Guest guest Posted January 27, 2004 Report Share Posted January 27, 2004 The question did not appear on your post on my computer; however, I would have dna testing for all known disease-causing cf mutations, a sweat chloride test, a stool elastase test--could be--may not be-- cystic fibrosis. Hoping for the best, n Rojas, wcf, mom of 3 adults, the youngest of whom has cf as well-- CF testing Hello, Can someone answer a question for me?? I have a son who just recently turned 12 months old. Pretty much, since the time that we brought him home from the hospital, he has had trouble with breathing. One minute his breathing seems to be just fine and the next it sounds like rice crispies are pop pop popping away in his lungs. Sometimes, he concentrates all of his efforts on breathing alone. I cannot seem to identify any triggers to this breathing problem. And, sometimes it spontaneously clears on its own without the assistance of Albuterol. In the beginning, it happened maybe once a week with an episode lasting for only a few minutes. Now, without the use of Pulmacort and Albuterol it is twenty four hours a day. He has coughing fits, as well. These coughing fits have been bad enough that they actually trigger him to vomit. Other times, it is a barky cough that I notice. Bowel movements are odd, too. Somedays, he may only go once or twice. Other days (most often the case), he may go 6-8 times. These " movements " are very FOUL smelling and extremely mucousy. After having to be on Prednisolone for 1 1/2 months, his doctor referred him to see an allergy/asthma specialist. Going on the presumption that he has asthma, she (the doc) put him on Regaln (gastric stimulant). She thought that he might have GERD. This, of course, made his stools mroe frequent. Needless to say, since he was having more bowel movements and did not improve respiratory wise on the Reglan, she stopped it. It was at this point that she began to suspect CF. She ordered a sweat chloride test. The results came back negative with a result of 12. She was surprised. I kid you not. Sorry, long story, I know. My question to anyone with a possible answer is this: ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 28, 2004 Report Share Posted January 28, 2004 What type of test did they give your child for cf. Also did you go to a cf center to have the test done, If not i would go to cf center. My son was misdiagnosed thru a local hospital and our doctor told me to just accept the way he was, thank God I didnt listen to him and looked further into it. I wish you the best and will pray that your little one doesnt have cf. Best to you > >Reply-To: cfparents >To: cfparents >Subject: CF testing >Date: Tue, 27 Jan 2004 22:13:23 -0000 >MIME-Version: 1.0 >X-Originating-IP: 12.221.249.50 >X-Sender: hettie375@... >Received: from n19.grp.scd.yahoo.com ([66.218.66.74]) by >mc7-f40.hotmail.com with Microsoft SMTPSVC(5.0.2195.6824); Tue, 27 Jan 2004 >15:46:55 -0800 >Received: from [66.218.67.198] by n19.grp.scd.yahoo.com with NNFMP; 27 Jan >2004 23:44:43 -0000 >Received: (qmail 51526 invoked from network); 27 Jan 2004 22:14:28 -0000 >Received: from unknown (66.218.66.216) by m5.grp.scd.yahoo.com with QMQP; >27 Jan 2004 22:14:28 -0000 >Received: from unknown (HELO n30.grp.scd.yahoo.com) (66.218.66.87) by >mta1.grp.scd.yahoo.com with SMTP; 27 Jan 2004 22:14:28 -0000 >Received: from [66.218.67.175] by n30.grp.scd.yahoo.com with NNFMP; 27 Jan >2004 22:13:23 -0000 >X-Message-Info: JGTYoYF78jEIRFrK4Q1m8Qyvr850TtQ5 >X-eGroups-Return: >sentto-104900-57150-1075247082-clog1760=msn.com@... >X-Apparently-To: cfparents >Message-ID: <bv6nq3+a9o7 (AT) eGroups (DOT) com> >User-Agent: eGroups-EW/0.82 >X-Mailer: Yahoo Groups Message Poster >X-eGroups-Remote-IP: 66.218.66.87 >X-Yahoo-Profile: hettie375 >Mailing-List: list cfparents ; contact >cfparents-owner >Delivered-To: mailing list cfparents >Precedence: bulk >List-Unsubscribe: <mailto:cfparents-unsubscribe > >Return-Path: >sentto-104900-57150-1075247082-clog1760=msn.com@... >X-OriginalArrivalTime: 27 Jan 2004 23:46:55.0781 (UTC) >FILETIME=[D8AAED50:01C3E52F] > >Hello, > >Can someone answer a question for me?? I have a son who just >recently turned 12 months old. Pretty much, since the time that we >brought him home from the hospital, he has had trouble with >breathing. One minute his breathing seems to be just fine and the >next it sounds like rice crispies are pop pop popping away in his >lungs. Sometimes, he concentrates all of his efforts on breathing >alone. I cannot seem to identify any triggers to this breathing >problem. And, sometimes it spontaneously clears on its own without >the assistance of Albuterol. In the beginning, it happened maybe >once a week with an episode lasting for only a few minutes. Now, >without the use of Pulmacort and Albuterol it is twenty four hours a >day. > >He has coughing fits, as well. These coughing fits have been bad >enough that they actually trigger him to vomit. Other times, it is >a barky cough that I notice. > >Bowel movements are odd, too. Somedays, he may only go once or >twice. Other days (most often the case), he may go 6-8 times. >These " movements " are very FOUL smelling and extremely