My son is 3 years old and has a single r117h 7t gene. at 3-4 wks we did the sweat test and it came back normal around 14. At the time I never thought he was salty tasting. we actually didnt even know he was a carrier until a year and a half later when we continued to have loose stools and I came back to having to do the sweat test and requested the documents of his newborn screening. Suprise to me, I did not know that my state automatically tested for common mutations after a high IRT level. Fast forward and over the last 2 years he has seemed to taste saltier and saltier. So much so that if he sweats at all its like licking a potato chip and if he is playing outside during the summer he will develop dried salt on his neck and dust in his hair. he has had 2 episodes of croup and always has his colds longer than my 2 girls and his coughs from it are always super junky. We went to the zoo in 80 degree weather for about 5 hrs ( he didnt walk the whole time) he had plenty of water but was covered in salt at the end and when we got home he was super emotional, complained of his legs hurting and made me carrier him around for 30 mins (not like him at all) as well abd discomfort. I am worried that he may have a rarer mutation too and because of the r117h he wasnt "sick enough" at one month to have a positive test. the genetic screening seems to be around 3K which we cant do right now, do you think it sounds like he would test positive for the sweat test if we tried it again, and how can I get his doctor to order a repeat if he's never been super sick? I am a nurse and usually let the kids cold and such run their course so our doctors almost never see my kids.
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R117H, original carrier diagnosis but should we retest?
- Thread starter aphillips
- Start date
I would ask your doctor to do a repeat sweat test being he's so salty. If your doctor refuses, ask him to put that in writing in your son's chart then walk, if not run to a new doctor. Something is going on with your child, you'd like to figure it out, if it's not cf, then what is it.
DS at 3 weeks had a normal 32 for his sweat test, but as he grew he became saltier. His genetic testing results, which tested for only the most common mutations came back as dd f508. At least with a repeat sweat test, you could start the process. I would also ask them to run throat/sputum cultures to test for common cf bugs -- pseudomonas, steno malt, h. flu, mrsa....
DS at 3 weeks had a normal 32 for his sweat test, but as he grew he became saltier. His genetic testing results, which tested for only the most common mutations came back as dd f508. At least with a repeat sweat test, you could start the process. I would also ask them to run throat/sputum cultures to test for common cf bugs -- pseudomonas, steno malt, h. flu, mrsa....
Aboveallislove
Super Moderator
I agree with Ratatosk. Before talking with the doctor, though, you might try to pull some info on R117 to show that it is a "mild" mutation and that symptoms might not show up until later for that mutation, which would mean that even if the second mutation (if there is one) is more severe, that that is why DS isn't yet showing lots of issues. IF he does have CF, Kalydeco helps fix R117 and thus he'll be in much better shape.
I know it's a milder gene and I am incredibly thankful for that though it does make me sad that it has a high chance for my son to be infertile. I am most concerned with how important it is to do prevenative treatment and having a milder gene tends to delay diagnosis and treatment. Even the milder genes can cause CF to spiral downhill fast when they're older. Will he grow bugs if he's never been super sick before? He does not have a chronic cough. And the dried salt on him is not normal right? I keep thinking I'm just paranoid but neither of my girls, me, or my husband have ever had the regardless of how much or how long we've sweated.
