Press J to jump to the feed. Press question mark to learn the rest of the keyboard shortcuts
1

Late diagnosis

How common is a late diagnosis?

4 comments
67% Upvoted
What are your thoughts? Log in or Sign uplog insign up
level 1

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

Community Details

2.5k

Subscribers

11

Online

A community for people who suffer from, or know someone with, the debilitating illness known as Cystic Fibrosis.

Create Post
Sidebar

Welcome to the Cystic Fibrosis Reddit community, a place where those affected by the illness can discuss hardship, triumph, and share their stories.


Notable Cystic Fibrosis Organisations

Country Organisation
Australia Cystic Fibrosis Australia
Canada Cystic Fibrosis Canada
Europe European Cystic Fibrosis Society
Ireland Cystic Fibrosis Ireland
UK Cystic Fibrosis Trust
Scotland The Butterfly Trust
USA Cystic Fibrosis Foundation
International Cystic Fibrosis Worldwide

Mutation Frequency
ΔF508 66%–70%
G542X 2.4%
G551D 1.6%
N1303K 1.3%
W1282X 1.2%
Other 27.5%

Please speak with your doctor or dietician before altering dietary and nutritional intake or adopting additional supplements.


In memorium. For members of our subreddit who can now breathe easy:

Rest In Peace

/u/dizzzycakes - you were taken young.

r/CysticFibrosis Rules
1.
Do not ask us to diagnose your symptoms
2.
Post promotional material to the designated thread
3.
Do not promote alternative therapy
4.
Be civil
Related Subreddits
r/Asthma

5,026 subscribers

r/diabetes

31,358 subscribers

r/infertility

10,724 subscribers

r/Anxiety

213,665 subscribers

r/depression

415,282 subscribers

r/Fitness

6,678,751 subscribers

r/gainit

217,087 subscribers

r/nutrition

393,948 subscribers

r/slackerrecipes

19,996 subscribers

Cookies help us deliver our Services. By using our Services or clicking I agree, you agree to our use of cookies. Learn More.