now, she’s the first patient in the world with LBSL to test new remote technology targeted at gathering key data about the fatal disease.

Ellie’s mother, Beth McGinn says;

“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.”

Ellie’s parents – Beth and Mike, are working with doctors at the Kennedy Krieger Institute in Baltimore on research for new medicines that will with any luck lead to a cure before Elle’s condition gets worse. So on 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 through video chat.

The remote appointment started a phase of research into Ellie’s disease. It involves collecting health data every 6 months on patients’ balance, walking ability, and more to fathom the symptoms of the disorder and how it gets worse.

For rare incurable disorders, researchers have to collect this data first to understand the baseline of the condition so when they started testing potential treatments, they’ll know if it is causing improvements.

Ellie admitted it was a relief not to have to leave the house for the test this day because she was having a bit of upset stomach. ‘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 started showing symptoms of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation). Her parents knew something was wrong when she started having poor balance, falling, having leg spasms, 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 revealed.

LBSL is thought to affect only about 100 people worldwide, and it can be overwhelming. It causes problems in the transmission of signals between the brain and body, just like multiple sclerosis and Parkinson’s disease. 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. The disease of the fourth grader was 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 be easily exhausted. In the last year, she has had more pain when trying to run, and when she feeds herself, her hand shakes terribly. She also has to wear a helmet at school during PE and recess because she is vulnerable 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 envisage makes it all even more challenging.”

Remote Research

For the 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 permitting 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 immediately get the data. 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 commenced.

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.

Her mom then 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 carefully watch during this process, along with lots of praise.

“Great job, Ellie.” “Awesome!” “Nicely done,” she hears through the laptop on the kitchen table.

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 to right, then up and down.

In order to check her mental skills, the doctors finally 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 worn-out easily, especially at the end of the day. Getting into a car for an hour-and-a-half drive home would be almost excruciating 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.

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 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 which is 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.”


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