Questions about newly diagnosed baby

[Jenica]

Hello,

My husband and I just found out that our baby (due September 4) is going to be CF positive, and we are so full of questions. We've done a little bit of research on the internet, and there are some really scary statistics out there, but the posts I've read on this forum are so much more positive, which is heartening.

Our baby will have one copy of the DF508 gene and one R347P, which from what I understand is milder. But I don't know what milder means, and isn't every individual case different?

Right now we're just trying to figure out what we should expect in the coming years. We were told that this baby's infancy would not really be affected, but I'm not sure what timeframe is meant by infancy, and what "not really" affected means. We have a one year old daugher who is a carrier, but not positive herself, and I'm also wondering what this will all mean to her as far as our family life. Can anyone tell me what kind of financial implications this has on families? We have insurance, but I'm not sure what kind of equipment/medications/etc will be needed as time goes on, and what is typically covered.

So many questions ...

Anyway, I would really appreciate any information you can share with us! I've only just found this forum this morning, but I can already tell it's going to be a great source of support. Thanks, everyone.

-- Jenica

 

[anonymous]

Jenica~
Hey please feel free to email me anytime you guys have a question. I'm 23 with CF. I was diagnosed when I was 18months old. My parents were told when I was diagnosed I may not live into high school. Well as you know and probably have read things have changed dramatically since then and new research is leading to longer more fullfilling lives.
Where are you guys from/or what clinic will you be going to??
Happy to help, Good Luck
Emily
23 pwcf from Deroit
www.letsrockcf.com

 

[Jenica]

Thanks for your reply! We live outside of Boston, MA and will be going to Children's Hospital. I'm still waiting to hear back from them, but I'm hoping they have genetic counselors who can sit down with us and tell us what to expect. But from my brief conversation with the receptionist there yesterday it sounds as though they provide treatment options, but not a lot of information before the patient is admitted.

If you don't mind sharing with me, what is your typical day like? I've read several posts from people who have mentioned playing sports, traveling, leading very normal lives with the exception of morning and evening treatments, but I'm not sure what these treatments consist of. Is it always a progressive disease, with the lungs losing capacity over time? Are there problems when you over-exert yourself? Do you have sisters or brothers?

Thank you again!

Jenica

 

[JoAnn]

Hi Jenica - This is def. a great place for info. and support. Each child with cf is def. different. My son was dx. at 18mos. They did not have the prenatal screening in our state for cf at that time. He is now an energetic, happy 7 year old. If you didn't already know he had cf, you couldn't tell by watching him. Our insurance has been very good over the years even with the extra meds and equipment and services that can go with cf. We usu. pay copays with everthing. Most children with cf go to a cf clinic visit every 3 months where they are followed by a team of professionals including a pulmonologist, a respiratory therapist, a nutritionist, a social worker and a physical therapist. It will depend on if there is any respiratory and/or digestive involvement as to exactly what meds and therapies they might suggest. It can seem overwhelming. We try and concentrate on the near fulture and the questions we have so that we are informed and prepared in helping our son to have the best opportunity for health and happiness. Financially it has not been too crazy. Health insurance has been of utmost importance with a good pharmacy plan. We have a 10 year old son that is a carrier. Our family life is not overtaken by cf. Cf is a part of what we manage but it isn't who our son or family is. The dx. has made all of us who we are and in a strange way I think we are living a better family life now - we ea. appreciate every little thing. We have to take what life deals us and try and do the best we can with it. Please feel free to keep asking questions. I find the info and support here very helpful. You are very much not alone! Best wishes!

 

[JoAnn]

Hi Jenica - just thought of something else. When my son was first dx., I contacted the local CF chapter and they connected me with some other Mom's who were able to call me. It was great to talk to other mom's in the local area who had already recently gone through what we were starting. Hope some of this helps!

 

[Jenica]

Thank you, JoAnn.

I just sent an email to our local CF chapter, and it sounds like they will be able to get me in touch with other parents.

 

[NoDayButToday]

Hi Jenica, you have definitely come to a supportive place!

