Why? And does why matter?
/A mother holds her baby, gazing at every detail, memorizing every quirk and curl. And then… there is something wrong, something “off.”
The fear and doubt that enters the mother’s heart is insidious, and the way our culture is, the mother inevitably wonders if it is her fault.
This happened with my mother and me, in the most literal sense. My mother found that while holding baby me, I didn’t look at her. Being a young 25-year-old mother on her second baby, after a very “easy” first baby, she says she was sure it was because I didn’t like her and she was a “bad mother.” We chuckle about this now, but ruefully, because mother blaming is still a painful issue today.
Image via pixabay
Even so, because she was a good and attentive mother, she took baby me to the local doctor, who dismissed her concerns out of hand. She says she was a flaky, self-absorbed young mother, but the next part of the story doesn’t bear that out She lived in a tin-roofed shack with no indoor toilet and had no money or influence, yet somehow she got me seen by a specialist ophthalmologist over the mountains in the next state when I was just six months old.
And sure enough, her mother’s instinct was correct. There was something wrong. I was almost entirely blind. To make a long story short, I still am. This was 1976 and it has never been that surprising to me that nobody knew why I was blind. There were a lot of medical things people didn’t know back then. But I’m somewhat less blasé about the fact that doctors still don’t know why—nearly fifty years later.
When I was a small child, doctors speculated about something called “ocular albanism.” Essentially, while everyone is familiar with albinos who have white hair, extremely pale skin and weak eyes, there are even more rare types of albanism which only affect the eyes. And this was their best guess about my vision impairment.
However, that generally only happens in families where ocular albanism has cropped up multiple times over the generations. It’s the type of genetic disorder where both parents have to be a carrier of a very rare trait in order for it to occur in a child, which is why it most often happens when the parents are already closely related. And still, even if both parents are carriers, there is only a 25 percent chance that a child will have the disorder while 50 percent of the children will be carriers for another generation. And if one parent is not a carrier, the children are unlikely to even carry on the genetic marker and will never manifest the disorder.
Yet, no one knew of anyone on either side of my family having significant vision problems. Back in 1976, doctors just shrugged and moved on. There was so little known about genetics at the time.
My mother also wondered about other possible reasons for my eye problems—her stress during pregnancy, exposure to something someone might have slipped into her orange juice or maybe it was “bad karma.” Mothers almost always do this—doubting and berating themselves when there is something amiss with a child.
But recently, I was given the opportunity to undergo extensive and focused physical and genetic testing to try to understand once and for all, why my eyes are the way they are. Fortunately, it is one of those things interesting enough to science that studies will cover the exorbitant costs.
I’ve already undergone three days of intensive physical testing—ncluding painful and bewildering eye exams, a test I call “the most boring video game ever” and a very strange experiment that involved sitting in complete darkness for thirty minutes and then having fine wires draped inside my eyelids while flash bulbs and strobe lights broke the darkness abruptly.
But that’s not even the fun part. Doctors have also asked, repeatedly, about every health hiccup I’ve had or my family has had in known history. In the case of my extended family, the information available is rather scarce. There was enough conflict and trauma in my grandparents’ generation that we had very little contact and no intimate knowledge of family history. As kids, we simply got the impression our parents had both been lucky to survive and get away to start a new life.
But now some digging is required, at least, if I want to find an answer and possibly allay my mother’s irrational pangs of guilt. When I returned from the latest round of testing and endless questions, I took a walk on the ridge where my parents live in a tricky April Fool’s blizzard. Then, chilled and red-cheeked, I stopped in at Pa’s cabin-come-workshop.
He asked about the latest trip to the city and I explained and told him about some of the questions. For Pa’s benefit, I mimicked the hypersensitive geneticist: “We need to determine if there were any… er… particularly close connections, I mean, such as between one branch of the family and other…ahem…”
They had gone on like that for quite some time, trying to hint but also clearly concerned that being hillbillies from the eastern “red” part of the state of Oregon, we might both be likely candidates for the problem they were trying to describe without naming it and also incapable of understanding subtlety.
