Prenatal diagnosis for CF - no sugar-coating please

I am new to the board. My husband and I just received a prenatal diagnosis for CF. My husband has the DF508 mutation and I have the R347P mutation. We have an appointment with a pediatric pulmonologist next week. I have researched all of the CF sites and read all the "basic" information about the disease. I know there are different severities and I know the websites don't give even a clue to what we can expect on a daily basis.

If any of you would be so kind as to share your story with us, it would be so greatly appreciated. It would be so helpful to know the severity of your child's case first but then what you go through each day with regard to meds, treatments, drs/specialists, etc. Even things like challenges with school (in the future) or travel or just going out for the day to run errands...how bad is it really?? Please don't fear being very honest. We want to know what to expect...how to prepare our 8 yr old son...how to prepare ourselves for anything or everything.

THANK YOU in advance.

My daughter is now 28months, she was dx'd when she was 6 weeks old. I'm older mom, so we did a bunch of prenatal testing...there is no family hx of CF, so we decided not to test for that.

As said before, all CFers are not the same. Severity depends on LOTS of factors. I know its easy to wanna plan on "the worst", but, I have found that we just need to keep a "wait and see" attitude. We try not to anticipate bad things, or things that haven't happened yet.  For example, Kate's liver tests were a little off, and right away I spazed out and was thinking liver transplant!!!  The what iffing will drive you crazy!!   

Kate's 1st 6 weeks were hard. She was hungry all the time, nursed well, but then would cry for hours after eating. Her poops were stinky, green and mucousy. The CF test on her newborn screeing test came back high, but the doc told us she was just a carrier and not to worry. He also said she had colic and maybe a milk allergy. After I talked to him, I licked her forehead and she tasted salty, so I knew she had CF. Well, one day, she cried for hours and refused to eat. We were seen, sent to the CF clinic

and ended up having the blood/DNA analysis, which was +.  We started her on enzymes at 6 weeks. Once she had those, she was a whole different baby!  I cried the first time b/c it was the first enjoyable feeding we'd had. Anyway, she is now happy, healthy and doing well. She has the deltaF508 and a 4218insT combo mutation. Who knows what s/s this combo will produce in her future?

Anyway, living with CF does suck, but ya deal with it, and do everything you can to keep your kid healthy. We do Zantac for her reflux and to help the enzymes work more effectively, we do enzymes with every meal,snack, glass of milk, etc. We do the special CF vitamins. I give her the liquid meds thru an oral syringe. The enzyme capsules I break open and mix them with baby pears (she liked pears better than applesauce).  When she was a baby, we did the nebulizer 2x day, and the chest percussion. Kate doesn't have any resp symptoms at this time, but she did culture Pseudomonas @ 18months and is now chronic.  We now have the vest that vibrates her. I also use do other supplements orally and inhaled (via neb).

I use GSH, not b/c I think its a cure, but b/c it helps the immune system.  Research things, don't be afraid to ask questions, trust your mom instincts, and realize that docs don't know everything. Also, allow yourself time to cry, be devastated, be mad, whatever.  I still have bad days over Kate's CF.

We have just incorporated enzymes, treatments, etc. into our daily routine. I carry enzymes and pears in the diaper bag. I have given enzymes EVERYWHERE!!  (the mall, amusement parks, library,in the car...)  We have a portable neb and have done nebs lots of places. I don't let CF keep us captive in our house.   

People have asked me "if you knew Kate had CF, would you still have had her?"   I don't know.....but I do know that she is the greatest little person. Even at this young age, she has a spirit and spunk that keeps ME going. As a parent, CF has made me appreciate my daughter more.

So, good luck in your search. Sorry this is so long. Keep us posted! 

Kim

mom of great Kate, w/ CF 
 

I would like to start off by saying that I think you'll be the kind of parents that can get your child through this.  Your already researching and asking the right questions and looking for advice.

I am a 33 year old woman, wife and mother with Cystic Fibrosis. I was diagnosed at 3 months of age. I can not offer you any specific details on what techniques were used when I was a baby because so much has changed in the last 33 years when it comes to treating CF.  What I can tell you is....that the reason I am still here today and doing fairly well, is because my parents took such good care of me. They did everything I needed every step of the way.

I don't remember much about being a small child with CF. I just remember being fed constantly....being Italian, I think that would have happen either way. As a busy teenager and young woman, my parents made sure that my priority was my health. Health came before school, friends, dating, career etc. That meant that the first thing I did every morning was take care of me (aerosal treatments and physio) and then I could go out and concour the world!  Growing up, there were few people who knew that I had CF. To the outside world, I was a normal kid with a normal life. It was my family and I who had to put in all the hard work to make sure that I lived the best life that I could. My parents always treated me like a normal kid. I was not given any special treatment. I was brought up to believe that with hard work I could have whatever I wanted in life. And hardwork included taking good care of myself and always keeping healthy....taking my meds, doing my masks, doing my physio, staying away from people who were sick with colds and flu's and any kind of bugs, washing my hands all the time to keep germs away etc...

A lot has changed with CF in the last 33 years and it is my life's dream to see a cure for CF.  I can only offer you some hope with my life story. I had a great childhood, lots of love, lots of friends...and now a husband who loves me and chose me knowing that I had CF and now we have a beautiful 4 year old daughter named Claudia who is healthy and does not have CF.  I have had a great life and I owe it to my parents. They stayed strong, never showed weakness, worked hard to keep me healthy, made sure I worked hard to keep myself healthy and still do that every single day.

It will be hard work but I'm still here today with a family of my own. No, it is not easy. Yes, I have bad days. Yes, there are times that I have to be hospitalized (what my mother calls a TUNE-UP)....but Yes, I have had a great life, I have a beautiful baby girl, and amazing family.

I hope this helps you.