newborn atypical cf...gas and moucous in

[julieta79]

Hi there...my 2 months old has a del f508 and 5t 12 tg which may or may not cause atypical cf....his sweat test was 20 so we have to wait and see if he gets symptoms...
So far he has painful gas at night and it takes him an hour or two to poo...and also I can hear his little nose has some minor blocking as he is snoring and the mucus is deeper in the nose so I can't pull it out with syringe..he feeds well so the blocking must not be too severe...
are these first signs of atypical cf? His skin is not salty and the cf doc never notified me of any abnormality in his poop test so I assume he might be pancreas sufficient...he is gaining weight nicely and is 12 pounds already..
please let me know how would I recognize mild symptoms this early in life?

 

[Ratatosk]

2 mutations equals cf. add to that typical cf symptoms... Mucus, sinus issues. Ds issues are mostly digestive and sinus. We've done cpt and Nebs since he was a few days old to keep his lungs clear People wcf are born with normal lungs.

 

[julieta79]

He does not have two mutations, but one mutation and one so called variant so the chloride channel partially work

 

[Printer]

Julieta79:

How many mutations was he tested for?

Bill

 

[Ratatosk]

I'd ask them to do a fecal fat test and run a culture. Ds was always in the 50th percentile, but had frequent loose stools, pancreatic insufficient. And his nose never ran , mucus was too thick. I have a friend whose child has a normal mutation and variant. His clinic treats him for cf

 

[julieta79]

California does the Ambry test on every newborn once they find one severe mutation...hence that's how they found the 5t...since his sweat test was normal he doesn't get cf diagnosis until he shows symptoms or sweat test becomes borderline...for now he is crms...he had fecal test and I was told I would get a call if the results are abnormal but I haven't and this was 4 weeks ago...same with culture test...I hope to believe these were normal so far...so for now my job is to look for symptoms and I just don't really know what is normal or abnormal since this is my first child

 

[Ratatosk]

IMO, you need to request copies of the test results. I've gotten phone calls from the clinic indicating DS' cultures were fine, only to read the physical report with doctor's notes later on to find he's culturing something. As for sweat tests, despite my child having two mutations, he had a normal 32 for a sweat test. It's very difficult to get a good sample on infants.

 

[ByGrace]

My son has the exact same mutations. He was just diagnosed 2 years ago, at the age of 7, because of chronic constipation. I can't speak about seeing early signs of any respiratory issues, since we haven't dealt with that, but I would encourage you to watch his bowel habits. If he has issues with constipation, and it isn't treated early enough, it can become a vicious cycle that's hard to break and is painful for your child.

 

[julieta79]

Hello ByGrace
Thanks so much for your response. Since your son has exactly the same mutations, I was very interested in your experiences (even though everyone has different presentations)...
Is your child PI, or PS? Does he take enzymes? Does he do normal CF treatment with the vest etc? How do they treat constipation in his case?

I will vigilantly watch the constipation issue...I assume he had a severe case...my baby so far has painful gas and bowel movements, but he seems to be regular...of course he is only 9 weeks old...so many things can develop and I need to be on the look-out
Thank you for your help!

 

[ByGrace]

The doctors tried so many things to control DS constipation. He is on a regimen of Miralax 2xs daily, plus timed toilet sitting times. This has made it better, but he was still pretty backed up. His doctor has never ordered a fecal fat test, but she decided to try an "experiment". She put him on enzymes to see what would happen. Her theory was, if he gets better we'll know he needs them, but if he has an adverse reaction then he doesn't. Not very scientific, I know, but I figured it was worth trying. They have haven't been the magic bullet, but his constipation has improved some. His doctor sees this as a positive response and increased his enzymes. She's never "said" that he's PI or PS, but I'm assuming he's at least slightly PI (if that's even possible), if the enzymes are helping. He still takes Miralax as well, and probably will indefinitely.
As far as other treatments, his doctors don't seem to think it's necessary right now. He is seen at an approved CF center and his pulmonologist sees him twice a year to track his respiratory heath and does blood work once a year to check his vitamin and mineral levels. He's underweight for his age and they assume this is because he isn't absorbing everything from his food. Since he's been on the enzymes he has gained a good amount of weight though.
As far as what to watch for concerning constipation: I didn't notice any issues that seemed out of the ordinary until about 3 years old. He started having infrequent bowel movements and when he did they were very large. I never considered him constipated though because he was always having what I thought were accidents where he would soil himself. It turns out that, that was actually a sign of constipation (search "encopresis" if you're interested).
If there's one thing I've learned from this forum it is to be proactive. I completely realize that my son's CRMS is not as severe as full blown CF, but it can be progressive and I don't want to be caught off-guard if something were to develop. I watch him closely for the beginnings of any respiratory issues.
One more piece of advice. Since your son doesn't have a diagnosis of CF on his medical records yet, this might be a good time to consider a life insurance policy for him. It's my understanding that once they have that diagnosis, it's harder to get insurance. We got a whole life policy for our son that can be kept and increased (regardless of health) as an adult. It's not something I like to think about, but I thought he might appreciate it once he is an adult with a family of his own to consider. If his condition ever gets officially changed to CF, he'll be covered.

