My babies have Cystic Fibrosis
This seriously doesn't even seem real to me. Every health care provider we've seen has reassured us that we couldn't possibly have this terrible disease.
Reagan didn't pass her NB screen but Alexis did, so she has had 4 sweat tests to try to confirm that she (aka they - they're ID) are carriers of CF. She hasn't been able to pass the test (either insufficient sweat or inconclusive results) but the genetics counselers continued to reassure us that they are healthy and couldn't possibly have CF(but still ran the full gene panel to be sure). They are normal weight, they haven't had any serious infections or any problems like that...
On Friday I got the call that they have atypical cystic fibrosis. DH & I are completely blown away. We are told that they may have mild symptoms or show signs as they reach school age and that we will be taking a watch & see kind of approach with this. The hope is that their life-expectancy may be normal (which is definately reassuring) We see the pulmonologist in a month.
Even so, I'm just so devastated. No one wants to hear that their babies are sick or could become very sick. I have no idea what to expect...
To top it all off... DH's mom told the entire family this weekend, and then told them NOT to say anything to me because she didn't want to upset me any more than i already was. So I spent the memorial day picnic trying to figure out why only 1 aunt gave me a hug and said anything reassuring...
I'm sorry this was so long. We haven't told more than family yet and I just needed somewhere to vent
Re: My babies have Cystic Fibrosis
I'm so sorry you got that dx for them.... but thankful it sounds like it won't be that bad for them- and how great that Natalie responded, too. Prayers will be said for you and your girls - i'm sure it will be hard to work through the feelings.
A neighbor boy that I grew up with also had CF and they told his family (who warned everyone else) that he probably wouldn't make it to his late teens. He's a happy and healthy 25 year old college graduate, and still going strong
T&P for you and your babies!!!
Thank you so much for your kind words. It is so reassuring to meet and hear from people with positive experiences. Thank you for your recommendations for providers, too. We will definately keep that in mind if things don't work out with UH. I'm so glad you've been healthy. Although they hope our girls will be the same, no one can give us definate answers. Again THANK YOU. I really appreciate it. (Hope you get your BFP soon!)
After 2 rounds of IVF & 2 rounds of FET, we were blessed with identical twin girls!
My DH has atypical CF, it was not discovered until he was an adult and he is for the most part very healthy. When he gets sick he gets much sicker than others and has some absorption issues but is doing really well. His CF probably would not have been found without the full gene panel, he has two very rare genes, that and the CBAVD which led to his diagnosis.
Try not to panic, get into a CF center, not just a children's hospital but a CF center where there are doctors that specialize in CF. Atypical can mean almost no symptoms and a likely normal life. Here is a list. I am so sorry you are going through this ((hugs)) PM me anytime. Take care.
https://www.cff.org/aboutCFFoundation/Locations/FindACareCenter/
some great message boards https://forums.cysticfibrosis.com/categories.cfm?catid=902
Hugs to you and your girls! (and your DH!) And sorry that your MIL was such a tool.
BFP #2 - 12/9/09 After being on bedrest for 10 weeks due to TTTS and hospital bedrest for 4 weeks due to PPROM, my sticky babies are here! Born at 32 weeks!!
Thank you! I remembered your siggy and was hoping you'd respond. I was curious what your DH's symptoms were like, so thank you for sharing with me/us. Thank you for the resources. Our hospital/program is on that list which is great. I may end up PMing you at some point, but will look into those websites in the meantime. Thanks
I'm so sorry. I can't imagine being told it wasn't possible, and then getting that news.
T&P for your little girls. I'm so glad others have responded with some positive stories for you.
TTC #2 since 4/09
Unexplained Secondary IF
*****************************
4 failed rounds of clomid ~ 4 failed IUIs ~ 1 m/c
2/3/11: IUI #5 - Femara/Follistim/Ovidrel/Crinone = BFP (2/14)!!!
Beta #1 (12dpiui): 53 Beta #2 (14dpiui): 203 Beta #3 (20dpiui): 3932 Beta #4 (28dpiui): 60,775
1st U/S (3/3): 2 sacs & yolks 2nd U/S (3/8) 2 heartbeats-TWINS!
