Does anyone know if you can "pass" a sweat test and blood test and still have CF? I am 50, have chronic bronchiectasis since teens, have had 2 lobectomies and been dealing with pseudomonas since 1997. I've needed prednisone on a continuous basis for the last 3 years or else have fever and breathing deterioration. Does anyone know if glutathione can help or substitute for prednisone - I'm very worried abouth the prednisone side-effects.
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Undiagnosed
- Thread starter anonymous
- Start date
This is a very fuzzy area for many physicians. Because CF research has discovered so many mutations of the CF gene, diagnosis and the "cut off" line when to make it has become blurred. First I have to ask, did you have you test done at an acredited Adult CF center? If not, seek one out at the foundation website, cff.org. This is very important. The clinic should also be able to direct you to a genetics specialist.
I was speaking with my CF docs one day after they had returned from the national conference and they said that there were docs out there who were not making diagnosis' for people who were clearly suffereing from symptoms, like your own, yet their test was borderline.
It sounds to me like you could have a mutation of CF and it is worth knowing. There are cases of symptomatic carriers as well.
I hope you find answers.
Debbie
23 w/ CF
I was speaking with my CF docs one day after they had returned from the national conference and they said that there were docs out there who were not making diagnosis' for people who were clearly suffereing from symptoms, like your own, yet their test was borderline.
It sounds to me like you could have a mutation of CF and it is worth knowing. There are cases of symptomatic carriers as well.
I hope you find answers.
Debbie
23 w/ CF
Have you ever had a cilia biopsy to determine if your cilia work properly? If not, I'd request one. An ENT can do one from your sinus/nasal passages or you can have one done in the lungs through a bronchoscopy. Read up on "immotile cilia" or "primary ciliary dyskinesia". It's an inherited defect of the cilia. It also generally causes male infertility. THe respiratory symptoms are <b>very</b> similiar to the symptoms of CF but the cause is different. Treatments are very similiar, including using the vest, etc. I hope that helps. Good luck!!!
Last poster again - Just wanted to say that besides asking for the cilia biopsy, I'd request genetic testing for cf through Ambry. More than likely your genetic test was through one of the other labs like genzyme which only test for the most common mutations. If you do have cf and had a truelly negative sweat test, then you'd be more likely to have a rare mutation that would be picked up on those panels. I'd request both. And, no, I'm not a cf patient or parent of a cf patient. Just a parent who has done tons of research, seen multiple pulmonologists, ENTs, and allergists and is still seeking a diagnosis for my child. Like you he has had a negative sweat test and negative genetic test through genzyme. When he has his next sinus surgery, the ENT will be doing the ciliary biopsy. Not before because they put children under general anesthesia. We'd rather wait and have them done together. (He's 6 yrs old, this will be his second sinus sugery). One more thing, do you have problems with sinusitis? Chronic sinusitis is pretty much a universal symptom of people with PCD.