Atypical CF?? Anybody have it?

[anonymous]

HI, It appears our daughter (7) has the difficult to DX, atypical CF.....one mutation known 1989+1G>A, did Ambry 1000 test.....Anybody have atypical CF or know of anybody...I'm trying to find out what the stats of atypical are..i wrote the CF foundation, have not heard back yet....I guess atypical is rare...don't know??? Appreciate any info on it. Thanks, BetJuliet in So. cal

 

[anonymous]

I think atypical cf is cf where only one mutation is found... the other is not identified yet.. but im pretty sure that still means she has cf.. its just not your typical case of cf where they know both mutations... hope i didnt confuse you too much <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

Im 22 and I have CF. I only know about what I have been thru, not all the big words and medical terms (hopefully I will son tho cuz Im in school for Med. Asst) But....if you have any questions that the foundation isnt answering yet, I can pretty much tell you what I have been thru with this disease and give you my input on it...Havent had alot of respiratory problems, mainly gastric (meaning stomach and digestive) My Dr's say I have CF very mildly , so like I said, have any questions you can email me. This is my first time on this site so Ill check back now and then, good luck w. your daughter!Sincerely, Felicity Email: PJzWife4Lyfe@aol.com

 

[anonymous]

im 17 and was just diagnosed with atypical cf... mutation 2752-26 A to G, M470V/M470V and 7T7T variant. we are not sure what everything means yet... i have had severe respiratory infections since birth, and digestive problems, although i am overweight right now due to years and years of high doses of steroids, but my other symptoms are fairly typical. ... low lung function, currently o2 dependant, lots of infections, etc. we don't know any stats either... my mutations are really rare, as most i think are. i see the cf clinic here next wed, so hopefully i will know more then. feel free to e-mail me ShalomChai18@aol.com <img src="i/expressions/face-icon-small-smile.gif" border="0">aliza in chapel hill, nc

 

[anonymous]

Thank you both for your replies...I will keep your emails and write you. I hope to hear form the CF foundation with some stats numbers of how common/uncommon atypical cf is. I will share it with you. It's been a really hard road not knowing for 1 1/2 yrs.....we've lots of MAJOR school problems...we have an attorney now that will file a due process hearing for us and attend the next school mtg. WE are not out to get a ton of money, just to change the way they operate with special needs kids, get thr right help for our daughter......our district only wants "the smart, no spec needs kids free kids" our school is 3rd top in So. Calif.....that's right, ...right behind Beverly Hills and Palos Verdes....gee, it's because they fustrate the parents so much they end up going to the private school close by...It's a LONG, LONG story...Anyway...if we had a definative DX of CF, it would make life easlier in terms of dealing w/ the school district and explaining everything to our daughter.......The school thinks we have mouchousen bi-proxy...they are completely crazy and terrible. Our faith has/is getting us thru all this. God bless ya all. BetJuliet..THANKS for your replies again!!!!!!

 

[anonymous]

Thank you both for your replies...I will keep your emails and write you. I hope to hear form the CF foundation with some stats numbers of how common/uncommon atypical cf is. I will share it with you. It's been a really hard road not knowing for 1 1/2 yrs.....we've lots of MAJOR school problems...we have an attorney now that will file a due process hearing for us and attend the next school mtg. WE are not out to get a ton of money, just to change the way they operate with special needs kids, get thr right help for our daughter......our district only wants "the smart, no spec needs kids free kids" our school is 3rd top in So. Calif.....that's right, ...right behind Beverly Hills and Palos Verdes....gee, it's because they fustrate the parents so much they end up going to the private school close by...It's a LONG, LONG story...Anyway...if we had a definative DX of CF, it would make life easlier in terms of dealing w/ the school district and explaining everything to our daughter.......The school thinks we have mouchousen bi-proxy...they are completely crazy and terrible. Our faith has/is getting us thru all this. God bless ya all. BetJuliet..THANKS for your replies again!!!!!!

 

[anonymous]

I am 39 yrs. old and have suffered with chronic sinus disease for many years. I've had repeated surgeries and am susceptible to pseudomonas. My mutations are I148T and W1282X,It's been described to me that you have CF if you carry more than 1 mutation. It becomes atypical when it involves any organ outside of the lung.I was told by Ambry genetics that the CF foundation does not recognize atypical CFso if you get any response from them please share it. I'm just as lost as allof you are.