First time poster - questions!

slk317

New member
Hello and happy thanksgiving everyone! I'm a first time poster and have some questions, could use some input/advice! I'll try to keep this short...

I have three sons. My middle one has always been the "sick one", although nothing really serious. Most of the time we chalked it up to allergies/sinus issues or there was no real explanation. A couple months ago he started waking up in the early morning hours feeling sick to his stomach and vomiting mucous. No food, just clear mucous. We thought maybe he was having post nasal drip, or something similar, which was causing his nausea as well. He was also feeling sick throughout the day, and would ask to come home from school alot. I kept telling him he couldn't come home due to something as minor as that, and would make him stay. We took him to the ENT, thinking he'd tell us it was allergies. Instead, he found nasal polyps. While he told me it's not impossible for a kid to have these, he said it's very uncommon in "healthy kids" and recommended we get a few things done: allergy tests, pediatrician thorough exam, CT scan, and sweat test. Of course, I went home and googled CF and started freaking out immediately. This was a month ago. Below I'll describe what we've been through and the results since then.

Allergy tests - Negative. He was tested twice, both times they came up with nothing. This was shocking, since we've been treating him for allergies all his life.

CT scan - Luckily, he has no other polyps, and the nasacort he's been taking is shrinking them down, so as of right now, no surgery is needed. What the scan showed was that his sinuses have a thick wall of mucous around them. I guess this isn't normal...

Pediatrician - We just moved to this state 5 months ago, so he didn't have one yet. So this was a first time visit and I feel so lucky I found her, she's the best doctor my kids have ever had! She was very thorough, asked a million questions about his history and did an exam. And I wasn't expecting what she found. It appears his body is going through puberty in different stages. Certain areas appear to have not even started, while others are much further along (she called it stage one/stage 3). So she ordered a bone age scan.

Bone age scan - Wasn't too bad, was found to be about a year behind. He's 14 1/2, it came up 13 1/2. She spoke to a pediatric endo who gave her a list of what to get checked through labwork.

Labwork - All hormone levels came out good, nothing alarming. Still waiting to hear if the endo still wants to see him. She can't get him in until January, so we'll see what she says.

Sweat test - So as a lot of you know, I'm sure, this was a very nerve-wrecking day. I've done a ton of research about CF, so I knew what to expect and was hoping for low numbers. And yes, it was at a CF-accredited center, done by a woman who's been doing this her whole life! I felt confident in her. His number came back at 41. Borderline. Ugh. We waited two and a half weeks, and two days ago he went back for sweat test #2. He got a 42. Ugh.

So my question is, now what? With it being the holiday weekend, no one is around until Monday. She told me she'll talk to the dr, and there's a couple options he may suggest. Wait 6 months and do another sweat test, or come in to see the CF doctor, go through his whole medical history, and order genetics testing. I'm trying to stay calm through this whole thing, but it's hard!
 

Angela070604

New member
Same time of year 6 yrs ago I was going through this with my daughter. I totally understand what your going through. Even if the diagnosis is CF or A-typical, as we had our diagnosis with similar issues and sweat test that turned out to be a-typical, it will be a good thing. Because you will be under the right treatments and follow ups with the cf teams. I felt the same as you in the beginning but now she’s doing well and i am comfortable with the care we are getting. All the concerns of never knowing are relieved because now we have answers.
 

slk317

New member
What does a-typical mean?
And what is genetic testing like? I know it’s a blood test, but is it extensive? How long does it take to get results? We’ve been going through this for 6 weeks, and are no closer to an answer! What are the odds he could have it with two borderline numbers that are so low?
 

