possible cf?

[anonymous]

I am the mother of a 3 y.o. with CF. My son was dx. when he was a week old. I have a friend who has a 4 month old son, who only weighs 11 lbs. He was 8 lbs. when he was born. He appears to have all of the symptoms of CF, such as: hearty appetite with poor weight gain, lots of spitting up, smelly stools, bloated belly, terrible cough with phlegm, etc. Her doctors just keep switching his formula, blaming his poor weight gain on that. They finally did some blood tests after my friend's mother in law pushed the issue, knowing that something isn't right with the little guy. I believe they have done, or will be doing a sweat test on him to r/o CF. My question is this . . . is the sweat test always 100% accurate?? They did some blood work and said that they were able to r/o CF, but I question that since there are soooo many gene mutations out there. Any suggestions that I can tell her to tell her doctor. And could someone explain to me what Ambry Genetics is. Any help would be much appreciated. My friend is somewhat in denial that something is wrong with her little guy and is getting very upset at all of her family who are very concerned about his failure to thrive. I just hope she realizes that early intervention is the best if her little guy does have CF. One last question is, if she has the sweat test done, is it best to do at a CF clinic rather than at a general clinic/hospital. I would appreciate any response to these questions. I guess i will be really surprised if he doesn't have CF. Thanks!

Jodi, Mom to Tucker w/cf

 

[anonymous]

Jodi, sweat tests can be faulty as well can the gene tests, but faulty ONLY in the sense the fact that there are over 1000 unknown mutations and new ones being found all the time. Ambry genetics is the only laboratory that tests for all the known 1000 mutations. Most laboratories at the hospital test for only 25 mutations. Genzyme (a mail out that many docs use) ONLY test for 86 mutations. I have heard of one other laboratory that tests just as much as Ambry does (even though they claim they are the only) but I can't remember them at the moment. Here's ambrys website: <a target=new class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.htm
">http://www.ambrygen.com/ts/ts_cf.htm
</a>
Many times when a sweat test is conducted at a non CF accredited hospital/clinic, the results are inaccurate (usually false, when they should be positive). I would HIGHLY recommend that your friend go to an accredited CF clinic or hospital. They can be located at www.cff.org.

It's great that you are trying to assist your friend so much with this. She may very well be in denial, but this is her childs life and if he does have CF, she will thank you in the end. If not, it may open the doors for further testing. I would keep on it, not push her but just keep talking, suggesting and such.

Take care,

Julie (wife to Mark 24 w/CF)