I am in shock!!! My 11 year old niece was diagnosed with CF !!!

There are varying degrees of CF...mostly due to the different mutations.  But, I dont think there is such a mild CF that doesnt affect your lungs at all.  Have hope though, my CF is mild enough that I never get admitted to the hospital except on the rarest occasions...so hopefully she is like me.

Hello Mark and welcome to Healing Well!

Sounds like your niece is getting all the correct testing done and hopefully will do fine.  Cystic Fibrosis is progressive.  How fast or in what varying degrees is not readily known as there are a lot of factors that can play a rule in how each person is affected (even twins with the same exact mutations can present with different symptoms).  Genetics and environment are just some of the factors that can make a difference in outcomes.

The main thing is that she gets diagnosed properly, starts therapies and has support from loved ones - it seems like she has that covered!

Hugs!

Hi there,

From what I have learned (my 2 year old son has CF) there are many varying degrees and symptoms of CF.   The day my son was tested, there was a family with 3 kids all getting tested, because their father who was in his 30's was just diagnosed.   Is that weird or what? 

Most of it depends on the mutations identified.  Someone has to have 2 mutations (one from mother, one from father).  The most common is the deltaF508.   There are 32 common mutations that most labs can pick up on, but literally thousands of other more rare mutations that can only be identified by blood tests from specific genetic labs.  

I know a man that has 2 children with CF, ages 11 and 13, and they have mutations that have never affected their lungs.   He said both kids have pancreatitis, one so severe that he couldn't eat for 2 months and just had to use a feeding tube to let the pancreas rest and recover.   His kids are just small and have the pancreas problems -   so you can see there are lot of degrees of CF.

Have you been told the names of the mutations your niece has?  They can only be identified from the blood test, not the sweat test.

Diana

First, please stop freaking out and just breathe. My daughter was diagnosed with CF when she was 9. She is now 16 and to look at her you'd NEVER guess she is sick. First and foremost, it's about teaching Catie to take good care of herself. She's at the perfect age to learn about her medications and the disease. It's not the same disease as it was 25-30 years ago.  They have come so far with their research. When my girl (also a Katie) was diagnosed, no one expected it but me.  I had done a lot of research and I had to actually push for tests that eventually led to her diagnosis.  Education is huge here. It's a life style not a life sentence...remember that for Catie.  If she hasn't had too many other symptoms than maybe she is lucky to have a mild form...this still takes care and prevention but that's where education comes in.  Take good care of your neice and remember to breath. Best of luck to you and yours, Gwen

Yes, please do breathe!

 

I've been diagnosed for 15 years (I'm 17 now) and I've just recently started having lung problems, and they aren't even that severe. I always had more trouble with my digestive system. As for there being mild cases, I wouldn't say that. There are just lots and lots of different cases, and everyone is different. Progression of the disease is differs between patients as well.

 

Right now, my only advice is to be optimistic! Remember, life always looks better when the glass is half full...

Hi Snotgun-
While sweetblood has brought this thread back to the top, just thought I'd ask how the testing went?

Hope you and your family are well,
best wishes
Gem

I need help!  I have a nephew that was tested two weeks ago and had a sweat test that was 49 and then retested sweat test on another day and it was a 61.  I have three boys and I had taken my youngest (7weeks old ) in for a check up and she checked his chart and his newborn screening he tested neg for CF.  She wanted to have my 5 and 3 year old boys tested with the sweat test just in case.  They were tested today and had high borderline scores of 47 and 44.  My nephew and my boys are all healthy kids.  This would also mean that me, my husband, my sister and my sister's husband are ALL carriers of CF.  This is astronomical.  My pediatrician mentioned something about mosaic gene??? A gene that maybe mimicing CF?  The reason my nephew was tested is that he had a sinus infection and the ENT does a "routine" check on all his patients with sinus infections.  I have called lots of relatives and in all the families mentioned as far as we can go back no one has been diagnosed as having CF or has died at an early age with unknown death.  Please if anyone has heard of similar cases then please let me know.  My ped is talking to a lung spec in the morning and we will go from there.