<img src="i/expressions/clock.gif" border="0">My wife and I just found out that our 5 week old son tested positive for cf from the heel test done in the hospital. We found out 3 weeks ago and are scheduled to have the sweat test done on Wed, the 26th. She tested positive as a carrier during pregnancy, I tested negative. I know the carrier tests are very shallow (most of them, anyway). I have done some research on the net in the past few weeks, looking for some positive signs that he may not be affected, but there does not seem to be any real obvious symptoms for newborns. I do not know how many mutations were found 1 or 2, he does not have salty skin. We live in upstate ny, so he does not sweat too much, as it is cool in our house. The only sign I see is that he seems to be straining to have a bowel movement quite often, and does have gas... his belly makes some noise every once and a while. He spits up formula every now and then, but that is all. These could be just normal symptoms for just what they are, I don't know. He is constipated, but when he does go, it is a little runny. I don't really have a question for the forum, just looking for a shoulder to lean on as my wife and I prep ourselves for the next few days and what wednesday may bring for us. Any feedback is welcome, and I'll keep all of you posted after the test is performed.
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positive newborn screening test
- Thread starter lawndawg
- Start date
tell tale sign would be greasy stools that occur 2-4 times daily. Also, failure to thrive, meaning that he isn't gaining weight, isn't really sleeping, is someitmes very fussy (almost like colic). There are other issues too that can be involved such as respiratory and such but CF is very different for every individual.
The "general" CF test that they give to parents to be only covers 25-50 of the most common CF mutations. But, there are over 1000 known mutations, so you could be one of those uncommon mutations. If your child only has 1 CF gene, that means he is a carrier. If he has 2, even if they are different mutations-he has CF.
If your child does have CF, it sounds like it may well be a very mild case-only time will tell though. And the earlier you find out, the sooner you can start treating his symptoms and discomfort and give him medications that will, in the long run, maybe give him a much longer life. I do pray that the test was wrong and that is not the case though.
Please keep us updated when you get the results and know that this site is here for parents, family members, friends and Cfers. We all have questions and are doing all we can to understand, and if you can think of any more information you are interested in, don't hesitate to post it. Best of luck with the testing this week!
Julie (wife to Mark 24 w/CF)
The "general" CF test that they give to parents to be only covers 25-50 of the most common CF mutations. But, there are over 1000 known mutations, so you could be one of those uncommon mutations. If your child only has 1 CF gene, that means he is a carrier. If he has 2, even if they are different mutations-he has CF.
If your child does have CF, it sounds like it may well be a very mild case-only time will tell though. And the earlier you find out, the sooner you can start treating his symptoms and discomfort and give him medications that will, in the long run, maybe give him a much longer life. I do pray that the test was wrong and that is not the case though.
Please keep us updated when you get the results and know that this site is here for parents, family members, friends and Cfers. We all have questions and are doing all we can to understand, and if you can think of any more information you are interested in, don't hesitate to post it. Best of luck with the testing this week!
Julie (wife to Mark 24 w/CF)
Sorry to hear about the confusion you are going through right now. As far as cf screening goes with different mutations, the initial tests are limited. My son's mutations, for example, are really rare. It took our clinic over a year to find both of them. If I understand right, they first test for th most common 80. So, if you test negative as a carrier, you probably are, but there's also the chance that you have a mutation that's not as common. This has given family members of ours a lot of confusion...because they would have to undergo a series of pricey tests to determine IF they have either of these rare mutations. I hope I'm making sense. If you have any questions, feel free to email me.
Carey
bono40@aol.com
Carey
bono40@aol.com
Hello,
Was it a blood test that confirmed this? Reason I ask is that they usually don't lie. The sweat test is still the "gold standard". We knew before our son was born that he had CF. He was still given a sweat test at 3 months old to confirm what we already knew. In any event my son did not pass his meconium until the 47th hour (which was another sign of CF). He was also very gassy and constipated from birth (which as you mention could be normal baby stuff!). He did not start enzyme treatment until he was 10 days old. He was not gaining any weight (which as Julie mentions is another sign of CF).
It took us a good 9-12 months to come to terms with this. Let us know how the sweat test comes out. You should know the results within 1 hour of the test.