 

[julieta79]

Thank you so much for the detailed response ByGrace. Your comments are so informative, and I will definitely look at the life insurance issue. It seems that our children have a very unusual combination, so it is hard to find information to this specific combination. I appreciate your response very much

 

[LittleLab4CF]

This is just a guess but my CF was labeled “atypical” because like your baby, I am genetically a carrier. In my mutation, s1235r, there is a supporting scientific study confirming that heterozygous or single copy presence of this gene can cause clinical symptoms of CF with GI symptoms being dominant.

As Printer noted, a full screen of about 2,400 mutations needs to be done to eliminate any possible mutation on the second copy of that gene. Ambry actually has a wide range of tests and sets of tests, all focused on possible presentation of CF or CF like genetic mutations. The Spink 1 is now pretty common to be included in a CF test but only recently has Spink 1 been included as causing CF since it is in a different location than the set of CFTR gene mutations.

Genetics is something you need to keep an ear open for any genetic drug treating your baby’s mutation, but that is all. Forget atypical, forget carrier status and for certain tell the doctor to let you know when a genetic drug specific for your child is available, and until then you don’t need to hear about it. Your baby is sick and probably the thick mucus found in the head, lungs and digestive tract is behind it. Treat the symptoms and forget all the mumbo jumbo of confirming CF. It is a waste of time and effort in my experience and a lot of others on this site.

LL

 

[Beccamom]

I agree with LittleLab4CF,


Treat the symptoms. Your son already has a stuffy nose. Is he in daycare? Does anyone around him have a cold? A sure sign my daughter and my allergists were wrong that our stuffy noses were allergies is when we are stuffy. We start our worst conjestion around November as soon as cold and flu season begin and end around April the opposite of seasonal allergies where we live. I am now always conjested, but definately worst in the winter. My non-CF child gets stuffy from the first day we mow the lawn until we stop mowing with April to June being the worst. I know your son is very young, but watch for a trend in the future.

 

[CrisDopher]

This sounds like CFTR-related metabolic syndrome. If you can get this diagnosis, then you should be seen regularly at a CF center to help handle the CF-like aspects.

 

[LittleLab4CF]

Cris,
What is the current genetics/clinical presentations that defines CFTR-related metabolic syndrome? How does this compare to a CF diagnosis? I haven't looped around recently to see what the fallout over sick CF carriers vs homozygous CF patients with genetic as well as clinical presentations.

LL

 

[mommyscienceteacher]

Daughter with Delf508 and 5T

Hello!

My daughter has the exact same mutations as your son (Delta f508 and 5t). I haunted these forums and everywhere else I could find to learn as much as I could. I do want to warn you to be really really careful with what you read online! I needlessly TERRIFIED myself by doing that. Each child and case is completely different, and I often find that if you do not have experience with specific mutations, you can't really speculate to others. I am a carrier of delta f508 myself and have very VERY mild symptoms, mostly GI related. I cannot speak to Double Delta f508 because I don't have experience with it, so be wary of posts from others that may not understand your son's specific mutations. My daughter inherited my gene and the TG12/5T from my husband. I teach genetics and my mother is a research librarian, and the second we got my DD's genes, we were researching medical journals and actual textbooks. My daughter has had all the tests (20 and 21 on sweat tests, pancreatic enzymes normal) and goes to the CF clinic twice a year just to get checked on and I can share my experience and what we've learned

Here's what I have found through my research and through talking to many doctors: Your child does not have full blown CF if he was diagnosed aytpical. What's weird about this specific mutation combination, is that it is really like a mutation and a half. 5t is considered a variant mutation because it CAN cause full cf when combined with the RH117 mutation, and MILD MILD atypical with combined with a classic mutation like the Del f508. Aytpical cf is a term not used as much anymore because many people prefer the CRMS diagnosis (myself included). CRMS is not a diagnosis of CF, the cff.org has a great section on explaining it. What it means is, you child will be mostly healthy with the POTENTIAL for MILD issues later. My doctors explained mild issues means maybe more sinus infections, maybe need an inhaler or a few breathing treatments when they get really really sick, possible mild GI issues. It might also be easier for something like the Flu to turn into pneumonia if you ignore things for too long. Boys with this combination can sometimes have infertility because they do not grow a Vas Defrens (the tube cut during a vasectomy). Our geneticist explained that if we do ever have a son with this combination too, that he can still have children, but would have to do artificial insemination. No affect on lifespan of the child. Not that scary.

The likelihood of developing the atypical symptoms can depend on the TG tract number, my daughter is TG12/5T. TG11/5T is the least likely to cause mild symptoms, whereas TG13/5T is more likely. So far my daughter is extremely healthy She's four months old and has been healthier than me! Haha! I exclusively breastfeed to help her immune system, and she sometimes has some of the symptoms you are describing. I have taken her to the doctor freaking out that she had nasal congestion or tummy pain, convinced it was the cf, and my doctor laughed and told me to relax. She gets nasal congestion from the AC being on constantly. She also every once and a while will not poop for a day or two, seem to have tummy pain, and then blow out. My doctor said that babies just do that, their digestive systems are still developing. I would talk to your doctor if you are concerned, but my experience so far (as a new mom too!) has been that I just don't know what babies do! Normal or atypical cf!