Ruling out CF when many symptoms appear

[Sebastians Mom]

My 3 year old son has had 2 negative sweat tests however exibits or has exibited the following symptoms:



  delayed gastric emptying - officially diagnosed

  flatulence and colicky pain after feeding as baby

  jaundice at birth - had to have a bili-blanket for 3-4 days

  gastroesophageal reflux - officially diagnosed

  cough followed by vomiting

  recurrent wheezing

  recurrent pneumonia - diagnosed several times

  uncontrolled asthma symptoms

  chronic sinusitis - officially diagnosed

  digital clubbing - officially diagnosed



Does anyone believe that further testing should be done? I tend to error on the side of caution. At this time, his pulmonologists do not think we need to go further.



Thanks!

[National Jewish]

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.

[starion]

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

[ozark]

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

[Sebastians Mom]

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!

[Sebastians Mom]

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.

[PCDgal]

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