by Emil D. Kakkis
February 18, 2010
World Rare Disease Day is on the 28th of February, and I wonder about people who think this doesn't matter to them, and whether they understand anything about rare diseases and their own genetics. It has been estimated that everyone has about 4-6 defective genes, but few know this or understand its implications. So while some may think that rare diseases are things that happen to other people, the truth is that it has already happened to all of us. Some of these genes might be hidden or recessive and hanging out waiting to affect your future generation. Some may be causing an unrecognized problem now or will predispose you to a problem a year or 10 years down the road.
We may not know now what defect we each carry, but with the advent of inexpensive total genome sequencing for individuals, we soon will. What will each of us do when we know for a fact that we are not perfect, and that we are carrying genetic defects?
Some worry that it might cause untold grief and worry and worsen hypochondriacs. It might also cause a boon to the nutritional supplement industry and homeopathic and other remedies that will claim benefits to help those with one or another genetic defect, with sales driven by fear. It might cause people to avoid having children or to over-analyze their progeny and over compensate. Helicopter parents might end up flying "helicopter gunships" around their kids trying to control and hold the genes at bay.
Despite all the crazy things we might do knowing our real nature, I think it could be beneficial to have the recognition that rare diseases affect all of us profoundly each day, whether we know it or not. We might find more compassion in our hearts when those affected are not seen as different and separate, but rather as part of the greater "us". It might build our desire to help and contribute to efforts for rare diseases as they become more personal to all of us. It could readily make us better people by knowing that imperfections are perfect.
We might finally realize that rare diseases are not about us and them, but about all of us.
62eb3721-6b7d-4c41-8ac3-a247d8f0dbbd|1|5.0
Tags:
General
