Tuesday, July 19, 2016

The Other Selfish Gene

Wanting Babies Like Themselves, Some Parents Choose Genetic Defects

The New York Times  By DARSHAK M. SANGHAVI, M.D.DEC. 5, 2006 

Wanting to have children who follow in one’s footsteps is an understandable desire. But a coming article in the journal Fertility and Sterility offers a fascinating glimpse into how far some parents may go to ensure that their children stay in their world — by intentionally choosing malfunctioning genes that produce disabilities like deafness or dwarfism.

The article reviews the use of preimplantation genetic diagnosis, or P.G.D., a process in which embryos are created in a test tube and their DNA is analyzed before being transferred to a woman’s uterus. In this manner, embryos destined to have, for example, cystic fibrosis or Huntington’s disease can be excluded, and only healthy embryos implanted.

Yet Susannah A. Baruch and colleagues at the Genetics and Public Policy Center at Johns Hopkins University recently surveyed 190 American P.G.D. clinics, and found that 3 percent reported having intentionally used P.G.D. “to select an embryo for the presence of a disability.”

In other words, some parents had the painful and expensive fertility procedure for the express purpose of having children with a defective gene. It turns out that some mothers and fathers don’t view certain genetic conditions as disabilities but as a way to enter into a rich, shared culture.

It’s tempting to see this practice as an alarming trend; for example, the online magazine Slate called it “the deliberate crippling of children.”

But a desire for children with genetic defects isn’t new. In 2002, for example, The Washington Post Magazine profiled Candace A. McCullough and Sharon M. Duchesneau, a lesbian and deaf couple from Maryland who both attended Gallaudet University and set out to have a deaf child by intentionally soliciting a deaf sperm donor.

“A hearing baby would be a blessing,” Ms. Duchesneau was quoted as saying. “A deaf baby would be a special blessing.”

Born five years ago on Thanksgiving Day, the couple’s son, Gauvin, was mostly deaf, and his parents chose to withhold any hearing aids.

Controlling a child’s genetic makeup, even to preserve what some would consider a disease, is the latest tactic of parents in an increasingly globalized society where identity seems besieged and in need of aggressive preservation. Traditionally, cultures were perpetuated through assortative mating, with intermarriage among the like-minded and the like-appearing.

Modern technology has been adopted for this purpose; for example, a quick Web search reveals specialized dating services for almost any religious or ethnic subgroup. Viewed in this context, the use of P.G.D. to select for deafness may be merely another ritual to ensure that one’s children carry on a cultural bloodline.

Still, most providers of P.G.D. find such requests unacceptable. Dr. Robert J. Stillman of the Shady Grove Fertility Center in Rockville, Md., has denied requests to use the process for selecting deafness and dwarfism. “In general, one of the prime dictates of parenting is to make a better world for our children,” he said in an interview. “Dwarfism and deafness are not the norm.”

Dr. Yury Verlinsky of the Reproductive Genetics Institute in Chicago, who also refuses these requests, said, “If we make a diagnostic tool, the purpose is to avoid disease.”

But both doctors said they would not oppose sending families to other doctors who might consent.
Today, parents increasingly use medical procedures to alter healthy bodies. In 2003, for example, the Food and Drug Administration granted approval to Eli Lilly to market human growth hormone for “idiopathic short stature,” or below-average height in children — to make them taller, purely for social reasons. Theoretically, almost a half million American boys qualify for treatment. Why, some may argue, should choosing short stature be different?

Mary Ellen Little, a New Jersey nurse with dwarfism, had her first daughter before a prenatal test for achondroplasia was available. For her second child, she had amniocentesis. “I prayed for a little one,” meaning a dwarf, she told me.

The wait, she recalled, was grueling, since “I figured I couldn’t be blessed twice, but I was.” Both her daughters, now 11 and 7, are “little people.”

The major barrier to Ms. Little’s simply choosing her children’s height is ease. To her, P.G.D. to select for dwarfism is too invasive; however, if having dwarf children were simply a matter of trying to conceive at a certain time of the month or taking a pill, she said, “I would do that.”

Barbara Spiegel, a homemaker in Maine who has dwarfism, had a first pregnancy that ended in miscarriage. She underwent genetic testing during her second pregnancy, and because of a laboratory mix-up involving petri dishes, was told that her child would grow to normal height. She would have loved the child, she said, but in an interview, she recalled thinking, “What is life going to be like for her, when her parents are different than she is?”

She worried that the child would be teased excessively. Ms. Spiegel’s best friend, who has average height, has a daughter with dwarfism, and the child sometimes comes to Ms. Spiegel for support; maybe an average-size child would also go to others for motherly advice. For a brief time, Ms. Spiegel grieved because she felt a dwarf baby would have been “just precious.” But after a week, the mix-up was detected and she got her wish.

Genetic testing for dwarfism has an extra ethical wrinkle. When both parents are dwarves, their embryos have a 25 percent chance of normal height, a 50 percent chance of dwarfism, and a 25 percent chance of what is called a double dominant mutation, which is usually fatal soon after birth. Because many dwarf mothers worry that their fetuses might have the fatal mutation, those who conceive without assistive technology, like Ms. Little and Ms. Spiegel, often undergo amniocentesis or chorionic villus sampling to detect double dominant mutations. Many consider abortion if the test is positive — but many would carry either a dwarf or an average-height child to term.

