Whirls of Distinction

When one says “oh it is in my genes,” this is the generalization of gene inheritance. In high school biology class, you may have experimented with recessive and dominant genes, and learned combinations for certain features. If you are a female, like me, you may have even gone as far as planning what type of genes you were looking for in the man to be the father of your child/ren!

In Archer’s case, the long, curly eyelashes came from my dominant genes and thankfully he got his dad’s toes, however his genes had a few hiccups of their own, considered to be variants of unknown significance. Think back again to biology class, the parts of the organisms, maybe even the songs you made up to pass the tests, specifically the spiral like structures with “arms” housing the DNA, this is where Archer has a duplication and a couple of deletions. Three of his genes have “arms” either with extra material or lacking codes to complete the sequence. Long story short, the exact location of variance is so rare, it is believed the result of this was his many brain malformations, but the genetics world has yet to research in these distinct areas leaving us with no answers for as to how and why the variants are correlated. 

A geneticist, I consider to be the only one I will allowably let judge Archer’s book by the cover. My boy loves being stripped down to his diaper, better yet if on the crunchy paper of the examination table, wiggling with excitement from the feedback of the smooth, yet very noisy material! He checks for the edge of the table, learning it is beyond his reach to crawl off on to the floor. So to avoid the fight, we move to the cushioned bench, sitting and bouncing singing the new songs we are learning in music class, awaiting the doctor and genetic counselor.

“What can WE do for YOU” are the first words out of the geneticist’s mouth. Not once, in all the specialty doctor appointments, have I been asked this question. Let alone it be the first exchange after the customary handshake! This simple act of empowerment, uplifted my labors as a mother. 

As the appointment progressed the term being used frequently became “very distinct features.” So I asked her to explain these distinctions. And this is where the incredible capacity of genetics shows through. His whirls!! All along I thought it was my curly hair inheritance. Yet that wild and crazy hair indeed not curly but whirly! The physical body’s expression through his whirls, represents the neurological anomaly of: periventricular nodular heterotopias! Another feature the geneticist was able to detect by visual examination was the slight downward tilt from brow bone down to the bridge of his nose. I’m thinking, so you are telling me, two of my son’s most adorable features, besides that smile which really is from me, tell the story of what potentially is going on inside that brain of his. Remarkable science this is. 

Interestingly, the geneticist shared, when her journey in genetics started out (her age didn’t show at all, I’d say we are living in the same decade of life) around 15% of genetic variations were being explained, now it has increased to 20%, so there is hope in the future, but for right now Archer remains to be a one of a kind. I left the appointment inspired! My job continues to be the act of manifesting his future, empowering him to make history awakening outcomes!


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