Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 Dear Liba, It does sound a lot like CF to me, and even if its not you're welcome here. I guess I'd recommend you do the ambry test but it has failed to find one of my daughters mutations. she has pos sweat tests and all symptoms so it is assumed she has CF. Let us know what happens, love, mom of age 19 wcf and Nick age 21 nocf PS was diagnosed at age 8 mos due to dehydration, failure to thrive, bronchitis and weird low electrolytes. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 Your girls are very lovely. :-) Stay on the list with us, we don't mind at all. I too would encourage the ambry route. Proper diagnosis goes a long way toward treating illness. Dawn mom of 4, 7 and under, the youngest wcf Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 Hi Liba, I, too, am a " new " member...also in limbo. My story is similar, without the pancreatic involvement: My 8 year old daughter, Bethany, began having " seasonal allergies " while in kindergarten. She would wheeze, mildly, from Sept until the 1st freeze (usually around Thanksgiving) and then briefly in the Spring. Albuterol inhalers always helped...that is, until this year. She began mildly wheezing this past September and NOTHING could touch it. In January, she developed an ear infection that wouldn't respond to 3 courses of antibiotics. Finally, to my insistance and relief, the pediatrician referred Bethany to a pediatric pulmonologist. She was diagnosed with asthma and was found to have many allergies (mold, dust, dogs, cats, grass, etc...) They put her on a different treatment regimen and we began allergy shots, once the wheezing finally subsided. We were doing really well until mid May when her wheezing came back in full force...despite medication changes and several courses of antibiotics, she just wasn't improving. She was able to cough up a teeny tiny sputum specimin for testing. Imagine my surprise, when they called to inform me that pseudomonas was cultured from her sputum! They put her on Cipro and arranged for a sweat test the following week. The test result came back negative (30). They also scheduled her for a bronchoscopy. We went to the hospital, prepared for a routine outpatient procedure. The pulmonologist, doing the bronch, admitted her to the hospital immediately after the procedure. The reason...as he put it, is that based on what he saw, in EVERY lobe of her lungs (sticky, tenacious, thick secretions) he was sure he was in the lungs of a CF kid, with a terrible PA infection. She was placed on IV antibiotics, Solu- Medrol, major respiratory therapy (including the " vest " ), etc... They repeated the sweat test, this time the results were 22. They also did a blood work up, a culture on her bronch washings and other tests. In a nutshell: the gram negative bacteria was not pseudomonas, but some other that I never heard of nor can pronounce. The blood came back as positive for 1 CF gene mutation...the other inconclusive since the local lab only tests for the 20 most common mutations. The pulmonologists, being very suspicious ordered another round of blood tests. We are awaiting results, sent out, to test up to 100 mutations. I currently have her home, on nebulizer treatments (albuterol 4 x daily, with 2 of those including pulmicort, and gentamycin twice daily), Levaquin, assorted allergy medication (singulair/allegra) and prednisone (thank goodness we've begun the weaning process of that...nasty drug that it is!) I also have a 4 1/2 year old son, who was failure to thrive as an infant and is still is quite underweight (34 lbs). Anyway, despite not having a definitive diagnosis, I plan to continue " lurking " among the postings of this group. Thanks for allowing me to tell my story. Polly (Former RRT, no longer in practice, except at home:D) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 Your girls are beautiful! I have 2 boys, so I'm alsways a sucker for pics of everyone else's little girls in fancy dresses! I would go for all the testing that I could get. CF is different in every child, and even thought the sweat test wasn't possitive (though it was quite high) that doesn't mean that she doesn't have CF. It doesn't sound like your day to day life would change much with that diagnosis. My son is on enzymes, inhalers and vitamins. That's all, other than twice daily physiotherapy. Do you give your daughter vitamins with her enzymes? That is a must for cf patients, otherwise, they don't digest them properly. I hope you get answers soon. I found it much better knowing what was wrong with my son, then I could deal with it. The not knowing makes you feel so helpless. Good luck. Carla, mom to Shay 4 1/2, ncf, and Dallas, 2 1/2 wcf > My name is Liba and I am the mother of two wonderful girls. The older > one ZT turned five in May. She is pancreatic insufficient and takes > Creon. She