Shocked

[anonymous]

Hi I am new to the web site and my husband and I have been trying to have a child for four years. We finally got pregnant with IUI treatment and fertility drugs.
Currently, I am three months pregnant with twins and just found out that my husband and I are both carriers of CF. The same exact gene deformity Delta F 508 which is the most common form. ( we have been told that is fairly uncommon for people to get together as a carriers but here we are.) To say the least we are overwhelmed. We do not have any other children and were having anxiety about twins but now this has compounded matters. Since I have found out the news I have not been able to eat well or sleep well. I am so concerned about the possibility of having kids with CF. We have met with a genetics counselor who has informed us that we have a 36% chance that one of her kids would have CF. There is a 6% chance that both will have it and a 42% chane that neither child will have it. The only way to find out in utero is to have an amnio done since CVF is out of the question for us. However, with having this procedure done there is a 1% chance that we may miscarry. We are struggling with this choice. Is there any one who was or is in a simular situation that can help us or just provide some coping skills. We are very afraid and I am concerned that with this level of anxiety I may not be able to provide for my babies the way I should be in terms of nutrition and rest. Can someone please help.

 

[anonymous]

Testing the babies now and risk something with it would only make sense for me if:
-you do definetly not want them if they have cf and
-you have the chance to abort them in this case

Uli,43,Germany,cf/cfrd

 

[thelizardqueen]

This is what I know, and I'm not sure if it pertains to twins, but rather single births: if both you and your husband are carriers, you have a 25% chance of having a kid with CF, a 50% chance that the kid will be a carrier, and a 25% chance that your kid will not have CF. This is what I found on the CF site, and this is what my CF specialists have told me.

Delta F508 makes up for 70% of all CF mutations. Both my parents were the carrier of the same gene as well. All this being said - I have a double Delta F508 (which is what your children will have if they have CF). It is ONE of the worst mutations of CF ( I don't want to sugar coat for you), but it all depends on a lot of factors. I'm 24 years old and VERY healthy for a CFer. I've also known some people with the same mutation as I and they were worse off then I was. It all depends on how diligent you are with treatments, life style choices, your sorrounding environment, etc.

I'm hoping this has helped you somewhat, I'm sure I haven't gotten rid of your anxiety though. I'm sure you will find a lot of helpful people on here though!

 

[anonymous]

Sorry, but I don´t think statistic stuff is of any real help...I know families who have 3 kids with cf, although the statistic chance was "only" 25 % each time and I´m shure, there are alot of carriers with only healthy/carrier kids out there and don´t even know, that they "missed the chance to get a kid with cf"...

Even if it sounds harsh: everyone who wants kids should think about the possibility that they are sick in some way (cf,heart problems,allergies,missing fingers,Down syndrome and so on) and if he/she wants them nevertheless.

Uli,43,Germany

 

[anonymous]

Some other mothers have been through this as well so you are not alone. An amnio is an extremely personal decision as there is risk to the babies.

I can tell you about my experience but your husband and yourself need to decide what is best for you.

When I was 20 weeks pregnant with my daughter I has an abnormal ultrasound showing an echogenic bowel. This propted my OB/GYN to encourage us to do some genetic bloodwork , a level 2 ultrasound as well. the bloodwork showed my husband and I were both carriers for CF . We were shocked. An amnio was an option for us to test the baby. At first we decided not to do the amnio because of the risk involved, but I was a wreck. Couldn't sleep, couldn't eat, couldn't go to work(cried at work) and I had a 4 year old son who needed a mom to stop crying and take care of him. I ultimately did get the amnio by an extremely respected and expert doc(I researched her ahead of time). Once I found out my daughter did infact have CF I was able to accept the fact and move on with my pregnancy and educate myself about CF.

I know some women have not opted for the amnio (when they found out of the carrier status) and still research about CF , CF clinics, pernatologist, Cf docs, ect.

Like I said it's a personal choice, only you can make.

I have a beautiful 3 year old daughter who happens to have CF

Rebecca

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/Great_Strides/RebeccaMurray
">http://www.cff.org/Great_Strides/RebeccaMurray
</a>

 

[LouLou]

I feel for you this must be a difficult time.

Just thought I might add that I'm so happy to be alive and I have an awesome job and get paid a lot for it. I have a wonderful family and husband. We've been together for 8 years. In early days I remember saying to him something like, "Do you ever wish your girlfriend didn't have CF and do you wish you didn't have to deal with it?" He has said to me at this time and others, "If you didn't have CF, you wouldn't be the same diligent, confident and wonderful person I fell in love with" He likes life just the way it is.

I wish you the best with the decisions pending and just remember that birth control is 99% effective and most women don't worry about getting pregnant while on it so that's one way to look at that one % chance of miscarrying the babies should you decide to do an amnio.

 

[anonymous]

I agree that I wouldn't put a lot of stock into statistics. I'm of no help with whether to have an amnio since I've never had one. I'd say you just really have to assess the value of your peace of mind when considering the risks (as the previous poster stated.)

