Get this. Turns out, after two years of genetic research on my brother Dan, the only living developmentally disabled sibling and subsequently myself, I have the same gene mutation as my four disabled siblings. Actually, it's what they call a microdeletion on the 17th chromosome in each cell in the body; we're missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. Koolen de Vries Syndrome it's called. And this was the cause of the cataclysm that befell my family.
Thanks to Dr. Keith Vaux, a medical geneticist affiliated with the Naval Medical Center in San Diego and the subsequent funding by the Rare Genomics Institute in Los Angeles, after nearly 30 years (for me personally) of trying to discover the reason behind our family tragedy, we thought there was a neatly conclusive answer once and for all. But after the discovery of a gene mutation on brother Dan's genome, they analyzed my genome as a comparison. To my surprise as well as that of the geneticists, I carry the same genetic abnormality.
My quest over the course of the last couple of years has been two-fold. First, to uncover the genetic explanation for four out of six children being born with serious disabilities with no prior history on either side of the family and second, to come to understand my incredible good fortune in having come away unscathed. Or have I?
When I spoke with Dr. Vaux, he admitted to being perplexed and told me we are actually almost back to square one in our full understanding of the genetic causality. This particular genetic abnormality is not typically inherited and usually is a one-time event in any given family. "The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development" (nih.gov). The questions remain, why my family and why four? What were the ameliorating factors for myself and Mary enabling us to function normally and avert the fate of being institutionalized as the other children in the family were?
The KANSL1 gene is involved in controlling the activity of other genes and in the development and function of many parts of the body (nih.gov). The mind-boggling array of symptoms in my siblings include brain abnormalities, unusual head shape, abnormal facial features, developmental delay/ intellectual disability, skeletal abnormalities like curvature of the spine, spondylolisthesis (vertebrae move out of position) sunken chest, as well as organ deviations like heart defects, stomach and kidney issues, skin and hair problems, crossed eyes (strabismus) etc.
Two siblings were born with many of these consequences (profoundly disabled), one with fewer (severely disabled) and brother Dan with fewer still (higher functioning). Autism was a diagnosis for all four. Even sister Mary was born with strabismus and spondylolisthesis. Other than a heart murmur when I was a baby which has since gone away, nothing else has emerged for me. The question in all of it is why. Why not me? Is there a genetic reason that, even though I have the mutation, it didn't express itself? Could something emerge at another time down the road? Am I in denial and have just been fooling everyone for all these years?
You want to know what I think? This might be crazy but I think the extraordinary connection I have had to my body not only saved me emotionally but physically as well. This led me to become an artist and to focus my experiences into creative expression. This is probably compatible with my other delusions about being special or chosen, extraordinary in some way. But until I get the scientific evidence otherwise, this is what I will choose to believe.
There's been lots of research on the correlation between mental illness and creativity. "Creativity is akin to insanity, say scientists who have been studying how the mind works" (bbc.com). The ability to "think outside the box", or divergent thinking is a characteristic of some of the world's leading artists, writers and theorists like painters Vincent Van Gogh and Salvador Dali, writer Sylvia Plath and mathematician John Nash (A Beautiful Mind). Creative people, like those with psychotic illnesses, tend to see the world differently than most. The distinction is in the ability to channel such thinking.
I mean think about it. I grew up in the same environment with the same genetic disadvantage. The only ameliorating factor I can think of is having come to know my body so intimately and having inhabited it so completely that it kept the expression of the genetic mutation at bay. My childhood isolation led me to seek refuge in the outward expression of my unique inner world. And I take no credit for this, by the way. It was never a decision I made to be bodyful. No ego gratification here. Perhaps if I believed in guardian angels that might explain it. Maybe it wasn't my destiny and I was meant for something different.
And so the quest continues to make sense of it all scientifically, emotionally and spiritually. To understand what compelled me to trust in my body above all else and to seek ever deeper experience of and connection to myself through my physical expression. To determine the reason I dodged such a mind-blowing bullet in my life. I will continue to push for further genetic research all the while delving deeply into the experiences of my life to provide another kind of understanding. Thanks for joining me in this detour. Now back to my story.
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