Romeoville family struggles with daughter’s fatal disease
By Janet Lundquist firstname.lastname@example.org August 5, 2013 10:02PM
Family photo of Bernadette and Wally Hreska with Olivia (right) and Isabella (left), who was diagnosed with Vanishing White Matter three years ago. | Supplied photo
Updated: September 7, 2013 6:27AM
Isabella Hreska was 2 years old when her mother noticed something slightly off in her toddler’s stride.
She was slightly pigeon-toed, and seemed to stumble more than other kids her age, said her mother, Bernadette Hreska, of Romeoville.
Her pediatrician said Isabella would outgrow it. But she didn’t, and as she grew, Isabella seemed to have trouble skipping and jumping. The problem stood out for her mother when she watched Isabella play with friends her age.
“It’s so subtle,” Hreska said. “But when you watched her all the time, and you watched other children, you realize something’s not right.”
When Isabella was 4, an orthopedic doctor tested her Babinski reflex, a reaction to having the sole of one’s foot stroked. Children younger than two fan out their toes and raise their big toe.
While most people outgrow the reflex by age 2, Isabella still had it, Hreska said.
The orthopedic doctor referred Isabella to a neurologist. Two hours after an MRI test, the doctor called the family and asked them to come back to the office, Hreska said.
After some research, the doctors diagnosed her with an incurable, fatal genetic disorder called Vanishing White Matter.
According to the United Leukodystrophy Foundation, the disease causes neurological deterioration, and, eventually, coma and death. Fevers and illness can make the deterioration happen even faster.
Children born with the disease appear to be normal. As they grow, symptoms such as muscle spasms, abnormal drowsiness, fevers and loss of muscle coordination appear, the foundation reports.
There are many different genetic mutations that can lead to the disease, said Orna Elroy-Stein, a professor at Tel Aviv University who is researching potential drug treatments that could slow the progression of the disease.
While Isabella has a mild mutation and will have a slower progression, many people with this condition do not usually live longer than their 20s.
“All along you think, ‘You’re wrong. This is not my child. My daughter is not this ill,’” Hreska said.
Isabella’s neurologist sent her tests to a specialist in the Netherlands.
Meanwhile, after being told the best treatment for Isabella is physical therapy, to keep her walking as long as possible, Hreska contacted Elroy-Stein during a desperate search for options.
Elroy-Stein, a molecular biologist, has been researching drug treatments that will regulate the activity of the mutated gene, thus slowing the progression of the disease. She estimated it will take several years before a successful drug is found.
Nevertheless, the family held a fundraiser this summer to help fund Elroy-Stein’s research. And, they’re trying to raise awareness about the disease.
“We hope for success and also hope that Isabella’s symptoms will not deteriorate fast, so she could benefit from the potential therapeutic treatment in the future,” Elroy-Stein wrote in an email.
Isabella, 7, wears orthotic shoes and struggles to physically keep up with her peers, Hreska said.
“I want her to think she’s just as normal as everyone else,” Hreska said.
Until a drug treatment is found, Hreska said the family tries to support Isabella the best they can.
“That’s all that goes through your head. You can’t eat, you can’t sleep. That desperation is something you can’t explain,” Hreska said. “You live and breathe this all day long. You see her and you can’t help her.”