One other thought I wanted to mention is related to why you needed to do ICSI. If the infertility is related to your husband due to CBAVD (congenital bilateral absence of the vas deferens), then there is a small risk that your dh may even have cf himself. The disease is so variable in it's presentation. Some are very sick from birth and have short life spans, some aren't even diagnosed until well into adult hood and have minimal symptoms. If your dh has CBAVD and any history of asthma, asthma like symptoms, or sinus problems, I would consider asking that he have a full screen through either Quest Diagnostic's extended panel or Ambry's panel. There are well over 1300 mutations and the typical carrier panel tests for something like 25 of the most common mutations. Check out "cowantriplets" blog. (See blog list on the left hand side of the screen and scroll down to "cowantriplets".)

Aside from that, try to relax. I know, easier said than done<img src="i/expressions/face-icon-small-smile.gif" border="0"> Keeping my fingers crossed for NEGATIVE results for your precious babies and your dh!

 

[miesl]

Genetics breakdown...

Identical twins (or higher order multiple). Since they have the same genetic makeup - it's the same odds as a single birth - one in four (the twins will either both have CF (25%), both be carriers (of the same gene - 50%), or both carry no CF gene at all (25%)).

Non-identical twins (or higher order multiple). These do not share the same genetic makeup. Each child must be considered separately. There are 16 possible outcomes.

1 in 16 that both will have CF (6.25%)
1 in 16 that both will carry no CF gene (6.25%)
1 in 8 (2 in 16) that one will have CF and the other will carry no CF gene. (12.5%)
1 in 4 (4 in 16) that both will be carriers (25%)
1 in 4 (4 in 16) that one will have CF and the other will be a carrier (25%)
1 in 4 (4 in 16) that one will be a carrier and the other will carry no CF gene. (25%)

No children with CF - 56.25%
One child with CF, the other without - 37.5%
Both Twins with CF - 6.25%

If you do not want to risk the amnio, have both children tested at birth (a simple blood test should catch it since you both have DF508).

Either way, there is nothing you can do right now other than keep yourself healthy. This is the best thing for you and your twins (CF or not).

 

[jenniferp]

I'm so sorry your here in this position, I know exactly how you feel. We had the amnio done, knowing we were both carriers and learned our son did/does have cystic fibrosis. It was tough for me not knowing
I did the amnio because I needed to either feel the relief of KNOWING the baby was fine, or accept that fact that my son would have cystic fibrosis. i needed to do one or the other before he was born, I wanted time to adjust.
Everyone is different, you will make the best decision for you.
Also, echogenic bowel is one of the first signs of cystic fibrosis in an unborn baby, this is viewed by level 2 u/s and was noticed in my 16 week u/s.
HTH

 

[catboogie]

i know it must be scary what you are going through, but please try to keep in mind that your babies are the way that god or the universe (whatever you believe) intended them to be. it may be more work if they have cf. they may be very healthy and not that much work. there are so many treatments for young people these days so that CF progresses much slower than it used to. your kids may be perfectly healthy!

please try to be positive and try not to be scared. have faith that you can handle the hand you are dealt. and keep in mind that CF is NOT a "death sentence."

good luck,
laura, 27 w/CF and living a great life.

 

[Ratatosk]

When DS was born they didn't do newborn screening in our state, nor did they do carrier screening. So it was a complete surprise less than 12 hours after he was born to find out he had a bowel obstruction and could possibly have CF. No family history. He was lifeflighted to the cities for surgery and spent 4 weeks in the NICU. During that time genetic testing was performed and it was determined DS had double deltaf508.

Looking back, it would've been nice to know beforehand that DS had CF. Things could've gone very badly. DS was examined by 3-4 different doctors who determined he was fine, before the neonatologist in the local NICU picked up on the problem. The one and only pediatric surgeon in town was on vacation and the regular surgeon didn't feel comfortable doing this type of surgery. Thank goodness! Everything happened for a reason -- DS got the best possible care, the hospital is part of an accreditted CF center, so during our month stay we learned about CF, CPT, medications, nutrition....

If you don't feel comfortable having your unborn children tested because of possible risks, just make sure you ask lots of questions about "what if your children have CF and are born with bowel obstructions due to meconium illeus" Do they have a pediatric surgeon and a high level NICU to give your children the best possible care possible?

Liza mom to an almost 3 year old wcf

 

[Jane]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jenniferp</b></i>


I did the amnio because I needed to either feel the relief of KNOWING the baby was fine, or accept that fact that my son would have cystic fibrosis. i needed to do one or the other before he was born, I wanted time to adjust.


HTH</end quote></div>

I did this for the exact same reason, I wanted the diagnosis and the birth to be two separate event.
This must be so hard for you, I know it is.

