I have a newborn (2 week) old son. On his newborn screening, it came back that his IRT levels were high and that he is a carrier of the delta f508. His pediatrician recommended a sweat test, which came back inconclusive because he didn't sweat enough and we have to try again next month. He does not show any of the symptoms of a CF child. Great bowels, non salty skin, and pretty much in excellent health. I am still terrified though. my question is this- how were your children diagnosed, and did they have any symptoms? The technician giving the sweat test said the fact he didn't sweat was a good sign, but I still can't help worrying all the time now and I don't know if she said that just to make me feel better. Thanks, Cindy
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
When/how was your child diagnosed?
- Thread starter anonymous
- Start date
Why don't they just do bloodwork to find out for sure? My husband and I found out during this pregnancy that we both carry the Delta F508 mutations and our baby is going to have her cord blood tested as soon as she is born. Her ultrasounds look clear so far and we choose not to do an amnio so we will just wait and find out when she is born.
We just did a sweat test on my 3 year old because she shows absolutely no signs of CF and the docs said that she would have shown signs by now with those mutations so I feel pretty confident that the sweat test was accurate when it came back negative for CF. I am surprised they would do a sweat test on a baby so young because I seriously RAN and JUMPED for almost 45 minutes to try to get my 3 year old to sweat enough and she barely had enough sweat for the test! I know I was definitely sweating and exhausted!
Good luck with your little baby! I am sure you will get some good advice/comments from the people on this board.
We just did a sweat test on my 3 year old because she shows absolutely no signs of CF and the docs said that she would have shown signs by now with those mutations so I feel pretty confident that the sweat test was accurate when it came back negative for CF. I am surprised they would do a sweat test on a baby so young because I seriously RAN and JUMPED for almost 45 minutes to try to get my 3 year old to sweat enough and she barely had enough sweat for the test! I know I was definitely sweating and exhausted!
Good luck with your little baby! I am sure you will get some good advice/comments from the people on this board.
I think doing the genetic bloodwork for CF on the baby is a good idea as well. Are you and your husband a carrier for the CF mutation? You both need to be carriers to pass it on to your baby. If you do get the CF carrier bloodwork done make sure they screen for all the mutations they can. My daughter was diagnosed before she was ever born via genetic testing from an amnio. She was born with a meconium ileus ( a complication of CF) .
Congratulations on your new baby and hopefully he is just a carrier.
Rebecca(mom to sammy 7 no CF and Maggie almost 3 with CF)
Congratulations on your new baby and hopefully he is just a carrier.
Rebecca(mom to sammy 7 no CF and Maggie almost 3 with CF)
The technician who gave you that information about "the fact that he didn't sweat was a good sign" is, I am sorry; an IDIOT! What a way to give someone a false sense of hope. THe fact is, that most children under 6 months, CF or not, have a difficult time producing sweat at all and many are falsley diagnosed because of technicians saying such things.
I would highly recommend that you have your child tested via bloodwork. I refreshed a topic in the adult section: <a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194">http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194</a> about good companies for mutation testing. A "regular" hospital will send their CF blood tests to a laboratory that tests only for 25-80 of the most common mutations, out of over 1000 KNOWN mutations. That's great if your child is a carrier of a common mutation, not so great if they carry a rare mutation, which is acutally more common than not (confused yet????)
All in all, your child could be just a carrier and that's definately what we all hope for but you really need to explore all avenues first. Hopefully this will give you some areas of where to start. Please don't ever hesitate to ask us questions, and welcome to the site.
I would highly recommend that you have your child tested via bloodwork. I refreshed a topic in the adult section: <a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194">http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194</a> about good companies for mutation testing. A "regular" hospital will send their CF blood tests to a laboratory that tests only for 25-80 of the most common mutations, out of over 1000 KNOWN mutations. That's great if your child is a carrier of a common mutation, not so great if they carry a rare mutation, which is acutally more common than not (confused yet????)
All in all, your child could be just a carrier and that's definately what we all hope for but you really need to explore all avenues first. Hopefully this will give you some areas of where to start. Please don't ever hesitate to ask us questions, and welcome to the site.
Hailey was diagnosed at 2 weeks through many tests. Her IRT's were through the roof on the newborn screen(anything above 100 says possible cf hers was over 500). They did a sweat test at 19 days which came back at 120. She did have very salty skin but I didn't really notice other symptoms. She didn't have a big weight gain like my other girls did after birth. She was still at her birth weight at 2 weeks. After she was diagnosed her weight just shot up real quick. Then they did the blood test to find the genes. One of her mutations is not too common and the other is extremely rare occuring in less than 1% of patients.
Hailey did get enough sweat when they did hers which is rare. They lady that did the test said that most newborns are hard to get to sweat because their glands aren't fully developed yet. All she does is cf testing and has been doing it for 12 years so I kind of trust what she says.