Baby A:6w6d HR 131 Baby B:6w4d HR 124
TWINS!! EDD 10/25/2011
I'm so sorry. What a scary diagnosis. Sending many thoughts and prayers that your LOs stay healthy and thrive, like so many of the people who have already posted! I met a classmate of DH's at his 20th HS reunion who has CF, and she's doing great and is the mom of two kids. Another success story!
I'm sorry for such a scary diagnosis. I don't know much about CF but I did have a law school classmate who had CF who was in her mid-20s and doing fine at that time. Last I heard, she was still doing well (we're in our 30s now).
Prayers and thoughts for your family and your girls.
I'm so glad your daughter is doing so well - love to hear the word 'thriving'! It appears that our hospital/group is on the list, so I guess that's a start. I would love to be in touch with any other parents with LOs with CF if I can... Please let me know (how) Thank you!
)
I was lurking and wanted to add another word of encouragement to your post from personal experience. My father was born with a genetic disease which has symptoms nearly identical to CF, but a different biological basis and comparatively rare. The only problems he had as a child and young adult were a tendancy to need more time to get over colds and needing to occasionally clear his lungs out by having his back patted...I remember when I was young very clearly that he was just like other dads - swimming with me at the beach, biking, coaching softball, etc. He was well into his 40s before experiencing any significant problems and even then, made it another 10 years with mostly good quality of life. My understanding is that today, the prognosis for these children is even better. There is no reason to believe that your daughters will not have a good life.
First off, big (((hugs))) to you. I am sorry your daughter's received the diagnosis. Someone referred me to this thread so I could add to the words of support because I am another CF "success story." My parents went through the exact same thing you did when I was a baby ("no way, she doesn't have it...ooops, I guess we were wrong") and I have atypical CF.
I don't need to take digestive enzymes and I am 34 and still have a lung function over 110%. In 34 years, I've had two major illnesses and several incidences of bronchitis and sinus infections. CF takes up a lot of my time and I get sick more often than my friends, but I still consider myself having a normal life! I have two degrees in engineering and graduated top of my class while playing a varsity sport and working a part time job. I am married and have a daughter. I worked in engineering for 7 years before becoming a SAHM.
CF, especially atypical CF is not the death sentence it used to be! Plus, there are some new drugs coming out that are amazing. They correct was causes CF at the cellular level, and the people who have taken them in clinical trials are praising God. Everyone in the CF community is so excited about them!
It is a lot of work, though. Doing treatments, visiting the doctor, dealing with insurance, etc takes up a lot of time, but it's almost like, this is what I've always known, so, even though I complain sometimes, it's not too bad. I get up, do my treatments, and then start my day. I've found ways to work them into my life (like using my nebulizer while doing dishes, drying my hair, even driving!) I would definitely recommend reaching out to other parents who have children with CF. You will need the support. The link to the CF forums that pp provided is a great way to connect with other parents. I do want to warn you that you will see some of the more severe cases on there, so a lot of people need to take occasional breaks from the boards.
If you want more detail on what my life has been like with CF, feel free to PM me!
Thank you so much for your positive story. I've added your blog to my favorites and will eventually be PMing you. Honestly, I'm so overwhelmed right now that I walked away from the net for a few days. Tonight I came back and spent about an hour and a half tonight trying to find journal info on their specific mutation, and since nothing has really given me any answers (I'm yet again overwhelmed)... I'm a physician assistant, so I have medical background and knowledge, so I really DO wanna know best and worst case scenarios. Unfortunately as a MOTHER, I'm overwhelmed and I'm gonna walk away again for a few days. I really appreciate your reply and hope to chat with you soon.
I hope you don't mind that I'm responding. I usually post on the IF board as we are going to start our first IVF cycle in July. I lurk over here sometimes and saw this post.
I wanted to say, I'm very sorry that you are going through this. My DH is 29 and has CF. I'm not sure which strand he has, but he wasn't diagnosed until he was 13. He's been healthy for the most part. He sees his CF drs every 3-4 months and with the help of a few medications, vitamins and enzymes he's able to keep his symtoms under control.
Your girls will be able to also! They can still live long happy normal lives.
If you have questions, feel free to PM me. Good luck!!
{{HUGS}}
I just saw your response today - of course you are welcome to reply and thank you!
) Love to hear any good stories. I hope your DH remains healthy and well 
T&P for a successful IVF for you and DH!