Jan 6, 2011

Agent #5

The Teenager hiding.

A while back The Teenagers neurologist wanted me to take her to Genetics again. I'm thinking, what's the point but I dutifully obliged. They re-did her chromosome analysis figuring we are more sophisticated than we were 17 years ago with her first round of genetic testing. All tests were within normal limits at that time. About a month after we went to the lab I got a phone call. They wanted to see us again.

Seems the teenager has a very small interstitial gain in copy number within chromosome #5 band p15.2 detected with 12 clones from positions 13,846,857-14, 225,128 encompassing at least 0.38 Mb using the new 105,000 Clone Oligo array.

Impressed? Don't be. I copied it from the 4 page results report.

What did we gain from this appointment?

I learned that chromosomal deletions are worse that chromosomal gains.

I learned that anything measuring over 0.5 Mb's is always clinically significant. The Teenagers abnormality measured 0.38.

I learned as I sat there listening to this very bright geneticist and her
hot equally intelligent resident that we have come a long way in testing but that we have no data base as of yet to determine if all of these new findings have any clinical significance and we probably won't for a long, long time.

The only disease associated with this particular #5 area is Ciliary Dyskinesia which usually manifests itself when an infant is born with the heart on the wrong side. (situs invertus) and is caused by an embryonic disruption not a gain like The Teenager has. This would not explain the substantial hypoplasia of her cerebellum, brain stem and proximal spinal cord. Or at least we don't think so at this point.

Iris/Virus who also attended the appointment made two astute observations.

"I just love a handsome scientist." (yes,that resident was smokin' hot)
:
"I think the extra chromosome piece might explain The Teenagers gift."

Ah, the gift. I hadn't even thought of that one.

For some time now The Teenager has moments of intuitiveness that the rest of us do not possess. Case in Point: Bed Bath and Beyond.

A few years ago The Teenager and I were in Bed Bath and Beyond or at least we were attempting to enter the store. The Teenager immediately put on the brakes and began screaming she was afraid. I was mortified as the cashiers were stationed at the entrance and all eyes were focused on us.

"I'm afraid. I'm afraid of this roof!"

My embarrassed coaxing only made it worse.

"Danger! Danger! This roof is not right! This roof is not finished! Danger!"

"DDDDDAAAAAAAAAAAAAAAAANNNNGGGGER!"

The next day during a huge rainstorm the Bed Bath and Beyond roof collapsed on the cashiers. Fortunately, no one was killed. I wonder to this day how many of them remember the scene we caused the day before.

Two weeks after the incident a friend called me. "You know the roof wasn't finished. There was an article in the Times today stating it had never been inspected." I got goosebumps.

After a few of these incidents one is tempted at times to pick her brain...

"So sweetie...what's your take on the recent Arkansas bird kill?"

It simply doesn't work that way.

I believe we are composed of body, soul and spirit. As one friend pointed out, "there's obviously nothing wrong with her spirit man." She is most definitely in tune with a realm we mere mortals with no number 5 gains struggle to comprehend.


Until Genetics can come up with a better explanation I'll go with Iris theory. And I kind of like Iris's new nickname for The Teenager.

Agent # 5.

10 comments:

Elizabeth said...

Awesome post. I loved every single word.

Bonkers About Buttons said...

you never fail to make me smile or laugh - keep up the exceptional work - your agents will reward you (tho' maybe not always in the way you would like!)

Michelle said...

You know, I have that photo framed in my house. It's one of my favorites!

Diane said...

Love the picture...I will print it out to frame also!
This Bed Bath and Beyond story is goosebump causing .... I agree
" there's obviously nothing wrong with her spirit man "!!

Lilith said...

A gift indeed.

I've wondered lately if the gains in the field of genetics would explain Katie. The doctors have never found a cause for her handicap and I finally gave up looking. I've always wanted to know though, not because I think she needs to be fixed but because I just like to know.

Island Rider said...

WoW!

Jennie said...

Hee hee... we got some good pics that day. Agent #5... perfect.

Kathleen Scott said...

Part of what I love about peeking into your life is how things come to unexpected balance. Like the Teenager's gift.

Have you tried her on Lottery tickets?

SECRET PEPPER PERSON: said...

Lillith: I often wonder the same thing as a nurse working with special kids. How much of this will be explained with more sophisticated testing when we have the appropriate data base.
Kathleen: LOL! As i said in the post, ":it doesn't work that way!" I have neighbors who we lived with for 6 weeks when we had $30,000 worth of house damage from a pipe burst (ceilings down, etc) experience her gift up close. We tried asking questions and at one point got a "Yeah yeah yeah blah blah blah" answer. It just pops up out of the blue.

ANewKindOfPerfect said...

Genetics is so tricky. We recently learned that Emily has an abnormal SCN1A gene. This gene is known to cause epilepsy. However, her specific mutation/variant is abnormal and the neurologist and the lab have no idea what it means. So it could be the reason behind her epilepsy and potentially ALL her medical issues, or it could be nothing.

Go figure. Until then, I am going to continue calling it Emily Syndrome.

I love Agent #5, the nickname is awesome. :)