Hey Brad, if you get positive/negative sweats what gives the diagnosis

bmombtoo

New member
Hey Brad,<br>
Now you have me wondering about Josh's test? Two different
hospital's the positive of 70 used the left arm. Hopkins used the
right arm and got a 15. Did I read somewhere it should always be on
the right arm ?<br>
My other question is: is a mutation CF or a CF carrier? Josh's doc
is checking for genetic mutations?
 

julie

New member
I can't answer the first part of the question because I simply don't have the answer about right/left arm, although I'm sure someone does.

As far as the genetics, A person who has 1 CF mutation is considered a carrier. A person who has 2 CF mutations HAS the Cystic Fibrosis disease. Here's a link to my website where I have some more information about the passing down of mutations and a table (I'm a visual person) that might help put it in perspective. <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismaleinfertility.com/Where_to_begin_carrierTesting.html
">http://www.cysticfibrosismalei...n_carrierTesting.html
</a>
What Josh's doctor is checking for is to see if he carries 2 CF mutations, and therefore has CF. The genetic testing is not 100% either (just like the sweat test) because most doctors only test for the most common CF mutations, which is between 25-97. There are currently 1300 KNOWN CF mutations and more found all of the time, so a genetic test is not 100% conclusive EVEN if you go with the extended panel test. So it would be very necessary for your son to have an extended panel test through something like Quest Diagnostics or Ambry Genetics. It is quite a bit more expensive but they test for the 1300 known mutations.

Best of luck and keep us posted!
 

Brad

New member
You may want to have them done again,,,

They did both arms at the same time.

the first time they noticed this , they

tested me five times, not I can light
a flash with no batteries lol
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Brad</b></i>

You may want to have them done again,,,



They did both arms at the same time.



the first time they noticed this , they



tested me five times, not I can light

a flash with no batteries lol</end quote></div>

So that means you have some spark to ya yet !
 

sue35

New member
Am I totally not understanding the chart or in the pictures shouldn't the CF parent be all pink. In the chart they are half pink and half blue. I am horrible at this stuff so maybe I am wrong...I just don't understand it<img src="i/expressions/face-icon-small-confused.gif" border="0">

Great site though<img src="i/expressions/face-icon-small-smile.gif" border="0">
 

julie

New member
You are right Sue, thanks so much for pointing that out. I did it late at night one time (the update) and must have duplicated the wrong ones. Off to fix it...... Thanks for pointing that out!!!!!!!!!!
 

sue35

New member
No Problem....the site is so amazing and helpful I think you are allowed a mistake here and there<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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