has anyone had a child diagnosed with cystic fibrosis a little older, like 3 1/2 years old?

[Anonymous]

Hi all,

In my research, it suggests that 70% of children with cystic fibrosis are diagnosed by age 2. Our child has some digestive and respiratory issues, and at 3.5 years old, it has been suggested that we do a sweat test to rule out CF. Our younger child had a sweat test because of another lung issue and is fine (NO CF) but because of that, I don't have a concern about the sweat test itself.

I just can't tell if this is a doctor being thorough re: my 3.5 year old and there is very little chance or if he is really concerned about this possibility for my son.

If you had a child diagnosed at 3, 4, etc., with CF, why didn't they catch it younger? How did your child present? Is there such a thing as mild CF? If so, does it always get worse? Obviously, if he does have it, so far the presentation has been fairly mild (only one pneumonia, 1x 6 week course of antiobiotics for upper respiratory infection, nicu-only one week, not discovered then-had basic newborn screening, chronic gi issues).

Thanks in advance, very much, for any guidance.

[Anonymous]

My understanding is that CF symptoms and prognosis vary widely...some kids are very severe, some are very mild...depends on the type of mutation.

[Anonymous]

There are over 2000 different mutations that are possible within the gene that can cause cystic fibrosis. Some of the mutations are sever and would cause classic symptoms. Some are less severe and would present later in childhood and some are very mild and may not present until well into adulthood. Definitely a huge range of severity; it's just that the most common mutations are the more severe ones.

[Anonymous]

Thanks so much for the two responses. If you do have a child with a mild form and not a classic presentation or common/classic mutation on the gene, would he still test positive on a sweat test as having cystic fibrosis?

What is the normal range on a sweat test and what is considered high?

TIA

[Anonymous]

Unless a child is severely malnourished, a child with CF would have a positive sweat chloride test (levels above 80). Normal range is 10-35. They would normally consider it a positive even if the level is above 35, but below 80; however they should re-test to confirm the diagnosis.

I was tested as a child (maybe 2?) for CF due to a lot of respiratory issues. It turned out to be very severe asthma.

[Anonymous]

I have been tested twice for CF, both times as an adult (and both times with negative results). Both times I asked my doctor if it was possible for me to be so old (25 and 40, respectively) and have undiagnosed CF; the answer was a definitive yes. (I later spoke with another pulmonologist who diagnosed a woman with CF at age 60!)

The first time I was tested was with a sweat test. The second time was a genetic test. So that implies to me that some people might genetically have CF but have false-negative results on the sweat test.

[Anonymous]

Thank you---for the latest poster---What symptoms did you have that made you feel this would be something to test for twice?

Also, does anyone know if all CF patients taste salty? Funny question, but I've heard it is often the case and our son doesn't seem to have a salty taste when you give him a kiss on his forehead. Also, he doesn't seem to sweat a lot or have salty sweat. Are these just rumors or would we really be able to identiy a problem by the apparent saltiness of his skin?

Also, how long does it take to get the sweat test results?

Thanks again...

[Anonymous]

OP, I know that you are worried and seeking answers. The best possible thing that you can do for your family is to take it one day at a time.

Wait for the test, get the results and if they are positive THEN start worrying about CF. Don't drive yourself crazy with the "what-ifs" if you can help it.

[Anonymous]

I was diagnosed at age 16. So, yes it is possible. It just wasn't caught back then.