Like the previous posters said not all companies test for a buch of mutations. My sister is pregnant and they tested her but didn't check for the ones my daughter has. If I was tested during pregnancy I would have figured she would be a healthy baby at birth. My sis had to have more blood work done so that they could look for more mutations.
Sorry to ramble for so long it has been a long day.
Just let us know how everything goes. Try not to tear yourself up while you wait for more tests.
Hailey did get enough sweat when they did hers which is rare. They lady that did the test said that most newborns are hard to get to sweat because their glands aren't fully developed yet. All she does is cf testing and has been doing it for 12 years so I kind of trust what she says.
Like the previous posters said not all companies test for a buch of mutations. My sister is pregnant and they tested her but didn't check for the ones my daughter has. If I was tested during pregnancy I would have figured she would be a healthy baby at birth. My sis had to have more blood work done so that they could look for more mutations.
Sorry to ramble for so long it has been a long day.
Just let us know how everything goes. Try not to tear yourself up while you wait for more tests.
<blockquote>Quote<br><hr><i>Originally posted by: <b>julie</b></i><br>The technician who gave you that information about "the fact that he didn't sweat was a good sign" is, I am sorry; an IDIOT! What a way to give someone a false sense of hope. THe fact is, that most children under 6 months, CF or not, have a difficult time producing sweat at all and many are falsley diagnosed because of technicians saying such things.
I agree, my daughter had her sweat test and we were sent home we then had a phone call and the doctor saying they didn't collect enough sweat so it's come back inconclusive, and we had to go back in for another test which confirmed she had cf.
Good luck Mum to Chelsie 5 w/cf
I agree, my daughter had her sweat test and we were sent home we then had a phone call and the doctor saying they didn't collect enough sweat so it's come back inconclusive, and we had to go back in for another test which confirmed she had cf.
Good luck Mum to Chelsie 5 w/cf
helpusfindacure4cf
New member
Sorry forgot to sign in that's me above.
Emma.xx
Emma.xx
I
IG
Guest
<blockquote>Quote<br><hr>We just did a sweat test on my 3 year old because she shows absolutely no signs of CF and the docs said that she would have shown signs by now with those mutations<hr></blockquote>
Actually it's very unpredictable, the genetic mutation is *thought* to have some relevance to the symptoms but it's not a for sure thing.
I have a double delta F508, showed no signs of the disease, and wasn't diagnosed until I was six.
Actually it's very unpredictable, the genetic mutation is *thought* to have some relevance to the symptoms but it's not a for sure thing.
I have a double delta F508, showed no signs of the disease, and wasn't diagnosed until I was six.
Was the technician from an accredited CF center? Our first tech was at a regular hospital and told us that in like 15 years she has only seen one positive test for CF. My guess is that she does it wrong!! Like Julie said, we lived on false hope though my guts were telling me the whole time he had it. When we finally made it to a CF center they tried the sweat test on our son numerous times and all times it was also inconclusive. SO they did the genetic test and it came back positive. When Cale was very young, he didn't symptoms either. But as he grew and took on solid foods, it was more obvious by his HUGE appetite and number of diapers. He was finally diagnosed at 18 months after a year of my pursuing many doctors for answers.
Like the others have suggested, the genetic test in my eyes is the only sure way for a diagnosis.
Congtratulations on your newborn!! They are such a blessing. Don't let this put a damper on your new bundle. Enjoy him!!!
Like the others have suggested, the genetic test in my eyes is the only sure way for a diagnosis.
Congtratulations on your newborn!! They are such a blessing. Don't let this put a damper on your new bundle. Enjoy him!!!
My son was also picked up by the newborn screening and also did not sweat enough at his first sweat test. I waited until he was 3 or 4 months old before sweat testing him again. Unfortuatly, he came back with a positive sweat test. The Cf center then did a blood test to find the second gene. It wasn't very popular but nevertheless it was there. He is now 3yrs old and is considered a mild case if there is such a thing. He hasn't shown any signs of the disease as of now. His pancreas still is functioning and we just see Dr.'s on routine checks every 3 mo. I do cpt three times a week as recommended and he has seemed to have 1 cold a year that requires an antibiotic due to a cough lasting more than 4 days. Otherwise very healthy so far. Thank GOD. Good luck. Chris
lovingBenandCambree
New member
My drs. said that you shouldn't even do a sweat test on someone until they are at least 3 months. We did a blood test on my daughter and she is definitley a carrier but did not have CF.
Emilee
Emilee
My daugher wasn't diagnosed until she was 19 months old. We had no clue that either of us were carriers (no family hx on either side). Whenever she got sick, it seemed she stayed sick for 3 weeks or more, got well for about a week, and got sick again. Each time it went to her lungs, and she coughed a TON. Like Cale, she started having more bm diapers when she started on more solid food, and didn't gain weight. She didn't taste salty until around 1 year old. She also had reflux from day one. We were going to do a sweat test, but the center couldn't get her in for 3 months, so we did the blood test. She has 2 copies of Delta F508. As soon as my Mom & I read the symptoms, we knew she had CF.
