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Thread: dF508 and Sweat Test experience....

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    dF508 and Sweat Test experience....

    We just took our little two week old in for a sweat test. He is a carrier of the Df508, and were sent to get a sweat test on him. The results were a 32 on the sweat test, which has mom and me a little freaked out. We have no history of CF in our family, and this just kind of blind sided us. Could it be possible he was just to little for the sweat test? 32 is right at that border range. We just cant get it out of our heads. Any help will or experience in similar circumstances would be very helpful! Thanks.

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    It sounds like newborn screening came up with one mutation, so the doctors are starting with a sweat test to see if more testing (genetic) testing is warranted. I'm sorry you're going thru this and hopefully you'll get some answers soon.

    Our son was diagnosed after a neonatologist suspected CF because of a bowel obstruction. The doctor had ordered blood tests, which tested for about 100 of the most common cf mutations --- there are over 2000. A week later we got the results back. No family history here either.
    Parent to a child wcf double delta f508

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    Quote Originally Posted by Ratatosk View Post
    It sounds like newborn screening came up with one mutation, so the doctors are starting with a sweat test to see if more testing (genetic) testing is warranted. I'm sorry you're going thru this and hopefully you'll get some answers soon.

    Our son was diagnosed after a neonatologist suspected CF because of a bowel obstruction. The doctor had ordered blood tests, which tested for about 100 of the most common cf mutations --- there are over 2000. A week later we got the results back. No family history here either.
    Yes. It was through the newborn screening. He hasn't had any issue/symptoms, and the Dr. seem to just think he was just a carrier, but after a 32 they want to do a sweat test again in a month. He has already been screened against some 60 variations of mutated genes, but only positive heterzygous for dF508. Fingers crossed it was just a bad first sweat test.

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    Quote Originally Posted by Jreed1101 View Post
    We just took our little two week old in for a sweat test. He is a carrier of the Df508, and were sent to get a sweat test on him. The results were a 32 on the sweat test, which has mom and me a little freaked out. We have no history of CF in our family, and this just kind of blind sided us. Could it be possible he was just to little for the sweat test? 32 is right at that border range. We just cant get it out of our heads. Any help will or experience in similar circumstances would be very helpful! Thanks.




    Hi and welcome Jreed,

    Firstly, CONGRATS on your new baby boy! How exciting! I'm so glad to hear he is doing well. Secondly, I'm glad to hear is that your doctors seem to be very on top of the situation (whatever it turns out to be, or not be).

    Unfortunately the majority of us with CF are not aware of any family history of CF. Way more often than not, it's a blindside. I think with one mutation identified, and sweat test of 32, further testing is definitely warranted. I'm a little surprised that they are doing another sweat test as opposed to doing an expended genetic panel. As Ratatosk mentioned, currently there are over 2,000 cystic fibrosis mutations. Newborn screening only screens for the most common ones. For example I have one copy of DF508 (most common), and S945L which is rare and would not be picked up on any basic panel.

    As far as being too little for accurate sweat test results... I'm not sure. The test is routinely performed on infants and they have separate parameters of infants below 6 months of age, so I think they account for that. I'm going to be honest with you, I don't have much of "hunch" here on whether or not your little one has CF. You're correct, 32 is just a smidge into the "intermediate" (borderline) range for a newborn. But combined with the one mutation found it makes sense to test further. It may well turn out that he is a just a carrier, but way better safe than sorry. In CF, proactive/preventive treatment is the name of the game with little ones. It is definitely a huge advantage to know very early on if your child has CF so you can do everything possible to maintain their health.

    I want to say this to you and mom; I can only imagine the fear you must be feeling, but please try to enjoy your baby and everything that a new baby brings. Cf or no, your baby will be amazing and do amazing things. Really. So just soak it all in. Also, please know this, IF your little one does have CF, the advancements being made in the CF world right now are nothing short of amazing. I'm 36 w/CF and have never seen anything like it, it's exciting for us all. When I was born in 1980 my parents were told I'd be lucky to live into my teens, yet here I sit at 36, a wife, mom, college graduate. I know it's incredible hard to shake the fear of the unknown, but please take heart and just focus on that bouncing baby boy!

    Take care and please keep us posted!

    Autumn

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    Quote Originally Posted by triples15 View Post
    Hi and welcome Jreed,

    Firstly, CONGRATS on your new baby boy! How exciting! I'm so glad to hear he is doing well. Secondly, I'm glad to hear is that your doctors seem to be very on top of the situation (whatever it turns out to be, or not be).

    Unfortunately the majority of us with CF are not aware of any family history of CF. Way more often than not, it's a blindside. I think with one mutation identified, and sweat test of 32, further testing is definitely warranted. I'm a little surprised that they are doing another sweat test as opposed to doing an expended genetic panel. As Ratatosk mentioned, currently there are over 2,000 cystic fibrosis mutations. Newborn screening only screens for the most common ones. For example I have one copy of DF508 (most common), and S945L which is rare and would not be picked up on any basic panel.

