April 11, 2006 at 3:44 pm #171204677357
I probably did overstate the importance of knowing what mutation you have. One of the problems I see with CF verses something like cancer is the lack of staging. In cancer, you are diagonsed with a type of cancer and a stage (like stage 1,2,3 or 4). That staging tells a lot. Based on that, treatments are formed, life expendicy given, and down the road it is a base line that other doctors can compare to. CF doesn’t have anything like that.
My daughter had a broad gentic study done. They weren’t just looking for CF because as I stated, they had already ruled it out. My mother-in-law presented some CF related symptoms and we finally forced her to get a study done. That’s another story, she was playing ostrich thinking what she didn’t know wouldn’t hurt her. She came back with some mutation that wasn’t CF, but did display CF related symptoms. Mainly, she has to take supplimental enzmynes.
I did attempt to add that a lot of our problems with the sweat test was the lab and incompement people at the time. As all of you know, a bad experience can often times created unfounded negative feelings toward something. In our case, it was the sweat test. I can rationally say that I shouldn’t be all against sweat tests, but I am because of the road my daughter went down after a false reading from the test.
I don’t know a lot of details about hte gentic study, but I am suprised to hear false readings. I would have thought that if they found abnormal genes, they would report that. It would then be the doctor’s decision as to whether it would be a problem. Maybe not.JustMeMemberApril 11, 2006 at 10:20 am #171204677337
Dyza here again ,my son’s 2 sweat tests came back negative, his doc
says this means he has it mild, his words not mine.It meant that we
had to retest our daughter’s blood as her sweat test was also
negative,thankfully she is only a carrier.As for all this genetic
testing, I am curently attending the doctors to see if I have CF or
not, as i have 2 mutations ,clinically speaking I have CF, but the
2 mutations i have are identicle, no trigger gene.The doctor called
it CFDR disfunction. After May i will have a better picture of
things, but its all rather confusing and to a certain degree
upsetting, especially for my wife.
CraigJustMeMemberApril 11, 2006 at 10:06 am #171204677336
you lucky people, we have to wait at least 6 days here in
Scotland.All tests are tested in one hospital,[Yorkhill in Glasgow]
so I guess its a time thing.My boys nurse tells me that they save
up all the pooh samples and do all that testing in one day,[ dosn’t
bear thinking about].lukeMemberApril 11, 2006 at 12:24 am #171204677198
My son’s first sweat test was positive (wescor) and we were told within 20 minutes. The second sweat test (gibson/cooke) was positive and we were told the next day. His mutations have not been found (genzyme and then Ambry). We are going to explore the option of Quest next, I think.April 10, 2006 at 11:22 pm #171204677162
Courtney is also………
DF508 and one unknown mutation. They still diagnosed her by her symptoms.
SeanaApril 10, 2006 at 11:20 pm #171204677160
Also right now although the mutations you have is a nice thing to know, its not that important as there are currently no mutation specific treatments.
So its no as important as that one poster makes it sound.April 10, 2006 at 11:18 pm #171204677158
Genetics testing still misses a good number of cases! Especially if they do the standard CF genetics instead of quest or ambry(which most insurance won’t pay until the standard one has been done)
I have 1DF508 and 1 unknown, if we had gone by genetics testing I might not be here!
To me the place to start is the sweat test and basic genetic testing for CF and see what comes up.
The sweat test is still the gold standard and picks up cases genetics testing doesn’t(and vise versa)
I know of a little girl with CF, positive sweat test, typical symptoms, treated for CF and diagnosed at a CF clnic. Evne ambry hasnt been able to identify her mutations yet. Without the sweat test that little girl might not be here. Same for me as it would have been easy to pass me off as a carrierApril 10, 2006 at 10:35 pm #171204677137
DS’s was done mid-morning and we got the results back in a couple of hours. He was in the NICU at the time recovering from bowel surgery. They were pretty sure he had cf; however, sweat test did come back normal. Genetic blood tests showed he had CF. He was probably to little to get an accurate test result. LizaschmemiMemberApril 10, 2006 at 10:33 pm #171204677135
Thanks for the replies. I had thought you could get them in a timely manner but wasn’t sure how fast. Thanks! I’ll let you know soon.April 10, 2006 at 10:16 pm #171204677128
look into getting a genic study. I think the results are in in about two weeks. We got our unofficial results in a week. You can just about get one and have the results before you go in for the sweat test. Genic test covers everything, not just CF. And if you have CF, it will tell you what mutation which is very important.
My little girl came back negative on her sweat test due to lab screw up. I can pretty much say she almost died as a result as CF was ruled out and they started looking for other things. It wasn’t until later that a genic study was performed that we found out her condition. We checked into the hosiptial that day (about 2 months after the sweat test and a continue downward spiral) and the nurses didn’t think she would make it through the night.
Therefore, I’m against sweat tests. Even though the lab screwed up and my girl was to small for the test (less than 8 pounds) so it really wasn’t the “sweat test’s” fault, I’m still agianst them.April 10, 2006 at 9:45 pm #171204677117
Also…..Courtney had sweat tests in 3 different hospitals, in 2 different states and 3 different cities, so I would think it would be the same everywhere.
SeanaApril 10, 2006 at 9:44 pm #171204677116
We got my son’s sweat test the same day of the test, just a few hours later. My son’s pediatrician called on the phone with the results. Be vocal in letting the doctor know you want to know the results right away.April 10, 2006 at 9:43 pm #171204677113
When Courtney had her first sweat test the hospital called and left a message before we were even able to get home. 2nd, 3rd, and 4th sweat tests we had the results in a matter of an hour.
I was told the sweat test takes only a matter of minutes to get the results.
I would call them today and say you want the results.
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