The first thing you notice about Brooklyn Van Skoyck is how beautiful her eyes are. The second thing you notice is how loved the 5-year-old is.
She sits in her wheelchair at the kitchen table of her grandparents’ home in Miamisburg, Ohio.
Brooklyn’s parents, Elizabeth and Frank Van Skoyck, sit down to tell their family’s story as their 3-year-old son, Xander, plays.
“She was born prematurely, 3 pounds at birth,” Elizabeth says. “We started to notice that she wasn’t able to hold up her head or roll over or anything when she was a baby. And the doctor kept telling
us she was premature, she’ll catch up.”
But the Van Skoycks knew something was wrong. A physical therapist referred Brooklyn to the Cleveland Clinic.
“Her head was starting to get misshapen and they had to do a CT scan before they could fit her with a shaping helmet,” Elizabeth says.
The CT scan confirmed there was a problem with Brooklyn’s brain.
Following five months of testing through the Cleveland Clinic, when Brooklyn was 10 months old, the Van Skoycks learned that their daughter had Canavan disease.
Canavan is a debilitating neurological disorder in which the brain deteriorates because of a defective inherited gene.
Children born with Canavan rarely, if ever, survive their first decade. They become blind, paralyzed and prone to seizures. There is no cure.
Elizabeth says her reaction was “devastation.” She had never heard of the disorder before Brooklyn’s diagnosis.
A rare disorder, Canavan is more commonly found in people of Ashkenazi Jewish descent. One in 40 Ashkenazi Jews is a carrier for Canavan, and one in 5,000 Jews is born with the disease.
But Canavan — and the other genetic disorders more commonly seen in and associated with Ashkenazi Jews — is also found in the general population, albeit at an microscopically small rate.
The Van Skoycks never gave genetic testing a thought.
Elizabeth’s father, Al Friedman, is Jewish; her mother, Rosetta, is not. Frank’s ancestry is Dutch and German.
When they received Brooklyn’s diagnosis, Elizabeth was pregnant with their second child.
They went for genetic testing through Miami Valley Hospital and found that Elizabeth carried an Ashkenazi mutation of Canavan, and Frank carried a non-Jewish mutation.
To their relief, they also learned that their unborn child was not a carrier. If both parents carry a Canavan mutation, the chances of their child having the disease are one in four.
“Unfortunately, it’s partly misconception that you do not see Canavan in the non-Jewish population,” says Dr. Neil Friedman, Brooklyn’s pediatric neurologist at the Cleveland Clinic. “When I saw the original name, Van Skoyck, it wasn’t top of my list. But we know that these disorders are certainly not exclusive among Ashkenazi Jews.”
Dr. Gregory Eberhardt, Brooklyn’s pediatrician, says Canavan is so rarely seen in the region that it would be easy for doctors to misdiagnose or overlook.
“Early on, it’s going to be, at least in many cases, kind of vague symptoms that aren’t that specific, so unless you take a broad look at things, you may not find it,” he says. “I could see how they went through that frustrating process.”
Eberhardt also relied on Dr. Marvin Miller, head of the Department of Medical Genetics at Dayton Children’s Medical Center in Dayton, Ohio, and affiliated professor in the Department of Biomedical, Industrial and Human Factors Engineering at Wright State University.
“Even though we think of Canavan’s disease as not existing in the non-Ashkenazi Jewish population, it certainly can,” says Miller. “It’s just that the likelihood of that happening is much, much less likely.”
Miller says he sees very little Jewish genetic disease in Dayton. “If you are in New York City it’s prevalent,” he says. “But here, it’s much less so.”
In the Van Skoyck’s small two-bedroom apartment next to her parent’s home, Elizabeth cares for both children. Frank works two jobs to make ends meet. Nights are busy: Brooklyn wakes up frequently with leg cramps.
Brooklyn goes for physical therapy twice a week, and occupational and speech therapy once a week.
“She understands a lot,” Elizabeth says. “She can’t tell you back, but she answers some questions yes or no — she shakes her head.”
Brooklyn also has a walker, which is too big to fit through the doorways of the apartment or even her grandparents’ house. The physical therapists suggested Elizabeth and Frank take Brooklyn to a mall to use it.
A touch-screen computer device — used for those with cerebral palsy, autism, hearing and speech problems — helps Brooklyn communicate her wants and needs.
“That, as far as I know, is unheard of for any of these Canavan kids,” Elizabeth says.
Eberhardt noted that Brooklyn’s development “plateaued” in the period from 15 months to 3 1/2, when most children have “an explosion of development.”
“Definitely have genetic testing,” Elizabeth urges. “If you know you have Jewish background, it’s very smart to get tested. You want your family to know. It’s a simple blood test.”
Friedman says he would have the Jewish partner go first, to be screened for genetic disorders most commonly found in Ashkenazi Jews.
“When risks run high within a population, as it does with certain things in the Ashkenazi Jews, awareness and screening for it early on would be appropriate,” Friedman says. “If they don’t carry [the most frequent Ashkenazi Canavan mutation], it doesn’t eliminate the risk because there’s a very small risk they could be carrying the other gene [a less frequent mutation]. But I think you reduce the risk significantly.”
Miller offers a caveat: genetic testing isn’t foolproof. If one carries a disease’s mutation that isn’t common, testing can miss it.
Testing, he says, “significantly decreases the risk, but it’s important to recognize it doesn’t take it down to zero.”