Angela070604

New member
I’m not an expert on this but my daughter had two borderline results then a positive. They are A-typical because their genetic tests are not the most common genes. They were clinically diagnosed according to their symptoms and genes. The blood results took a while. I don’t remember exactly.
 

emason

New member
Next step is Genetics for sure. My son has two mutations but a low sweat test (negative actually!) and has a diagnosis of CRMS. We found out I was a carrier when I was pregnant with him. At that time they had my husband tested and he also acme back as a carrier. I did my homework and realized that the mutation my husband carries was very rare and is considered mild (there is still debate over whether it causes CF or not) and that the sweat test numbers would likely not be positive even if he had both mutations so our pediatrician just went ahead and ordered a FULL genetics panel - that's key here - you don't want to do a basic panel where they only look for the most common mutations. You want the more extensive screening as there are SO MANY mutations out there and the most common panel only checks for something like 23? Anyhow, His full panel took about a month to get results back from and yes, he had both genes. Since his sweat test is negative he is NOT diagnosed with CF at this time..that could change though if ultimately meets clinical diagnostic criteria. BUT despite not having a full diagnosis, he is seen at a CF clinic every 3 months and monitored closely. He has some sinus issues, some mild pulmonary stuff that is more in line at this time with reactive/sensitive airways and some mild GI stuff but nothing too daunting at this point. I think you have enough reason to suspect mutations may be at play here to push for a full genetics panel! Good luck and know that even if the genetics come back with mutations it's something he's always had and now you can at least focus on correct treatment and that's really much better than not knowing!
 

slk317

New member
Just a quick update...

My son met with the pediatric pulmonologist at the CF center here on Monday. We're waiting on insurance approval for genetics testing, which I was told might take up to a month due to the holidays. Ugh
Meanwhile, he ordered xrays of the lungs, which we just got the results back for today. They said it shows "mild peribronchial wall thickening" but was told it didn't look like anything to worry about. They said it sometimes is found in people with asthma (which my son does not have). I'm a little concerned because when I googled it, since I've never heard of it, it looks like it means mucous being found in the lungs. Isn't that basically what CF is (in very basic terms). They also had my son give a stool sample, but they said it could be 2 weeks before we get the results back from that. It seems like every time we get a test done, it's pointing to CF, but there's always room for just a bit of uncertainty. They also had him do PFTs. A little confused on that as well. Dr said he did great, between 95-100%, but the paperwork I received shows values between 85-98%, but I have never read one of these to know what to look for exactly. So now it's just more of a waiting game. So far all we know is he's got mucous lining his sinuses, mucous in his lungs (mild), he's small for his age and may or may not have hormone issues based on what the pediatrician found, nasal polyps, and 2 borderline sweat tests. Two months in and I feel like we're no closer to a diagnosis. This waiting is not easy...
 

kenna2

Member
If your son does have CF then he also has asthma...they kinda go hand in hand and are treated with the same medications. The severity of it depends on him of course.
 

slk317

New member
If your son does have CF then he also has asthma...they kinda go hand in hand and are treated with the same medications. The severity of it depends on him of course.

Yes. What I meant is he’s never been diagnosed. They always say they don’t hear wheezing. I know nothing about asthma, so not sure how else to have it checked.
 

emason

New member
Couple things. First is that with PFTs, remember there is a learning curve and if this was his first time then I wouldn't be surprised if those scores were low estimates. The number that people use when they are referring to their lung function is going to be FEV1 so that's the one that you should be looking at and may have been the value that was 95-100? As for the asthma thing - Did they do the PFTs and then repeat after Albuterol? An increase in FEV of at least 12% would indicate asthma. There are also some ratios that are indicators but I don't recall those off hand. But again, if this was his first time keep in mind he will very possibly get better at them over time too.

