22 weeks Pregnant and amnio confirmed CF

[Smilelee]

Mummy09
I am so glad to have found someone else with the same mutations. I haven't been able to find much information regarding the N1303K mutation, but the amnio results are clear DeltaF508 and N1303K. I have contacted the closest Pediatric Pulmonary clinic and they are going to schedule us a consultation to give us as much information as possible before he is born. Reading your post is definitely encouraging, your daughter sounds like she is doing very well. We have a trampoline already for our daughter, so it sounds like our son will get good use of it as well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I look forward to keeping in touch and sharing experiences!!
Lee Ann

 

[Smilelee]

Mummy09
<br />I am so glad to have found someone else with the same mutations. I haven't been able to find much information regarding the N1303K mutation, but the amnio results are clear DeltaF508 and N1303K. I have contacted the closest Pediatric Pulmonary clinic and they are going to schedule us a consultation to give us as much information as possible before he is born. Reading your post is definitely encouraging, your daughter sounds like she is doing very well. We have a trampoline already for our daughter, so it sounds like our son will get good use of it as well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I look forward to keeping in touch and sharing experiences!!
<br />Lee Ann

 

[AhopefulMommy]

Just thought I would reply here.... I am23 weeks pregnant with a boy with the same mutations. Is there a way to follow one another's threads? How is your baby boy doing? Please share any advice!

 

[AhopefulMommy]

Just thought I would reply here.... I am23 weeks pregnant with a boy with the same mutations. Is there a way to follow one another's threads? How is your baby boy doing? Please share any advice!

 

[AleksandraKaczynska]

hi, I also think that I would have been better off if I had known before birth about Asia's cf. she cried for 4 days nonstop while in hospital cause she had trouble with her first poop. It was very thick - like tar - but it came out. We found out through screening she had cf 3 weeks later.
Although the dignosis was confirmed a month after birth.
The memory still haunst me that if I had know she would have gotten better help in hospital in the first few days. I let the doctor know something was wrong - but I was a first time mom and didn't know how the first poop should look like and so I didn't think it important to let know . Only a second mom sharing the room with me said she thinks it does not look normal (it woouldn't wash off at all) - it was her 3-rd child and I think I should have listened better.
Like nancy wrote - get to know your cf team and get best hospital - perhaps with a cf center - for birth.
You'll do just fin you'll get a better start then those moms like me - who didn't know anything about cf at all.

 

[AleksandraKaczynska]

hi, I also think that I would have been better off if I had known before birth about Asia's cf. she cried for 4 days nonstop while in hospital cause she had trouble with her first poop. It was very thick - like tar - but it came out. We found out through screening she had cf 3 weeks later.
Although the dignosis was confirmed a month after birth.
The memory still haunst me that if I had know she would have gotten better help in hospital in the first few days. I let the doctor know something was wrong - but I was a first time mom and didn't know how the first poop should look like and so I didn't think it important to let know . Only a second mom sharing the room with me said she thinks it does not look normal (it woouldn't wash off at all) - it was her 3-rd child and I think I should have listened better.
Like nancy wrote - get to know your cf team and get best hospital - perhaps with a cf center - for birth.
You'll do just fin you'll get a better start then those moms like me - who didn't know anything about cf at all.

 

[cheygemini]

My daughter Cheyenne is 6 and has the same mutations (DF508/N1303k).
No CFer is the same, but just to give you some info on Chey- she goes to public school (1st grade). She is pancreatic insufficient and takes enzymes.No asthma, diabetes etc... So far just lung issues when she gets a cold.
She plays soccer, basketball, ballet... She is pretty healthy. Her baseline is no cough, with no lung symptoms.
Daily she inhales albuterol, hypertonic saline and Pulmozyme and does her Vest 2-3 times per day.
She takes Zegerid for mild heartburn. It really helps. She used to throw up at night sometimesbefore she was on it, especially if she was not sleeping propped up.
Her lung cultures are MRSA and Serratia. No pseudomonas (cultured it once and got rid of it with TOBI).
It is always overwhelming at first. It takes a while. Hang in there and believe- there is so much possible!!! I amcompletely blessed to have Cheyenne. She is my greatest teacher.
Manyblessings for you and your baby.
-Willow, No. California

 

[cheygemini]

My daughter Cheyenne is 6 and has the same mutations (DF508/N1303k).
No CFer is the same, but just to give you some info on Chey- she goes to public school (1st grade). She is pancreatic insufficient and takes enzymes.No asthma, diabetes etc... So far just lung issues when she gets a cold.
She plays soccer, basketball, ballet... She is pretty healthy. Her baseline is no cough, with no lung symptoms.
Daily she inhales albuterol, hypertonic saline and Pulmozyme and does her Vest 2-3 times per day.
She takes Zegerid for mild heartburn. It really helps. She used to throw up at night sometimesbefore she was on it, especially if she was not sleeping propped up.
Her lung cultures are MRSA and Serratia. No pseudomonas (cultured it once and got rid of it with TOBI).
It is always overwhelming at first. It takes a while. Hang in there and believe- there is so much possible!!! I amcompletely blessed to have Cheyenne. She is my greatest teacher.
Manyblessings for you and your baby.
-Willow, No. California

 

[cfgf28]

My bf has the same mutations, Df508 and N1303k, and he's going to be 29 next month!! He has had very mild lung issues, but is def pancreatic insufficient, which is what led to his diagnosis as a baby. He also does the vest hypertonic pulmozyme, and Tobi every other month, though he hasnt cultured PA in a long time. he takes prilosec for heartburn too...

 

[cfgf28]

My bf has the same mutations, Df508 and N1303k, and he's going to be 29 next month!! He has had very mild lung issues, but is def pancreatic insufficient, which is what led to his diagnosis as a baby. He also does the vest hypertonic pulmozyme, and Tobi every other month, though he hasnt cultured PA in a long time. he takes prilosec for heartburn too...

 

[healthypeanut]

We found out 10 days after our daughter was born that she has CF. Like others have said, I had a wide range of emotions, namely why wasnt I tested when I was pregnant, etc. It's good and bad that you know in advance. Let's you prepare but also lets you worry! The most important thing for me to realize is that no matter how mad I am or how hurt or sad or hopelesss I feel, it is nothing compared to what my little one will need to go through every day for the rest of her life. So I did a lot of reading to see the best/worst case scenarios are for her, and I am staying positive. She's on vitamins, enzymes with meals and we do chest pt once a day. She likes the applesauce with the enzymes very much. I found that it is easier to put the vitamin liquid on a spoon instead of using the eyedropper-like thing that came with the bottle. Shes a DDf508. A very happy little newborn who is very active and enjoys eating which is good<img src="i/expressions/face-icon-small-smile.gif" border="0"> I would suggest researching good CF centers in your neighborhood. Ours is great and they have been so supportive and helpful.

 

[Printer]

LeeAnn:

I'm 72 years of age, I have CF and we will be celebrating our 50th Wedding Anniversary later this year.

Bill