One parent’s thoughts on a late diagnosis

dna spiral

Graphic representing DNA

A few weeks ago our son who has severe and multiple disabilities had no specific diagnosis. Now, we seem to have hit the diagnosis Jackpot. After being undiagnosable for 18 and half years, he now has approximately 25 highly specific diagnoses as a result of a “miracle of modern science,” AKA Chromosomal Microarray Analysis.

An obvious question is: In what ways is he better or worse off as a result of this change? A slightly less obvious question is: In what ways are we as a family better or worse off as a result of this change? I simply want to share some thoughts and observations about this turn of events. I don’t actually have answers for these questions, but I am still convinced that they are pretty good questions.

First, I want to say that the news was “mind-blowing.” I tried hard to think of better descriptor (e.g., stunning, overwhelming. incapacitating, transformational), but I couldn’t really come up with one. I needed something that expressed a major impact on my thought processes, but without implying the impact was predominantly negative or positive. In fact, there were some significant negative impacts and some significant positive ones. I think there were probably more positive ones than negative ones, but the mental exercise of even trying to think of it as negative or positive, in itself distorts the experience. It is more about seeing the world a bit differently than about better or worse. In a sense, we’ve been wondering around in this kind of strange wilderness that is both beautiful and dangerous for the past 18 years, and suddenly we have been given a name and a map that explain a lot of things. Its really interesting to see how it matches up with our experience but after 18 years of experience, it doesn’t tell us too much we hadn’t figured out for ourselves. It does make it clear that there is no easy path out of the wilderness, but we had pretty much figured that out on our own. In some ways, it is a comfort knowing that there is no easy way out, because there was always a little bit of doubt, and may be we were just kept taking the wrong turns.

Second, while we are glad, even grateful to receive this information. We are also thankful that we received this news when our son has grown into a man and not when he was a newborn, or even before he was born. We’ve had lots of time to get to know him for who he is as an individual without having a diagnosis and prognosis to shape our expectations. Of course, we might feel differently if getting this diagnosis provided some magic key that might have opened the door to a better life, if we had only known it 17 or 18 years ago, but it does not. In fact, doctors who have treated David as an individual and addressed each symptom as it occurred seem to have provided at least as good care, and conceivably better care, as might have been based on a more precise diagnosis.

Third, one of the best parts of getting this diagnosis is that it allows us to link with other families of children and young adults who have received the same diagnosis. It is interesting to hear some of their stories and to start to share ours. It is a pretty small group. As of 2008, 44 individuals in 18 families had been diagnosed world wide. God bless the world wide web. We already have some contact with many of these families, mostly in the US, but also in Australia, England, Finland, France, Taiwan. So, our Dave now has his own web page on the MeCP2 Duplication website along with about 20 other individuals from around the globe.

Fourth, by now, the actual number of diagnosed cases has increased substantially and there are certainly more than 100. No doubt there will be thousands and perhaps many thousands in the next few years. The new technology that is just coming available is incredible and before long it will become more and more common. The thousands that will share our son’s diagnosis are only a tiny fraction of a tiny fraction of the huge number of genetic syndromes that will be diagnosed. The laboratories at Baylor Medical College offer something called CHROMOSOMAL MICROARRAY ANALYSIS (CMA) – 180K Oligo Array ( Also known as: CMA-HR; High Resolution Copy Number ≥ 30Kb). This single test, effectively takes inventory on 1,714 genes to see if any have been deleted or duplicated. The test is currently expensive and rarely used, but that will change over time.  While it is a mixed blessing with the the potential for serious misuse, it also has a lot positive potential… And short of civilization coming to an abrupt halt, it will not go away. So ,we better find a way to embrace it and make the best of it.

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2 thoughts on “One parent’s thoughts on a late diagnosis

  1. For us, Chromosomal Microarray Analysis was very much like the story of Eve eating from the fruit of the tree of knowledge (I’m not meaning in this in some religious sense). But we might have been content and not tempted by the forbidden fruit as long as our child was doing okay.
    But then things weren’t going so well, and we began to think just maybe that knowledge might help. We tasted it and it seemed good, but in that moment our world was forever transformed… awesome in some ways and awful in others… and yet our world had not changed at all, we just viewed it through a different lens.
    It is that thirst for knowledge along with the faint hope of helping one’s child that will fuel demand for this test. As they say in the movie trailers, “coming to a laboratory near you! Watch for it.”

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