I DO NOT BELIEVE MY DAUGHTER IS "JUST' A CARRIER.. PLEASE HELP??
My daughter was Dx as a carrier (heterozygous) to mutation of delta 508. We did Ambry genetic testing after BOTH sweat tests were positive and intermediate. It was the ambry amplified CF test.. . she also had sweat tests twice. first one was positive . second one was "intermediate". (63) and then (46) .How can carriers have intermediate sweat tests???? Isn't it possible that she could have a "lesser" mutation on another gene that has not been identified yet, or that the genetic testing did not reveal based on the fact there are over 1500 different mutations/possibilities? I do not know if I am a carrier or if my husband is, or both of us. Neither of us were tested to know for sure. My daughter has always been small for her age, below 5% for height, and last year, developed a cough that has Never ever went away. They are treating her for "asthma" but she has not responded to the typical asthma therapy...she has been on sytemic steroids for most of 2011. Now she has adrenal insufficiency and it has ALL been related to this chronic cough. She now has a chest oscillator she uses twice daily for 20 minutes (HillRom Vest) with Xopenex nebs... this seems to help, at least thwart off more serious infections, pneumonia, etc.. Last year alone, she was on antibiotics 11 times, had pneumonia, had tubes put in her ears for recurrent OM, and sinusitis. CT scan of her sinuses showed sinusitis both acute and chronic. .....how can anyone explain the sweat test values--not once, but twice? And all of her symptoms of respiratory illness? (she was tested both for allergies and a huge immune work up) --all negative--... Is there anyone out there that can confirm my suspicions that she does have some "mild" CF, atypical, or the absence of "proof" does not mean she DOES NOT have something wrong with her? Thank you!!!! Kateps, she is 8 years old..
