Hi:)
There is another disease very clinically similiar to CF. It's called primary ciliary dyskinesia. After CF is ruled out most doctors wouldn't think of testing for PCD. It's not considered a standard disorder to test for and is invasive to test for vs CF.
The symptoms your son has, though not uncommon with other things are VERY consistent with PCD. Depending on what part of the world you are in there better places to go than others for diagnosis.
It's just another idea to check for.
Have they done the blood test for CF?
I hope you get answers soon. I'm sure you are worried and frustrated.
Big hugs to your family
P.S. He has had a bronchoscopy and an upper endoscopy - both performed at Children's. Bronchoscopy showed the RAD but biopsy and wash were normal. Endoscopy showed Esophagitis caused by Thrush but was otherwise normal and biopsy was normal. He has also had 2 sweat tests performed at 2 different children's hospitals, Upper GI studies, and radionuclide reflux imaging. And over the years he has had several chest x-rays and sinus x-ray.
Right now they are aggressively treating the Reflux to see if we can get the pulmonary problems under control. Unfortunately his "asthma" is not controlled at this time.
Thanks everyone for your comments! Actually, we got to Children's Hospital of Pittsburgh Pulmonology and Gastroenterology. As of today, the Pulmonologists have decided that further testing is warranted even though the sweat tests were negative. So we are crossing our fingers.
Thanks again!
It is obvious that this is a significant problem. With the degree of infections and digital clubbing, the question is not whether further testing should be done, but rather where and when to have more testing done. It is best to go to an academic medical center because of the complexity of possible testing of the immune system, the respiratory and possibly the cardiovascular systems. An academic medical center not only has all the staff located centrally, but also deals with problems like this on a regular basis. If this does not exist in your area, you may consider National Jewish Medical and Research Center as another resource to help in the diagnosis and management of your son.
You may wish to post to
http://www.geocities.com/younglungz/YOUNGLUNG.html
Many of the folks who particpate in their forum have CF or "CF-like" conditions. Most of them are in their teens or early 20s & they're a very nice & helpful bunch. One is a RN who has a CF-like condition, married to a man who has CF.
Aloha,
Starion
what do they say is causing his clubbing? just all the respiratory conditions? Does he have any heart problems? that could also cause clubbing.....the other thought is how severe is his reflux? have they considered doing a stomach wrap? Has he ever had a bronchoscopy...does he cough when he drinks? being that the sweat tests are neg i would feel he doesnt have cf....Has he had an immunology work up......good luck