Question about testing...

[anonymous]

Hello! My son's pediatrician is testing him for CF-but he really doesn't have any respiratory symptoms. He does have some difficulty breathing through his nose, always stuffed up, but allergy medication hasn't worked. He is extremely underweight at 8 years old, only 44 pounds. We have tried everything but he will not gain weight and she has done several other tests as well. Is it possible for him to have CF and have no respiratory symptoms?

 

[Alyssa]

Yes, that is entirely possible. The good news is, if it is CF that is causing your child's health and weight problems, he should improve with the proper treatment (most likely enzymes)

If the sweat test comes in at a low number and they tell you it is normal or only borderline I would recommend asking for the full genetic testing. Read my blog to find out more details about low sweat test numbers and our experience with diagnosis.

 

[anonymous]

Thank you very much! I appreciate your help

 

[anonymous]

Alyssa, can you tell me how long genetic testing takes to come back? Nathan's doctor has done chromosomes and genetic screen on him in February, but no results yet after a month. She wants him to see a pediatric endocrinologist as well. Now after reading your story, I want to make sure they are thorough. Thanks!

 

[julie]

Nathan's mom,

if you do a general mutation CF test (25-89 mutations) it usually comes back in 3-4 weeks. An extended panel test (1000+ known mutations) usually takes 6-8 weeks to get back.

As for the initial poster, I just wanted to back Alyssa up on this one. Many people with CF with have ONLY respiratory problems and NO digestive or reproductive. Some others will have ONLY digestive (and weight/growth problems), and yet some others will have ONLY reproductive problems (namely males with CF). So it would't be at all strange or out of the norm for your child to actually have CF and have only digestive problems. He could also have very minor respiratory involvement (I say that because you mentioned difficulty breathing through nose but no allergy meds worked). I would definately get him tested. Best of luck and keep us posted on the results.

 

[Seana30]

My daughter was not diagnosed till the age of ten. She only weighed 48 pounds at the time.

It was not till I stomped my feet and said that I was not leaving till they found out why my child was not growing or gaining weight that they did something.

I knew about CF but NEVER would have believed that Courtney had it because we had never had any lung issues.

Six sweat tests, and 1 genetic test later we finally got the diagnoses.

Courtney, now 13 years old, suffered for four years with stomach pains before they finally took us serious.

Up till a week ago we had never dealt with lung issues.

Please keep us informed with your son's results.

I wish you and your family well.

Seana

mom to

Lauren-15, no CF
Courtney-13, with CF
Cameron-10, no CF