Also - my son was VERY salty at birth. After his first bath he did not taste salty but as the temp outside rised his salty taste came back.
Was it a blood test that confirmed this? Reason I ask is that they usually don't lie. The sweat test is still the "gold standard". We knew before our son was born that he had CF. He was still given a sweat test at 3 months old to confirm what we already knew. In any event my son did not pass his meconium until the 47th hour (which was another sign of CF). He was also very gassy and constipated from birth (which as you mention could be normal baby stuff!). He did not start enzyme treatment until he was 10 days old. He was not gaining any weight (which as Julie mentions is another sign of CF).
It took us a good 9-12 months to come to terms with this. Let us know how the sweat test comes out. You should know the results within 1 hour of the test.
Also - my son was VERY salty at birth. After his first bath he did not taste salty but as the temp outside rised his salty taste came back.
Hi,
I am also from upstate NY and my now 2 month old was diagnosed at 5 weeks old. She is doing well. The only sign she had was her stools were very smelly. She had no problems passing the muc. at birth but had a slight infection at birth that they say isn't from her having cf. She also has no problem gaining weight. she is now over 10 pounds and just turned 2 months Thur. Good luck.. We go to Albany Tues.
I am also from upstate NY and my now 2 month old was diagnosed at 5 weeks old. She is doing well. The only sign she had was her stools were very smelly. She had no problems passing the muc. at birth but had a slight infection at birth that they say isn't from her having cf. She also has no problem gaining weight. she is now over 10 pounds and just turned 2 months Thur. Good luck.. We go to Albany Tues.
I guess I don't really know what constitutes a smelly stool... I'm a first time parent and don't smell anything that would seem abnormal with regards to the smell, it has an odor, but nothing that would cause your stomach to turn! I think the test was the one they do for newborns in NY, it is a "heel test" which tests for trypsinogen in the blood? He has gained almost 2 lbs in the last 5 weeks, born 12/16, and was born at 36 weeks. weighed only 4-13 when we left the hospital, weighed 6-5 at last Dr. visit on 1/6/05. He is gassy, and seems to strain at times to have a bowel movement, but that's about it. We'll just have to wait for the test to be done. Thanks to all who replied to me.....Fred.
Fred, the "smelly" stool would be fairly apparent to you-even as a first time parent. Although, if your son has a mild case that may not be such a big issue. some CFers seem to have a big problem with digestion/greasy stools and need lots of enzymes and other's dont' have a big issue with it. It really is a very tricky genetic disease. And again, the gaining weight has to do with the digestion issues, so it just may be that your child isn't so affected in that area. Another possibility is a symptomatic carrier of CF. I have heard of cases like that, and am not sure how TRUE that is, but i have heard of babies only having 1 CF mutation but they still have some SLIGHT symptoms of CF, but not bad at all. Or, if your little one does have CF it may be a mild case.
Good luck with everything you have coming up and get us posted.
Julie
Good luck with everything you have coming up and get us posted.
Julie
Hello, my daughter was born December 6th and she also failed her newborn screen. My husband is a carrier, I tested negative. We also live upstate New York. We are going Monday to the children's hospital in Westchester. In NY first they test every baby for the level of trypsinogen . If the trypsinogen level is high, then they test for the common 32 mutations. If you have both, then you fail the newborn screen. However, your son still may be a carrier. On the bottom of the paperwork the pediatrician gave me, it had her exact number of trypsinogen. It also had the percentage that she would be positive lfor CF. Hers is 5%. You might want to get these papers from your pediatrician if you don't have them. We are also waiting and hoping like you. Every cough and sneeze is analyzed. You can e-mail me directly if you want. My husband did a lot of research on what a high level of trypsinogen is.
I was a first time parent with my CF daughter and her smelly, bulky stools were NOT apparent to me. I always knew they stunk but being a new mom you don't have anything "normal" to compare it to and no one else that changed her diaper mentioned it either. Grease in the stool wasn't very noticeable until she became potty trained and then we could see the grease droplets in the toilet. It's hard to tell what is what when it's smushed in a diaper. Good luck to you and your family.
