20 Weeks Pregnant and found out baby has DDF508 CF - What to expect, and what to do?

[dougs280z]

We only need helpful comments here. Please keep anything negative to yourself.

We just found out we are both carriers of D508 gene and our 20 Week fetus has CF. We found out because echogenic bowel was discovered on our 18 week sonogram. From what I read (correct me if I'm wrong), this is the worst kind and due to the echogenic bowel, the baby will already have to have surgery when it's born. We are very distraught and don't know what to do. We decided to keep the baby no matter what last week before we knew for sure if it had CF, and now that we know for sure, we are unsure what to do again. On one side we think that we can definitely handle it won't be that bad. On the other side, we think that it may be a miserable life depending on the severity and is it our duty to protect this child from that pain and suffering? We have a 2 1/2 year old that is healthy and we don't know how the two would be together. Would the new baby always be jealous of our 2 year old because she's healthy? We have read lots of articles and watched videos and there are two completely different sides to this. I think we are strong people, and a strong couple, but it's still so much to deal with. I feel like either decision has extreme negatives, as well as the positives. Has anyone been in our situation before and can offer any advice? Thanks in advance.

 

[Aboveallislove]

Dear Doug,
I am so sorry for the pain you and your wife are suffering. Our son is 3 and has 2 copies of ddf508--the supposed "worse" mutations. But as everyone here and the doctors (should) tell you, there is no way of knowing the severity from the mutation. He is the happiest little boy and the joy of our lives and I could never imagine him not in our life. Yes, CF sucks. But life does not and as a dear friend said to me in my guilt once--he would ALWAYS choose life. And there is pain in everyone's life--some have more and other's less. And there is so much hope for mediciations that truly will be like a "cure." There is one that is fo ddf508 that is entering Phase 3--which is right before it goes to the FDA. And another in Phase 2 that is even better. And these are "first generation" drugs. By the time your baby is 3 or 4, these will likely be ready and while there is no guarantee, there is no guarantee in anyone's life. And from reading here, the sibblings always have challenges but they have an amazing relationship. Yes, there is so much to worry about and I wish I could take that away, but there is so much hope. I am happy to walk you through the first year if that will help. And I'll pray for you and your wife and your precious baby.

 

[Ratatosk]

We didn't have a clue about this when DS was born over 9 years ago. Didn't show up on the US. Normal pregnancy and birth and the next day DS started vomiting. Ended up he had meconium illeus and had to be lifeflighted to a children's hospital in the city for surgery -- our local pediatric surgeon was on vacation. Next day DS had his surgery to repair the obstruction. Genetic blood tests indicated ddf508 about 5 days later. We learned about CF, enzymes, cpt while DS was recovering. We'd have been home earlier; however, DS spiked a temp and ended up with an infection. So we spent an extra few weeks in the NICU while he was on IV abx. Otherwise we'd probably have been home a week after the surgery because he was stooling, eating.

DS is a busy 3rd grader. Most of his issues have been digestive. We took it one day at a time. Got into a routine with feedings, chest physiotherapy, nebulizer treatments and medications. When he was 3 months old I went back to work full time and he started daycare. He had a couple ear infections and colds that first year. He was probably the healthiest child at his daycare. Didn't miss any days of kindergarten or 1st grade due to illness. 2nd grade he got a normal run of the mill stomach bug and was out for two days.

I was terrified when he was diagnosed because most of the parents who'd spoken to me locally had older children who were really sick, who'd spent most of their first couple years in the hospital. DS has had one hospitalization since he was first diagnosed and that was due to some adhesions from his surgery as a newborn which caused another obstruction.

We pretty much have a normal child who just has to do a few extra things to keep healthy. I have a friend who has TWO children with ddf508 and they've been relatively healthy as well. They have issues with gaining and maintaining weight, one has sinus issues (polyps). Another friend of mine has a child who is 9 and most of her issues were because she wasn't diagnosed until 18 months. Once they started enzymes and treatments, completely different child.

