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Posted By : jweglarz - 5/15/2011 10:59 AM
Hi everyone. I am new to this site as I have been looking into CF. My son has been sick since the age of 3 months old. He has had chest infections after chest infections, sinus infections galore, ear infections, ear tubes placed 2x, adnoids removed. He has been on pumicort, xopenex, oral pred, antibiotics, hospitalized 2x. We have been told that all this issues can be caused by allergies, but is is only allegeric to grass. He has been on singular for over a year and its not helping. His dr thinks it could be asthma, but the daily treatments he has been doing for over a year are not helping as every month he is still sick. He will be put on meds for a week to 14 days, then as soon as he is off them he gets sick again with wheezing, coughing, sinus related issues.
We saw an immunologist and they ordered CT scan and chest x-rays. The CT scan showed his sinus' are totally blocked and will need surgery. The chest x-ray showed a mass in his lungs. For now he is being treated as if he has pneumonia till we see the pulmonologist. They also want a sweat test done. My question is could my 3 year old have CF even though no one in our family has this? Wouldn't the dr have known about this at the newborn screening? He has had no growing issues or intestnial track issues. But has had severe upper GI issues as a newborn.
Any information would be great appreicated. I welcome all thoughts and insights. thank you.

Posted By : jodad - 5/23/2011 1:37 PM
Some gene mutations that create CF aren't tested for in normal screenings (during pregnancy etc). Some mutations lead to children passing sweat tests (including in newborn screening). Finally, some mutations leave individuals pancreatic sufficent, with normal digestive situations.

Generally, though not always, this would be "mild" (or "nonclassic" or "atypical" CF) with a good chance that it won't cause as much problems as classic CF. For what that's worth.

Learning about this with my son, who we arrived at a diagnosis with despite him being in those camps and being generally pretty darn -- knock on wood -- healthy at this point. Thought I would share because it sounds terrible dealing with all that you're going through plus the frustration of the medical mystery.

Posted By : Wiley Coyote - 2/12/2015 12:41 PM
Its very possible that newborn screening did not pick up a less common CF mutation. Most people with CF have NO history of it in their family. Get a full genetic test from a certified Cf center and a sweat test. Please keep us posted.

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