On DNA Testing, A Murky Vision
05/14/08
Staff Writer
I’ve been meaning to have my DNA tested in hope of locating the genetic mutation that impairs my vision. The mutation makes me legally blind, leaving me unable to drive and using one of those white canes in crowds and at night. If my mutation for Retinitis Pigmentosa is found, then I may be able to have the blood of my three children tested as well. It would be helpful to know if I’ve passed on to them RP along with their brown eyes and tendency to freckle. I watch them closely for the signs — night blindness and eroded peripheral vision — none of which are, so far, in evidence. But it usually shows up in the early teen years, and only one has yet reached the double digits. Still, when an ophthalmologist last year took a superficial look at the kids’ retinas and said he could see no deterioration, I found myself unexpectedly tearing up, utterly relieved at the notion that they might be spared this disorder. I hadn’t realized how much I want that. God knows that so much is far worse than having RP. It doesn’t cause pain, you can adapt to diminished vision, and my motto is that “everybody’s got something,” some sort of disability or illness, whether it’s apparent to others or not. The advent of widespread DNA analysis — direct-to-consumer testing is a new and burgeoning market — may prove me more right than anyone really wants to know. My husband and I are inclined to get the kids tested. But as with all decisions involving genetic testing, it isn’t simple. Learning early of a genetic predisposition or mutation for a specific disease seems on its face to be beneficial, but actually is more of a curse, potentially causing unintended consequences. Would knowing that one or some of my children have RP, even if it does not presently affect their vision, change how I treat them? If they knew it about themselves before it affected them, how would they feel? It’s hard to know when to impart such information. There is no cure and not much by way of treatment. One researcher has found that consuming Omega 3 fatty-acid-rich fish and megadoses of Vitamin A seems to delay complete blindness. The greatest benefit would be to be able to prepare my child for the psychological and pragmatic challenges that come with slowly losing your vision. I know some of the pitfalls of not knowing early enough. While little probably could have been done to save my sight, knowing earlier might have done something to spare my self-image. I was diagnosed in my mid-teens, after having spent several summers at overnight camp, where I felt like a loser-klutz for constantly missing the ball in tennis and softball. Then there was a midnight hike that had my bunkmates twittering with anticipation, but me wringing my fingers to match the knots in my belly about going into the dark woods. I was soon stranded, filled with dread as I saw only the black trees looming closest and couldn’t see the ground beneath my feet. It was probably 20 minutes until a counselor came back to fetch me, but to an 11 or 12 year old, it felt like hours. Being so bad at these activities felt like a personal failing, some lack of camper aptitude or insufficient cool. I felt ashamed. And it didn’t occur to me — or any of the adults around me — that I couldn’t see. That mental tape still plays in my mind’s background, part of the hardwiring of my reactions that takes effort to dim every time I trip over a person or thing, or bump into something. If I need to travel alone in the dark, or be at a dark restaurant or party, I feel echoes of that same anxiety. I’ve learned to quickly and casually chalk up my missed social cues (those I learn about, anyway) and apparent klutziness to “oh, that’s my bad vision.” But it sucks up an inordinate amount of psychic energy to navigate ordinary life that has suddenly become treacherous because it is being seen through the narrow diameter of a straw. I want to spare my children having that tape play in their own heads. I want at least to be able to teach them to cope well with this disability so that every failure to be graceful doesn’t turn their self-image into Swiss cheese. But there are other risks, too, to having the testing done. While I’m no conspiracy theorist, concern lingers about sending this ultimate tangible evidence of our individuality out to some unknown laboratory. A leading RP researcher working at Columbia University is originally from Estonia, and at a recent talk he touted a lab in his home country (in which I’d bet he has a stake), one of a handful of places worldwide that tests for these mutations, and does it cheaper and faster than those here, he said. But send our DNA to some lab in Estonia? Sounds like the stuff of science fiction. This whole DNA testing field has a new frontier feeling to it. Every month, an academic or commercial lab finds a new mutation for some disease. But this scientific revolution seems often to outpace the ethical considerations it raises. Take that Columbia retina researcher. He said a pregnant woman with RP might want to get her fetus tested early so she could have the option of aborting it if it was positive for the mutation. I was shocked by the casual way he discussed aborting a fetus who could eventually become a visually impaired person. When I was pregnant with my youngest and getting amniocentesis, I also looked into getting the fluid analyzed for RP. But I wanted to test for RP for the same reason I want my kids to get tested now — just to be prepared. But for ethical reasons, the main domestic lab that does most of the RP testing refuses to do it on a fetus or on a child. So Estonia is where I’m sending my blood, to at least start on this journey for my children. But DNA analysis today can locate only about 60 percent of all the mutations that cause RP, so mine might not be found at all. Of course, if it is, and I can find a place that will test my children, then there is that one other potential upside — not finding it. If each of my children has won this genetic game of chance and does not have RP, then the disease ends with me. It would be my happiest day. If that’s what we learn, I’m going to have one huge, blow out party to celebrate. Everyone’s invited. Just be warned — the lights will be turned up bright. And if I bump into you while we’re dancing, don’t give me a dirty look. Actually, feel free to — I probably won’t see it anyway.

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