I look back now as though it has been a decade of history instead of just 357 days.
I hope that knowledge was power for me, because instead of being torn down by my unchangeable DNA, I was empowered. My life today is completely unrecognizable from my reality a year ago. I am a different person - a new person, really. Do I like this new woman, who seems to have a stronger spine and a harder edge but a softer, more empathetic heart?
I guess that isn't for me to say.
I am happy for the women who have come up behind me for exomes - it seems that more families are seeing the benefit of this technology. It is providing answers where there wasn't any before, and that's powerful. I also see that insurance companies are much, much faster to deny the tests, but that research groups and even the labs themselves are picking up the insurance slack for the greater good.
I do still firmly believe that every single tested exome brings us closer to both overall and specific understanding of genetic disease. Every single person is a link in this long, long chain of knowledge. I believe that so much of what we think we know about genetics and genetic disease are guesses and theories and that a lot of those theories are wrong. I believe that those links of knowledge will shine brighter lights on the connections between things as common as Trisomy 21 and as rare as Congenital Disorder of Glycosylation 1g.
I leave this post with a bit of happiness - a glimmer of hope where I had none before. I introduce Clark to the blogosphere. He is three months of soul-saving love. He is smiles and cries and he holds my heart with the eyes I dreamed for his brother John and the smile I dreamed for his brother Drew. He is, by scientific definition, even more rare than his brothers. Clark is only the second known person to carry his particular microdeletion on Chromosome 22, gene ALG12. His father is the first one.
How about that for the most scientific paternity test in history?
Meet my son:
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