Tuesday, February 24, 2009

Inside my veins runs information, therein lies an explanation...


It's been WAY too long!! Sorry, but again, I certainly don't lack anything to write about. I will be putting up posts from Dec-Feb, but will also be updating... no worries, loves! I guess it's just when I think about how long it's been... really, it doesn't make sense so I won't attempt to explain.

December 17th saw me marching into the University of Washington hospital, to get a blood test I had requested. One that would, hopefully, reveal just why it is that my ears refuse to yield any noise to me, and remain blissfully unactivated... unlike my wonderful implant.

I waited.... I waited....

And waited some more.

Frustration ensured. Then I finally had the sense to just sort of forget about it.

Despite the fact I was anxiously excited.

Part of it was that I hoped, with this diagnosis, I could effectively have a REASON for my deafness. But what really prompted me initially? My fear of going blind. Yes, a somewhat irrational fear to some of you, perhaps. The more I thought about it though.... the nagging question of "What if?" haunted me.

As a child, my parents were told of the dismal possibility of their firstborn child, already deaf, perhaps one day becoming blind. At nighttime, my mother would spell out letters in my hand in the dark, under the guise of it being a fun game. It was with that sudden memory that I, biting my lip, decided I HAD to know why I was deaf.

With deafness, also usually comes a degree of visual impairment if you have one of various syndromes. It was the thought of that hidden monster, waiting to pop out from under the bridge.

Medical folks are at this point, long accepting of the fact I am deaf. They no longer ask why. I wanted that "Why."

I finally got the answer.

After repeated calls, and me INSISTING on an answer when I was told they finally had one, on the almost last day of January, just when the month was drawing to a tired close, and asking them to have the surgeon email me the answer....

I laid down on the plush worn-out couch in an old dorm of mine, and FELT almost certain in a instinctual sense, that I knew the final result already, as though it being etched in my DNA entitled my body to sort of an intrinsic knowledge.

My phone vibrated, stirring me out of my half-asleep stupor. "Jay Rubenstein" was the sender.

On Fri, 30 Jan 2009 10:33 am, jay rubinstein wrote:
the test is positive for you having a genetic hearing loss

it would be worthwhile for you to come see me at some point to discuss the implications of this in the future

the questions you may have are likely too complex to discuss by email

I quickly typed back, "which connexin gene was it?"


I found out later, through Dr. Google, that this gene is located on Chromosome 13*. This is the same gene that goes awry in Down Syndrome children, causes the characteristic whiteness in people with Waardenburg, and finally.... "nonsyndromic deafness."

And there we go.

While we are at it, I 110% recommend that you get tested for this if you are deaf and don't know why, or have deaf relatives! Even if you think they've run every test possible on you, get this test done because apparently, this was not run on me in 1989. Perhaps it was not around then.

It does have implications, which I will cover in my next post, including having deaf children, because it is GENETIC.

My reaction? To come soon! That is definitely a whole another post in itself.... But think about this. I am 19 years old. Ever since I was diagnosed at six months old, with profound deafness, nobody has had an answer. The best given us was simply "it's probably genetic."

*Source: http://ghr.nlm.nih.gov/gene=gjb2