Amy
Amy
To all of you who replied to my previous posts...... my sons sweat test came back negative.... his sodium level was at 27 and his chloride level was 22....he does not have cf.... it has only been a few short weeks that I have been made aware of what this disease is all about, and I just want to say that I have a GREAT deal of admiration,and respect for all of you who are touched in whatever way by this disease. If there was ever proof of the old phrase "strength in numbers" this forum holds that proof. My thoughts and prayers will be with all of you as I live out my life, and I plan on trying to get more involved in community activities to help raise $$ for the cause. Thank you to all of you who replied to my posts..... and most importantly........ all of you ....... keep the faith, for it is faith that keeps us..... Fred
HollyCatheryn
New member
Glad to hear that your son does not have CF. As for the gassiness, excessive spitting up and difficulty passing stool - that's formula. Lots of babies have trouble pooping and get gas from formula. Contact La Leche League (<A href="http://www.lalecheleague.org">www.lalecheleague.org</A>) they can help you with relactation if you want to try to breastfeed. That's the best option for getting rid of this problem for your baby and giving him optimum health. Or try switching formulas. There are a myriad ingredients and formulations of ingredients in formulas that can cause allergies and gut problems for babies. Formulas are also very expensive, especially the specialty kinds. If you can at all consider breastfeeding, that's going to be your best bet. And it's totally FREE!
Holly Catherine
My daughter will be 5 months old the 17th. She is exclusively breastfed. I pump and am able to get 4 ozs every time.
She has only gained 3lbs 5 ozs since birth--that 3.5 lbs includes supplementing everything I can pump in a 24 hour period, which is generally 12-18 ozs daily. She was 8 weeks old (2 months old!!!) before she regained her birth weight, and between 4-6 weeks old actually lost 3 ozs. No one believes there is anything wrong. She pooped about 10-15 times a day for the first 2 months. She is not "salty." She eats until she falls asleep, wakes 20 minutes later, eats again. Since the child has been born she has never taken a nap during the day of longer than 45 min to 1 hour. She cries when she has to go to the bathroom...I mean "colic" cries. However, her poops have slowed down now to sometimes 2x day or maybe 3x eod. In my gut, something is "wrong." No one will listen!!
What is "normal" for a CF breast fed baby?
She is not my first breastfed baby. She had jaundice with values up around 19 for days. She was on a bili blanket for 16 days. As a matter of fact, she was 17 days old before she had a bili level below 15.
She is so tiny...so tiny... I stripped her down naked a laid her in the floor...her ribs are beginning to show...
Could someone please tell me what is normal for a CF breastfed baby?
Have been to LLL, 2 Lactation Consultants, 3 different pediatricians, an ENT, etc...if someone tells me she is FINE one more time, I'm going to scream...
Please someone respond, I need to know what to do...<a target=new class=ftalternatingbarlinklarge href="mailto:dewault17@msn.com">Text</a>
My daughter will be 5 months old the 17th. She is exclusively breastfed. I pump and am able to get 4 ozs every time.
She has only gained 3lbs 5 ozs since birth--that 3.5 lbs includes supplementing everything I can pump in a 24 hour period, which is generally 12-18 ozs daily. She was 8 weeks old (2 months old!!!) before she regained her birth weight, and between 4-6 weeks old actually lost 3 ozs. No one believes there is anything wrong. She pooped about 10-15 times a day for the first 2 months. She is not "salty." She eats until she falls asleep, wakes 20 minutes later, eats again. Since the child has been born she has never taken a nap during the day of longer than 45 min to 1 hour. She cries when she has to go to the bathroom...I mean "colic" cries. However, her poops have slowed down now to sometimes 2x day or maybe 3x eod. In my gut, something is "wrong." No one will listen!!
What is "normal" for a CF breast fed baby?
She is not my first breastfed baby. She had jaundice with values up around 19 for days. She was on a bili blanket for 16 days. As a matter of fact, she was 17 days old before she had a bili level below 15.
She is so tiny...so tiny... I stripped her down naked a laid her in the floor...her ribs are beginning to show...
Could someone please tell me what is normal for a CF breastfed baby?
Have been to LLL, 2 Lactation Consultants, 3 different pediatricians, an ENT, etc...if someone tells me she is FINE one more time, I'm going to scream...
Please someone respond, I need to know what to do...<a target=new class=ftalternatingbarlinklarge href="mailto:dewault17@msn.com">Text</a>