New with Questions

[Lyssa]

I hope I am posting the right place. I have been lurking your boards for a few days and I think I am ok with posting here. I went to my 20 week ultrasound last Thursday, only to be told that my baby has a bowel blockage (meconium something or other) and that it usually means CF and now am being sent off to a genetic counselor this Wednesday. I am scared to death that there is something wrong with my baby. I had never really heard of CF before this (I hate to admit it but I actually thought it was contagious when my son was younger) except at my son's pulmonology clinic (he goes there for acute asthma, since he was born).

My questions to you all are, where do I go from here? I had the blood test done to see if I am a carrier, but have since been told that the blood tests don't work for all of the mutations. Also, they think they see a scrotum, but no penis is visible and until last Thursday thought the baby was a girl. I am really worried that there is more than what they are telling me, but I guesss I won't be sure until Wednesday.

Do any of you know how possible it is my baby has CF just by having a bowel blockage alone? Also, what do they do for a bowel blockage this early in utero? Do they just wait it out? Early delivery? I am just really nervous and scared right now, and this seemed the most knowledgeable place to turn. Thank you so much if you read this far! If you have any questions for me I am more than willing to answer, I am sure I probably left a few things out, but I am not sure what is tangible information here and what is just normal pregnancy stuff. My son's pregnancy was soooo different than this one. Once again thank you!

 

[julie]

Lyssa,

I am the wife to a 24 year old man with CF (almost 25 on the 15th-yyyyeeeaaaaaaaaaaahhhh) so I can't answer the specific questions about babies, but there are many parents on here who can and will. I'm going to attach some links to previous posts with similar questions in case that might help. THis was a holiday weekend so it seems a lot of people are out of town. Hopefully you will have many more posts this time tomorrow!

<a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=4231&FTVAR_MSGDBTABLE=">http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=4231&FTVAR_MSGDBTABLE=</a>

<a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=4132&FTVAR_MSGDBTABLE=">http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=4132&FTVAR_MSGDBTABLE=</a>

<a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=3604&FTVAR_MSGDBTABLE=">http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=3604&FTVAR_MSGDBTABLE=</a>

<a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=2405&FTVAR_MSGDBTABLE=">http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=2405&FTVAR_MSGDBTABLE=</a>

I wish I could be of more specific help, but this is not something I have experience with.

Anyways, welcome to the site and please ask, ask, ask. Also, at the top of each post you will see some "characters" (a lightbulb, magnafign class and lock looking thing) the lock looking one is so you can Private Message anyone who has that feature on. Feel free to use it, sometimes it's easier to just talk back and fourth with one single person who's "been there, done that". If you use it, when you log on, the top Left side of the website will tell you if you have any new messages.

Welcome to the site,

 

[ashton2005]

lyssa, hi my name is christi. I am 34 weeks pregnant and found out about 2 months ago that our baby has cf. I originally found out that i was a carrier through routine blood tests then we had my hubands blood tested to see if he was a carrier and imagine that he was. so they sent us off to the genetic counselors and they saw the distended bowel with a possible blockage on u/s. so we elected to have the amnio done just so that we could prepare ourselves mentally and emotionally for the delivery. Also so that i could decide what i was going to do when it came to working after he was born. All that they have done for the blockage for now is watch it we go for another u/s on october 19 and they have mentioned that we may deliver early and my ob is recommending deliverying by c-section due to his size at the last u/s and the blockage. yea we were lucky and we carry the most common mutation deltaf508 so it was seen in the blood tests but that is a possibility. it is very possible on u/s for the labia of a little girls vagina to look like a scrotum due to is being swollen, i have heard this due to working in the medical field with x ray and u/s techs its still worth watching but hopefully that is all that is. I was told by my genetic couselor and dr's that the blockage can be from the baby just accidentally swallowing amniotic fluid and it not making its way through but then also that it is a sign of cf and other things as well. I had a perfectly normal prgnancy with my fist child also so i know exactly where you are coming from the genetic counselors and this site i think will help you a lot everyone on here has been there done that so it is really nice to have them to talk to. They told me even with the cf diagnosis that they would manage my pregnancy normally other than the possibility of delivery eary. hopefully you get all the help you need from us and if you have anymore questions please feel free to ask.

