Worth bringing up?

[Printer]

Sarah:

I just re-read your op. You asked "what if the newborn screening missed something".

There are almost 2000 known mutations, any two of these will cause Cystic Fibrosis. A Newborn Screening is for ONLY the 32 most common mutations, you do the math.

The answer to your question is HELL YES.

Bill

 

[SarahBStevens]

Thank you Bill. I appreciate and value your input. The pulmonologist said when he did the scope he collected some of the yellow secretion to test it for bacteria. He did not say that he was culturing it to look for CF. They took the secretions on a Friday and called Monday and said it was growing low amounts of the bacteria I previously named (dont have the spelling in front of me). The nurse said he would not typically treat such a low anount of bateria but since my soon has significant inflammation in his lungs they wanted to start him on antibiotics.

 

[Printer]

I stand to be corrected but I am not aware of any culture that can "identify Cystic Fibrosis".

For the last time, I promise, you need to have your child seen by a CF Specialist at an Approved CF Center.

 

[Allansarmy]

The doctors hesitation is that he does not have salty skin, is not under weight (I have always over fed him), and we have no family history.

I would still press the doctor for a sweat test at least. The doctor's hesitation about the non salty skin and no under weight and no family history are just silly to me (sorry). My son was very lucky as his pediatrician was the leading CF specialist in Dallas, Texas. He found my son's CF at 4 months. Wasn't gaining good weight, bad stools, but he didn't care that we had NO history of CF on my mother or father's side of the family. So we got the luck of lottery genes.

Hang in there, you will get a diagnosis one way or another. Could just be something simple as irritable type of bowels, a food allergy. If it is CF, then that's what we are here for. To support each other. People with CF are living longer and fuller lives with the treatments. Once this newer medication comes out called Kalydeco, then you will see a joy like you have never seen before, once they get approval for the other mutations.

 

[SarahBStevens]

I begged and pleaded for a sweat test. Even told the doctor I want it just to make myself feel better. Finally the pediatrician agreed. My son had his sweat test two weeks ago. The lady even said "wow look at how big he is. It will come back just fine". Then after she came to the waiting room and said she is going to throw out the results because they were positive. She said they didn't get enough sweat so may he was dehydrated. He was sick and threw up twice two nights before the test. I'm clinging to the term "false positive". We have the test redone on Monday. Now I'm worried that when it's negative I am going to wonder if that is right.

 

[Ratatosk]

Did she tell you what the number was? I've never heard of a false positive sweat test, although I'm not a medical expert.

 

[SarahBStevens]

No she didn't say the number. She just kept trying to assure me that the test was wrong.

 

[ymikhale]

I have never heard of a false positives either, false négatives - yes. I agree with Printer, you have to go to a CF center to get definite answers.

 

[Ratatosk]

When you say she was trying to assure you the test was wrong... was it a cf specialist or the tech doing the test?

 

[Aboveallislove]

Dear Sarah, saying some special prayers for today. A few thoughts...first, was the sweat test at a cf center? Second, if still time,add some salt to the bottle to et plenty of sweat for testing. Please post when you can.

 

[suziesmom]

Wow......... Someone else who was told they were overprotective. My daughter who is now 24 was not diagnosed until age 11. And it was only because of my insistence to have her checked for allergies. Her regular Dr. continued to tell me it was "just allergies" and to give her Robittusun DM. I pushed and pushed until he finally gave me a referral but he said it was not going to do anything for her. We went in. The Dr. there said they were going to do a sweat test and not to worry because he could tell just by looking at her that she did not have CF. Imagine how I felt when I heard the news that my daughter DID have CF! Every parent should follow their own line of thought and if they suspect something is wrong, go and have your children tested.

 

[SarahBStevens]

Test came back as an 18! The person who did this test said the last one was inconclusive and the tech that did it should not have told me it was positive.

 

[ymikhale]

IMHO I would still push for genetic testing (full genetic sequencing). This is the only way to rule out CF. I hope it is not CF, but you cannot be absolutely sure with the sweat test (false négatives are common)