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Posted By : motheroftwo - 3/23/2004 4:45 PM
Hi, I am 37 and have recently been diagnosed with Atypical Cystic Fibrosis by a geneticist.  The adult CF team is not too sure the agree because my genetics are different, but they are treating my symptoms.  My lungs are very healthy:  I have asthma and am more likely to get infections, but am otherwise in good shape.  My sinuses are strange and I regularly have sinus infections.  I am on digestive enzymes and am very grateful for the relief from pain, etc.  I am wondering if anyone else out there shares my genetics or knows about my combination.  I have one allele that has a 5T variant with a M470V polymorphism and another allele that has a 7T variant and a M470V polymorphism.  Any information would be very helpful. 

Posted By : putsman - 4/23/2004 5:14 PM
Hi,
 
I am a 40 yr. old female also just diagnosed with Atypical CF, although I do not have the same mutations as you. I have had chronic sinusitis for many years. I have had 4 surgeries with numerous polyps, 6 PICC lines for IV therapy for Pseudomas and
horrible headaches. I am sick of taking pain pills. What enzyme is it you are taking that is alleviating your pain???? My doctors all state that this is something they do not know a lot about.
Any info you can share would be greatly appreciated.
Once I receive a reply I will gladly share an email address so we could better correspond. Thanks, Diane
 

Posted By : SUE L - 4/25/2004 9:08 AM
MY DAUGHTER IS 15 AND HAS BEEN SICK ALL HER LIFE. HER GENOTYPE IS M470V AND DELTA F508. SHE HAS SEVERE FOOD ALLERGIES, STEROID DEPENDENT ASTHMA, OSTERPEROSIS, ACID REFLUX AND SINUS CONCERNS. SHE IS TAKING ANTI IGE SHOTS AND A FULL SPECTRUM OF ALLERGY/ASTHMA MEDS;; SHE IS NOT UNDER CONTROL AND WE COULD USE SOME HELP. SHE HAS NOT BEEN DIAGNOSED WITH CF AT THIS POINT. DENVER HOSPITAL HAS BEEN SUGESTED.

Posted By : putsman - 4/25/2004 9:36 AM
Do you have any idea how many mutations they have tested your daughter for? There is a Genetics Lab in California called Ambry Genetics that tests for more than 1000 mutations. Most labs out of our local hospitals test for 80 mutations at the most.  They have a website and you can call and discuss her situation with a genetic counselor. Maybe they can shed some light on the situation for you and help point you and your doctors in the right direction.  www.ambrygen.com.
 

Posted By : SUE L - 4/29/2004 9:39 PM
THE MUTATIONS WERE FOUND;;;THERE IS NO NEED FOR FURTHER TESTING. THE CONCERN IS THE PHENOTYPE CONSEQUENCES OF THE GENOTYPE IDENTIFIED. WHAT IS THE RELATIONSHIP BETWEEN THE GENES IDENTIFIED AND HER COMPLICATED MEDICAL HISTORY?

Posted By : SUE L - 4/29/2004 9:39 PM
THE MUTATIONS WERE FOUND;;;THERE IS NO NEED FOR FURTHER TESTING. THE CONCERN IS THE PHENOTYPE CONSEQUENCES OF THE GENOTYPE IDENTIFIED. WHAT IS THE RELATIONSHIP BETWEEN THE GENES IDENTIFIED AND HER COMPLICATED MEDICAL HISTORY?

Posted By : putsman - 5/3/2004 6:59 AM
That is why I am saying to contact this lab or any other so you can speak to a genetic counselor and get answers to your questions. A lot of doctors do not know about Atypical CF as it appears to be a relatively new form of CF.

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