 

[JENNYC]

I am so sorry!! Before I tell you this just please know that every person that has CF is different and their bodies handle it different. That being said I have a cousin that is 34 years old and has DDF508, he is AMAZINGLY healthy! He skips his treatments on a regular basis, he has only been hospitalized once in his whole life, his lung function is upper 80's, he is just now having sinus polyps, so is just now having to see an ENT!!! I just found out his mutations yesterday and was stunned!! Literally stunned!! Joey is so healthy, nothing like my little girl, who is great but to not be hospitalized but once in your life!!!! Come on!! So there is such hope! You just never know! He doesn't have lung problems, he says his is mainly digestion problems. Keep your chin up!! While it's not easy finding out and learning how to deal with it, it is so worth it! You are going to have a beautiful gift from God! The first year was the hardest for us! We went through every emotion, anger, sorrow, joy, anguish, everything you could think of. One day it will get easier, one day you will look at your beautiful child and realize CF does not define them. I wish you all the luck in the world! If there is one piece of information I can give you, stay a part of this group, stay active, make friends, while your family will be a big support group, there will be times when you just want a friend that understands what you are talking about, understands what you are going through, and what you are feeling. I have been through so much that I could've got through without them but with them it was so much easier!! Knowing that I could come to someone who knows, who understands. This first year will be a whirlwind, but you will get through it!! There is so much going on right now in research that is truly making dreams come true, and making people better. God Bless you and your wife and your precious new little one.

 

[dougs280z]

Thanks for the replies and information. Aboveallislove - If it isn't too much trouble, we would really appreciate a brief walk through of the first year or two. We do read a lot about children after 5 years, but we're not totally sure what to expect in the infant stages and what drugs/devices/therapies will be needed.

We know that no one would ever say they shouldn't have had their kid, but we feel like since we do know before most people would, that we have been put in this situation to make a decision. This is the worst decision that we have ever had to make. We look at both of our options and have issues with forgiving ourselves either way. We want what is best for this baby, and our family.

 

[bcl0328]

since no one here with CF has chimed in yet, i will say it SUCKS living with it. every day i hate my life, hate the fact i can't be normal, the fact i won't live as long as every one else. my constant coughing bothers me and every one around me. there are SO many complications from CF that i am living with, and your unborn child sounds like it has a worse case than i am. sorry to be blunt, but it's the truth. i always wonder why i had to be born with this illness and why can't i just do what every one else does without limitations. getting up every day to do meds sucks, having to exercise daily sucks, and i know my body will only get worse.

i was born with CF and this is my .02 cents.

 

[Jennyvb17]

Doug- I also have 2 df508, genes can't tell you how the symptoms might occur. I am 30 years old, have a bachelors degree and work full time in human resources. I was raised without a clue tht cf should limit me. I of course figured that out eventually, but wasn't hospitalized until high school. ( after my bowel obstruction at birth ). I have an older sister who is 2.5 years older than me. She is my rock! No one stands behind me, let's me cry, or snaps me out of my bad days like her. I am sure she struggled coming to terms with me being treated slightly different, but my parents always made special time for her as well. Doug this baby could have a full and happy life!

 

[sdavis227]

DS was found to have an echogenic bowel at 17 weeks and at 20 weeks we found out that both DH and I were carriers. We were devastated, completely saddened and scared to death. We decided to do as much research on CF as we could. I came here and got quite a bit of great advice. I switched which hospital he would be born at so that he had the best NICU. We visited with a genetic counselor and also the head of the NICU and even put in a call to the CF center (even though they said there was nothing we could do until DS was born).
I truly do believe that the information that I received helped immensely.

CF is a tough disease. But there truly are great things that are being done to prolong their lives and I have great hope for my son's life. I do agree with PP that the first year is the hardest but things do become second nature and now I second guess myself when I feed someone else's child and they haven't had enzymes.

DS did NOT need surgery for his echogenic bowel. They were able to get him to pass it with enemas instead. So, no. Echogenic bowel does NOT always mean surgery even though it could be necessary.
Also, my son's are 2.5 years apart. They are extremely close and I have not seen either one "jealous" of the other (I had thought the older may be jealous of younger because of extra attention with treatments or such).

