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Gaucher disease: Painful disorder, painful decisions

By Carolyn Susman
Palm Beach Post Staff Writer
Friday, May 19, 2006

Just because a disease is rare and few people have heard of it doesn't mean it will hurt any less when you get it.

Carol Goodman suffered for years with low blood counts, anemia, "lots and lots of severe nose bleeds" and leg pain that was "tremendous."

Her basket of symptoms went undiagnosed — at one time she was told the aching in her calves was "growing pains," said the 52-year-old Boynton Beach resident.

That was, until her brother was taken to the hospital with a temperature of 104 degrees, low red-blood cell counts and an enlarged spleen — symptoms suspiciously similar to those of his sister.

He was first thought to have leukemia, but a bone marrow test revealed he had a rare illness, Gaucher disease, named for the doctor who first described it in 1882, Philippe Gaucher (pronounced Go-shay).

The light went on for Goodman.

"We had never heard of it," said Goodman, who was diagnosed at 37 with this genetic disease affecting Jewish people of Eastern European ancestry.

The condition results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. Both must be carriers for a child to inherit the disorder. If they are, there is a 1-in-4 chance their child will get it.

Symptoms of the disease vary, from no outward manifestation to severe disability or even death.

Goodman has a mild form of it. Even so, her spleen was three times normal size but, she said, "no one could feel it cause it was so far under my ribs."

The good news is that there is treatment for most forms of the disease, though no cure. And the condition can be diagnosed with a blood test.

Goodman and the National Gaucher Foundation (www.gaucherdisease.org), want to raise awareness of the disorder so that if couples get genetic testing before pregnancy — Tay-Sachs is a genetic condition for which prospective parents test — that they will ask to be tested for Gaucher.

If both parents turn out to be carriers, Goodman suggests they reconsider having children.

"I would advise people planning to get pregnant to get tested and if both are carriers, think about adopting," she said.

"My brother and I are productive members of society. If a couple both are carriers and get their children tested, they can get early treatment.

"But I would have thought three times about having kids."

Goodman said her sister had two children before the family was aware of the condition, though they haven't exhibited symptoms of the disease.

Yet, she said: "It ought to be part of routine genetic testing. It's terrible to not test for this. People who are making a decision to have a family should know."

The treatment Goodman undergoes is an infusion of medication — no pills will do it — every four weeks, the result of her participation in a study. It is testing the effectiveness of doubling the dosage and giving it every four weeks, instead of a regular dosage every two weeks.

"I hate it," she said bluntly. "I've been (getting the drugs) for 10 years and I've never yet gotten used to it. A nurse comes and sticks a needle in my arm... and I sit there for a couple hours with the needle in my arm."

Once a couple gets pregnant, if both partners are carriers there is no way to treat the baby in the womb, says Rosina Cristalli, director of community relations for the National Gaucher Foundation, or to even know if it has the disorder.

"You can't tell in utero," she said.

"Right now, there is no way to tell what kind of Gaucher disease your child has. Eighty percent have Type 1, which can be treated. Early detection will lead to reversal of symptoms. If both parents are carriers, they need to get their child tested.

"If only one is a carrier or has the disease, the child will not have Gaucher. We certainly advocate that if you know you're a carrier... why wouldn't you get your child tested? The problem is the longer you wait, the more damage is done."

The ultimate goal, of course, is a cure.

"A cure is what we look for every day," Cristalli said. "In lieu of a cure, we are looking for an alternative treatment that has efficacy. People would love to take a pill."

Meanwhile, Goodman's symptoms have improved since taking the drugs, but she still suffers from fatigue severe enough that she works from home selling life and health insurance.

"I can work, but I have no energy left over for me. It's just easier for me (to work from home.) My life is much better.

"I put this in my little place, do what I do to treat the illness," she said, "and go on with my life. You can't say 'woe is me.' "

For more information, contact the National Gaucher Foundation at:
2227 Idlewood Road
Suite 12
Tucker, GA, 30084
Phone: (770)934-2910
Fax:(770)934-2911
Toll free 800-504-3189

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