This morning a colleague forwarded me this video which I dare you to watch without a box of tissues. The first thing I thought was If it were my daughter, I’d do the same thing. I’d do whatever I could to raise this money.
As her parents describe in the video, 4-year-old Eliza has Sanfilippo Syndrome. It’s a terminal genetic disease. It is degenerative and Eliza’s quality of life will continue to deteriorate as she gets older. She may seem like a normal fun-loving kid today, but she’ll only get worse to the point where she won’t be able to walk, talk, or feed herself and she’ll be in considerable pain. As a parent myself, I can’t think of a worse fate for a child than to lose all that she has gained … and on top of that, to be in pain. And to watch helplessly as a parent. The one hope for this family is a very promising clinical trial this fall that doesn’t have enough funding to continue. And of course if it can’t continue, Eliza can’t get the treatment which could very well save her life. I encourage you to read her story and if you can, also donate to the fund. For so many children with genetic diseases, there is no cure. For Eliza there may actually be one. And if she were my kid, I’d be fighting like hell to make sure she got it. Wouldn’t you?
Earlier this week, the media was again abuzz with the long-debated question of ethics when it comes to genetics and babies. The spark? 30-year-old Amanda Kalinsky—a woman diagnosed with Gerstmann-Straussler-Scheinker disease, a rare genetic neurological disorder that will lead to a slow, painful (and by all predictions) premature death. Though immediately after her diagnosis four years ago she vowed never to have children in order to cut off the head of the GSS snake, The New York Times reported that Amanda and her husband Bradley now have three children thanks to genetic testing and in-vitro fertilization.
The Kalinsky’s doctors created 18 embryos, tested all of them for the GSS gene, and implanted only the 12 without it. My first reaction is that this is an amazing breakthrough. A woman who wanted very badly to be a mother without passing on a terrible fate is now Mommy to three kids. Thanks to the availability of testing, she didn’t have to play Russian roulette and hope that a naturally-conceived child would be born without the gene —or have to debate aborting a fetus who tested positive for GSS during prenatal tests. She also didn’t have to forego motherhood (and her husband didn’t have to forego fatherhood). Not to mention, if doctors were able to do this for GSS—a rare disease—this could mean that we may be able to avoid passing along so many other diseases to future generations.
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At the same time, this is not an equal-opportunity solution. The procedure cost the Kalinksys $20,000 for the first round—which they paid out of pocket because many insurers don’t cover this. So are we saying that only wealthy folk get to eliminate their diseases? What about people who can’t afford this? Are they subjected to the choice of taking their chances versus no children, at all?
But questions of who can take advantage of this aside, there is one huge question we need to ask ourselves: Should we be doing this at all? Will we continue to use this technology to prevent disease, or will it evolve into so much more? I am all for giving every child the best shot we can at a healthy, happy life. But is that really what’s going on? As of a recent international survey, 2 percent of over 27,000 uses of preimplantation diagnosis were actually to choose a child’s sex. Clearly, not a life and death matter.
I have a hard time believing that we will be able to keep the uses of this technology limited to “the right reasons.” And even if we do manage to pass laws and regulations about this technology (to keep it preventing diseases rather than brunettes), something tells me we may be drunk with power—believing that eliminating embryos of one gene means there are no unknown or other harmful genes lurking inside. But I have to say that in my opinion, if we have to put up with some people choosing girls over boys or blue-eyed kids over brown-eyed kids so that others can (to the best of their knowledge) choose healthy kids, then that’s the bullet we bite.
Yet, all this talk of genetic diagnosis reminds me of the other side of the genetics debate: genetic engineering. Last year Intelligence Squared sponsored a debate about whether or not we should prohibit the genetic engineering of babies. The most striking point was that genes do not occur in a vacuum. Genes interact with each other to create traits such as brown hair, fair skin, genius intelligence, or disease. By removing or altering a disease-causing gene, scientists cannot automatically declare victory. Disrupting the natural order could invent a new disease. It could cause the original gene to mutate and become alteration-resistant. Bottom line: We do not yet know the consequences of this.
When it comes down to it, here’s where I fall (for now): Genetic testing, yes. Genetic engineering, no.
What do you think about this hot-button issue? Sound off in the comments below!
Like any parent you’ve probably felt that way now and then—I know those twinges come more and more often as my kids get older. But I can’t imagine anyone who has yearned more desperately to stop the clock than Leslie Gordon and Scott Berns and their teenage son Sam, who are the focus of the wrenching but wonderful new documentary “Life According to Sam,” which premiers Monday, October 21 at 9 p.m. ET on HBO (check local listings). Sam has progeria, an incurable genetic disease that speeds the body’s natural aging processes. By the time kids with progeria are 9, they resemble elderly people, with hair loss, muscle loss, brittle bones and the least visible but most dangerous symptom: the blood vessels of an 80-year-old. Virtually all of these children suffer heart attacks and strokes; on average they do not live past age 14.
