Please help!!!

[kadesmom]

i HAVE A 14 YEAR OLD SON THAT HAS HAD HEALTH PROBLEMS HIS WHOLE LIFE. HE HAD RSV WHEN HE WAS A FEW WEEKS OLD, FAILURE TO THRIVE AT A COUPLE MONTHS OLD AND PNEUMONIA EVERY WINTER FROM AGE ONE UNTIL ABOUT 11. WHEN HE WAS 4 WE NOTICED HE WOULD WHEEZE AND STRUGGLE TO BREATH WHILE WATCHING TV WHICH WE THOUGHT WAS WEIRD BUT WOULD ALWAYS SELFCORRECT IN A FEW SHORT MINS. AFTER A FEW MONTHS WE NOTICED THAT HE WOULD STRUGGLE TO BREATH AND THEN WOULD END UP IN THE BATHROOM WITH DIARRHEA.....EVERY SINGLE EPISODE!!!! IT STARTED OUT HAPPENING ONCE A MONTH AND PROGRESSED INTO 2 OR 3 TIMES A WEEK. WE TOOK HIM TO MULTIPLE DRS AND HOSPITALS AND HE HAS HAD EVERY TEST DONE KNOWN TO MAN. NOBODY HAS ANY IDEA WHATS GOING ON. WE NOW REFER TO HIS EPISODES AS ATTACKS BCUZ THATS EXACTLY WHAT HAPPENS TO HIM. SOB, DIARRHEA, FEVER, SPO4<80, HIVES (OCCASIONALLY), EXTREME PAIN, TONS OF MUCUS. IN THE LAST 10 YEARS THERE HAVE BEEN TIMES WHERE HE WILL GO SYMPTOM FREE FOR A FEW MONTHS AT A TIME, BUT IT ALWAYS REBOUNDS AND HITS HARD SOON AFTER. HE HAD A SWEAT TEST DONE BUT HE HAD A NEGATIVE RESULT. ALLERGY TESTS SHOW HE HAS NO ALLERGIES TO ANYTHING, NOT EVEN LEVEL 1 ALLERGIES, YET HE ALWAYS HAS A RUNNY STUFFY NOSE AND SNEEZES ALL DAY LONG. IVE ASKED HIS DRS AND HIS PEDIATRICIAN SAYS ABSOLUTELY NOT, BUT HIS GI MD HAS SAID ITS A POSSIBILITY. MY SON IS TO THE POINT THAT HE DOESNT WANT ANYMORE TESTING DONE!! HES SICK OF GETTING NO ANSWERS AND HE SAYS HED RATHER SUFFER THROUGH IT THEN SIT IN A HOSPITAL FOR WEEKS AT A TIME. I GUESS WHAT IM WANTING TO KNOW IS IF ANYONE THINKS WE ARE HEADING IN THE RIGHT DIRECTION....I DONT WANT TO PUT HIM THROUGH ANYMORE UNNECESSARY TESTS IF I DONT HAVE TO. ANY HELP WOULD BE APPRECIATED. IM SICK OF HEARING THAT IM A PARANOID MOM AND THAT MY KID IS FINE!!! PLEASE HELP!!!

 

[Rebjane]

Has he had genetic blood work looking for CF mutations? Any doctor could order it, even his GI doctor. There is something going on with your son and you and your son need answers. There are over 1000 known mutations for CF. You son needs to have 2 in order to have CF. I would request the most comprehensive blood test available to look for CF mutations. Did he have his sweat test done at a CF center? People with CF can have negative sweat tests. Has your son ever been referred to a CF doctor? If you look on the Cystic Fibrosis Foundation's website you can find a CF center located near you with phone # and the name's of the CF doctor. These doctor's are the experts in CF, general pediatricians do not have proper training in CF.

 

[Aboveallislove]

Dear Mom,
So sorry for all you and your precious son have gone through. Several here have had negative sweat tests, but have CF diagnosed by the genes. If you can get the doctors to order a full test for all the CF genes (about 2000), that is a "simple" blood test they can do, but it will take a few months for results. I'd push for that so you can rule it out or know what it is. It is $$$$ so the insurance company may give a fight but if you have a doctor on board, then that's the best approach. An accredited CF clinic is your best bet to push for the testing, but they might also write you off so if you have a GI who is open to the discussion maybe have him push for the full gene screening and contact other doctors, CF clinic to arrange. If you are willing to pay out of pocket that would expedite.