 

[anonymous]

Melissa,
I'd contact your older ds's pulmonologist. They may want to sweat test him just to be on the safe side (if they haven't already). Also, they can give you lots of information on cf. I'd also read through the forums because some medical professionals can make it sound much worse than it is for many living it. Good luck!

 

[anonymous]

Melissa-
First of all, congratulations on the baby you are expecting. They will be an enormous gift - regardless of a cf diagnosis or not. I have a four-year old daughter and two-year old son both with cf. Jack showed signs blockage when I was 24 weeks along. He did end up having meconium illeus (inability to pass stool) at birth. I learned a lot about what to should be done during pregnancy and what to do after birth. Send me an e-mail and I can pass on some info to you.

One other piece of advice - I have heard from a lot of cf mom's that genetic counselors do not know a lot about cystic fibrosis, so don't let them scare you or allow them to pass on too much info to you, they could be wrong. They are experienced in how the genes are transferred, not the disease. Your son's pulmonologist would have a lot more valuable information for you.

e-mail me at sdelorenzo@sbcglobal.net

Sharon, mom of Sophia, 4 and Jack, 2 both with cf

 

[anonymous]

Melissa,

For your unborn baby to have CF, you and your husband both have to carry the CF gene. I would definately have both your husband and yourself tested for the CF carrier test. Yes, there are some rare mutations but they screened for about 800 CF mutations when my husband and I were tested 3 years ago. Also, if you and your husband are carriers, I would go to a reputable CF center to get your son a sweat test. You can find a CF center at www.cff.org, the Cystic Fibrosis Foundation's website. Genetic testing is not an easy thing to be dealing with when you are pregnant. take things on step at a time and definately utilize the Cystic Fibrosis Foundation for information if you need to. Definately ask questions when you see the genetic counselor. My daughter was prenatally diagnosed with CF in a similar manner as you are describing. She is now almost 3 with CF. I also have a 7 year old boy with no CF and not either of our mutations.

Rebecca

 

[Emily65Roses]

If your first son has been being treated for acute asthma, and now your pregnancy child has a blockage, the chances of CF are likely. The percentages with meconium ileus (that would be the blockage) are kind of funny. Only 10% of CFers have that blockage at birth. But a much bigger percent (90 or something) of children that have the blockage have CF. Does that make sense? You can easily carry the CF gene and not know because there are thousands of mutations, and only the 80-some-odd most common are covered in the main test.

I say get your son tested, maybe his father's mutation is more common, and that might help you come along with finding your mutation as well. If they find one mutation and your child shows symptoms, they may cover the more extensive (and expensive) gene test to find yours. And you will hear this from someone else, I guarantee it. Whatever you do, make sure you get sweat testing, genetic blood testing (whatever you get done!) done at a CF accredited center. Regular doctors can be very smart, but because CF isn't very common, most don't know more than the average stats in a biology book. And those are often very misleading. Also, unless it's a CF trained doc, they don't know how to properly administer or read the results of the sweat test (if you go that route). So if you want accurate testing, and up-to-date information, make sure to go to a CF center.

I'd say given your son's asthma and the blockage in your pregnancy, it's very possibly your child(ren?) have CF. And if that's true, it's not the end of the world that the regular docs may have it seem. So if it comes out that way, come back here, ask more, learn more. We won't be going anywhere.