Of course we would never give up our 5 year old for anything. He is a very happy child who happens to have Cystic Fibrosis. He hasn't been hospitalized in the past 2 years (knock on wood) and just started Kindergarten this year. He runs around with his friends and brother and we don't feel as if we need to keep him in a bubble - we let him live life and he's doing great. Both of his mutations are in the same class as yours (his are DF508 & DI507).

Congratulations on the pregnancy and I am sorry for your diagnosis of CF. I am very happy that you found this site though, because I know how much the people here have helped me.

 

[rndstraight]

Doug, I am sorry you are going through this. I can tell you that hopeless feeling does start to fade. Our baby boy is 8 weeks old and was diagnosed last week with CF. He also has two mutations in the same class as your son. DF508 & DI507. We were devistated and the weeks up to diagnoses were the worst. We met with the team at the CF center here in Charleston and I can tell you we now have so much hope. We were told to treat him just as we would any other baby. The only difference is his treatments. However those will end up so routine that he won't know any difference. We also have two other children. A 12 year old without CF and a 5 year old without CF. I can tell you that they love their new little brother so much. Our baby boy is so happy and has such a personality. He is so strong and truley is an inspiration to our family. We have so much hope and I hope you will soon be blessed with this feeling we have. Congrats on the pregnancy!

Renee
Mother to Colin, 12, w/o CF,
Jackson, 5, w/o CF and
Preston, 8 wks. w/CF

 

[dougs280z]

Thank you all. We decided there's no way we could give this baby up and wonder "what if" the rest of our lives. We have both come to terms with it and know there's nothing we can do but to adapt and give this baby all the love we can. We know our daughter will be a great big sister and we look forward to her helping raise her new sister (it's a girl by the way). We really appreciate the kind words and the advice you all offered. Please continue to give us any stories/advice/things to expect as this is all very new to us. Thanks again.

 

[Aboveallislove]

oh Doug, my heart is rejoicing. It is hard, but it is worth it. And your daugthers will be blessings to each other. If it would be helpful, I'd be happy to put together a summary of "what I wish I knew from day 1" for you and I can PM (private message) it to you. My husband and I do cyber free weekends so it would be Monday at the earliest. Also, you might want to start a new thread asking about what to do/expect with potential obstruction at birth--I do believe that many are actually able to be passed through various non-surgical meds and also that it might not be an obstruction even if it appears. And if there is anything else that will help you please let us know!

 

[CrisDopher]

Doug, I have double deltaF508. And I will turn 41 on Monday.

With the treatments and medications available to today's CF patients, I would say to brace yourself -- to raise your child to full adulthood, enjoy his/her triumphs and successes, and - in all probability - he or she will live long enough to bury YOU. When I was born, I was not expected to live to 16. Well, look at me now, eh?

So your child's life - and yours - will have a sidecar of responsibility; to do the therapies, the treatments, the meds, to maintain. Every day, without question. You can negotiate bedtimes, desserts, and dating curfews, but CF care CANNOT be on that table. That is the one thing you will have to adhere to that your friends won't have experience in. The CF parents here do.

It is a long, hard job - but no harder than raising any other child, really. And like I said, with today's treatments...and the new Vertex drugs that are coming.... in a few years CF may not be considered terminal (with consistent and proper care) anymore than diabetes is. For the first time in my life, I believe we are on the cusp of getting fundamental control over this disease - and I think that bodes well for your child.

 

[Ann1953sj]

Hi Doug, My son didn't have an obstruction at birth but he is ddf508. He's 27 years old, graduated from a university with a chemistry major, has been living with his girlfriend for over a year and every day I've been grateful to be his mother. We waited 7 years to have a baby because we wanted to make sure we were ready and I thought I was loving him as much as I could until he was diagnosed at 8 months; then I loved him even more. Of course I went through a period when I was in shock but like "Aboveallislove" said, it's worth it.

 

[CrisDopher]

I guess what we're saying, Doug, is that a diagnosis of CF is no reason for early termination of the pregnancy. Twenty years ago, I would have considered it a viable and merciful choice. But when median survival rose above 35 for the first time and we began to see far, far fewer patients die in childhood and far more patients living into their 60s and beyond...well...let's just say that even with the world's problem today and even with the downsides of CF, it's a great time to be alive.

