Hi, my name is Toni, the mother of a onry 13 yr old boy. In the last 2 years he's had several frequent episodes of what the doctors were saying was croup. He gets a god awful sounding cough and sounds just like croup, which he had a few times as a baby. He has recurring sinus and ear infections (6 sets of tubes) since birth. We changed pediatricians late last year and he did some test on him to find that he has a primary immunodeficiency disorder, he has Selective IgA deficiency, meaning the part of the blood that fights infection off from the mucus membranes and gastrointestinal tract is pretty much not there (normal levels are something like 90-120 and he is a 1) so we were referred to a pulmonologist and then on to an immunologist. The immunologist is 2 1/2 hours away and recently a new one came to our town who specializes in primary immunodeficiencies. After reviewing tests on my son that were done in April he found that the sweat test revealed that his level was a 38 (borderline being 40-60) and felt this to be too close for comfort for him. Yesterday my son had another one done and the dr himself called to tell me that it came back positive for cf and his level was now 76 putting him over borderline. He has sent blood work off for genetic testing and will schedule another sweat test to be done in 2 weeks. He said he has to have 2 positives to make a diagnosis. He was also diagnosed with asthma. He takes QVAR inhaler 2 times a day and 875mg Augmentin every night before bed and carries a Proventil inhaler on him at all times at school.
There's alot going on here and I don't know what comes next, waiting is the hardest part. He began asking alot of questions yesterday and I'm not sure how to explain it to him, I told him that WE (myself, his father, and him) need to write down all of our questions so that when we go back to see the immunologist he can help us get answers. The hardest part was his last question "mom does this cause death?" I'm very scared, at 13yrs old I'm supposed to be worrying about him getting in trouble at school, trying his 1st cigarette, little girls calling all times of the night, the typical teenager trouble, not an incurable disease.
I would love feedback on any information this forum can provide about CF and teenagers newly diagnosed.
Thank you so much in advance,