No wonder this is so confusing to people. That cf centers would call Buckeye's son's case A-typical and my son's case A-typical just goes to show you that A-typical is just that not usual or the same. They couldn't have more opposite cases really...Buckeye's with all the symptoms but no mutations and Isaac's with 2 mutations but no symptoms. I should be fair the clinic did not say to definitively call it A-typical. They couldn't diagnose him with cf (see criteria below) and therefore told me to call it what I wanted. Half cf, A-typical cf were suggested. In our family we just refer to it as cf-presently assymptomatic. He is followed as a cf patient and does cf lung treatments that won't harm him even if he never becomes symptomatic. He does albuterol and uses the Respirtech Vest. When he gets a cough that lasts more than a couple days we treat it with antibiotics to prevent any damage. He gets all the tests cfers get at clinic appts to help all of us understand his case better.
I wanted to mention that I also used to bash the sweat test as old fashioned, worthless, yadda, yadda but after all OUR DISFUNCTION IS DUE TO OUR SCREWED UP CHLORIDE CHANNEL. Case in point with the Vertex drug, our symptoms would be greatly reduced if the chloride channel was functioning even partly.
I'm going to post the definition of cf diagnosis I referred to in a previous post of mine.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.rsmpress.co.uk/S43_2.pdf">Link</a>Here's a link to a good article on A-typical cf.
The definition for cf diagnosis according to a US consensus panel approach to diagnostic criteria for cystic fibrosis.
One or more clinical features consistant with CF:
- chronic sinopulmonary disease
- gastrointestional and nutritional abnormalities
- salt loss syndromes
- male urogenital abnormalities resulting in obstructive azoospermia.
OR
A history of CF in a sibling
OR
A positive newborn screening test
AND and increased sweat chloride concentration by pilocarpine iontophoresis on two or more occasions
- or identification of two CF mutations
- or demonstration of abnormal nasal epithelial ion transport.
I've been wanting to post this for a while. I'm glad I finally did. I hope it helps someone.
I wanted to mention that I also used to bash the sweat test as old fashioned, worthless, yadda, yadda but after all OUR DISFUNCTION IS DUE TO OUR SCREWED UP CHLORIDE CHANNEL. Case in point with the Vertex drug, our symptoms would be greatly reduced if the chloride channel was functioning even partly.
I'm going to post the definition of cf diagnosis I referred to in a previous post of mine.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.rsmpress.co.uk/S43_2.pdf">Link</a>Here's a link to a good article on A-typical cf.
The definition for cf diagnosis according to a US consensus panel approach to diagnostic criteria for cystic fibrosis.
One or more clinical features consistant with CF:
- chronic sinopulmonary disease
- gastrointestional and nutritional abnormalities
- salt loss syndromes
- male urogenital abnormalities resulting in obstructive azoospermia.
OR
A history of CF in a sibling
OR
A positive newborn screening test
AND and increased sweat chloride concentration by pilocarpine iontophoresis on two or more occasions
- or identification of two CF mutations
- or demonstration of abnormal nasal epithelial ion transport.
I've been wanting to post this for a while. I'm glad I finally did. I hope it helps someone.