 

[pixiedust71]

I just want to you to know. I am forty years old with the same mutation as your unborn little one. I have led a full, wonderful life. I'm not saying I have not faced some challenges, I have. But the doctors were wrong when they told my parents many years ago that I wouldn't live to see 12. There are so many advances happening everyday in medicine! And doctors just don't know everything . I would love to speak with you if you have any questions. And I have had 2 careers, a bachelors degree, I am happily married and gave birth to my own healthy non Cf little boy of 5.

 

[dougs280z]

Thank you all again! We really are glad we came here for advice and found people that have a lot of knowledge about our situation. ABOVEALLISLOVE - We would really appreciate a "what to expect walk through". Or if anyone else can send any info on that it would definitely be appreciated. Thanks again for everything. My wife and I feel much better about everything now.

 

[Aboveallislove]

Doug,

Check out these threads. I have some of my "what to expect" there and others do as well. I’ll try to summarize and put together in one post so that it is easier to follow, but these threads will give you others/different insights as well.


http://forum.cysticfibrosis.com/threads/29582-What-do-you-wish-you-would-have-known


http://forum.cysticfibrosis.com/threads/29579-Grandson-diagnosed-with-CF-through-Newborn-Screening


http://forum.cysticfibrosis.com/thr...um-Ileus-update?highlight=daughter+ultrasound


You’ll see one is on meconium ileus. On that note, I would go to cff.org and find the closet accredited CF centers (if you post your general area folks can likely help too), and find out how that CF center handles newborn meconium ileus–are they proactive to prevent surgery/using latest in CF care, etc. Do they have surgical teams well trained in this area, etc.


The only other thing I would add now is to research your health insurance and especially prescription benefits. My options include "basic" and "standard"–only one of which allows mail order prescriptions. Mail order for Pulmyzome is $70 for THREE months; local co-pay at pharamacy is $600-900 for ONE month. I believe you can switch health insurance at your child’s birth because it is a "qualifying life event" so you want to make sure you get the best possible coverage. Also, I’d also call the local pharmacy chains and ask to talk to the pharamacy manager. Explain situation and that you will likely need help with "rush" prescriptions and other things and see how they are. We have the BEST pharmacy manager who has pulled lots of strings for us–but had several trips first to ones that were worthless.


Again I’ll try to put a "master" summary for you later this week but this should get you going!

 

[dougs280z]

Thanks. I just printed all three of those forum links out so we can start reading up on it all. We are from Pittsburgh PA and I think our childrens hospital is a pretty good one and I know that's where we would go for the CF specialists. Our insurance is excellent right now until July (baby is due in January). After that I know the insurance is likely to change to a high deductible plan. I'll be sure to fight for a little better insurance plan if I can. Thanks agian and we'll start reading up tonight.

 

[Ratatosk]

IMO, I would check to see if the hospital you're delivering at has a high level NICU. I mentioned previously that DS had to be lifeflighted to the City because our local pediatric surgeon was on vacation. At the time, it didn't seem like a good thing; however, DS' surgery ended up being a little bit more complicated and timeconsuming that expected. While the local pediatric surgeon had experience with meconium illeus/bowel obstructions, we're not so sure the outcome or recovery would've been as great. DS was stooling a few days after his surgery, eating about a week or so later. Didn't need an ostomy...

As others have mentioned, your child may not need to have surgery. It's just best to be prepared should the need be there.

 

[CrisDopher]

since no one here with CF has chimed in yet, i will say it SUCKS living with it. every day i hate my life, hate the fact i can't be normal, the fact i won't live as long as every one else. my constant coughing bothers me and every one around me. there are SO many complications from CF that i am living with, and your unborn child sounds like it has a worse case than i am. sorry to be blunt, but it's the truth. i always wonder why i had to be born with this illness and why can't i just do what every one else does without limitations. getting up every day to do meds sucks, having to exercise daily sucks, and i know my body will only get worse.

Wow. This seems extraordinarily negative. What is going on in your life that THIS is your contribution in a thread where a new CF parent needs some reassurance that it's not the end of the world?