Son test at 34 at 5 weeks of age

[CFlat]

We just got the results back today that our son is at least a carrier. He is 11 weeks old. His sister was found to have CF about 8 weeks ago. His sweat test was 34 when he was only 5 weeks old. They say that he produced a lot of sweat for his age and they feel they got an accurate reading, but they won't tell us that he is in the clear. We at least know now that he is a carrier. Has anyone else had this problem?

Chuck
Avery 20 months w/cf
Rhett 11 weeks carrier

 

[anonymous]

So I am assuming they are doing a genetics test? Is he old enough to collect enough blood.. or are they waiting. Regardless, the DNA test is the next step.

I don't understand. They tell you he is a carrier based on a sweat test? I don't even think that is possible (to know if someone is a carrier based on a sweat test). Genetic testing is the only way to determine if someone is a carrier. The sweat test should tell you whether or not your son has CF... not if he is a carrier. Of course, the sweat test results aren't always "crystal clear" and further DNA testing has to be done to make sure. Your son should repeat the sweat test in a few more weeks to attempt to get a more definitive result. Based on what you just told me, you really don't know anything about his cf status (carrier or not). I hope the test was performed at a CF accredited center??? If not, then have the test repeated at an appropriate center.

Just curious... does your son taste salty.

I have thinking of you and your family during this trying time. I hope you find your answers soon. Happy to try to answer any questions you have.

Jena
4 yr old son with cf
1 yre old daughter no cf

 

[anonymous]

Chuck,
a few questions...have you and your wife been tested to see what mutations you carry? If so, that could help narrow the search for your baby's mutations. Also, have you identified Avery's 2 mutations? IF so, your newest baby should match up. Where did you have this test done? I can only assume that it was a blood test this time and not a sweat test, right? it has been mentioned a few times on this site, but a good laboratory that specializes in CF carrier testing and CF diagnostic testing is AMBRY genetics (you can go to google.com and type that in).

What you posted sounds very confusing to me and somewhat inaccurate on your doctor's/labratorys behalf.

Julie (wife to Mark 24 w/CF)

 

[anonymous]

Chuck,
Do they know what mutations your dd has? If so, they should just be able to test your ds for the same mutations that your dd has. If he has both mutations your dd has - he has cf; one mutation - he's a carrier.

That of course assumes they know your dd's mutations. Since she was recently diagnosed, they may not know her mutations yet. In that case, I'd suggest an Ambry genetics test for both children.

Another scenario is that they ran a panel like genzyme on both of your children and only came up with one gene (genzyme is the most commonly used test but only tests for the 86 most common mutations which should catch 90% of cf cases in white anglo-saxons). Since your dd had a positive sweat test, they know she has cf, and therefore can't rule it out in your ds since he has the one mutation they've identified for your dd. In that case, I'd still recommend the Ambry test for your ds and also another sweat chloride test. It wouldn't hurt to also do the ambry test on your dd for comparison's sake.

Last scenario is that they ran the Ambry panel on both children and only came up with one gene. Ambry will identify something like 96-98% of the cases of cf. At this time, it is the most comprehensive genetic testing available. While unlikely, it's possible that your dd is in that 2-4% whose second gene isn't even recognizable by Ambry yet (meaning they haven't discovered it as a cf gene yet.) In that case, the only way you'll know for certain whether your ds has cf is time. Specificially, time to see if he clinically presents with symptoms suggestive of cf and time for them to identify your dd's second gene. Repeating the sweat test will also help because if he tests positive then you know he has cf. If, however, he's borderline or has a high negative, you still won't be able to rule <b>out</b> cf. This scenario is probably the most unlikely and I hope for your sake, not the case for your family.

I hope that helps. Feel free to ask anymore questions, particularly if you find anything in my post unclear. Please keep us posted.
Mel

Here's a link to Ambry:
<a target=new class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.htm">http://www.ambrygen.com/ts/ts_cf.htm</a>

 

[CFlat]

Our Dr. called back after looking at both charts (Avery and Rhett) and he said that he is only a carrier and has one mutated gene. I was not clear in my earlier statement, they were doing genetic testing. They did collect enough sweat doing the sweat test. Thank you for all the feedback.

Chuck

Avery 20-months w/cf
Rhett 11 weeks carrier

 

[anonymous]

You cannot determine that someone is a carrier by doing a sweat test - impossible.

 

[anonymous]

That's great news, Chuck! I'm sure you're very relieved <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

chuck, who did your genetic testing and how many mutations did they check? Since it has been determined that Avery does have CF, I would recommend that you make sure Genetic testing is done on this child. IF the mutations are identified via a local method, great, you can match your baby up and determine if the baby is a carrier or has CF. If the local lab is NOT able to identify one or both of Avery's mutations, I would very strongly recommend AMBRY genetics for Avery. Then, if they are able to identify both of Avery's mutations, they can match Rhett up to them because both children should match eachother.

I would pursue this until you have a definate answer without any dobut. There is nothing worse than a child having CF and not being able to recieve proper treatment because of a bad or misdiagnosis.

Julie (wife to Mark 24 w/CF)

 

[anonymous]

That is absolutely wonderful news! Now that you have all the facts, settle into your life raising your 2 beautiful children. Keep coming back here with any questions. It will be hectic at times having these 2 angels so close in age. As your daughter gets older, the treatments will get easier. Until then, be patient with yourselves while you try to settle into a routine.

Jena
4yr old son with cf
1yr old daughter no cf

 

[anonymous]

<img src="i/expressions/beer.gif" border="0"> Great news, Chuck!! Enjoy both your children, they grow up way too quickly<img src="i/expressions/face-icon-small-wink.gif" border="0">

Julie, if you read his post midway down, both children did have genetic testing. From the sounds of it, his dr did compare the genes and Rhett only had one.

 

[anonymous]

I did go back and read that in chuck's post, thanks for the clairification.

I am glad you recieved the good news Chuck, I wish the best to your family!


Julie (wife to Mark 24 w/CF)