mucousy. > >After having to be on Prednisolone for 1 1/2 months, his doctor >referred him to see an allergy/asthma specialist. > >Going on the presumption that he has asthma, she (the doc) put him >on Regaln (gastric stimulant). She thought that he might have >GERD. This, of course, made his stools mroe frequent. Needless to >say, since he was having more bowel movements and did not improve >respiratory wise on the Reglan, she stopped it. > >It was at this point that she began to suspect CF. She ordered a >sweat chloride test. The results came back negative with a result >of 12. She was surprised. I kid you not. > >Sorry, long story, I know. My question to anyone with a possible >answer is this: > > > >------------------------------------------- >The opinions and information exchanged on this list should IN NO WAY >be construed as medical advice. > >PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR >TREATMENTS. > >------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 28, 2004 Report Share Posted January 28, 2004 , you can find out the nearest Cystic Fibrosis Center from the Cystic Foundation web site: http://www.CFF.com; if I am wrong, try http://www.CFF.org ; if that fails, call the nearest CFF office and ask them; they will redo the sweat test properly, and will doubtless help you arrange for a dna test; just make sure they don't limit it to 37 mutations or something--gett the full panel done; at least they will pick up at least one that way, as many are unknown, and may diagnose him based on signs (what they observe) and symptoms (what he experiences and you observe). Love to you all, with highest hopes for something less drastic, n Re: CF testing Hello, Thank you for your reply. It is comforting to know that there are people out there who care. My son's name is . He hit some button on the keyboard which resulted in my post getting sent before I typed out the question. The test that they did was the sweat chloride test. He tested negative. But, I still have this nagging feeling that he might very well have CF. I have never heard of a CF center. What is this? We live in central Illinois, and the test was done at one of the hospitals. Thank you so much for replying and praying, ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 31, 2004 Report Share Posted January 31, 2004 Hi- You have received a lot of good advice about having your child tested with the DNA test at a cf center so I won't repeat all that. I did have one thing for you to consider or at least keep in mind as you try to unravel this mystery. Our son is about to turn 9 and he does have cf and asthma. When he was an infant, he had the same " Rice Krispies " sound to his breathing, as well as the barky coughing. One thing we found out is that he also has something called tracheomalacia, which in effect is a narrowing of the trachea. My understanding is that the trachea is soft in infants but as they grow and develop it firms up. Because he has cf and asthma and naturally produces more mucus, his airways were constantly junky. Because the trachea was soft like cooked pasta, it was difficult to clear this mucus- he always sounded like he was about to make an obscene phone call- it was so loud. It almost sounded like tv or radio static when he breathed. The good news was that as a toddler, we could always find him! The only reason I mention it is that when he got a cold, virus etc. he sometimes got into respiratory distress because the contstant coughing and attempts at airway clearance were on overload. I am not trying to scare you, but keep an eye on his respiratory rate when/if he has a cold, virus. Little ones can get into trouble quickly with their breathing. I'm sure you know this already, but that popping/crackling sound is pretty distinct. The tracheomalacia can be seen on a chest x-ray easily- the trachea looks like an hour glass instead of a straight column. I hope you get some answers soon, Debi Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 1, 2004 Report Share Posted March 1, 2004 Dear Jill G , I am glad your getting these down as that is the only way you will get to the bottom of this for a true DX. Then--- , the right treatments to help you feel better & be on a good routine. Bless you . I hold you in my special thoughts . LOVE & HUGS, grandmomBEV CF testing Hi, Well, it's done (or nearly done). I saw my gastro guy this morning- a man I adore. I wasn't sure how he'd react to my getting sweat tested and to further DNA analysis. He agreed with both! So, I've already been to Quest to have the cf DNA analysis done and they are looking into whether I need to go to Yale for the sweat test or if I can go to a local hospital. He already said one of the local hospitals (my favorite, actually) doesn't have a large enough pediatric section so he disqualified it right off the bat. However, he thinks the other local hospital might be ok for it. They're making some calls and then will let me know. So, within the next few weeks I'll know, for sure, if I'm just a carrier or if there's a 2nd mutation somewhere. Love, Jill Quote Link to comment Share on other sites More sharing options...
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