In terms of mildness/severity, each case is so different-- even in families with more than one CF child, the cases vary a ton! Some mutations are known to be 'milder' but that is not a guarantee that a case WILL be mild. You sort of learn as you go what your child's case will be like.
Since it is a progressive disease, at birth, there is no lung damage. Because of this, if treatments begin immediately (as they will for your little one) infancy can be a pretty mild time in terms of lung involvement, and can stay that way. This doesn't mean that all babies do not have lung problems; some do. 10% of CF babies are born with an intestinal blockage called meconium illeus, which is corrected with surgery. It isn't indicative of the severity of the baby's CF. I myself had successful surgery for a blockage and came home in good health. Your baby will likely do nebulizers as a more preventative measure, and depending on her pancreatic sufficiency, may or may not need digestive enzymes.
Your one year old won't have any health problems due to being a carrier. I'd imagine she would respond emotionally in the same way any youngster who suddenly has another baby in the house would respond. As for the entire family, it will have a tremendous emotional affect, some positive, sometimes negative. The CF centers have social workers who are always availible for you to talk to. They also can act as insurance liasons to help with those matters as well.
It's great that you have insurance, because with CF comes medications. My meds are basically covered by insurance, but we still have copays of around $500 a month. Nebulizer machines required for daily treatments are covered I believe (I just got a new one, and don't THINK we paid out of pocket for it). One thing not all insurances cover is the Vest. The Vest is used for physical therapy (which can also be done by hand, or with a device like the Flutter), and is fairly expensive. Babies and younger kids can't use the Vest, though, so you don't have to worry about that right now!
My typical day begins with a bronchodilator aerosol (Xoponex or Albuterol), which opens up the airways, followed by physical therapy of some sort, the purpose of which is mucus clearance, and depending on the month, some sort of antibiotic aerosol. The antibiotic is for pseudomonas, which is a bug that affects only CFers and those with highly compromised immune systems. Some CFers culture it at 4, some at 24, some can eradicate it and not culture it for years, some are 'colonized', which means it does not go away, they can just try to manage it. I also take several pills, for reflux and allergies, multivitamins and Zithromax, which CFers take as an anti-inflammatory. Depending on how I am feeling, sometimes I do another aerosol treatment of just my bronchodilator and mucus clearance in the afternoon. The evening, I do another bronchodilator, mucus clearance, and Pulmozyme, which is a mucus thinner, making it easier to clear out, and again, depending on the month, a antibiotic. I also use a saline solution in my aerosol, which helps produce a cough. I also use various inhalers, and take enzymes with every meal. I have a feeding tube, which gives me extra nutrients overnight and is helpful when I don't have an appetite. When my lungs get worse, I have trouble maintaining weight. I know it sounds like a lot, but in between these things I have a VERY VERY full life. I'd post everything I participate in, but I did a few posts ago, and it was fairly long. <img src="i/expressions/face-icon-small-smile.gif" border="0">
CF is a progressive disease, but the progression can be slowed by treatments. This doesn't mean that the treatments stop progression, but CF would progress faster without them. Overexertion can cause shortness of breath and coughing fits, but most patients know their own limits and stay within those parameters.
Good luck! Do you have any names yet? Do you know if its a little girl or boy? I'm so glad you found us here! <img src="i/expressions/heart.gif" border="0">

 

[Jenica]

Thanks, Coll, for all of your very helpful answers. It sounds like you're really living life to it's fullest, and you sound busier than most 15 year olds I know!

I have another question for you if you don't mind ... Do you have to be very careful in exposing yourself to possible germs/bugs? I know the flu shot is given to all CF patients, but do you have to be extra cautious in staying away from people who might be sick? Does this affect you in school at all? It doesn't seem like it from this post and others that I've read of yours, but I talked to a woman from our local CF Foundation and she mentioned that CF people generally do not see other CF people because of the possibility of transfering bugs.

I mentioned before about having a one year old, and although she's been a very healthy baby, little ones are magnets for bugs. We have another couple years before this will be an issue, but I know pre-schools are like breeding grounds for sicknesses. Are there extra precautions we should take in making sure she doesn't bring home anything to her little sister?

Thanks again, and have a great weekend!

Oh, and we just found out last night that this new baby will be another little girl. Very exciting!

