mY SON IS HAVEING A SWEAT TEST FOR CYSTIC FIBROSIS?

Question

he has been weezing since he was 3 weeks old he 6 months now he is on alubuterol and pulmecort nebulizer and an oral steroid to. he has had pneumonia twice. however I thought they screened for this at birth ? what are the chances he could pass the blood screening and not the sweat test?

Answer 1

I'm sorry, you are mistaken. Babies are not tested for cystic fibrosis at birth...they are tested for PKU (phenylketonuria).

If there is CF in a family, genetic testing can be done to see if a baby will be affected. This is done before the mother conceives. All other cystic fibrosis testing is done only when symptoms are present that could indicate the disorder....usually in childhood.

So, your son never underwent any blood screening for CF unless you had DNA blood testing before you were even pregnant.

BTW, my son had constant pneumonia and wheezing until he was 4 years old. CF had to be ruled out due to his symptoms and the fact that he had been born 3 months premature. He didn't have CF; his problems were all related to respiratory distress syndrome (RDS) from extreme prematurity.

Keep in mind that your son might just have a weak respiratory system and that he will outgrow these problems. The important thing is to find out if he has a medical issue which is what the doctor is doing. Good luck!

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Answer 2

Cystic fibrosis, caused by a defect in the CFTR gene, is the most common lethal genetic disorder in the Caucasian population in the United States. Despite its relative prevalance it is not routinely screened for at birth for several reasons.

There are many hundreds of possible mutations to the CFTR gene. A genetic screening test for only the 5 of so most common defects would miss somewhere around 15% of all defective genes.

Currently there are no real treatment benefits to diagnosing cystic fibrosis at birth. Most CF children are diagnosed later, before age 7, by sweat test. Confirmation by genetic screening is possible, but not necessary.

Answer 3

Honestly, my mom went through the same thing with my sister when she was a baby...they thought at first that she always had a cold, then they thought she had CF (they also did a sweat test on her), and in the end diagnosed her with chronic persistent severe asthma. It took them over 20 hospitalizations, 40 ER visits, and about 9 months to figure it out.

Have faith! And good luck to you!!