Shellene Gilbert found out nearly 10 years ago about her daughter's incurable disease.
It was a mom's worst nightmare, and it continues to this day as her daughter Emma, now 14, struggles with a genetic disorder that will one day end her life.
Only about 250 people around the world have Emma's particular type of leukodystrophy, her mother said Tuesday.
"She knows they are trying to work on a medicine that will help her," Gilbert said. "She doesn't know it's terminal."
Hand tremors an early sign of disease
Emma was born at 7 pounds, 3 ounces and appeared to be the picture of health as a baby and toddler.
She exhibited curiosity and an infectious smile.
But buried in her DNA was a genetic disorder that hadn't revealed itself.
Emma was an inquisitive and stubborn child who loved to laugh — qualities she retains despite her disease, her mother said.
When she was 4, a teacher noticed Emma's hands shook when she was writing and coloring. A pediatrician assured her parents the shaking was normal.
The assurance was a relief at the time, but it turned out to be an early sign of a building storm.
Cold and pneumonia, holding onto walls
After playing in the snow, 4-year-old Emma caught a cold that progressed to pneumonia.
With the pneumonia came other, more insidious, symptoms.
"She was holding onto walls when she was walking," Gilbert said. "… Her gait completely changed."
Emma was referred to a neurologist, and on Feb. 10, 2015, was diagnosed with leukodystrophy, an inherited disorder that affects the brain and spine. The disease had been lurking in the background since the day she was born.
The diagnosis date is one that Gilbert recalls without pause from memory. It's a date she will never forget.
Emma's disease leads to the gradual loss of physical and mental function, progressively destroying the body's ability to function normally.
The diagnosis and the disease have left a permanent mark on both Emma and her family, said Gilbert.
"It changes your world in every way," she said.
'She's a fighter, she's really strong'
For the next 15 months after the diagnosis, doctors struggled to determine what type of leukodystrophy Emma had.
Genetic tests at the Cleveland Clinic failed to discover the specific type. But an advanced genetic test confirmed vanishing white matter as Emma's disorder. The condition destroys myelin, the brain’s white matter, permanently affecting transmission of brain signals to the rest of the body.
The disease has no cure.
"When she was first diagnosed we were told (she had) about 10 years," Gilbert said. "She's a fighter, she's really strong … and she's really stubborn."
Emma's disease has continued to progress, and she lost the ability to walk about a year after being diagnosed, her mother said.
"Her head control isn't as good as it used to be," Gilbert said. "(She) can't hold things very well. She has developed a seizure disorder."
Her most recent seizure was in January, but last year was a difficult one, Gilbert said.
"In 2023 she was pretty much having them monthly," Gilbert said.
Adjustments to her medication made by a team of specialists at Akron Children's Hospital appear to have helped, Gilbert said.
Emma's speech has slowed down, her mother said, but she will eventually lose the ability to speak and even to eat.
A broken femur, a dangerous surgery
The disease can progress faster by a bump to the head, so Emma wears a helmet to school when she can attend. She goes to Cloverleaf Middle School in Westfield Township.
"She'll eventually lose her ability to see … to swallow," said Gilbert.
During a trip to Cedar Point water park in July, Emma broke her femur, a result of her bones becoming brittle.
Before surgery to fix the break, Gilbert was told her daughter might not wake up. Anesthesia is another thing that can exacerbate Emma's condition.
"It's to the point where I can't take her anywhere alone," Gilbert said. "It's limited what she can do recently."
'Make memories with her'
That's why Gilbert is trying to acquire a wheelchair accessible van.
Gilbert said her daughter has handled her condition with dignity and enjoys her time with friends and family.
At 1 p.m. Sunday, a "Wheels for Emma: A birthday celebration" is planned at the Cloverleaf Recreation Center in Westfield.
"I would love to have an accessible van and (to live) our lives as much as we can," Gilbert said. "… We would like to get out and make memories with her again."
More information about leukodystrophy
To find out more about the Oct. 13 fundraiser , go to https://t.ly/W1Roz.
To see Emma's page on the Hunter's Hope Foundation website, go to https://t.ly/bM3ZZ. The foundation was established by former Buffalo Bills quarterback Jim Kelly and his wife for their son, who died of Krabbe leukodystrophy in 2005 when he was 8 years old.
Leave a message for Alan Ashworth at 330-996-3859 or email him at aashworth@gannett.com. Follow him on Twitter at @newsalanbeaconj or Facebook at www.facebook.com/alan.newsman.
This article originally appeared on Akron Beacon Journal: 'She's a fighter': Local teen battles terminal illness that eats away brain's white matter
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