 

[anonymous]

Hi Jenica,
I'm pregnant and due September 5th. My husband and I are both carriers of the CF gene and my 11 y o step-son has CF. I have an amnio scheduled for March 22nd and I'm very nervous. How did you find out your baby will have CF? Did you have the amnio or the CVS done? Do you know the babies gender? Did you have the level II u/s? Were they able to determine anything with the u/s?
Sorry for all the questions, I'm just a mess right now.
Jen

 

[Jenica]

Hi, Jen --

We had a CVS done for my one year old daughter (who is a carrier) and this little baby. Last time I had the CVS at 12.5 weeks and got the results back two weeks later. This time the lab sent the results back in three days, so it was a very quick turnaround. Not exactly the news we were hoping for, but we did want to have some time to plan and learn about CF if the results did come back positive.

I know how you feel, anxious and nervous, but I think the thing that I kept coming back to was that there must be a reason for it. I've read so many very uplifting posts on this site. One person (I can't remember who), talked about the people that she's met, the experiences she's had, and how she and her family can appreciate life in a totally different way. Not that it makes it positive news or anything, but I can't tell you what an enormous relief it was to read about people who are living happy lives, just with CF. And try not to get too worked up beforehand, because there is still a 3 out of 4 chance that your baby will not have it. 25% seems like a big chance, and it is, but the odds are still working in your favor.

I really hope it turns out okay for you, and feel free to email me anytime. (mailho@comcast.net)

-- Jenica

 

[Jenica]

I just realized I didnt' really answer your questions about the ultrasound ...

Anyway, I had just one major ultrasound to pinpoint exactly how far along I was for the CVS. I have another one scheduled in three weeks, but it will be the normal one that everyone gets around the 18 week mark. I didn't even realize that you could determine anything about CF with an ultrasound.

 

[jenniferp]

Hi Jenica,
I have been reading entirely too much about CF, my husband insists I stay off the internet and stop driving myself nuts. I read on here and a few other places about the possibility of detecting meconium ilus (sp?) early through u/s. Something called Foetal Echogenic Bowel. This has been discovered through u/s and babies have later been tested and diagnosed with CF. I was just curious if you had an u/s and it was detected or not. But I've read your response and understand you haven't done that yet. They say that 90% of babies born with meconium ilus have CF but I think that is debatable.
What made you test for CF? Is someone effected by it in your family?

 

[jenniferp]

BTW, I also have a daughter, she is 3 and she was also determined to be a carrier of my husbands mutation which is the DF508. I am a carrier of the G551D.

 

[2sickkids]

It's good you know about the CF before hand. That will help alot. I have a 27mo and a almost 7mo they both have CF. Not knowing what was going on with my older son was nerve racking by the time we found out it was CF I was relived to have an answer. We started my youngest son on meds at birth.

 

[Jenica]

I had the test done as part of a whole roundup of tests before I became pregnant. Then when it came back positive, my husband was tested. No one in mine or my husband's family is affected, so we were both very surprised until we learned how it is a recessive gene. My little sister (half-sister who is turning six this month) has a lot of respitory issues, but they haven't been serious. She is very prone to bronchial infections, coughs, and uses a nebulizer frequently. I'm sure that she is fine, but I'm trying to get my mom to get her tested just to make sure. Peace of mind I suppose.

Anyway, to the mother of the two little ones, has it helped a lot for your younger son that he was diagnosed and treated right away from birth? We were told our baby will have a normal infancy and symptons won't begin to manifest until she is older. I don't know if that means she won't receive (or need) any treatment right away. I'm still waiting from Children's Hospital to call us back and hopefully set up an appointment for us.

Jen, how is your step son?