was diagnosed as FTT as an infant, and had bronchiolitis > three times in her first year. She is on flovent and albuterol for > her asthma. My husband and I were premaritally tested for CF among > other genetic tests so I spent years insisting that my daughter > couldn't have it. I found out recently that we were only tested for 8 > out of 1000+ mutations so she had a sweat test which came back > negative so we breathed a sigh of relief. > > Last Friday we were at the pulmonologist for my younger daughter, who > has been having oxygen saturation problems, but the conversation kept > on turning to my older daughter who wasn't even there... He said it > had been mentioned that TF had a sister who was also failure to thrive > and asked why? When I said that " She was doing well now, she has been > on pancreatic enzymes since Feburary and has gone from 24 to 30lbs and > is doing well now. " his eyes opened. Then he asked about sweat tests > and I said that they had both had them, I didn't know what TF's number > was, just that it was negative but my older daughter's was 37 and his > eyes got even bigger. He said that though he has seen some kids with > numbers that high who don't have CF, usually negative test results are > around 10. Then he asked about asthma or breathing problems and when I > said that both my older daughter and I were asthmatics he asked how we > were treating my older daughter's asthma and I told him about the > flovent and abuterol he said " I know we are here to discuss Tziporah > not your other daughter, but what is her name? " Then he asked me if we > had had genetic mapping done for CF for Zlata... and I said no. He > said he still thinks there is a possibility that she has CF. I said > " So what, there is a 1% chance she has cystic fibrosis? " and he said > " No, more than 2% and probably closer to 10% " He gave us the name of > Ambrey Genetics and told us we should get the testing done even if it > wasn't covered by insurance. He said that it was important, and that > it would cost about $400. I am pretty sure insurance won't be an > issue, and even if it is, that isn't my worry right now. > > I was given a 90% chance that my daughter doesn't have cf, but with > the breathing problems and the pancreatic insufficiency I feel like I > have a lot I can learn for you all none the less. I remember in > Feburary looking for a board for parent's of children with pancreatic > insufficiency and I couldn't find one. I am not sure how differently > we would be treating my daughter if we did get a diagnosis of CF. > > Have any of you had a negative sweat test and then a CF diagnosis? > Does how high or low the level is matter if the number is negative? > Should we just go with Ambry or should we get another sweat test done? > We were told under 40 was negative, but if it were that clear cut > would we be getting all these raised eyebrows? > > My daughter is also anemic, has been since infancy, zinc defficient > and has low sodium despite her high sodium intake. I am not sure that > any of these things have anything to do with CF. There is no family > history of CF that I know of on either side. There are a bunch of > relatives who died as young children and teenagers in my father's > generation but I was under a strong impression that that was related > to ulcerative colitis which I knows runs in the family. > > I hope you don't mind me being here, since I am not sure we belong. I > am sure that even if we don't end up with a CF diagnosis that I will > learn a lot about pancreatic insufficiency and enzymes. I don't know > any other parents who deal with enzymes and have to figure out how to > deal with making sure they allow her to take them,and that she > remembers, if she goes to school in the fall. I appreaciate your > support!! > > > Liba > > PS If you want to " see " my girls you can check out my website, it is a > very ammature first attempt... http://webpages.charter.net/liba Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 He said that it was important, and that > it would cost about $400. I am pretty sure insurance won't be an > issue, and even if it is, that isn't my worry right now. > > I was given a 90% chance that my daughter doesn't have cf, but with > the breathing problems and the pancreatic insufficiency I feel like I > have a lot I can learn for you all none the less. I,too, think it is important that she bee given a genetic test especially if she has breathing and pancreatic insufficiencies. My son was not diagnosed until this year. His sweat tests were in the indeterminate range (i.e. he was reading 58)He has had two operations for nasal polyps this year. The first genetic test they ran (from Genzyme) found only mutation. The second test was done by Ambry and they found a second mutation. The second mutation is a rare mutation and the only two documented cases. Both had sweat