Mama, having missed the context while dealing with my kids out in the waiting room, jumped in and started trying to parse what exactly the question was. I was by then quite tired, and I cut to the chase, “Mama, they’re asking if we’re inbred.”
The doctors were shocked into silence, but the sad truth was that our knowledge of our family tree reached back scarcely two further generations. At least in that snippet, there is no more sign of inbreeding than there is of albanism. And my parents hail from opposite sides of the country.
Finally, I turned to one of the doctors and again voiced the thing they were likely thinking but unwilling to say, “Well, but my father’s family was out in Eastern Oregon for generations and there simply weren’t that many people around at the time.” More shocked silence.
I related all this to Pa, while giggling and shaking snow off of my shoes.
But then he said, “Actually, I’d better show you something.”
He’d been doing some genealogy work and it had progressed quite a bit further than I’d thought. He showed me the record for his paternal grandfather, a man I had met as a child, who was an unredeemable racist but also a collector of fascinating objects from around the world. And from there he traced the lines to his two great great grandfathers and…. ONE… great great grandmother.
In short, my great grandfather had had two half-siblings as parents.
At first, I was thrilled, thinking perhaps we had found the key to the puzzle, but a bit of subsequent research showed that an event like that is far more common in the human population than most people think and it is very unlikely to still have dramatic genetic effects four generations later.
Of course, the doctors studying my strange and rare vision problem cautioned me that there is only some incalculable chance that the genetic testing might find a gene that could be supposed to be responsible for my difference. And if they didn’t find one, it didn’t mean that it wasn’t a genetic problem. It would simply mean that we would continue not to know.
The fact that even with all of these tests and trips across the state to the big city, we still may never know brings up the question of how much it matters.
The reason for my difference never mattered a great deal to me when I was younger. I wasn’t the kind of kid who wanted to be “like everybody else” or even “to fit in.” My older brother and I were proud of our parents’ counterculture break with the past and wore our otherness on our sleeves. My younger brother did suffer a bit, especially since we scarcely paved the way to normalcy for him.
Neither of them had any significant physical differences though. To me as a kid, it was just a fact of life. I couldn’t see the deer or the stars everyone was always going on about. Maybe it would have been too painful to look at too closely, so I held it at arm’s length and laughed brazenly at it.
So, I would never drive. Driving was overrated. I’d move to Europe instead. And that’s just what I did.
But as the years passed, I found that the reactions of people to my vision impairment—whether in the US or in Europe—were quite distressingly negative. Far from seeing it as a not-all-that-interesting minor nuisance, as I did, or even from seeing it as a hardship, the endurance of which might be admired, it was almost universally something that caused me social pain and ostracism. That, much more than any difficulty with physically seeing, became something I wanted an accounting for.
And then, there was the unexplained infertility. That hurt. I didn’t laugh at that. But I did put my chin up and soldier on, accepting my lot after six years of battle and tears, and then filling out adoption applications because “I don’t come from quitters.”
As hard as my own social isolation was, it was minor compared to the pain of finding that both of my adopted children have more serious disabilities. It can’t be genetically linked but that fact has reopened the question for me.
So, does why I’m visually impaired matter? Well, it might matter some.
I do have seven biological nieces and nephews, who according to doctors, could be carriers of the same rare thing, if the genetics theory proves to be correct. They might care to know, and if science lets them, I’m not averse to it. While I think my physical, congenital vision impairment is not all that bad compared to society’s reaction to it, social responses to it show little sign of great improvement.
The fact is that unlike some people who take on disability as an identity, it is not my identity. It is just a thing I deal with. If someone showed up with a reasonably safe cure, I’d be all for it. If someone could prevent any potential great nieces or nephews from dealing with the same thing, I’d be happy for that as well.
But I don’t have to know. If, as is likely, we find nothing conclusive, we will be no further along than we are now. The testing will either show that there is a genetic link—whether or not it is connected to great grandpa’s inbred parentage—or it will be simply unclear, which would mean I will remain a mystery.