Oh and-- if your children do have CF, the sooner you find out, the better. Your son's being treated for asthma, and if he has CF, the sooner you know... the sooner you can get him the proper treatment and medications. That will go a long long long way in the future. The longer he is on the correct treatments and meds the longer he'll be in good shape. Same goes for your new baby. If you know from birth that he/she has CF too, they can start meds from birth and that will be a huge help to you and them. Think about cancer. The longer that goes undiagnosed, the further it spreads, the more extensive it gets. CF doesn't "spread" obviously, but if it goes untreated, more damage will be done. Damage that can't be un-done. So the sooner you get him on meds, the more damage you can prevent. <img src="i/expressions/rose.gif" border="0">

 

[rose4cale]

Lyssa-I remember the overwhelming emotions that I felt when the Doctor first mentioned CF to me. I was devasted and grieving before we even confirmed the illness. Unfortunately it was only by my persistance that we finally got a diagnosis after a year and a half of wondering what was wrong with my son. The Doctors felt like I was the basket case, pretty much making stuff up. Only after I found this site, did I realize the importance of having the right Doctors. I stress to you that you want to find an accredited CF center in your area. www.cff.org will help you find one. Also, have your older son tested at the CF center only.

You are fortunate to be made aware early that there may be a problem. Stick to your gut feeling about your pregnancy. If you feel like you are getting the shaft or that something isn't right with your unborn child, be loud about it. Make sure they are taking care of you in every possible way. Be calm and educated so that you can be ready for everything your child needs you to be ready for. Ask anything that comes to your mind, even if you think we've heard it a million times!

Best wishes to you and your family!

 

[daelwill]

Lyssa,

I have to agree with others... if your older son is being treated for acute asthma, it would be best to have him tested for CF. I have a friend whose son went 12 years being treated for asthma when he actually has CF and he was very sick by the time they finally diagnosed him.

It could be just asthma, but if it is CF then there are some awesome treatments out there now that really help. I know you are scared and the unknown is the absolute worst. Perhaps they can do an amnio to check the mutations of the baby. I would ask them how many mutations the lab actually tests for though... many labs only test for the 90 most common mutations and there are about 1000+... Ambry is a lab that actually does test for all known mutations. As with your older son, it may be best to test him through the DNA testing as well... especially if he is of a good weight and height (there are some mutations that do not cause problems with the pancreas and the patients are actually normal "looking" in weight and such)...

There are some really good CF clinics out there, the thing to keep in mind is you are going to have a "relationship" with this clinic for your child's life... you need to feel comfortable with them, they need to be willing to listen and communicate with you, they need to be aggressive and yet also give you the opportunity to make the decisions for your child.

I pray all goes well with your baby's delivery and her care is lined up before hand.

 

[js7881]

Hi lyssa,

I know what you are going through. I just went through the same thing in January when we discovered my daughter Alayna had an echogenice bowel (bowel blockage). If I can suggest one thing don't go to the counselors. They will make it sound A LOT worse then it really is. My daughter Alayna was born June 15, 2005. When she was bron she weighed 7lbs 5oz. SHe was in NICU for 6 days. The wanted to do the surgery to remove the bloackage but I wanted them to try other options first. I asked them to try enemas and if she didn't pass the blockage in 24 hours then we will discuss the surgery. My Alayna pulled through strong and passed it without surgery. She has been through a lot these past few months but now she is gaining weight and doing GREAT!!! Alayna has more of the digestive issues then lung and we are so thankful for that. Lyssa, please have faith and you will get through this I promise. Look for your answers here not through the doctors and counselors. We are one big family here and we need to stick together. I am involved with my local chapter and have done the GReat Strides walk and now I am hosting a Bowl For Breath to Strike Out CF. Please feel free to contact me anytime my email is js7881@wideopenwest.com. If you'd like to talk on the phone email me and I will give you my number.