 

[anonymous]

Karen -
Wow I didn't know that about your girl - you have really been through alot of emotional things!! The doctors did that to my cousin too. They chose not to abort also - and had a beautiful baby boy!

I would just like to add that I have a 9 yr old boy w cf. Other than nasal polyps removed 3 times he has been pretty healthy. One good thing about cf is that no one knows there is anything wrong with him - which helps us all cope. He plays all sports and does everything else a little boy can do. We wouldn't trade him for the world!! When he asked about dying earlier - I just remind him that no one has a guarantee and we will do treatments and take care of him!!

Mother of 9yr boy w cf

 

[wallflower]

I have some friends who had the amnio done and hated it. It's hard to know, but if it was me, I guess I would assume the children will have cf, and be wonderfully surprised if they don't when they are born.

I am guessing with all the work you two went through to get preg, that abortion is the last thing on your mind. Unless you don't want the children if they have cf, I say don't do the amnio. Trying to plan ahead on what medical needs they will have will be very difficult until they are born, so don't stress yourself out too much with what they will need - do find an actual cf clinic, and talk to them with any concerns you have (they know so much more than a normal doctor).

While every cf child is different, medical care is so good these days, that cf is not just a childrens disease anymore. Majority grow to live normal adult lives with medication and therapy. While the average survial age is 36, that number goes up each year - don't be discouraged!

Being first born, with cf, my parents were very afraid to have more children. Luckly, my sister and brother were both born without.

 

[anonymous]

When I was pregnant with my first child, the did gentic testing on my husband. He was negative but then they also did a super duper ultrasound looking for a bowel obstruction. they did offer the amnio to me after all that was done because they said that knowing if the baby had cf would help after delivery in her treatment.

 

[becca23]

That was me forgot to login

 

[julie]

Just for clairification, IUI is not used in men with CBAVD because their sperm are not swimmers. IUI is only used in cases where there may be a quantity, not quality issue or female problems.

ICSI can be used only with IVF, GIFT and ZIFT. Just wanted to clear up that since they did IUI, it would be very unlikely that the husband had CBAVD. I could be wrong, but just wanted to straighten those facts out.

To the initial poster. I have no feedback/recommendations for your personal situation. However, I do wish to share with you that I am married to the most wonderful man, who just happens to have CF. He was diagnosed at about 18 months, is 25 now and will be a dad to triplets this fall (We did IVF to get pregnant). Even though CF can and sometimes is a scary disease and there are obstacles to face, I just want you to hear and know that there are many CFers out there who lead very successful, productive lives.

Whatever you choose to do (Hopefully you will get some more feedback specific to your question-also, you might find the search feature useful as you can see other times where parents with the same questions as yours have come on this board and recieved answers to their questions).

Best of luck with your decision on the amnio and the decision on the pregnancy. It is a very difficult decision for both of you to make, but either way, you are doing the right thing for you and your family.

 

[Scarlett81]

So sorry you're going through this difficult time.

Testing the fetuses while pregnant is obviously a much debated and personal matter. Just giving my opinion- I think there is so much information on negative effects of having the cf test-or any other health test- on a fetus. Please be sure to thoroughly research and even talk to other mothers about having the amnio done. (perhaps you already know-I'm just assuming you don't, so if you do, disregard this.)

One thing I'll tell you now-is yes, Cf is serious. Yes, this is scary. But-when I was born-1982, my family was told I would't live to be 6. When I was 6, they said 12. When I was 12, they said 16, then 20. And here I am, 23-and fairly healthy, married, owning a home, living a happy life. Imagine how well your child could do, just becasue it's born in this day and age- when they have so much more caretaking options for people with Cf.

 

[NoExcuses]

I've been asked this before. What would you do if you knew you were goig to have a baby with CF?

Well, I've lived through 24 years of CF. It ain't easy. But it certainly isn't the worst luck of the draw.

I have a roof over my head - every night (unless I go camping)
I get 3 meals a day (or more so - I have a little in the middle to jiggle)
I live in the best country in the world for medical care (and I pay for it - but it's the best, barn none)
I have a family who loves me, cares for me, encourages me, and looks out for me


<b>How many people on this planet can say ALL of those things that I just said? Not many.</b>

And think about the life expectancy a new born with CF has.

CF isn't an easy fate. And there are tough times, no question.

But it can be done. And done well. There is always hope <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Scarlett81]

Well amy, I can't tell if this was a retorical question....but I'll answer you! I would definately have my child. This is obviously a personal decision and verging onto a controversial topic which I think should be avoided right now....but, I personally feel that you deal with what life gives you. You don't run away from it. And I'm positive that my loved ones have gained from my existance, and they wouldn't have traded me. I'm glad that my mother didn't say-this one's not going to work out, so I'll try again.<img src="i/expressions/face-icon-small-smile.gif" border="0">
And many people that have cf agree that just having it has given them a valuable perspective on life, which helps others in their life too. So in my opinion-you take what you get. You make lemonade out of lemons.