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Minus two organs, Gaucher patient feels lucky

By Deborah Moon Seldner/Jewish Review RICHARD SAGON (right) feels lucky that treatment for Gaucher's disease was developed when he'd only lost two "non-essential organs." Richard Sagon, 56, feels lucky that he only lost his spleen and gallbladder and had two bone crises before a treatment for Gaucher's disease was developed in the early 1990s. At age 25, Sagon was diagnosed with Gaucher's (pronounced go-shays), when his doctor sent him to a specialist after being unable to determine the cause of Sagon's anemia and enlarged spleen.

When Sagon was diagnosed with the genetic disease that afflicts about one in every 1,000 Ashkenazi Jews, there was no cure and no treatment for Gaucher's. He said his doctor told him he was lucky he hadn't had symptoms earlier-by age 5, some children with Gaucher's already have extremely enlarged spleens and fail to grow.

"I knew I had an incurable, untreatable condition, so I went about my life," said Sagon.

A few years later, he had his spleen removed because it had become so enlarged that it could have been ruptured by a simple bump on his side. Later his gallbladder had to be removed because his malfunctioning spleen had caused gallstones to form.

"I was just getting rid of a non-essential organ every few years," he quipped, adding it had the beneficial side effect of keeping his weight down.

A few years later he had his first really unpleasant experience with Gaucher's-he developed severe leg pain due to a classic Gaucher's problem of a blockage in his bone marrow resulting in bone death. Fortunately pain pills relieved the pain and the blockage resolved itself in a few days leaving only a small area of dead bone.

For about 10 years, Sagon said, he had no more ill effects from Gaucher's disease, then in the late 1990s he had another Gaucher's bone crisis.

Sagon said his wife was always telling him he should follow up on potential breakthroughs on Gaucher's, so when with severe pain back, he decided to call Oregon Health and Science University's Gaucher's clinic. He said Dr. Robert Steiner (see story above) told him that a treatment had been developed within the past few years.

So Sagon began receiving monthly enzyme replacement therapy, which is very effective in halting the progression of Gaucher's disease. The treatment is extremely expensive, but Sagon said his insurance has been very good about covering the cost.

"It's wonderful what the work Genzyme has done has done for people with Gaucher's, but it is an unconscionable amount of money for the treatment."

Insurance companies typically cover the treatments and funding is available to help those unable to meet co-payments or deductibles.

Sagon said he is grateful that Genzyme developed the ERT before he had more bone crises leading to avascular necrosis (bone death) because the resulting brittle bones can cause serious orthopedic problems.

Sagon said he is very supportive of genetic testing for Ashkenazi Jews, since he is well aware of how effective the treatment is. He said he has not had his daughters (Ellisa, 18, and Emma, 14) screened for the condition because his wife is from a different gene pool and the odds are remote that she would be a carrier.

Type I Gaucher's disease is the most common genetic disease in the Ashkenazic Jewish population, with between one in 10 and one in 20 Ashkenazi Jews carrying the recessive genetic defect that causes the disease. The incidence of the gene in the general population is less than one in 100 to 200. A person must inherit a Gaucher gene from each parent to be afflicted with the condition.