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Late diagnosis

How common is a late diagnosis?

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In Canada in 2016, 20 out of the 122 newly diagnosed were adults, compared to 60% that were identified by the age of 1, in part due to newborn screening; so not common, but not unheard of.

Also in 2016, CF experts from 9 countries came to a consensus as to what they consider to be CF which could also impact the diagnosis of older patients who may not meet the "classic CF" symptoms of the past, but still be on the CF spectrum. Older diagnoses often have at least one rare mutation which presents as less severe symptoms, have a single organ involvement such as just GI or lung issues, or symptoms have progressed to the point that CF seems more likely. Here is the scholarly article about it and while it talks predominantly about diagnosing children, adults would fall under the "non-screened individual" in the "all populations" categories.

level 1

Not very. Depends how late. Most newborns show signs within the first year.

level 1

Anecdotally - my fiancé got diagnosed when he was 8, and his sister was in her 20s. I’m not sure what the statistics are. There are more thorough and accurate tests these days than there used to be, so it depends on when the person was born.

level 1
CF ΔF508 / Y161D1 point · 5 days ago

I was almost ten. Sibling was 14

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