I Have a Hereditary Visual Disability – Is My Son a Ticking Time Bomb?

by ParentCo. October 18, 2017

blurry little boy walking in kitchen

“There’s a blood test for that now,” said the neuro-ophthalmologist, my fourth in 15 years. I had sensed that my last specialist was missing something. I was right. Some background: When I was 23, I started losing my eyesight. Over a two-year period, my once-20/20 acuity dipped to 20/30, 20/40, 20/50. Meanwhile, visual field tests revealed sizable blind spots in my central vision. Doctors with increasingly long, intimidating titles took turns ordering bloodwork, CT scans, MRIs, even a spinal tap. The problem was clear – my optic nerve was deteriorating – but the reason was not. One said I probably had multiple sclerosis, another that I’d likely go mostly blind. Fortunately, both were wrong. At 20/60 corrected with gaping bilateral blind spots, it suddenly stopped getting worse. That was 2004; mercifully, since then my eyesight is largely unchanged – shoddy yet stable. Fast forward to present-day. Apparently, a blood test now existed for the malady that, for over a decade, had been my diagnosis by default: Dominant Optic Atrophy. A rare, often progressive disorder generally not detected until adolescence, DOA ranges in severity from asymptomatic (no measurable vision loss) to legal blindness. Loosely defined and erratic in impact, dominant optic atrophy is a vision impairment wildcard. Mine stabilized, but others aren’t so lucky. That brings us to “dominant,” which is medical jargon for “hereditary.” For someone with an 18-month-old son, that’s one hell of a word to place in front of “optic atrophy.”

Too see, or not to see

As it turned out, the test was inconclusive. “You probably still have it in one form or another," my doctor said. Despite a lack of clear-cut DNA evidence, my symptoms – when weighed against the ailments already ruled out – still pointed to some variation of dominant optic atrophy. It was, at best, a semi-relief. In this case, no news was "less-bad" news. Of course, I'd been prepared for bad news. My condition, and longstanding diagnosis-via-educated-guess, was well-trod territory for my wife and I as we decided to become parents. It wasn't as if my offspring would certainly, or even probably, develop DOA. But the risk was – and still is – there. But this latest failed attempt at a precise diagnosis plunged me into the depths of this decision-making process. If new, more worrisome news about my condition’s hereditary nature surfaced today, would it stop me from having another child? Under what scenarios are the risks too great to justify having kids? At what point does procreation’s selfless genesis intersect with ill-advised selfishness? For now, my questions are hypothetical – since Nicholas, my son, is not. But for prospective parents with chronic hereditary medical conditions, exploring this has merit. Here are three important considerations:

What are the exact chances of passing this condition to my child?

My two-year, diagnosis-less ordeal gave me a precarious peek behind the retractable hospital curtains. My scariest surprise: Getting a straight answer out of a doctor can be amazingly difficult. Doctors hem, they haw. They’re afraid to lose credibility, lose a patient, lose a lawsuit. And they love to insist you’re imagining symptoms that are literally right in front of your eyes (or in my case, aren’t). Genetic disorders have a broad range of pass-along rates depending on their nature. A doctor – even a specialist – may not fully understand the likelihood of your offspring developing your ailment, especially if your illness is rare. So ask questions. Be persistent. Be annoying. And if you’re not satisfied, get second and third opinions. Your future child’s well-being is too important to take “I don’t know” for an answer. Your goal is to find, within reason, the exact chances of your children contracting your disorder.

Could my child live with this?

We want the best for our children, but for prospective parents with hereditary illnesses, the best may be far from perfect. For us, having kids is a gamble, and the genetic slot machine may align unfavorably. We must consider the “what ifs.” Suppose your child contracts your illness. Many chronic hereditary conditions – myoclonic seizures, for example – have variable expressivity; the effect on one person may be mild, while another suffers worst-case symptoms. It’s a known unknown. Often, all we have to go on is our own symptoms. It’s honest assessment time: “Can my child live a happy, fulfilling life with this condition?” My visual impairment is frightening, frustrating, and frequently humiliating. Everything from driving to reading to watching TV can result in throbbing headaches. I can’t golf (what ball?), ski (what tree?), or play paintball (friendly fire!). It affects nearly everything I do to some degree. I wouldn’t wish this on anyone. But this isn’t about wishing. It’s about living. Despite these struggles I have a wife, a promising career, wonderful friends. My life is not only livable but enjoyable. I am cautiously optimistic that my son’s will be as well.

What are the psychological factors?

My two-year period of acute vision loss was one prolonged panic attack. When it finally leveled off, the calm-after-the-storm left me mired in deep depression that requires professional help to this day. This isn’t about toughness or fortitude – it’s about your child’s chances for happiness. No doctor can deduce this; it’s up to us to assess the known facts as objectively as possible and decide based on truth rather than instinct. Our natural biological imperative must be temporarily ignored for sane decision-making. As cold as it sounds, sacrificing someone’s long-term happiness for the short-term joy of holding a baby in one’s arms is selfish. Though I concluded there were too many X factors to pass up fatherhood, if my son is legally blind 20 years from now I may regret that decision – and it will be on me, and me alone. I’m not ready to face that – I can barely type it – but it’s true. We must consider the consequences. Because of course, there’s a third path between procreation and childlessness. Hereditary illness is a key reason parents choose to adopt. Perhaps no better example exists of something wonderful arising from something terrible.


ParentCo.

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