SCHL test

[candiebar76]

My son Maxwell (5) has a scheduled sweat chloride test on Monday (the day before he turns 6). I am concerned for many reasons. The doctor ordering the test has also tested Max for IgG deficiencies, they came back clear.

Maxwell has had recurrent sinusitus since birth, along with Failure to Thrive (4 mo.), Hyperthyriod (4 mo.), anemia (7 mo.), tonsils & adeniods removed at 3 yrs. (previous DR. claimed that was what was wrong with sinus'. Didn't change anything). He has been on some sort of antibiotics, and allergy meds since 4 months old. The new dr. wants to rule out CF but why is he running the test. It was the first thing that came to his mind. Do Dr's. do this if they don't think the child could possible have it? Should I ask why we are not doing a DNA test?
Candie Bar afraid to find out

 

[julie]

The doctor is doing a sweat chloride test because that is the cheapest and fastest way to diagnose CF. Of course it is not all inclusive. Same goes for the DNA test though. There are over 1300 known CF Mutations and new ones being discovered all of the time.

Quite a few people on this site have passed the sweat test and then later (sometimes years later) are diagnosed by a DNA test.

Others have been diagnosed by a sweat test and wish to find out what their mutations are. So they have a DNA test and the results yield no CF mutations on only 1, but clearly they have CF because of the positive sweat test and the CF symptoms.

So you see, neither method is 100% sure.

Hope this answers your question,

 

[Alyssa]

Ditto to Julie (as usual)

The sweat test is the cheapest and fastest way to find out -- but you can get a false negative -- be sure to ask what the results where (what was the number) If you have time, please read the first entry on my blog about my kids experience with diagnosis and sweat test results. But the short answer is if they tell you it is negative but his results are anywhere in the high twenties, I would insist on genetic testing.

Sure Dr.'s can order the test even if they think it is "not" what the patient has -- they do need to "rule it out" to make sure that is not what they are dealing with so they can continue to search for another reason for the problems. The symptoms you have listed are fairly common symptoms of CF, so I would embrace this doctor's efforts in wanting to pursue this information. I know finding out is terrible & scary, but the positive side of it is that he will benefit from getting the diagnosis because he will get the treatment that he needs and his health will most likely improve with the proper treatment.

Please be sure to let us know what happens.