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August 20, 2004

Debate Rages Over Deafness Test

From: Forward, NY - Aug 20, 2004

August 20, 2004

The advent of a screening test for connexin 26-related congenital deafness is posing wrenching questions for Deaf people (the capitalized D is meant to differentiate this community from those people affected by hearing loss who do not participate in Deaf culture, which is characterized by the use and advocacy of American Sign Language), their families and the physicians charged with administering the test. It is a controversy as much (or perhaps more) about the politics behind the issues as it is about the science. What should parents do with the foreknowledge that their child is or may be deaf? Does the possibility exist that this sort of testing, in the near future, may induce some parents to abort a deaf fetus?

It is questions such as these that have made many physicians reluctant to offer or even suggest the test to prospective high-risk parents. The "question is further complicated by the fact that the Deaf community does not regard deafness as a disease to be fixed or cured... and so there is a vocal minority who, in general, are not enthusiastic about the prospect of terminating pregnancies of deafness," said Dr. Walter Nance of the department of human genetics at the Medical College of Virginia.

While the majority of hearing loss in this country is considered "late onset" deafness — deafness acquired in adulthood or old age — there is a vocal minority in this country known as the "culturally Deaf," who are born with "early onset" deafness. More than half of these deaf births are congenital in nature, and more than half of those births are the result of a mutation of the connexin 26 gene. Thus the testing is, for about 500,000 to a million in this country, "a cultural issue rather than a medical issue," explained Larry Sivertson of the World Federation of the Deaf. "Most of these people will tell you that if they could take a pill tomorrow to make them hearing, they wouldn't do it. They're happy with who they are, they're happy being Deaf and they don't see it so much as a disability as much as a cultural difference."

Incidentally, the connexin 26 mutation responsible for the majority of early onset, nonsyndromic cases of deafness (meaning it is a form of deafness without any other clinically related symptoms, other than low or no hearing) has an especially high incidence among Ashkenazi jews. In fact, it has been estimated that one out of every 25 Ashkenazi Jews, as opposed to one out of 35 in the general population, is a carrier of the mutated gene. That fact, coupled with the Ashkenazi tendency to marry among their own, increases the chances of an Ashkenazi child being born deaf exponentially. Recent studies have shown that the gene, as compared with one out of 7,000 in the general population, affects one in every 1,700 Ashkenazi Jews. Of course, it is important to note that we are talking in terms of frequency of genetic cause and not frequency of occurrence. Throughout the world, "the incidence of [early onset, congenital] deafness is more or less fixed at one in 1,000," Nance stressed.

Thus, many in the Deaf community see in this test a coming cultural-apocalypse for Deaf culture — one which, aided by rapid advances in cochlear hearing-aid technology, could occur in the foreseeable future. For the moment, however, the issue is more theoretical than practical, because there are few who even know about the test, let alone who have considered using it as a possible motive to abort. "In my experience," Nance continued, "I don't think we've ever had a couple who has asked for prenatal screening for connexin deafness with the goal in mind of terminating an abnormal fetus."

Of course, the test also has plenty of positive potential. Administered by sensitive physicians and digested by liberal-minded parents, news of a Deaf child on the way could give families the necessary time to prepare accordingly: researching the most appropriate schools, beginning to learn sign language, consulting an audiologist, etc. Indeed, in this respect, the testing has the support of nearly the entire Deaf community, "and the reason," Sivertson, said, "is because it's very important to catch any signs of hearing loss before the age of 2 or 5. There's a language window when babies learn language... and there seems to be a couple of cutoffs. One is about 2 years old, and the other one is about 5 years old, and as any linguist can tell you, the earlier a child is exposed to language — be it ASL (American Sign Language) or spoken English — the better."

But even the positive aspects of the test are complicated by politics. One of the most effective treatments for deafness today is the cochlear implant, a device that sidesteps the outer ear and sends electronically coded messages directly to the cochlea in the inner ear. Today scientists are testing the device successfully on younger and younger people. Recently, even profoundly deaf infants have been fitted with the implants. The device, especially when implanted at an early age, is so effective that many of those who wear it no longer need to communicate with signs or with lip reading. For all intents and purposes, they are converted into full-fledged members of the hearing community. As "converts" to the hearing world, they are lost to the Deaf. At least that is how many of the more militant members of the Deaf community feel. Yet this, too, is changing. Nance notes how many in the Deaf community who, at one point, had been fierce opponents to the cochlear revolution now embrace it. "My belief is that there has been a softening of the position of many thoughtful Deaf people regarding cochlear implants. They're not as adamantly opposed to this as they were even seven years ago. I think it is the fact that they have been seeing some of the improvements that can occur with the implants. In the beginning, there were some... who received the implant that did not do well. Many or most of these individuals ended up in schools for the deaf, and many in the Deaf community subsequently tended to base their opinions on these cases — cases which were basically failures."

Still, the debate rages. It will no doubt intensify as technology and politics continue to butt heads.

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