Progeria is one of the rarest diseases; only 250 children worldwide have it. So drug manufacturers aren’t exactly racing to find a cure. That’s why soon after Sam’s diagnosis in 1998, Leslie and Scott, both doctors, founded the Progeria Research Foundation along with Leslie’s sister Audrey Gordon. (I first met Scott through the March of Dimes, where he is a senior vice president and I am a board member.) PRF quickly raised over $1 million and 4 years later had found the gene for progeria. The film chronicles the family’s race to study a drug therapy for the condition in a trial at Boston Children’s Hospital, even as they also slow down to savor the time they have together.
“I didn’t put myself in front of you to have you feel bad for me,” Sam says early on in the film. “I put myself in front of you to let you know that you don’t need to feel bad for me. This is my life. Progeria is part of it. It’s not a major part of it. It’s a part of it.” The family’s ability to keep up with everyday life in the face of this disease is remarkable. Sam goes on a ride at an amusement park and cracks two ribs, but he also goes to school, plays sports and enjoys rock concerts. He is fragile but extraordinarily strong.
People “take time for granted,” says Leslie midway through “Life According to Sam.” Anyone, but especially other parents, will be awed by the family’s courage and amazed that they could spare one single moment of their time together to share their experience. “Everyday what I’m thinking of is how to save the kids and how to save Sam’s life,” says Leslie.
You will find yourself rooting passionately for Sam and his family and all the other kids in the trial, who come from around the world because the PRF is their best hope. (Parents who loved “Miss You Can Do It,” from the same executive producer, Sheila Nevins, can expect to be similarly wowed by “Life According to Sam.”)
Sam allows himself to be documented in excruciating detail in his quest for a cure. His deed is a gift to the children with progeria who will continue to come after him and whose families already line up outside Leslie’s door, looking for a cure. But by putting themselves in front of the camera, Sam and his parents give a gift to all of us, a reminder of how fast the days pass. Watch it as a reminder of how very much we should value our fleeting moments together. But most of all, watch it to meet Sam, and to celebrate each passing birthday with him.
Genetic testing, and prenatal screening more broadly, have become a fact of modern pregnancy. As an Ashkenazi Jewish couple, my wife and I have been tested for a staggering array of disorders, a number that has expanded with each of her three pregnancies. From well-known illnesses like Down syndrome to virtually unknown ones, many of which are specific to certain ethnic groups such as ours, these tests offer a degree of knowledge about your growing baby that previous generations would have considered unimaginable or the stuff of science fiction.
Parents.com recently published a series of articles on prenatal genetic testing, which explain the “whats” and “whys” of the process, but it was one article on the emotional side of genetic testing that caught my eye. This is a part of the process that I find is rarely discussed. In our data-driven, Google-at-our-fingertips culture, we are hungry for more information. But what do we do with that information once we have it? That’s where prenatal testing gets difficult–and, for some, is a reason to avoid it altogether.
Doctors often perform these prenatal screening tests as a matter of course, and just assume that that knowledge is essential. However, the implicit–and sometimes explicit–assumption of testing seems to be that a woman will abort her pregnancy if a serious problem is discovered. And that’s obviously not a choice everyone is willing to make, regardless of the consequences.
My wife and I struggled with this issue with every pregnancy and even before we started trying to conceive the first time. Would we bring a child into the world knowing he or she will suffer greatly or live a tragically short life? Where is the line between loving every life and having compassion on a suffering being? What diseases would we consider too horrible for a child to suffer from and which ones might be manageable?
The issue is more than theoretical to us. Our sweet, resilient, and amazingly positive 15-year-old nephew has a rare disorder called Familial Dysautonomia, a neorological disease that he’s dealt with since birth. As a result, he is developmentally delayed, consumes food through a stomach tube, can be difficult to understand when he speaks, suffers from frequent pneumonias, cannot feel pain, had major back surgery recently, and deals with countless other health problems. In addition, a dear friend of ours died several years ago in her early 30s from Cystic Fibrosis. Today, both of these disorders are among the many diseases tested for as a matter of course in prenatal testing. (Showing just how effective screening has become, some diseases typical of Jews are mostly affecting non-Jews these days, having been, in effect, “screened out” of the Jewish population.)
Amy Julia emailed me these bits of advice for people considering whether to have prenatal testing and concerned about what to do with the results:
Because every pregnant woman will be offered prenatal testing for genetic conditions, every pregnant woman should spend some time thinking about what genetic information she wants about her baby and why she wants that information. Information is not neutral.
Doctors can provide a medical context for genetic conditions, but they are not trained to offer a social, educational, or familial context. As a result, many pregnant women receive a prenatal diagnosis with lots of medical information that seems partial or less significant than a fuller picture of life with the genetic condition might offer. Women need to seek out counsel and information that goes beyond the medical realm.
Spending time with a family or two who have children with that condition can be a helpful way to begin to imagine a different life, full of new possibilities even as it is also full of new challenges.
In the end, my wife and I decided to have most of the tests–not because we knew what we’d do in every instance and eventuality, but because we felt that knowledge is power. Knowledge would allow us to learn, prepare, speak with others, assemble our support network, and steel ourselves for what is to come. We are planners. And these tests would have allowed us to plan. Thankfully, we’ve never had to face these questions beyond the theoretical realm, a conclusion that we are extremely grateful for.