    As far as being too little for accurate sweat test results... I'm not sure. The test is routinely performed on infants and they have separate parameters of infants below 6 months of age, so I think they account for that. I'm going to be honest with you, I don't have much of "hunch" here on whether or not your little one has CF. You're correct, 32 is just a smidge into the "intermediate" (borderline) range for a newborn. But combined with the one mutation found it makes sense to test further. It may well turn out that he is a just a carrier, but way better safe than sorry. In CF, proactive/preventive treatment is the name of the game with little ones. It is definitely a huge advantage to know very early on if your child has CF so you can do everything possible to maintain their health.

    I want to say this to you and mom; I can only imagine the fear you must be feeling, but please try to enjoy your baby and everything that a new baby brings. Cf or no, your baby will be amazing and do amazing things. Really. So just soak it all in. Also, please know this, IF your little one does have CF, the advancements being made in the CF world right now are nothing short of amazing. I'm 36 w/CF and have never seen anything like it, it's exciting for us all. When I was born in 1980 my parents were told I'd be lucky to live into my teens, yet here I sit at 36, a wife, mom, college graduate. I know it's incredible hard to shake the fear of the unknown, but please take heart and just focus on that bouncing baby boy!

    Take care and please keep us posted!

    Autumn
    Thank you for your kind words Autumn. We have been loving this boy as much as his older brother. We are leaving everything in God's loving hands and we know he does everything for a reason. Thank you for the encouragement, and I pray many blessings to you and yours!

    -Joe

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    You're more than Welcome Joe! Please let us know if any other questions come up or you just need to vent while you wait. And of course let us know how the next sweat test goes.

    Autumn

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    We were phoned when my daughter was 2 weeks old and told that she was a carrier on DF508 and may have CF and to have a sweat test. Her results were negative for the sweat and we were told ,"when she was 6 weeks old, that she did not have CF and to take our daughter home and she would have a healthy long life. At 6 years old she was positively diagnosed. They sent her bloods to New Zealand, where they check for other mutations and the found 3 polymorphisms. No family history

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    Quote Originally Posted by Rach3ica View Post
    We were phoned when my daughter was 2 weeks old and told that she was a carrier on DF508 and may have CF and to have a sweat test. Her results were negative for the sweat and we were told ,"when she was 6 weeks old, that she did not have CF and to take our daughter home and she would have a healthy long life. At 6 years old she was positively diagnosed. They sent her bloods to New Zealand, where they check for other mutations and the found 3 polymorphisms. No family history
    Rach3ica,

    Thank you for your post. Did you Daughter have any symptoms as an infant and what symptoms does she have now? What does does 3 polymorphisms mean? Did the other Gene have a mutation? If so do you know what its is? Thanks. Praying for you and your daughter.

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    Hello, When she was little she had alot of Bronchiolitis and Pneumonia at 2years old. When she started Kindy at 4years old, she was constantly sick with a green nose and cough .They said it was asthma but, after trying every Asthma medication and preventative found , that was not the case. I changed Doctors twice until someone finally listened to me. I kept a chart and every time she had a temperature, when her cold would flair back up. This went on for 6 months until the Doctor she was seeing said, "I don't know what is wrong with your daughter'"
    It took 6 months to get into the Pulmonary specialist at the hospital and after another negative sweat test and multipal appointments, tests and medications, then they tested her sputum.
    They found Pseudomonas Aeruginosa.
    They explained Polymorphisms to us as, if you get a cell and chop it up into pieces , that is a Polymorphism. From that they got M470V/5T/12TG alle

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    [QUOTE=Rach3ica;1082606]Hello, When she was little she had alot of Bronchiolitis and Pneumonia at 2years old. When she started Kindy at 4years old, she was constantly sick with a green nose and cough .They said it was asthma but, after trying every Asthma medication and preventative found , that was not the case. I changed Doctors twice until someone finally listened to me. I kept a chart and every time she had a temperature, when her cold would flair back up. This went on for 6 months until the Doctor she was seeing said, "I don't know what is wrong with your daughter'"
    It took 6 months to get into the Pulmonary specialist at the hospital and after another negative sweat test and multipal appointments, tests and medications, then they tested her sputum.
    They found Pseudomonas Aeruginosa.
    They explained Polymorphisms to us as, if you get a cell and chop it up into pieces , that is a Polymorphism. From that they got M470V/5T/12TG alle[/QUOTE


    I see. I'm so sorry for the troubles you had to go through to get that diagnosed. I couldn't imagine your frustration. Thank you for your post and your comments. We will be testing our little man again on April 3rd, and are praying for a low sweat test score. We do understand that even if he does pass the sweat test, that we need to do our due diligence when he does get sick Hope all is well with your family.

    -Joe

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