Preimplantation genetic diagnosis can identify embryos with double dominant mutations, so they can be discarded before implantation, while preserving embryos destined for either dwarfism or average height. In dwarves, then, P.G.D. could help avoid many doomed pregnancies if double dominants were never implanted. But then a choice would have to be made, since the genes are known. And many dwarves might select embryos for dwarves — although others might choose those for average-size children.

Dr. Stéphane Viville, who first reported P.G.D. for dwarfism in 2003 in France, used it to eliminate embryos with dwarfism among couples where one member was a dwarf and the partner had average height. Interestingly, if confronted with a situation where both parents were dwarves, Dr. Viville says that he most likely would implant only an embryo destined for normal height — and forbid not only double dominants but also dwarf embryos.

I think Dr. Viville fears that P.G.D. could be used willy-nilly to make genetic freaks. Yet the same fears pervaded the issue of in vitro fertilization decades ago. The small number of P.G.D. centers selecting for mutations doesn’t bother me greatly. After all, even natural reproduction is an error-prone process, since almost 1 percent of all pregnancies are complicated by birth defects — often by more disabling conditions than dwarfism or deafness.

More important, as a physician who helps women dealing with complex fetal diseases, I’ve learned to respect a family’s judgment. Many parents share a touching faith that having children similar to them will strengthen family and social bonds.

Of course, part of me wonders whether speaking the same language or being the same height guarantees closer families. But it’s not for me to say. In the end, our energy is better spent advocating for a society where those factors won’t matter.

Dr. Darshak M. Sanghavi is pediatric cardiologist at the University of Massachusetts Medical School and the author of “A Map of the Child: A Pediatrician’s Tour of the Body.”
This is a strange story in many ways.  First of all, I don't see little people as disabled.  Not in the same way that a hearing-impaired person is.  

A person with a hearing impairment is at risk, in ways that a hearing person, big or little, is not.  Fire alarms, car horns, air-raid sirens are of no use to a hearing impaired person.  This does not make them less of a person in any way, but it does mean they have a very real disadvantage in a world set up for people with five working senses.  Communication with the world at large can be a serious issue.  And then there's the issue of missing out, on all the varied ways that sound can be instructive, enjoyable and even transcendent. 

Little people are subject to prejudice, and obnoxious behaviors from the ignorant, boorish and cruel.  But so are certain racial groups.  The structure of the human environment can present difficulties, but the world in general, is able to be navigated and/or manipulated in various ways.  

But people of minority races face the same prejudices, boorish and obnoxious attitudes as well.  Often these prejudices reach a potentially lethal pitch, as we have seen all too much of late.  That doesn't mean minorities should stop having babies like themselves.  Logically we should all learn to embrace people of all ethnicities. All people should have the same respect, get the same treatment and have the same rights.    

But I have always imagined that a good parent wants what is best for their children.  And I cannot square that with the wish to intentionally bring a child into the world with a disability.  

In the normal course of life, there are too many children born with a range of disabilities.  Many of them are given up by their parents because they are unwilling to deal with the child's disability, or they feel incapable of doing so.  I feel that a child would be better off not living with parents who view them with resentment or distaste. But clearly, those children have the need for loving and nurturing parents who with prepare them for life in a world full of people who do not share their disabilities.  

Rather than create children with disabilities, why not choose to adopt those who exist already? 
Being little kept the people in the story below alive.  But they were subjected to egregious cruelty and pain for the same reason.  

from: ekathimerini.com

In May 1944, all 12 members of the Ovitz family were deported to Auschwitz. It appeared that they were destined for extermination in the gas chambers but their death was averted by the infamous Nazi doctor Josef Mengele, who picked them for genetic experiments.

“I was saved by the grace of the devil,” Perla, who was 20 at the time, said in an interview with Israeli journalists Yehuda Koren and Eilat Negev, who tell the story of the Ovitz family in their book “Giants: The Dwarfs of Auschwitz.” The book was recently published in Greek by Pigi.

The Ovitz family came from the village of Rozavlea, in northern Romania. The father, Rabbi Shimshon Eizik Ovitz, a dwarf, married twice and had 10 children. Seven were dwarfs. “The seven kids had a talent for music and went on to set up their own ensemble in the 1930s,” Negev said in an interview with Kathimerini. The so-called Lilliput Troupe performed all over Romania, Hungary and Czechoslovakia until all of its members were arrested and sent to Auschwitz in 1944.

Their life at the [Auschwitz-Birkenau] concentration camp was a mix of “normality and hell,” Negev said. [Dr.] Mengele went to great lengths to keep them alive so that he could conduct his notorious experiments. The seven Ovitzes and their relatives – including several fellow villagers who pretended to be relatives so that they too would be spared the gas chambers – were given their own room and their own clothes; they enjoyed better meals; they were under a sick form of protection. “[Dr.]  Mengele would pull out healthy teeth, pluck hairs and extract bone marrow. He subjected them to painful experiments on a daily basis in order to uncover the secrets of genetics,” Negev said.
The Daily Mail

'To choose deafness is almost like child abuse': Hilary Freeman and her deaf brother Jeremy

Read Hilary's  thoughts on choosing a disability HERE

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