CRMS baby and sweat test results


New member
Hi everyone! Baby is now at 5.5 months, and we just completed her 2nd sweat test Monday. The results came back at 22 and 20--it went down from the 33 and 30 when she was 25 days old. So I think it's safe to say, she falls into that category that is defined at CF being very unlikely.

I'm thinking our situation disproves the thought that 2 mutations equals CF. Any thoughts on this?

I'd like to think that this is the end of it all, and the book is closed on the guessing game of whether or not she will have CF, but I don't think it's that simple. I think we still wait, we still watch, and if anything presents, it presents and we'll know more then. But I am encouraged that her sweat test is going down, and hope it continues to decrease even further when she goes back in 6 months for her 1 year follow up.


I'm in a very similar boat as you. My daughter (11 months) has two mutations and 3 negative sweat tests (all ~20). But...she's cultured pseudomonas and we now have an appointment with GI because her system is just not...right. There's a lot of unknown with this disease and while your daughter may not have classic CF she may develop some CF related symptoms or CF later in life. Also, my daughters sweat tests fluctuate...she was 16 then 22 then 14. I don't know if her sweat test going down tells you anything.

It's a hard boat to be in, but I'm grateful for the NBS and I'm glad I know that my daughter is more "susceptible" to this disease. I see lots of people who are diagnosed later in life with some permanent lung damage because they didn't have the NBS when they were younger. I view it as my mission to make sure that doesn't happen to my daughter.

Hugs, and best of luck mama2five! :eek:) I've read a lot of your posts and find them very informative and inspiring :eek:)


Staff member
I too believe 2 CF mutations = CF. DS had a normal sweat test (32) at an accredited cf center and two CF mutations.


New member
2 CF causing mutations does NOT necessarily mean CF. My daughter has 2 mutations and does not have a CF diagnosis. Most of the time 2 mutations means CF, but not all of the time. My daughter is 2 and a half and has been seen at 2 very good (CF accredited) children's hospitals in Philadelphia. Both have decided she does not have CF although both mutations are considered "disease causing". One mutations is rare and there may not be enough info about it for it to always be disease causing, but it is currently on the disease causing list. She has a CRMS diagnosis so that she can be monitored periodically to make sure that if symptoms ever arise, they are treated. At first she was seen every 6 months and now it is just once per year. The one hospital did not even feel the monitoring was necessary, but I'd rather be overly cautious than not cautious enough.
Best of luck Mama2Five! I hope your baby never gets any symptoms and lives a long, healthy, happy life : )


Staff member
With genetic screening one can be proactive in terms of dealing wcf. There are quite a few individuals both on this site and IRL who were diagnosed later on in life when symptoms began to appear. One of my friends has a child who was diagnosed at the age of 3 when her sibling was diagnosed thru newborn screening. Older child had never ever been sick. Unfortunately years later, that isn't the case.

What drives me crazy is the lack of a diagnosis when there are individuals with two mutations and obvious symptoms. At the very least IMO is that doctors would treat the symptoms. So if your child is exhibiting symptoms, then please push for answers.


New member
Yes, we go to Children's Hospital Los Angeles so it's an accredited location.

It's hard to know what symptoms look like, whether they're really symptoms or normal baby things. She cultured pseudomonas once, and has not cultured it in the 4? cultures since. She cultures normal flora, has a pancreatic level above 400 and is extremely healthy. Gains weight, has not had ONE cold is the near 6.5 months of life (which is SHOCKING considering she has 4 other siblings that have passed the cold around since September!)

I will totally remain alert and attentive, but other than that there's really not much else I can do if she's not exhibiting symptoms. She goes back when she's 1 year old, unless something pops up. She does seem to have constipation problems, and has since 3 weeks old but no one seems concerned with it so hopefully it'll just work itself out.


Hi there,
Based on your reports and the second mutation, plus the sweat tests, I would have to say this is SUPER encouraging!
I know lots of moms on this forum have strong opinions about 2 mutations, and they might scare you unnecessary (I was very scared form this forum too)...
They just don't understand that the state of California has VERY DIFFERENT process than any other state. As such, your child was genetically tested BEFORE the sweat test, so the mutations were known to the doctors.
If you are getting CRMS diagnosis in CA, then the second mutation is NOT CF causing, but unknown significance. In addition, you are reporting that the child is at 20-22 sweat test. This is GREAT!

I will try to explain what I learned. Most "normal" kids have sweat value at around 10, and carrier-kids around 15. So 20 is not super low to get you (us!) out of the woods, and the sweat can go higher in life. In such, our kids are between carriers and CF....they probably have some substantial CFTR function, between 7 and 40%. Classic CF patients typically have close to 0% working CFTR, and their sweat values are over 60 by this age (5.5 months).
The expectation is that CRMS children will remain healthy, and if they develop issues, it might be later in life. In addition, there are potentiators being tested for kids with residual mutations, so maybe there is some hope in this field as well.

My son is almost 2, and we go to Children's LA!!! Dr. Salinas will give you a very sincere and truthful prognosis! MY LO has one severe mutation, and one with unknown significance (DelF508 and 5t2tg). He has been CRMS for 2 years now. His sweat test was always around 20-22 (we have had 5 of them so far at various ages).

My son is 100% for weight and height, and he hasn't had any symptoms. We were really worried at first, what is cold, what is was very stressful for the first 10 months of life! Every cough made me email the Dr frantically! In addition, he has tested positive for MRSA and other CF at around 8 motnsh, the dr wanted to check his lungs...They found that my son carries all these bugs in his upper tract, and he wasn't infected in the lungs. He has been ok, getting colds only once a year, and fighting them off quickly within 3 days. Clearly, CF can still show up, but I don't worry as much as I used to.


New member
That is great news! Both of your LO's mutations are considered disease causing?

My LO also has two mutations. One of which has varying outcomes. He had two sweat tests. All results have been in the 14-15 range. He hasn't had another one in over a year, but I am not sure why he hasn't. He also has no symptoms. It took over a year before he had his first real cold. He was able to get over it very quickly so we were very happy with that outcome. He is almost 20 months old now. He had one borderline fecal elastase test at 4 months, but his most recent test was over 400. His diagnosis is CRMS right now, but I think his specialist still wants to consider Kalydeco. Both of his mutations are approved for Kalydeco.