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Old 02-26-2008, 12:30 PM   #2
Ratatosk Ratatosk is offline
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Join Date: Nov 2003
Location: Midwest
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Re: anyone with cf with low normal sweat test?

Ugh, I've heard similar stories before from people and how frustrating it is to get a diagnosis. People whose children were misdiagnosed with asthma for years. One was a young mother with cystic fibrosis, who wanted to make sure her son was fine. Her husband had passed the intitial carrier testing -- only tested for about 85 mutations. Had a sweat test done on her son and it was in the teens, basic screening (32 mutations) on her new baby. But she still wasn't comfortable with the results. So she pushed for more tests -- her husband WAS a carrier and her son DOES have cystic fibrosis.

I don't understand why an accredditted CF facility like the one you went to would treat you and your child with such disregard. What harm does it do them to do an amplified genetic screening such as ambry or quest? Went thru a similar situation with DH's cousin. Knowing that our child had CF, she wanted carrier testing done prior to conceiving a child and she couldn't get ANYONE to test her, even the head of the local CF program we used to attend questioned why she would want to proceed with testing. Hello!?

It's my understanding that anyone (medical professional) can order the genetic tests. I recently saw a post where someone ordered up the ambry amplified test and was going to have her regular pediatrician take care of the testing. Was probably NOT going to be covered under insurance, but this new mom was willing to take that chance.