Aboveallislove
Super Moderator
I don't think you are being paranoid. You know there is one mutation and with the high IRT levels that's a sign of CF. So I think it makes sense given the extra saltiness you are noticing for retesting. (It is one of those "you know it when you taste it" things that doctors might not get...but me kissing my son is totally different than me kissing my husband for that immediate taste of salt on your lips. And I'm sorry if it sounded like I was telling you it was mild, like you should be thankful...I didn't mean that at all...I meant that a lot of doctors don't "get" CF and think if "healthy" they can't have it so I meant it might be helpful to bring stuff to show the doctor that with one R117 gene, even with a second severe mutation, the presentation is often later in life...but I wouldn't wait. If he has CF, I'd want to be proactive now and with Kalydeco and later 661/Kalydeco, it could prevent the need for other daily and more burdensome treatments and prevent any decline later. And I too know how the infertility aches a mothers heart....Hugs and prayers,
Love
Love
I agree that you should have a repeat sweat test and an evaluation from a CF doctor. Make sure it’s at an accredited center. Here’s a link to help you find CFF accredited centers in your area: https://www.cff.org/Locations/FindACareCenter/
To put your mind at ease a little while you wait for test to be done, I wanted to mention that my daughter, who is 12 yo, is a carrier and has salt crystals when she sweats. She has asthma and a history of a few bouts of bronchitis when she was younger. We have to start nebulized Xopenex at the first sign of a cold to prevent her from needing prednisone. She also seems more affected by the heat. I became very worried about 3 years ago when I noticed the salt crystals after one of her soccer games. I only notice it when she sweats extensively. I have CF, so I knew she was a carrier; but I became concerned that my husband’s genetic test done 15 years ago wasn’t comprehensive enough since so many more mutations have been identified since he was tested. I made an appointment with a pediatric CF center and had her evaluated. She had pulmonary function tests, a sweat test and a visit with a CF specialist. Her sweat test was normal (11 and 14). Given her history, the pulmonologist wanted her to have a genetic test as well because it is possible to have a negative sweat test but have 2 mutations and a diagnosis of CF. I had her test done by Ambry Genetics, which offers the most comprehensive test available, called the CF amplified test. I think Quest now also offers this test. It was covered by my insurance. As you mentioned, it is a very expensive test, so hopefully it would be covered by your insurance given his carrier status and symptoms. You could probably appeal if your insurance denies coverage.
The test came back that she is a carrier for DF508. I do think that carriers of CF can have mild symptoms. My mom has had chronic sinus problems since she was young and my nephew, who was tested for CF and is negative, has had pancreatitis (associated with my other gene, r334w).
I hope you’re able to get everything figured out soon because I know how difficult it is waiting for answers.
To put your mind at ease a little while you wait for test to be done, I wanted to mention that my daughter, who is 12 yo, is a carrier and has salt crystals when she sweats. She has asthma and a history of a few bouts of bronchitis when she was younger. We have to start nebulized Xopenex at the first sign of a cold to prevent her from needing prednisone. She also seems more affected by the heat. I became very worried about 3 years ago when I noticed the salt crystals after one of her soccer games. I only notice it when she sweats extensively. I have CF, so I knew she was a carrier; but I became concerned that my husband’s genetic test done 15 years ago wasn’t comprehensive enough since so many more mutations have been identified since he was tested. I made an appointment with a pediatric CF center and had her evaluated. She had pulmonary function tests, a sweat test and a visit with a CF specialist. Her sweat test was normal (11 and 14). Given her history, the pulmonologist wanted her to have a genetic test as well because it is possible to have a negative sweat test but have 2 mutations and a diagnosis of CF. I had her test done by Ambry Genetics, which offers the most comprehensive test available, called the CF amplified test. I think Quest now also offers this test. It was covered by my insurance. As you mentioned, it is a very expensive test, so hopefully it would be covered by your insurance given his carrier status and symptoms. You could probably appeal if your insurance denies coverage.
The test came back that she is a carrier for DF508. I do think that carriers of CF can have mild symptoms. My mom has had chronic sinus problems since she was young and my nephew, who was tested for CF and is negative, has had pancreatitis (associated with my other gene, r334w).
I hope you’re able to get everything figured out soon because I know how difficult it is waiting for answers.
I just wanted to share that my son has 2 mutations and passed his newborn screen (irt was a few numbers below the cutoff) and has had 2 negative sweats (15 at 7 months and then 18 at 1 year) - but we still are followed by a cf clinic. We only know he has the mutations because I was tested during my pregnancy and came up as a df508 carrier so my husband was tested for the larger group of mutations and found to have a rare mutation. When our son wasn't flagged by the newborn screen we were relieved but we also knew that my husband's mutation was "mild" - and so to be thorough we had a genetics test done on my son when he was 6 months old. Unfortunately we learned them that he actually had inherited both genes.