 

[anonymous]

Jenica,
My step-son, Cameron is doing really good. When he was born he had Meconim Ilus and had to have emergency surgery and was transported via helicopter to the Medical University of South Carolina where they removed part of his intestines. He finally passed his bowel 3 days later and was able to come home. My husband and his ex-wife were unaware of his condition until he was born. My husband says it was very stressful because Cameron was very cranky and had alot of stomach problems through infantcy. His ex-wife had to leave school to be with him full time. He has been hospitalized 3 times, the last time about one year ago. However, he has been really great inbetween hospital stays and the last time was more of a preventative measure than anything else. When he stays with us he is just as active as my 11 year old Zachary. They are best of friends and really enjoy playing baseball together (My husband always coaches the team). In away I'm kinda relieved by the thought that if this baby does have CF at least he/she will have Cameron to understand him/her and they can share there thoughts and feelings.
Jen

 

[anonymous]

I would also suggest you look into the program at Mass General. That is where we receive our treatment and they are fabulous. Children's is great too (we interviewed both when we found out our son was to be born with CF at 19 weeks.). I just wanted to point out that MGH has an excellent program as well....

 

[anonymous]

Hi Jenica and Jennifer,

Please feel free to email me with any questions you might have. Sometimes it helps to talk with others in the same situation. <img src="i/expressions/face-icon-small-smile.gif" border="0"> My son with cf will turn 5 this month and he is doing just great! It really helped me to speak with someone POSTIVE and upbeat about the disease. As far as Jennifer's comment goes, I wanted to add that I sort of drove myself crazy researching cf on the internet. To be honest, there are so many things posted and so many web sites that only talk about the most difficult parts of cf. I think we need to focus more on the positive and how many positive networks cf research has!

Jenica, financially, cf can be an expensive disease. A lot will depend on your insurance plan and if you qualify for any assitance as far as medications or hospitalizations go. For us, the medication for my son can sometimes be difficult because our Rx plan only covers 50% of his meds. These are meds that have no generic substitutes (like Pulmozyme), so this can get really pricey! We'll be on a new Rx plan soon. Now might be the time to make sure you're plan covers the meds you'll need, clinic visits, etc. Have you contacted your cf clinic already? They might be able to tell you which direction to go on this.

I empathize with both of you. My point is, cf has come SO FAR. Researchers, experts, and the cf foundation are doing so many great things. My husband is in the medical field and catches up on the latest research whenever he gets the chance. We both honestly have so much hope for our son's future. Keep your chins up. Things really will be ok. Feel free to email me any time!

Carey
Bono40@aol.com

 

[Jenica]

How did you decide on which CF clinic to see? The hospital where we had our CVS performed referred us to Children's, but when I talked to the local CFF chapter, she mentioned the program at MGH and said they're wonderful. I asked if they recommended one place over another (not expecting that they really could) and she said no, but she did mention one doctor at MGH in particular, Dr. Dorkin (sp?). I couldn't tell if that was her silent recommendation or not.

To the person who responded about MGH, you were able to interview both places? Were you able to talk to doctors at each place, see the facilites, etc? At this point, I wouldn't even begin to know what to ask, but I would like to talk to different doctors because sometimes you just click better with one than another. Do you like your dr? I'm assuming you must since you're recommending the facility ... Do you mind saying which doctor you see for your son?

Carey, how many prescriptions do you fill per month? Our medical plan has the three-tiered rx, the price ranging between $5 and $25, so the quantity we needed would probably be the big cost factor for us.

As far as driving yourself crazy researching info online and becoming consumed by it, I am definitely prone to that. My sister-in-law, who is just wonderful, said something yesterday that I really appreciated though, and that was that no one should lose sight of the fact that we're going to have a beautiful baby born. And that by itself is such a wonderful thing.

Jenica

 

[NoDayButToday]

Jenica,
Yes, you have to be careful within reason. I always get the flu shot and all immunizations, and if a friend is sick, I don't get close with them. But as far as school goes, I attend unless I am sick. If I was out everytime there was a bug going around as a precautionary thing, I'd probably never be in school. I feel like I get colds less than the average person, its just that when I do, I wind up sicker. Just exercising reasonable caution is what I go by.
As far as seeing other CFers in person, the CF Foundation discourages it. But in my opinion, it is a personal choice. My family chose that we were NOT going to live that way, and I was very very close friends with CFers when I was younger. If a got a bug sooner or what have you from it, so be it. Those relationships were and are important to me. It's a choice every family must make, and my family decided that we were not going to shun someone because of something they cultured. Some families choose to isolate themselves from other CFers (in person); it is a personal choice.