Best of luck to you and your family. You are in my thoughts and prayers
<img src="i/expressions/rose.gif" border="0">

 

[js7881]

Sorry for the huge pic I have to resize

 

[CFTwins]

Congratulations on your pregnancy... and congratulations for finding this site so early in learning about Cystic Fibrosis. I have 7 month old twins, both with CF and am just finding it today. Your message made me think I better sign up. First, I have to tell you that my two little ones are TERRIFIC babies and are doing quite well today. They are funny, developmentally on track, and "healthy." I'll post a little about the story of twins' first few months below, but I want to post a few pieces of advice we learned the hard way! (a) If you have CF testing for you and your husband, be sure to ask how many genetic strains they are testing for. I tested positive during pregnancy, but my husband tested negative, so we basically forgot about CF. It turns out they only tested for the 25 strains that make up the most common 80% of genetic mutations. My husband carries a more rare form. (b) Be sure that they monitor the bowel obstruction very closely and be sure that you do kick-counts several times a day once you get further along. Since my OB didn't expect CF, the abdominal distention on our son went unnoticed even though we had LOTs of ultrasounds because of the twin pregnancy... and perhaps developed quickly. (c) I'd absolutely agree about visiting or talking with someone in a CF Center. If it's at all possible, I'd try to deliver at a hospital with a center (this happened to us... almost by accident and it was a great help to have the experts next to the NICU).

A little on our story, my twins were born at 33 weeks by c-section after their number of movements slowed down dramatically over a 24-hour period. After being shipped off to the big hosptial (U of Iowa) an ultrasound revealed a perforated bowel on our little boy and a possible perf. bowel on our little girl. Up to this point, we didn't know that they had CF. Once they were diagnosed with meconium illeus the docs treated them like they had CF, but it wasn't confirmed until a month later when the genetic tests came back. After delivery our son immediately had surgery to take care of the perf. and our daughter had surgery a week later. The CF team immediately came to talk to us and advised the neonatologists on their ventilation post-surgery and their nutrition... this was incredibly helpful. They were in the NICU two-months (but keep in mind they were two months premature). They were probably extra early because it was twins too. Since then we've learned a lot about CF... meds... therapy... etc. We've also learned that we have two great little kids and we love being parents.

I'm sorry I don't have any advice for you on genetic counseling. I have wondered A LOT, what I would have done if I had known sooner about the CF... there is only one thing I would change... I would have made them pay extra close attention to the bowel changes... so that the peforation didn't have to happen. My twins were much sicker than they needed to be, because it wasn't caught earlier. I also believe it could have developed rather quickly. They have thrived since the corrective surgeries... but they went through more than they needed too. So... I think the good news for you is that your ultrasound tech caught this!

I'm thinking of you... and your family too. I'm glad to answer more questions about my twins if you're interested. Best wishes. - Stacy (Mom of Maren and Berne, 7 months, both with CF)

 

[rose4cale]

CFTwins-Do you go to the U of Iowa for your clinic? That is where I take our son. We live in the Quad Cities.

 

[1princess]

Welcome Melissa and congrats on your baby! As you can see, this site is great - lots of people going through the same types of things you are going through and lots of helpful answers. I learned of this site several months ago when I found out that my husband and I both carry the Delta F508 mutations - of course didn't know of this when I had my daughter 3 years ago. We are actually taking her tomorrow to have a sweat test done - just for my peace of mind. She doesn't show any signs of CF, but we just need to know for sure.

I have been doing regular level 2 ultrasounds looking for the bowel problems and so far so good. (we chose not to do an amnio) I went yesterday and everything looks perfect - of course that doesn't mean she doesn't have CF - we plan on having her cord blood tested when she is born. I am just trying to be as educated as I can about CF and enjoy my pregnancy - especially since I think will be our last.

Good luck to you and your family and best wishes for a happy and healthy baby!

 

[CFTwins]

Hi Shelly,

Yes we go to UIHC. Small world! I think maybe my husband even met you at one of your visits this spring.... Beth D. set it up for us. His name is Chris. I remember Cale (that's such a nice name). I was going to try to send you a private message... but I couldn't figure out how?! Maybe we could chat more. How's Cale doing?

 

[rose4cale]

I will private message you. Go to the padlock on your screen. It will flas when the message is there and click on it, or you can email me at michelleb7265@msn.com

Beth D. is the best!