Guthrie test in babies

anonymous

New member
Hi
I wondred if anyone can help me.
When my little boy was born, he had jeunal atresia, sometimes called 'applepeel syndrome', I read that this can be associated with cf. When he had his guthrie test it came back as boarder line, so it had to be repeated a couple of weeks later, this came back as negative to cf

However I wondered if these tests can give a 'positive negative' ? if you know what I mean

Besides having the JA, when he was born he also has a slight anul prolaps, he does very large BM, which are smelly, and look greasy or have lots of mucus in them, this is not every BM, but most of them. He has an enormouse appitite but puts very little weight on, he's not under weight, and apart from a few hicups his weight is going up. He had a bout of croup abot 8 weeks ago lasted a couple of days with the really 'barking' cough, but since then hes had an awful chesty cough, bunged up nose, his cough is worse at night, I suppose this is with him lying down. The dr as seen him and says his chest is clear !!!

He doesn't taste salty, but I'm worried that the guthrie test was wrong, PLEASE I would really appriciate any advice on what to do next THANKYOU

Vicky x
 

anonymous

New member
is the guthrie test a blood test? If so, it can't test for all known mutations so I would recommend requesting a sweat test.
 

anonymous

New member
Hello there,
My son was referred for further testing from the guthrie test done at 3 days old.
The test only picks up a few common mutations so if you have any concerns a sweat test might be the next test.
If that came back borderline then it wouold be advisable to have a blood test done to test for further mutations.
One mutation my son has is the most common but the other they don't test for so it wasn't after checking a bit more that it was found.
Not all baby's taste salty with CF I know lots of people say thats how you can tell but my son has never tasted salty.
I had almost convinced myself he didn't have it because he didn't taste salty.
Best of luck to you.
Rebekah
Mother to Matt 22mths w/CF and baby on the way wo/CF
 

anonymous

New member
Hi thanks for taken the time to reply to me
you mentioned the sweat test, can I just request a sweat test from my gp<img src="i/expressions/face-icon-small-confused.gif" border="0"> I don't want him to think I'm some kinda paranoid mother, there again I really think I should go with my instincts and tell him what my concerns are!!!!
Thanks
Vicky x
 

anonymous

New member
Vicky, honestly you can ask your gp for a sweat test on your son but people have had much more accuate results with sweat tests that have been done by an accredited cystic fibrosis center. you can locate one by going to www.cff.org. I would recommend that you talk to your doctor about your concerns, and if they aren't willing to refer you for a simple test, you really ought to find one who will refer you. In the past when doctors have given my husband and I a hard time, I just remind myself that they only have a job because of patients and they should entertain all of our reasonable requests. If they aren't willing to do that, I have found there are always doctors out there who remember that patients (customers) are the only reason why they have a job and make money so within reason they do all they can to keep us happy.

I would think that since the initial test came back borderline, your doctor should be willing to refer your son for a sweat test. I wish you the best of luck and please do keep us posted on what the results show and if you have any troubles with your doctor.

Julie (wife to Mark 24 w/CF)
 

anonymous

New member
Hi Vicky,
I know what you are saying about feeling like the paranoid mother, but when it comes to the wellbeing of your child who cares what the doctor might think.
I am not sure where you live but ask for a referral to a CF centre or your local hospital where they can perform the test and they also treat CF patients.
My son's test came back at 69 (40-60) is borderline but he most definately has required treatment and they started him straight away.
So if your childs test was borderline you definately need to get another.
I wish you the best of luck, it is a really difficult thing to go through.
Rebekah
Mother to Matt 22mths w/CF
 

anonymous

New member
Thankyou Julie & Rebekah
I will make an appointment to see my gp, and just take it from there

Thanks again I really appreciate your advice.
Vicky x<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
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