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Hidden Danger: A Jewish genetic disease comes out of the closet

George Cantor
Special to the Jewish News

When Michael Klar of West Bloomfield was not quite 2 years old, he began acting cranky and irritable. When doctors examined him, they found that his spleen was greatly enlarged.

He showed no other symptoms of any diseases the doctors could identify, including some very bad ones. Finally, on a hunch, one of them asked his mother, Nori, if the family was Jewish.

“That's the first time I ever heard of Gaucher disease,” she. says. “I didn't even want to let my husband know. I was going through chemo at that time, and to have our youngest son come down with a disease where bad things might happen ... it just seemed like it was too much to handle:”

Michael is now 10. He leads an active, normal life, and aside from the fact that twice a month
he must have an IV injection of a drug called Cerezyme, there is no evidence of illness.

“I'm seeing more patients now than ever before who have been identified as having Gaucher,” says Dr. Leopoldo Eisenberg, a hematologist who handles more Gaucher cases than any other physician in the Detroit area.

“But because it is a genetic disease, and the most common form of it is associated with Jews of Eastern European ancestry, there is still something of an old-country stigma attached to it. Many people don't want to know if they have it. And once they find out, they don't want anyone else to know:”

Even though Gaucher is believed to be the most widespread genetic disorder affecting Jews, most people are like Nori Klar. They never heard of it until they're told they have it.

That was certainly the case with me, when Dr. Eisenberg told me that's what was making my spleen swell to 20 times its normal size and my white blood cell count plummet.

That was eight years ago, when I was already well into my 50s. I have been on Cerezyme ever since. While Gaucher caused my hip to fracture two years ago, the overall results have been excellent.

Dr. Eisenberg says that this wide variation is not unusual. “The disease takes different courses, depending on the penetration of the gene. The more aggressive form can manifest itself in infancy, while some people can walk around with Gaucher their entire life and never know:”

Gaucher was first identified by a French medical student (for whom it is named) in 1882. The condition is caused by the lack of an enzyme which enables the blood to dispose of fatty substances. Instead, they accumulate and the cells they form can go on to attack the spleen, liver and bone marrow - especially the weight-bearing bones.
Before the development of a treatment, the most common course was to remove the patient's spleen. But that only addressed a symptom, and the disease often would go on to attack the liver. When undetected, it can make people tired, subject them to bleeding and cause excruciating pain in the legs and hips, with fractures often resulting.

“It took my two brothers who are physicians to calm me down when we got the diagnosis,” says
Nori.. “But when I found out what it was - and more important that there was a treatment for it - things looked a lot better. But we still didn't tell our parents and when I finally told my husband, Mark, his face changed colors.”

In order for Gaucher to be passed along to a child, both parents must be carriers. By simple genetic mathematics, there is a 25 percent chance that their child will contract Gaucher and a 25 percent chance the child will not have the gene at all. But it is a 5050 shot that the child will be a carrier.

If a carrier marries someone with Gaucher, the odds go to 50 percent for their children. And should two people with Gaucher have children, the chances of it being transmitted are 100 percent.

My daughter is a carrier and before she became pregnant her husband was tested. He is free 'of the gene, so their children cannot get Gaucher.

The Klars have two other sons; Aric, 16 and Jonathan, 14. Neither has Gaucher.

Nori is a pharmacist and the Klars made an early decision to administer the drug in their own home. Nori's brothers gave her a quick course in handling an IV and she has been giving Michael his injections ever since.

“When he was younger, we made it a special night;” says Mark. “We invited his friends over and made it clear there was nothing to be afraid of. We didn't hook Michael up to an IV stand. He could run around with his friends even when the treatment was going on, just as long as no one gave a hard hit to the bag:”

The worldwide list of Gaucher patients is about 50,000 - but the disease can be found in an
estimated one in 60 Jews of Ashkenazic background. While screening for TaySachs, another Jewish genetic disease which cannot be treated effectively, is common there is still no standard screening mechanism for Gaucher.

That is one of the major reasons for Gaucher Awareness Month in September says Erin O'Rourke, who is the spokesperson for the National Gaucher Foundation based in Rockville, Md
(www.gaucherdisease.org)

"Many people are reluctant to find out later in life; because of the expense involved for both diagnostic testing and treatment;” says Dr. Eisenberg. “It would be much better if they
learned the facts earlier in the game.”

Insurance coverage varies, but the drug's maker, Genzyme Corp of Cambridge, Mass., will work with patients on affordable payments. Cerezyme was, however one of the drugs cited by a
Congressional subcommittee investigating the cost of prescription drugs.

But this treatment, developed in the early 1990s, incurred huge research costs and is used for a relatively small pool of people. It replaces the enzyme the Gaucher patient's blood lacks while alleviating the pain and uncertainty associated with the disease.

There is reason to believe that treatment can be delivered capsule form in a few more years, perhaps before this decade is over.

“It's nothing;” says Michael of his Gaucher disease. “"I play roller hockey and nobody ever told me that there was something I couldn't do:”

“Our story, thank God, is a good one;” says Nori. “Our son was born at a time when a treatment was available.

“When he was younger, Michael would sometimes ask me, “Why do I have to get this injection?”

And I'd tell him, “Because you're lucky.”

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