Despite not having "clinical presentation" - My son has been sick a lot. He's almost 14 months and has had croup 3 times, a sinus infection, 2 mild/early lung infections and numerous other illnesses. He has cultured a bunch of stuff too including staph & A. Baumannii.
My point is that a negative sweat isn't always definitive. I think you have a valid concern. I also think that even if your son had another negative sweat you may still want to consider genetics testing. It is the ONLY reason we are on the cf radar so I'm am advocate of covering all the bases.
Despite not having "clinical presentation" - My son has been sick a lot. He's almost 14 months and has had croup 3 times, a sinus infection, 2 mild/early lung infections and numerous other illnesses. He has cultured a bunch of stuff too including staph & A. Baumannii.
My point is that a negative sweat isn't always definitive. I think you have a valid concern. I also think that even if your son had another negative sweat you may still want to consider genetics testing. It is the ONLY reason we are on the cf radar so I'm am advocate of covering all the bases.
To reiterate what emason stated ds was born with a bowel obstruction and while recovering in the NICU from the surgery, a sweat test was conducted at 3 weeks and it was normal (32); however, a local doctor suspecting cf had sent in blood tests which at 7 days showed two copies of delta f508. His cf doctor later explained the people wcf are born with normal lungs; however, due to the extra thick mucus, infections, etc. eventually the lungs will become affected. His primary symptoms have been digestive and sinus (congestion), otherwise his baseline was/is no cough. And while he had no cough, at 3 months, he cultured pseudomonas, a common cf bug. We were also told tiny babies don't necessarily sweat enough for a sweat test. A few months later, when I kissed ds' forehead, my lips came back tasting VERY salty, so I suspect a sweat test today would have much different results. Keep pushing for answers.
Thank you for all the replies! We have an appt next week for his preschool physical but its with my Drs PA, who I've never met. And we just moved to this office and have only seen the DR the one time. So I'm really hoping I don't get them thinking I'm a crazy paranoid mother. Wish me luck! I wish I could post pictures because he only spent an hour playing outside today and there was already dried salt in his hair.
Hi, I think you should definitely retest. I am not sure where you are from, but I am from Australia and my son has the R117H-7t gene with Delta F508 so I suspect we might be in the same situation. My son's IRT tests were high, so we were sent for a sweat test which he returned a high normal result. We were told he didn't have cf but they still gave us genetic testing which then changed to diagnosis to yes he has a mild form but this particular combination was described as being the grey area of the grey area of CF diagnosis which was of no comfort to me! Basically they told me that they can not predict what will happen in the future as he may or may not develop symptoms over the term of his life, but the best that can do is continual monitoring. My son is about to turn 2 and we go to the CF clinic in Sydney regularly and they do full testing and check everything is going fine and give us advice as to what to look for if something does start developing. As your son sounds like he has the same combination, I would recommend that you do push the issue.
The PA was great and was totally accepting about my concerns so we will be scheduling another sweat test soon. Unfortunately she detected a murmur and wants us to get that checked out first. I have a harmless murmur as well so I'm assuming its hereditary unless It could have something to do with untreated salt loss.
Aboveallislove
Super Moderator
That's wonderful that she was receptive and will order another sweat test. Re the murmur...so sorry for an added worry, but if you have likely heredity as you said, but better checked out first! DS had the same issue at his one mont check up...two weeks after cf diagnosis and we were in a panic as we had no known family issues and still very fragile from the diagnosis. Luckily our gp was amazing and talked his friend a pro into checking it out on his lunch hour and we got in within days. It ended in p being a small hole in the heart that won't cause problems until he's 70ish...and the. Possibly linked to strokes. Found out after my dad has it as he had several strokes! But well gladly wait until he's 70 to worry about that! Hope it is similarly uneventful! Please do update when you can.
The PA was great and was totally accepting about my concerns so we will be scheduling another sweat test soon. Unfortunately she detected a murmur and wants us to get that checked out first. I have a harmless murmur as well so I'm assuming its hereditary unless It could have something to do with untreated salt loss.