FIGHTING BACK: Elise Bonsky 3, works on a rock wall with her physical therapist at Cleveland Clinic Children’s Hospital. Right:   RARE HAPPY FRAME: Jenny, Elise 3, Chris, and Emma Bonsky 15 months, at home.

By Cheryl Powell


With her bright blue eyes and infectious smile, Elise Bonsky seems like a typical, playful 3-year-old little girl.
But her parents saw subtle, troubling signs from the time she was a baby.
When Elise woke up from naps, she’d often stare with a glazed look in her eyes. When she started feeding herself, her hand shook. And when other kids her age were confidently walking, Elise seemed unstable on her feet.
After many appointments and unanswered questions, Chris and Jenny Bonsky’s worst fears were confirmed.
Elise has an extremely rare, incurable neurodegenerative condition called Alexander disease. Most patients die during childhood or in their teens.
With the fate of their oldest daughter largely out of their control, the Cuyahoga Falls, Ohio, couple is determined to do everything in their power to keep her healthy while helping to find a cure.
The family recently launched a website and a charity through the Akron Community Foundation called Elise’s Corner Fund, devoted to raising research dollars for the disorder and other related conditions. It’s their way of bringing hope to what some might see as a hopeless situation.
“There is hope in the research that’s being done,” her mom said.
The Bonskys, who grew up in the same North Canton, Ohio, neighbourhood, had been married for a couple of years when they welcomed their first child.
The pregnancy and birth were normal, and Elise seemed to reach all her developmental milestones for rolling, sitting up, crawling and walking.
But her parents noticed “some weird tendencies” — the staring, the shakiness, the unsteady gait. Several doctors examined her and concluded nothing was wrong.
While battling a severe respiratory infection in April 2013, Elise’s eyes rolled back in her head, and she fell backwards in a bathtub. The next day, a local neurologist confirmed that Elise was having seizures and subsequently started her on an anti-seizure medication.
Months later, a friend encouraged her parents to push for an MRI scan of Elise’s brain. The test showed some abnormalities in the portion of Elise’s brain responsible for coordination, but nothing too concerning.
Elise started physical and occupational therapy to help her build strength and coordination.
Over the next year, Elise seemed to be getting better. With her seizures under control and her coordination improving, her parents weren’t worried about her follow-up MRI in November.
Until the neurologist called the next day.
“How quickly can you get to the hospital?”
“I was convinced it was a terminal disease and we were going to go in and hear the worst,” her mother recalled.
What they heard was that a portion of Elise’s brain had changed. Though blood tests would be needed to confirm the diagnosis, her MRI showed signs of Alexander disease.
The doctor initially told them very little about the often-fatal disorder, Jenny said. “And to be fair, we didn’t ask. We were in shock. He didn’t use the words ‘terminal disease’ at the time.”
Elise’s parents turned to Google and searched “best pediatric hospitals in the country.”
The search led them to Children’s Hospital of Philadelphia (CHOP), where pediatric neurologist Dr Amy T Waldman serves as medical director of a new centre devoted to treating patients with Alexander disease and other related conditions known as leukodystrophy disorders.
The Bonskys had their first appointment with Waldman in January, when the specialist confirmed the diagnosis.
Alexander disease falls into a category of disorders involving destruction of the fatty myelin that insulates nerve fibres. In patients with Alexander disease, a genetic mutation leads to abnormal formation and maintenance of the myelin. (The genetic mutation usually is spontaneous; Elise’s 15-month-old sister, Emma, doesn’t have the disorder.)
Symptoms can include seizures, developmental regression or loss of skills a child has achieved, muscle tightness, speech issues, swallowing issues and vomiting. There is no cure nor standard treatments.
“It’s such a unique and terrible disease,’” Jenny said. “There are so many factors that go into how the disease progresses.” “They can’t give you a path,” Chris agreed.
Elise splits her care between Philadelphia and specialists at the Cleveland Clinic Children’s Hospital, where she receives weekly occupational, physical and speech therapies.
Her family works with a dietitian at the Cleveland Clinic. She also participates in ballet and tap classes.
“We’re focused on today and keeping her healthy today,” Elise’s mother said. “We don’t need to know what those last stages are.”
For now, CHOP’s Waldman said, her patient is doing “very well.”
“We have to keep her well until we can find the cure,” she said. “I think there is some promise to some research at a very primitive level. Some people are looking at ways to turn off that gene to overcome the problem. I think there’s hope.”
Family, friends and Jenny Bonsky’s co-workers at FirstEnergy in Akron wanted to help the family by raising money. Instead of keeping the nearly $10,000 for their own expenses, the Bonskys decided to start a charity in their daughter’s name, directing all money toward efforts to find a cure.
“We want research,” Elise’s mom said. “We want all of our money that is raised to go toward research for this disease. The problem we heard is there’s not a lot of funding out there.”
Waldman said grassroots initiatives by the Bonskys and other families to raise money and awareness shouldn’t be underestimated.
The Susan G  Komen organisation for breast cancer, the National Multiple Sclerosis Society and numerous other big-name charities originally were started by families affected by the diseases, she said.
“One of the things I have really come to recognise is how families and family organisations have advanced science,” Waldman said. “I think it’s a wonderful thing that the Bonskys have decided to start an organisation in Elise’s name.”
For more information about Alexander disease and Elise’s Corner Fund, visit www.elisescorner.com
After reaching out to two leading researchers — Drs Albee Messing (University of Wisconsin, Waisman Center) and Daniel Bonthius (University of Iowa, University of Iowa Children’s Hospital), the couple became more educated…and hopeful. Both doctors and their respective facilities share a common goal of trying to turn off the abnormal GFAP gene, or preventing its harmful effects.
The Waisman Center’s research is presently twofold:
1. To gain a better understanding of the basic mechanisms of the disease — as in, how do changes in GFAP cause AxD?
2. Examine potential therapeutic strategies for treatment of the disorder, and identify biomarkers that would permit the monitoring of severity / progression of AxD.
Take note that, while a portion of research related to understanding the root cause of the Disease is federally funded by the National Institute of Health (NIH), all efforts aimed at identifying treatments is 100% privately funded. — Akron Beacon Journal/TNS (additional input from the website)