tests in the range of 50-60 which is the indeterminate range. Have your child checked again and make syre they are tested at a certified CF center!!!! They have much more practice at giving/running the sweat tests etc. at a CF center than from a local hospital. jan Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 21, 2003 Report Share Posted July 21, 2003 You are welcome here with " whatever " . I do highly agree with the doc to get all tests possible & leave no leaf unturned. the more you know , the better you can care for those precious children...Your doing all the right things-----don't stop now. Take care & your in my thoughts to get thru all this LOVE & HUGS, New here, currently living in limbo land with my 5 year old. Intro & lots of ?s My name is Liba and I am the mother of two wonderful girls. The older one ZT turned five in May. She is pancreatic insufficient and takes Creon. She was diagnosed as FTT as an infant, and had bronchiolitis three times in her first year. She is on flovent and albuterol for her asthma. My husband and I were premaritally tested for CF among other genetic tests so I spent years insisting that my daughter couldn't have it. I found out recently that we were only tested for 8 out of 1000+ mutations so she had a sweat test which came back negative so we breathed a sigh of relief. Last Friday we were at the pulmonologist for my younger daughter, who has been having oxygen saturation problems, but the conversation kept on turning to my older daughter who wasn't even there... He said it had been mentioned that TF had a sister who was also failure to thrive and asked why? When I said that " She was doing well now, she has been on pancreatic enzymes since Feburary and has gone from 24 to 30lbs and is doing well now. " his eyes opened. Then he asked about sweat tests and I said that they had both had them, I didn't know what TF's number was, just that it was negative but my older daughter's was 37 and his eyes got even bigger. He said that though he has seen some kids with numbers that high who don't have CF, usually negative test results are around 10. Then he asked about asthma or breathing problems and when I said that both my older daughter and I were asthmatics he asked how we were treating my older daughter's asthma and I told him about the flovent and abuterol he said " I know we are here to discuss Tziporah not your other daughter, but what is her name? " Then he asked me if we had had genetic mapping done for CF for Zlata... and I said no. He said he still thinks there is a possibility that she has CF. I said " So what, there is a 1% chance she has cystic fibrosis? " and he said " No, more than 2% and probably closer to 10% " He gave us the name of Ambrey Genetics and told us we should get the testing done even if it wasn't covered by insurance. He said that it was important, and that it would cost about $400. I am pretty sure insurance won't be an issue, and even if it is, that isn't my worry right now. I was given a 90% chance that my daughter doesn't have cf, but with the breathing problems and the pancreatic insufficiency I feel like I have a lot I can learn for you all none the less. I remember in Feburary looking for a board for parent's of children with pancreatic insufficiency and I couldn't find one. I am not sure how differently we would be treating my daughter if we did get a diagnosis of CF. Have any of you had a negative sweat test and then a CF diagnosis? Does how high or low the level is matter if the number is negative? Should we just go with Ambry or should we get another sweat test done? We were told under 40 was negative, but if it were that clear cut would we be getting all these raised eyebrows? My daughter is also anemic, has been since infancy, zinc defficient and has low sodium despite her high sodium intake. I am not sure that any of these things have anything to do with CF. There is no family history of CF that I know of on either side. There are a bunch of relatives who died as young children and teenagers in my father's generation but I was under a strong impression that that was related to ulcerative colitis which I knows runs in the family. I hope you don't mind me being here, since I am not sure we belong. I am sure that even if we don't end up with a CF diagnosis that I will learn a lot about pancreatic insufficiency and enzymes. I don't know any other parents who deal with enzymes and have to figure out how to deal with making sure they allow her to take them,and that she remembers, if she goes to school in the fall. I appreaciate your support!! Liba PS If you want to " see " my girls you can check out my website, it is a very ammature first attempt... http://webpages.charter.net/liba ------------------------------------------- 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...
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