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Posted By : myangel - 4/5/2004 1:30 PM
My daughter has gone through all of the testing for CF twice in the past 5 years and has still not been diagnosed because they cannot identify her gene mutations. She has a confirmed sweat test reading of 59, has shown asthma symptoms all of her life which are steadily getting worse, and she now shows the presence of p aeruginosa in her sputem test. She is now 8 years old and I am making apointments for yet another doctor to have all of the tests redone and pray for a diagnosis so that someone will treat her for this bacteria before it is untreatable. Has anyone else with undetectable gene mutations gone through a similar situation and have advise on how to get my daughter the help that she needs?

Posted By : BoeJaker - 4/12/2004 12:19 AM
The only advice I would offer, since it is not mentioned, is get the testing done at a certified CF Center. They can be located at If you are not getting the testing done a a certified center, or feel you are too far away from one or whatever - find a way to get to one as soon as you can. Also, if the sweat test was not done at a certified CF center, have it redone at one. A sweat test value, if done correctly, does not change regardless of health conditions of the patient at that time. You mention "yet another doctor". Make sure the doctor is part of one of those centers. Good luck.
BoeJaker 51 wcf

Posted By : Hopey's mom - 5/16/2004 9:27 PM
I am a mother of a five year old recently diagnosed with CF. Her sweat test levels were 69,69, 69 and 71. A gene test was sent to Ambry labratories and they identified a common gene and a very rare mutation.

We are patients through a CF Center. It is absolutely crucial that you visit a CF Center. They have a team of doctors that will approach ALL of your child's problems and some of yours!

You must fight for your child- you are their advocate and don't let any doctor dismiss your concerns. It took us five years to be diagnosed because my daughter's symptoms weren't obvious until a few months ago. We had taken her to see a Pediatric Pulmonologist at one of the best medical facilities in the nation/world and they DID NOT DIAGNOSE HER.

Good luck and God bless!

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