7-month baby being tested for CF

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anonymous

New member
My sister's baby is being tested for CF, next month. I don't know why the appt. is so far away, but it is. Here are here baby's symptoms:

1. Failure to thrive (he was 9lbs when he was born, he is 14 lbs now at 7 months)
2. Spits up ALL the time
3. hydrocele (fluid in the testicles)
4. undescended testicles
5. possible hernia
6. soft spot seems to have closed early (getting a CT scan for this)
7. Seems to be "snotty" all the time
8. When I fed him his bottle, he seemed hungry, but then cried out like he was in pain

I'm not sure if this is every symptom. He had his thyroid checked (first abnormal, hyperthyroid, then normal), he is having an upper GI done today, he is having a CT scan done today, then the CF test next month.
My sister has 3 children. The oldest is 3 1/2 and has no problems. The middle child (they are all boys) has severe allergies and has a runny nose ALL the time. He is also developmentally delayed. Her youngest has all these problems and we're concerned for him. Just this morning, she told me that the baby hadn't had a wet diaper in 12 hours.
But, she did the "lick" test and said the baby didn't taste salty. So, she's convinced that it's not CF. I know that I was screened for CF when I was pregnant and I am not a carrier. But I guess she could still be.
sorry this is so long, I just don't know what to think,
Thanks,
Gina
 
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anonymous

New member
I don't want you to think negative or anything but just to let you know when they test for cf it is only for the first 30 or so mutations. There has never been known cf in any family members on either side of my husband's or my family's but my baby born this past Nov. was diagnosed through the N.Y. newborn bloodscreen. She had a sweat test that was positive but they could not find the second mutation until they did full DNA testing under my request and 2 months later found it. It is so rare that right now there has only been one known male on the registration with this mutation.Hopefully everything works out. please let us know.
Katina
 
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rose4cale

New member
Hi Gina. I'm not sure about a lot of the symptoms you listed. I'm sure some of the users on this board will be able to help you with some of them. I can tell you what our experience was. They may be doing the CF testing to 'rule it out'. My son had a failure to thrive. Just 15 pounds at 18 months old. He also had a lot of reflux, which is quite common with CF. His bottles and food literally went right through him so we had/have an extreme amount of diapers. There wasn't a diaper that could contain his stools through the night. A lot of runny noses. He tastes salty when he is warm or sweaty, but not all are salty tasting.




Being developmentally delayed is not a CF symptom. In fact, my son seems wise beyond his years. He is 2 and speaks as well as a 6 year old. It does sound like there is reason for concern with many of the symptoms, be it CF or something else.
 
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anonymous

New member
Thanks for the replies! I know that some of the symptoms in my sister's children do not fit with CF (like the developmental delay), but I wanted to list as many of the symptoms as possible because they have so many issues, that a nurse-friend of mine suggested that her children should have genetic testing done. My mother said she suspected CF when she was holding the baby last week, a few days before the Dr. mentioned doing the testing. I thought that was interesting because it had never occured to me. I'm just worried about her baby and hoping that he is going to be ok. The failure to thrive thing is what is worrying me the most. He was born in the 90th percentile and now is in the 0th percentile. That's scary!
 
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rose4cale

New member
Just know that IF it is CF, the therapies and medications have come so far. My son was -0% percentile and since his diagnosis and treatments, his weight is up in the 50th percentile. He is a different child! As you may read on here, please make sure he is tested at an accredited CF center which you can find on www.cff.org There is a difference in a regular hospital and a CF center. A regular hospital told me that my son was going through a phase, the CF center was able to diagnose him.

Keep us posted!
 
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anonymous

New member
Unless you know both parents are carriers before you have a child you never expect it. We had some obvious signs with our daughter but never thought to know it was CF. The runny nose, eating us out of a house and not growing as well as those full diapers 5-6 times a day. Some things you may want to do is the floating poopie test (see if the childs poop floats in the toilet). If so then the child is not abosorbing the fat and the nutrients and it is going into the stool (possible CF if this happens). Avery has been treated for a little over 2 months now and as gained about 4 lbs. and got about an inch in height. Not much but a start, from where we were. The outlook is so promising!!!!!!!!!


Chuck father to Avery 21-months w/cf, and Rhett 3-months carrier
 
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anonymous

New member
Katina,
Do you mind sharing the mutation with all of us. My daughter has L998F and so far only has one mutation found so far but does have CF, 2 sweat tests positive. Thanks, Joan
 
A

anonymous

New member
Just to let you know....my nephew's upper GI came back normal. And we're still waiting on his CT scan results. He won't be tested for CF until 6/9/05.

Thanks to all of you who replied; I'll keep you updated on his test results.

Gina
 
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tigger

New member
i hope hes alright he probely will be theres nothing to worry about
<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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