Sam Uretsky

Informing Choice

There are about 40 lysosomal storage diseases, inherited conditions, each one individually rare, but as a group they may affect as many as 1 in 1,500 live births, although this is the high figure and 1 in 5,000 seems more likely. For the most part, these diseases are carried by a recessive gene, so that both mother and father must be carriers of the gene before a child will have the syndrome.

The defective genes cause failure of the body to produce an enzyme needed for elimination of some toxic material. Over time, there is damage to the nervous system leading to damage, most often some level of developmental problem, but commonly with loss of other functions as well.

In the case of Tay-Sachs disease, this means the infant will appear normal at birth, but go into decline after a few months, leading to blindness, deafness, paralysis and death by the age of 4 years. Hunter’s Syndrome usually appears between the ages of 1 and 3, and can be marked by vision and hearing loss, heart problems, joint problems, and other developmental delays. Hurler Syndrome may show signs as early as 2 years, but generally appears between 3 and 8, and is marked by mental decline, deafness, impaired vision, and skeletal stiffness. Hurler Syndrome can progress quickly, and leads to early death, but other forms, notably Hurler-Scheie Syndrome, are relatively benign. The conditions have this in common — the infant appears normal at birth, symptoms appear after months or years, and the effects, sometimes, can be devastating. Which brings us to Oklahoma.

While medical science has no treatment for lysosomal storage diseases, genetic screening permits detection. Genetic screening can identify carriers of the genes, who can then make intelligent decisions about having children. Tay-Sachs Disease, which was once thought of as a disease of Eastern European Jews, has been effectively eliminated in this population because of awareness, and genetic screening — but as a result, the disease is now seen in the children of couples who would have been considered low risk, who never thought they needed genetic screening. The genetic defect in the fetus can be detected in the 10th week of pregnancy, with amniocentesis or chorionic villus sampling.

With this information, prospective parents can still make a choice. Even those who strongly oppose abortion might be called on to say whether abortion is worse than condemning a live child to progressive decline and early, often painful death. If the lab results indicate the presence of any of the lysosomal storage diseases, the physician should sit down with the parents and have a discussion of diagnosis and prognosis.

Oklahoma’s legislature has passed two bills intended to make abortion more difficult. One requires that a woman seeking an abortion look at an ultrasound of the fetus while the healthcare provider narrates the state of fetal development. The second prevents a woman from suing her physician for withholding information about potential fetal defects. Gov. Brad Henry (D) had vetoed the bills, but the legislature, in a show of bipartisanship, overrode the veto. Mary Balch, of the Oklahoma Right to Life organization, was quoted as saying of the ultrasound law, “It helps to prevent (a woman) from making a decision she may regret for the rest of her life and it empowers her with the most accurate information about her pregnancy so that she can make a truly informed ‘choice.’” This might be justified, if it were true, but since the physician has the option of withholding information, the claim is patently false. Ultrasound can show fingers and toes, but it can’t show the genetic defects that lead to blindness, deafness, paralysis and early death, and the physician is under no obligation to give the parents this information. That’s not a truly informed choice.

Research is making progress in helping people with lysosomal storage disorders. Several of the enzymes whose absence causes these conditions have been identified, and one, idursulfase (brand name Elaprase), is commercially available for treatment of some of the symptoms of Hunter’s Syndrome. It can’t reverse the condition, but idursulfase often improves walking ability.

Unfortunately, the enzyme is expensive to produce, and the market is very small, and so the annual cost of treatment is between $300,000 and $500,000. Oklahoma has been cutting back on assistance for diabetic patients, and reducing payments for dialysis, so people with Hunter’s Disease don’t stand much chance of getting help.

Did anybody explain this to the Oklahoma legislature, or does their concern for children stop at the moment of birth?

Sam Uretsky is a pharmacist who lives on Long Island, N.Y.

From The Progressive Populist, June 1, 2010