Good luck. Even if he does have cf, it's not the end of the world. Look how far medicine has come in the past 20 years!
Good luck. Even if he does have cf, it's not the end of the world. Look how far medicine has come in the past 20 years!
My daughter showed no signs until 12 months of age. This is common. Not to let you down but not showing symptoms at the age of 2wks. probably doesn't mean much. You can do one of three things to find out if your son has CF
1. Wait until your son is atleast 6 months and redo the sweat test
2. Get an appointment to do the bloodwork for the genetic test (which can be done now, but is usually expensive, some insurances pay for it and some don't)
3. Wait to see if he shows signs till you do anything, but remember many babies don't show signs until 12months or older
Good luck and remember the odds are for you not against you that he doesn't have CF.
1. Wait until your son is atleast 6 months and redo the sweat test
2. Get an appointment to do the bloodwork for the genetic test (which can be done now, but is usually expensive, some insurances pay for it and some don't)
3. Wait to see if he shows signs till you do anything, but remember many babies don't show signs until 12months or older
Good luck and remember the odds are for you not against you that he doesn't have CF.
My son who is now 20 was diagnosed at 3 mos via sweat test. He had tracheomalasia- floppy trachea which caused a lot of problems. I took him to an ENT who readily dismissed us- he was making strange throat noises. He said if my pediatrician was satisfied with his weight gain to bring him back in six weeks. His resident asked more questions- was he premature, etc. I called his ped that day and after checking him he said he was only gaining half of what he should. He sent us to Childrens in Birmingham- they did a bronchoscopy and thought they saw an obstruction- even though that was later ruled out. We were excited because we thought at least that could be fixed. They did the sweat test because he was small but didnt think he had it because his lungs were so good. But unfortunately he was positive. I never will forget our resident coming in to tell us with tears in his eyes. I wish I knew where he was now- he is making someone a great dr. He is doing good now- working and is enrolled in the PTC124 study. I would also request the blood work so you can be sure. Thoughts and prayers to you and your little one.
M
melleemac
Guest
My boys were diagnosed when they were 3 months old with a sweat test. They had been in and out of hospital since their birth with difficulties breathing, and malsorbation, failure to thrive etc. Beore diagnosis they were also admitted with severe anemia, low protein, urinary tract infections. They were both given blood transfusions. At first they were thought to have a strain of whooping cough. C F was the last thing they were actually tested for!
Mel
Mel
My son was dx @ 2mo. They knew something wasnt right when he was born. The next day he was taken to our CH,(15 min away). There they asked if CF was in the family, we said no. Long story short he stayed in the hosptial for 8 days. His bowels were twisted & he had melculmia elias (sp) They drained his bowels the whole 8 days. They sent us home thinking he did have CF, with all the "CF drugs" & cpts. Then about 4wks later the cf clinic called & confirmed. He also had Traceomalasia, is this common in cf babies?? He sounded like a little pig. lol
Leah~mommy to Reece 3yrs <img src="i/expressions/angel_ani.gif" border="0">
Leah~mommy to Reece 3yrs <img src="i/expressions/angel_ani.gif" border="0">
My daughter was diagnosed at 8 years old. Looking back we can see signs from birth, but her symptoms were so mild that she was never diagnosed. From birth she was a BIG eater, but her weight would not show it. Although she was small, she always remained on the growth chart so the thought was she must have a fast metabolism. When she would get a cold the cough would seem to linger a bit, but it went away. Until, when she was 7 1/2 she caught a cold and the cough would not go away. I kept taking her back to the doctor and they would try something new. Alergy medication......still coughing. Maybe its "pre-asthma", used inhaler....still coughing. It could be post nasal drip (she always seemed to cough more in the AM), or acid reflux or maybe coughing had just become a habit. After six month of no improvement CF was mentioned at being at the bottom of the list, but they would do testing to rule it out. We were at the hospital, with the respiratory technician (I think he just ran the machines to collect data for the pulmonary doctor). He said, "well it doesn't look like asthma". So I let him know we were having a sweat test done next because they thought she might have CF. "That test is going to come back negative because her lungs are in too good a shape to have CF" is what he told me. Well, the sweat test came back positive so they did a blood test. She has two deltaF508 genes, yep she has CF!
First time on this site. Your daughter and my daughter not only both have cf, they have the same birthday! My daughter just turned seven this year. She is doing great! We found out at two weeks she had cf by blood test. She was born with meconium illeius. So, that propmted the testing. Your daughter is beautiful!
Hen's mom in TX
Hen's mom in TX