Marshall Weiss is the editor of The Dayton Jewish Observer.
Coping with Canavan Disease
Reprinted by permission from the Dayton Jewish Observer.
May 30, 2008. The first thing you notice about Brooklyn Van Skoyck is how beautiful her eyes are. The second thing you notice is how loved the 4-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 almost 3-year-old son, Xander, plays.
"She was born prematurely, 3 lbs. at birth," Elizabeth begins. "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."
Frank adds, "He just wrote us off that we were over-concerned parents: basically we had no reason to be worried, she was premature."
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.
|(L-R) Elizabeth, Brooklyn and Frank van Skoyk.|
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.
"We hadn't heard of it before"
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."
"We thought for sure they were going to tell us she had CP," she says. "We hadn't heard of it before."
A rare disease, Canavan is more commonly found in people of Ashkenazi (Eastern European) Jewish descent. One in 40 Ashkenazi Jews is a carrier for Canavan. One in 5,000 Jews is born with Canavan.
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 in Dayton, Ohio, 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.
"Not exclusive among Ashkenazi Jews"
"Unfortunately, it's partly misconception that you do not see Canavan's in non-Jewish population," says Dr. Neil Friedman, Brooklyn's pediatric neurologist at the Cleveland Clinic.
"One is essentially trained to look for it (Canavan) among Ashkenazi Jews," Friedman says. "To be honest, 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."
Once they received Brooklyn's diagnosis, Elizabeth and Frank changed pediatricians. But their second pediatrician, part of a teaching clinic, treated Brooklyn like a guinea pig.
"When we were there," Elizabeth says, "he would bring in all the other doctors, all the other nurses: 'Now come look at this. You'll never see this again. Look at how her eyes react. Look at how her head reacts.' I wasn't comfortable with him."
Elizabeth and Frank then turned to Dr. Gregory Eberhardt in Springboro, Ohio, as their third pediatrician. They've been with him for two years.
"He's great," Elizabeth says. "He takes his time, he makes sure if we have any questions, he'll look them up on the computer."
Easy to misdiagnose
Eberhardt says that Canavan is so rarely seen in Ohio, it would be easy for doctors to misdiagnose or overlook.
|The Jewish Community Federation of Dayton and an anonymous donor arranged to provide the van Skoyk family with a van to transport Brooklyn in her wheelchair.|
"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."
Though Eberhardt says he saw a patient with Canavan during his residency, Brooklyn is the first patient in his practice with Canavan. And there is a learning curve.
"It definitely required some refreshment that honestly they (the parents) provided a lot of."
Eberhardt says he 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, also in Dayton.
"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."
Elizabeth knows of only one other child in Ohio diagnosed with Canavan. Friedman has no other patients with the disease currently. Miller recalls one child from the Dayton area with Canavan about a decade ago.
In the Van Skoyck's small two-bedroom apartment next to her parents' home, Elizabeth cares for both children. Frank works two jobs to make ends meet. Nights are busy. Brooklyn wakes up frequently with leg cramps.
"We can't have her in the bedroom with Xander because it will keep him up all night," Elizabeth says. "So she sleeps in our bed, because there's no room in our bedroom for a hospital crib."
A Miamisburg School District physical therapist comes out once a week for itinerant services through its preschool program.
Brooklyn goes for physical therapy twice a week, occupational and speech therapy once a week.
"She'll be 5 in December and is doing fantastic," Elizabeth says. "She understands a lot. She can't tell you back, but she answers some questions yes or no: she shakes her head."
Brooklyn is even learning to walk a little bit. She now has a walker.
"They've been trying for probably two years and she's just gotten where she's strong enough to push it," Elizabeth says.
The walker is too big to fit through the doorways of the apartment or even her grandparents' house. The physical therapists suggest Elizabeth and Frank take Brooklyn to a mall to use it.
"And we just ordered her a talking device too," Elizabeth says. "They did an evaluation and she's able to pick the pictures she wants, to tell you what she wants to do."
The touch-screen computer device--used for those with CP, autism, hearing and speech problems--will help Brooklyn communicate her wants and needs.
"That, as far as I know, is unheard of for any of these Canavan kids," Elizabeth says.
"What I have seen more in her generally is not a progression over these two years," Eberhardt says. "I think she's not regressed significantly, but in that period of time from 15 months to 3½, most kids have an explosion of development--speaking and running and climbing--and she has just kind of plateaued. She's a happy kid."
"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.
"I think when risks run high within a population as it does with certain things in the Ashkenazi Jews, that potentially awareness and screening for it early on would be appropriate," Friedman says. "If they don't carry it (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 Ashkenazi Canavan mutation). But I think you reduce the risk significantly. And if they (Ashkenazi Jewish partners) do have it, then I think the other partner should be tested, just so that there's an awareness."
"I would screen the Jewish partner first," Miller agrees. "The reason is that you know what the common mutations are and it's relatively inexpensive. In order to screen the non-Ashkenazi Jewish partner, that panel of mutations is not going to be relevant. You really need to sequence the whole gene," which Miller says may cost $1,500-$2,000.
"Now, if you did the 10 or 12 tests that are offered to an Ashkenazi Jewish individual, and the Ashkenazi Jewish potential parent all turned out negative for all of them, you would stop there," he says.
"Let's say for Tay-Sachs it turned out positive, you might consider offering to the family having the non-Ashkenazi Jewish partner tested just for that one. That might be an approach."
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."
Brooklyn had a check-up at the Cleveland Clinic on May 9.
"She seems to be doing pretty well," Friedman says. "She seems to be holding her own at the moment without obvious decline, although I suspect it will come."