My daughter was just tested at childrens hospital in milwaukee...We went because of a sweat conductivity of 57 (which is equivalent to a sweat chloride of 42). She is continously sick with resp. infections and has some pretty crazy BM's. Her sweat chloride was 10 on one arm and 14 on the other arm. I was shocked....however they told me without a doubt no CF...but they didn't do any bloodwork. It was weird because I was told she would have a genetic test also but they didn't do it. They said the numbers were so low they don't question it at all. Should I feel comfortable with this? Maybe I'm just an overly worried mom....except she's sick again. Also, we had finished pediapred 1 week prior....any effect on test? They also asked for a stool sample and then said they weren't going to run it because her sweat chloride was normal?? What??? is this the norm? We traveled a long distance and I feel like there are so many unanswered questions.
Ugh, I've heard similar stories before from people and how frustrating it is to get a diagnosis. People whose children were misdiagnosed with asthma for years. One was a young mother with cystic fibrosis, who wanted to make sure her son was fine. Her husband had passed the intitial carrier testing -- only tested for about 85 mutations. Had a sweat test done on her son and it was in the teens, basic screening (32 mutations) on her new baby. But she still wasn't comfortable with the results. So she pushed for more tests -- her husband WAS a carrier and her son DOES have cystic fibrosis.
I don't understand why an accredditted CF facility like the one you went to would treat you and your child with such disregard. What harm does it do them to do an amplified genetic screening such as ambry or quest? Went thru a similar situation with DH's cousin. Knowing that our child had CF, she wanted carrier testing done prior to conceiving a child and she couldn't get ANYONE to test her, even the head of the local CF program we used to attend questioned why she would want to proceed with testing. Hello!?
It's my understanding that anyone (medical professional) can order the genetic tests. I recently saw a post where someone ordered up the ambry amplified test and was going to have her regular pediatrician take care of the testing. Was probably NOT going to be covered under insurance, but this new mom was willing to take that chance.
Thanks for the info....we see a new pediatrician on thursday...I heard he is wonderful and very thorough. Will ask for his input. I'm a nurse and the nurses where I work(at a hospital) said he is the best. And you should hear how opiniated nurses can be about doctors! Thanks again.
My 4 year old grandson was just tested with the sweat test at Phoenix Children's Hospital and the results were 107...which resulted in Cystic Fibrosis.
0-40 is considered normal, 40-60 borderline and 60-100+ is considered positive for CF. The problem is that while a high number is a definate for CF, it's doesn't necessarily mean that a lower number isn't CF. My child is a prime example -- he had a normal 32 at an accreditted CF facility, yet genetic blood testing revealed CF. There are over 1500 genetic mutations for cf and the basic blood tests only cover a small percentage of those 35-80.
Hopefully you'll be referred to an accreditted CF center. They should be doing blood tests for vitamin levels, liver function. If he's pancreatic insufficient, he'll probably be prescribed digestive enzymes. With pancreatic insufficiency, there are also concerns with fat soluble vitamins -- A, E, D...
Throat or sputum cultures to see if he's growing any common cf bugs like pseudomonas, staph, h-flu and determine how to treat him.
Hopefully your clinic is very proactive an agressive. Personally, I dislike the term mild CF. CF is a progressive disease and eventually the lungs WILL become affected. So I'm a firm believer in hitting the ground running with chest physiotherapy treatments, nebulized medications...
Not sure how your clinic will do things. Because DS was diagnosed as a baby, we had to do chest physiotherapy 2-4 times a day. When he was big enough, we were able to get a vest -- there are a couple different companies which make them. He used to watch videos or cartoons while vesting, now days he plays xbox and ONLY when vesting.
We do duoneb (albuterol and atrovent) while vesting for 15-30 minutes. Some people use a puffer/inhaler prior to vesting instead. Because he cultured pseudomonas, he's on tobi nebs every other month, twice a day. He also nebulizes pulmozyme -- a mucus thinner once a day. Some clinic use hypertonic saline and mucomyst instead.
He's never been on steroids. He takes digestive enzymes. Vitamins that are higher in ADEK. He's on a couple oral antibiotics. Zithromax, not for infection, but it's used with CFers to treat inflammation issues. Septra because he cultured something called Steno Malt last year.
He goes to CF clinic 2-4 times a year. They always do a throat/sputum culture to see if he's growing any cf bugs. Once a year they do blood tests & chest xrays. He's also had a CT Scan.