The other thing I wanted to point you to was CRMS - Why I say that is because CRMS is used a lot in the US when there are genetics and a borderline sweat. Considering his sweat it might be something to familiarize yourself with - the link below has a nice concise explanation. Either way - I hope they continue to see him at clinic until you have more answers because with a borderline sweat and nasal polyps I think it's very likely that there is some level of CFTR dysfunction and definitely enough reason to warrant a FULL genetics panel for CFTR mutations.

https://www.uwhealth.org/healthfacts/parenting/6990.pdf
 

slk317

New member
Thanks for your input. His FEV1 shows Ref - 4.00, Pre - 2.69, 90%. They did not do anything with albuterol, or any other kind of treatment. The dr did mention CRMS. Basically, if I understood him correctly, even if he doesn't end up with CF, he will be treated for that, and visit the CF center once or twice a year to keep up with him. I guess there's so many factors pointing to it, that we just need to continue to be cautious. One more thing that the dr did I forgot to mention, is a throat swab. I think we'll get those results the beginning of next week. Hoping that can give us more answers as well. This is so confusing, so much to learn, and I've been doing all kinds of research, teaching myself. It's just hard, especially days like yesterday, when my son called me to get him from school because he was sick with diarrhea and a cough and just went to bed. I hate not knowing what's wrong or how to fix it.

As far as the genetics goes...I did ask the dr how many mutations the genetics panel would test for. He said typically the insurance company will only approve of the more "basic" panel, which covers about 100. He said if that all comes back negative, they'll go back to the insurance company to request the full panel. I'm going to assume that's what's going to happen, it seems to be the way things are going with us these days...
 

kenna2

Member
I know this is a hard and stressful time for you. The good news is you're seeing the right people to figure this out! Keep us updated so we can help you through this process and answer any questions you have.
 

emason

New member
A lot will probably come down to the genetics panel. I'm sorry they can't do the full panel straight away but hang in there. Hopefully there will be answers soon.

CRMS kids do stay under clinic care as well - and yes, they typically are seen 1-2 times a year minimum (that's if there are no ongoing issues and more if there are). So if that is ultimately the dx he should be well taken care of too. My son has a CRMS dx and we go to clinic quarterly and they have us with an ENT too so you known, while the diagnosis isn't quite the same as CF, you still will have access to the right people and at the end of the day that's the most important thing for keeping these kids healthy!

The throat swabs are done at each clinic visit. Don't panic right away if something shows up on it. Kids can culture all kinds of things and a lot of the more common things to come up are not really worrisome and/or EASILY treated by antibiotics. They will be looking ot see if there are any CF specific bugs that come up of course but not everything that comes up on a culture is an indicator of CF.

Good luck and keep us posted!
 

slk317

New member
Another frustrating day...my son has been sick since Wednesday, although nothing too bad. He came home Wednesday early from school with diarrhea and a cough. Seemed to be getting better, now today he's been sick since he woke up. Throwing up mucous, nasty ongoing cough and can't get out of bed. Since we're still waiting for a bunch of test results and a formal diagnosis, I feel lost as to what to do. I did call the pediatric pulmonologist/CF clinic to see what they recommend, since they just got his xrays back last week and have his whole history. Hoping for a good recommendation to get him feeling better. We're also supposed to get his throat culture results today or tomorrow, maybe that can give us some sort of answer as well...hating that my boy is sick and feeling helpless!
 

slk317

New member
Quick question...nurse from CF center just called with throat culture results...his culture grows staph, I have no idea what this means??? Could someone please explain to me in layman terms?
 

emason

New member
[FONT=&quot]Staphylococcus Aureus is an incredibly common thing to show up on a throat culture. Usually clinics don't treat unless they feel the person is symptomatic. Even a large amount of people without CF carry staph so nothing to be overly alarmed about. If they feel he IS symptomatic they may prescribe an antibiotic. [/FONT]
 

slk317

New member
Well, timing isn't great. The doctor DID prescribe antibiodics. Not sure if it's because of the staph, or because he's currently sick, or more likely for both reasons. Hoping it clears up whatever infection he's fighting, poor kid hasn't been out of bed all day. Thanks everyone for all the help you've given so far. I'm sure there are more questions to come as we try to understand all of this. His stool sample results should be coming by the end of this week or next (testing for malabsorption). He's lost 3 pounds in the last month, which worries me, and he's sick to his stomach all the time, so definitely curious about this test...
 
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