New, with a lot of questions

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Topazbutterfly

New member
Hello, my name is Jen and I am a Mom of six kids, ages 14 to 5 weeks. I found out on Thursday that my youngest son, Zach, tested positive in his newborn screening for CF ... neither Dad or I knew we were carriers. He has his sweat test on Tuesday morning at Buffalo Children's Hospital.

I have tried researching the disease online and haven't found any truly helpful websites or information. Other than being told to make a list of questions by my Pediatrician when she called to tell me that he had it, I haven't gotten any information at all from the doctor. <img src="i/expressions/face-icon-small-confused.gif" border="0">

How do I know what to look for as a danger sign? I feel so lost trying to figure this all out, and would appreciate any help or insight from you all.

Thanks so much!!<img src="i/expressions/heart.gif" border="0">
 
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Evelyn

New member
Listen to your doctor: make a list of questions because when you get there Tuesday, your mind will go out the window and you'll forget everything. And don't be afraid to ask the questions. Don't feel like you're burdening the doctor.

In the meantime, go to www.cff.org which is the Cystic Fibrosis Foundation website. There is a lot of information there! And I'm sure you're receive a lot of information at your visit on Tuesday.

My daughter tested positive at the age of 4, so I'm not sure what clear signs would be for an infant. My daughter had a salty taste to her sweat and that's what clued us in to something being wrong.

Think positive and good luck on Tuesday!
 
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anonymous

New member
Often times at that early of an age, some symptoms would be a failure to gain weight and difficulty digesting food (loose or runny stools), which is kind of the same thing as no weight gain-- I guess I was redundant there.
If he truly has CF, an early diagnosis is a very good thing. They can treat him for CF and not mistake it for allergies/asthma, intestional virus, etc.
Does he taste salty compared to the other children when you kiss him? That can also be a sign of CF.
Let us know how your appt went & don't hesitate to ask questions here.
 
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anonymous

New member
One other thing, since you have 5 other children, assuming all 6 children have the same father, they all need to be sweat tested. (Not trying to offend at all so please do not take it as such, it's just that for each child, if both parents are carriers there is a 1 in 4 chance that EACH child will have the disease; therefore, if all 6 children have the same father, all 6 children should be tested.) The sweat test is a relatively painless, non-invasive although lengthy test. The hardest part for my children was sitting still for the 5 minutes while the electrical current was applied. Good luck!!
 
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anonymous

New member
Did your son test positive for CF, or did he have a positive screening? There is a difference. There is a lot of info if you search "Newborn Screen Positive" on this family board. The problem arises in that Newborn Screening tests do not test for all 1000 identifiable CF mutations. They only test for the most common mutations. Therefore, "Screen positive" babies are those who have at least one mutation identified, OR those whose IRT is in the top .2% of results without identifiable mutations. These babies are often sent for a sweat test to confirm if they really test positive for CF. Since they could result to just be a carrier.

Babies whose screening does result with two identifiable mutations consistent w/CF diagnosis are often referred to a CF clinic. Did your doctor tell you if they identified two mutations? If not, your son could still result to be a CF carrier.

If this is the end result, you may still want to get carrier testing for yourself and your husband and a sweat test for all your children.
Good luck to you and please let us know how the sweat test turned out.

Maria (mother of three daughters, the youngest Samantha w/CF)
 
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anonymous

New member
I have read somewhere that only 5% of babies retested after the CF newborn test actually have CF. So there is a good chance that your baby is just a carrier or has a regular high salt content. Either way the sweat test will provide all of your answers.
 
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Topazbutterfly

New member
No offense taken at all ... 4 of the 6 have the same Dad, the other 2 are from another relationship. From what I found out today, he tested positive for one mutation on the screen, 394DELTT. From what I have found out, this is from the area that my ancestors came from (so we are *guessing* that this mutation came from me), and we now know that Dad's sister is a carrier as well, thus, at least in our minds raising the chances that he is too a carrier. New York screens for 34 different mutations.

He isn't gaining weight nearly as quickly/well as the other kids did, and he seems very tired. I have to wake him up to eat ... otherwise, he is perfectly content to sleep for hours on end. He has some poop issues. It smells absolutely horrid. I am not sure if he tastes saltier, but he kind of smells "different" than the other kids. The freshly washed baby smell doesn't last nearly as long for him. Does that make sense?

We have the sweat test tomorrow (today?) morning, and they are doing a blood work up as well.
 
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wuffles

New member
Difficulty gaining weight and smelly/oily stools are definitely recognised as early symptoms of CF, because they often cannot digest their food properly. I tested positive on newborn screening and later on a sweat test, and those were the main symptoms I was exhibiting as well [no lung issues at that stage].

In saying that, though, many people insist that people who are only carriers can experience some of the symtpoms of CF although they don't actually have the disease.

Good luck, I hope everything goes well <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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