Tuesday, February 24, 2009

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

So...

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?"

-"
GJB-2."

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

8 comments:

Dianrez said...

It's interesting to see what chemical composition is at the root of our deafness, but not too useful unless it leads to a cure or an improvement on hearing.

Such improvement at the molecular- biological level would be superior to any artificial means such as CI's and hearing aids. That's for a future day.

In the meantime, what do we really learn as patients? Not much at present, especially when it is couched in terms such as "abnormal" and "normal" or "healthy". We learn a whole lot more about ourselves as members of the deaf community.

Connor's Mom said...

Hi Tasha!

It's nice to meet you! I love the UW campus-- it's so gothic looking, with all of the stone buildings. Very different from Texas A&M, which is where I went. We're down that way all the time for visits to Children's and drive past the campus a lot.

I'd love to get Connor CI's, but he's not a candidate for them. Right now he's not Deaf enough, for one thing-- he's just HoH. His hearing loss borderline mild-moderate in his right ear, and moderate-severe in his left ear. They won't let you implant unless you fall in the severe-profound range.

His cochlea is also shaped differently than it should be. On a CT scan it looks like a cloverleaf. They aren't sure that even if he were eventually to fall in the range needed for a CI if they could implant because of the difference in shape.

We're hoping to adopt more Deaf or HoH children from either Korea or Ethiopia. We'd certainly want to look into a CI for those kids, but we figure every kid is different, so we'll look at that when the time comes. We'll also start learning ASL in addition to the SEE we already know, since we figure those kids might be able to use it, unlike Connor whose motor skills won't let him use anything other than home signs (There are only so many signs you can do with a fist and a five hand). We're big fans of Total Communication in this house, as is probably evidenced by the SEE and the PECS and the communication augmentation devices.

Glad to see that you've found a reason for your Deafness-- we've always found that the more information you can find out this sort of thing, the better. Is it okay if I add you to our friend's list?

~Jess

Kelly said...

Hello,

I happened to see this particular blog post on deafread.com. It caught my interest because I just completed a Masters program in genetic counseling so I'm somewhat of a genetic nerd ;-)

I was skimming through some of your previous posts and noticed that we seem to have some things common. So I just wanted to introduce myself.

My name is Kelly and I'm a 25 year old Midwestern. I have a profound hearing loss and grew up using SEE (so rare to meet someone else who uses SEE). I can understand ASL but sign a mixture (more like PSE/CASE now). I find myself stuck in between both the hearing and deaf worlds.

I'm also scheduled for my CI surgery in 2 weeks (March 10th).

Even though I'm sure we have differences in our backgrounds...it is nice to know that there's someone else out there with a similar background as mine who also got a CI later as an "adult."

My blog is http://kelimalia.blogspot.com/

Erin said...

My parents knew I was deaf right when i was born (more HoH) because it took them almost a year to figure out that my older sister was deaf. so when I was born they did tests and knew. But never did any genetic testing because the technology wasn't really there. But their reasoning was probably genetic. When I was 21, I found out I had a vision loss too -- and was diagnosed with Usher's Syndrome. My older sister went to an eye doctor shortly thereafter, and they said no. A year later I took her to my specialist, and she said yes, but hers is VERY mild, the doctor had almost missed it. As devastating that is to know, it's something I've managed to cope. IN a couple months I will be going to get a blood test taken for genetics as well. Perhaps that is one of the reasons why I don't want kids. But in all, i have multiple reasons for not wanting kids. However, my older sister has 2 kids with a deaf husband, and they're both hearing. My younger sister has a baby and she's hearing. it wasn't something they really concerned themselves with however when it came to having kids. But for me, since the usher's is more prominent, it is something I concern myself with.

my web site...http://www.mylucidsounds.com

i love your writing!

Dr.Rutledge said...

Hi Tasha,

I'm a physician and former faculty member at Harvard and Stanford Medical Schools. I discovered your blog while looking for the best health writers on the web. I reviewed your posts, and think your writing would be a great addition to the Hearing Loss & Deafness Community on Wellsphere, a top 5 health website that has nearly 5 million visitors monthly. If you would like to learn more about how you can join our Health Blogger Network, republish your blog posts and be featured on the Wellsphere platform, just drop me an email at dr.rutledge@wellsphere.com.

Cheers,
Geoff

Laura's medical journey said...

i didnt know why i went deaf until 2004
when i was 19. mine also was a chromosone dna condition called mitochodrial muliple dna deletions. it is really intresting about such a small change in your dna can change you. im glad you found out why you went deaf

SANDEEP H2O said...

Your blog is quite excellent... I have read all your posts in the order of their posting and immensely enjoyed them....I am HOH and found your blog accidently at one of the forums dedicated to it....
Please start blogging soon so that all of us can read it again...
Anticipating your next post....

Leah S. said...

Ok, commenting on this really old post. Thanks for commenting on my blog! As you know, I have four kids with Down syndrome. DS is a triplication of the 21st chromosome, not the 13th. Trisomy 13, AKA Edward syndrome, is very different from Trisomy 21.