When mutations go bad...

Well, per Dr. Denen's orders I went and saw a Nephrologist yesterday (a nephrologist is a kidneys specialist by the way).

Dr. Siva Ambalavanan was awesome - extremely intelligent guy (just like me of course) -- he spent about 45 minutes talking to me about my health issues and the seizures I've been having. He did not yet diagnose me because more tests are to be done, but from everything he said, I was able to gather that he is leaning strongly towards Dent's Disease, which is caused by a mutation in the renal chloride channel. He even suggested that a case like mine would be the kind that University professors spend their entire careers studying and writing papers about. I don't know if that's good or bad.

Even worse, Wikipedia had nothing on Dent's Disease, so this morning I created an article to help novices and those looking for answers...and hopefully provide a few answers even for myself. Feel free to read a bit on Dent's Disease here.

Whatever way the diagnosis goes, I would appreciate your prayers...times are scary when you are sick and you do not know what you have.




08 Feb, 2007 | Virgil
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Comments


by Mick - 08 Feb, 2007 - 14:48:03
There goes the hopes of "Vaduva's Variant"

"Because it is an X-linked disorder, only males are affected with the disease, whereas females are asymptomatic carriers." "1 out of 10 women suffered end-stage renal failure."

For those that are interested the way a woman can get an X-linked disease is as follows. Since a woman has two X-chromosomes in each cell and only one copy is necessary for a cell to function, one becomes inactive. The process which "decides" which X-chromosome becomes inactive is random. If more of the normal "X's" are inactivated than the abnormal "X's" then the woman actually will have the disease not just be a "carrier"

by Michael Kruse - 08 Feb, 2007 - 15:22:45
Virgil, I am glad they at least seem to be getting a handle on what is happening. We will certainly be praying for some breakthroughs.

by Virgil - 08 Feb, 2007 - 15:59:53
Dr. Denen - that means that I could in fact pass the disorder to girls since they get my X chromosome, but a boy would have no chance of getting something like this because he only gets the Y chromosome?

Michael - thanks for your prayers, I really appreciate it!

by Chris - 08 Feb, 2007 - 16:36:25
That's what that means....

Unless Jamie is carrying it too.

by Mick - 08 Feb, 2007 - 16:44:13
Virgil,
That is correct in theory. I would not spend a lot of time thinking about what the girls might have until we know for sure what your diagnosis is.

I was thinking more about your sister in Romania that was diagnosed with "famial hypercalcuria". I would also wonder if a medical condition, if confirmed, would increase the chances and speed of imigration of your sister.

by Missina - 08 Feb, 2007 - 16:59:25
I'm praying for you, Virgil.

by Steve - 08 Feb, 2007 - 18:18:33
Ditto Missina on the prayers...

by Ed Burley - 08 Feb, 2007 - 19:07:24
Virgil,
my family will pray for you AND for your sister.

love,
ed

by Virgil - 08 Feb, 2007 - 21:46:26
Thanks again to all of you guys...you have no idea how much I appreciate even just the comments here!

by scotty - 09 Feb, 2007 - 15:49:00
My prayers are with you Brother! You are a great inspiration for many of us, especially me.

Jack Scott

by Virgil - 09 Feb, 2007 - 16:47:50
Jack - thanks bud...I appreciate you too.

AJ, Miller Lite? Dude....come on! It's Red Stripe or Budweiser Select for me. None of that watered down "lite" stuff. :)

by Mick - 09 Feb, 2007 - 19:55:14
A.J. and Virgil
Y
ou had to bring up beer. I really wanted to avoid the line of conversation that the sex chromosones in women were "Dos X's"

Mick

by Virgil - 09 Feb, 2007 - 22:12:01
You had to bring up beer.

I don't know why it always ends up there!! If you would rather talk technical, we can always discuss the genetic structure of the saccharomyces cerevisiae, the yeast strain responsible for the creation of beer. :)

by stuartdelony - 10 Feb, 2007 - 02:12:15
man, I'll start prayin!

by anonymous - 19 Feb, 2007 - 09:13:59
I'm sorry about the diagnosis.

In addition to thiazides, citrate has had a positive effect on mice with the CLCN5 gene (related to Dent's) knocked-out. See below:

http://cat.inist.fr/?aModel...

by Virgil - 19 Feb, 2007 - 09:47:39
Anon - thanks for pointing that out...I had no idea!! I assume by "citrate" they mean citric acid, although Wikipedia seems to differentiate between the two.

by Jl - 20 Feb, 2007 - 19:38:53
Virgil,

Citric acid. Think acid. Citrate. Think salt.

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