Coping With Canavan Disease

Children of interfaith marriages can still inherit genetic diseases most commonly associated with Ashkenaki Jews.

June 12, 2009

Marshall Weiss
The Dayton Jewish Observer

Question: Do you know anyone with Canavan Disease? How do they deal with it?

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. 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 began. “We started to notice that she wasn’t able to hold up her head or roll over or anything when she was a baby. 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. A CT scan confirmed there was a problem with Brooklyn’s brain. Following five months of testing, 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.

“We thought they were going to tell us she had cerebral palsy,” said Elizabeth. “We hadn’t heard of Canavan before.”

Canavan is, indeed, a rare disease that 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 a 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.

After Brooklyn’s diagnosis, they went for genetic testing and found that Elizabeth carried an Ashkenazi mutation of Canavan and Frank carried a non-Jewish mutation. If both parents carry a Canavan mutation, the chances of their child having the disease are one in four.

“Unfortunately, it’s partly a misconception that you do not see Canavan’s in non-Jewish population,” said Dr. Neil Friedman, Brooklyn’s pediatric neurologist at the Cleveland Clinic.

“One is essentially trained to look for it (Canavan) among Ashkenazi Jews,” Dr. Friedman continued. “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.”

Elizabeth and Frank chose Dr. Gregory Eberhardt as their pediatrician. Dr. Eberhardt said that Canavan is so rarely seen in Ohio, it would be easy for doctors to misdiagnose or overlook.

Brooklyn is the first patient in his practice with Canavan, and there has been a learning curve. Dr. Eberhardt has relied on Dr. Marvin Miller, head of the Department of Medical Genetics at Dayton Children’s Medical Center, 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,” said Dr. Miller.
In the Van Skoyck’s small two-bedroom apartment next to her parent’s home, Elizabeth cares for Brooklyn, who goes to physical therapy twice a week, occupational and speech therapy once a week.

“She’ll be 5 in December and is doing fantastic,” Elizabeth said. “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. She now has a walker.

“And we just ordered her a talking device too,” Elizabeth said. “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 said.

For more information, an excellent resource is the National Tay-Sachs & Allied Diseases Association at http://www.ntsad.org . The Canavan Foundation, at http://www.canavanfoundation.org ,)is a not-for-profit organization that aims to help prevent Canavan disease through education and testing and to support research efforts, which have yet to find an effective therapy. It is also a clearing house for information about genetic testing and about other Jewish genetic diseases for which there is carrier testing.

Marshall Weiss is editor and publisher of The Dayton Jewish Observer.