My 2 month old has one of the F508 mutated genes and her sweat test came out positive. They did another blood work to check for the other cell for the next 150 or so other most common cells and nothing came up. So I asked them to further the tests so they are going to but they said she is 1 in 10% of all cf patients to have an odd ball cell.Any suggestions would be good. They say her lungs are clear but she has a cough at times and they say it is reflux and they are watching to determine if she has asthma. Astha runs in the family. My husband and I never new we were carriers. There has never been a case of cf known in the family on either side. Now that they cann't find the other cell only one of our families will know if they are carriers. How odd does this sound? Is this common to not know of anyone being a carrier and all of a sudden she is possitive and she has 1 cell that is odd and hasn't found it yet? Please let me know. She has been gaining weight on her own wonderful. They did do a stool sample to check and they found a little protein so they put her on Creon5. But before this she has gained all her weight on her own and has grown 2 and a half inches in 2 months and gained over 3 pounds.
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Positve sweat but caan't find second cell
- Thread starter Katina
- Start date
My husbands mutation has never been detected....he did a test where they compared him to 1000 mutations ( Ambry Gentics offer this test...check out their website but it was very expensive)and he does not have any of them but our son has CF regardless. Basically some mutations are very rare is all. My husbands family cannot be tested because they cannot find the mutation he gave to our son that gave him his CF...but a positive sweat test means CF regardless if they can find the mutations or not. Our doctor told us that 15% of carriers have a gene that is not picked by current technology.
How is your son doing. Does it seem to be a milder case. Saydee seems to have few digestive syptoms. I was talking to another parent whom has a son 20 w/cf 2 without and an18monthold w/cf and she says it seems that Saydee might have a milder case. Was there any cf in either side of your families before your son or did yous not know you were carriers?
My daughter also has 2 positive sweat tests and thy only found one rare mutation L997F. They cannot find a second mutation and she is still being studied at Johns Hopkins now.
Lauren presents very mild and has never been in the hospital for CF. The Dr.s insist that we do treatments, enzymes, Vest, etc. My two older children are fine, but then again how can they check them for the mutations Lauren has if they only have one??
We also never knew we were carriers, no CF in our families, there is asthma though.
I continue to have a difficult time with this, because Lauren is so severely involved with her additional developmental disabilities that maybe I am in denial about the CF. But after reading your post maybe having only one mutation is not so rare after all!!!
Thank God she has been extremely healthy lately. Take Care,
Lauren presents very mild and has never been in the hospital for CF. The Dr.s insist that we do treatments, enzymes, Vest, etc. My two older children are fine, but then again how can they check them for the mutations Lauren has if they only have one??
We also never knew we were carriers, no CF in our families, there is asthma though.
I continue to have a difficult time with this, because Lauren is so severely involved with her additional developmental disabilities that maybe I am in denial about the CF. But after reading your post maybe having only one mutation is not so rare after all!!!
Thank God she has been extremely healthy lately. Take Care,
my wife and I were told that you do not necessarily have to have 2 mutations to be positive for cf. If there are 2 found, the sweat test is simply to confirm what is already known. But, if there is only 1 found there is a chance that you are just a carrier of the gene, as was the case for our 7 week old son, but there is also a chance that you are positive for cf
We had no idea we were carriers and there is no family history of CF b4 our son. Our son does seem to have a milder case though...no hospitalizations yet!!! He stwll takes enzymes and we do tobra twice daily and physio twice daily as well. He is a bit skinny but really re have nothing to complain about<img src="i/expressions/face-icon-small-smile.gif" border="0">