Looking for a little advice on what my son could have? Negative sweat test.

Kayere

New member
I am looking for a little advice or experience from others here because I have finally reached the point where I have no clue what is going on with my child. I thought I finally was about to get an answer in CF but the sweat test came back negative today and I have no other ideas on what to do. I'm sorry this is so long but I appreciate ANY replies. I'm so lost and over my head..

My son is 2, going to be 3 next month. For the past 2 years, we have had huge issues with his health. Last year he spent 6 months of the years on breathing treatments, asthma meds, antibiotics (for chest infections, ear infection after ear infection) he'd spike a 103+ fever daily for months. His ear infections never went away with the antibiotics. The breathing treatments were every 4 hours. He had to have been on 8 different meds for months. Finally it cleared up and the breathing treatments and meds stopped but he still always has a runny nose, always coughs. When he gets a chest infection, I have to stay up with him all night because he will choke and not be able to clear his airway several times a night. His breathing treatments are starting up again this year. Its just starting to warm up and I'm already having to do breathing treatments several times a day so he is comfortable. He'll cough until he pukes up mucus almost daily.

His breathing problems are usually pretty mild compared to his digestive issues. He has had a bloated stomach and low body fat for about 2 years. He's been failure to thrive and looks like one of those starving African kids on television all the time but he actually eats more food than most kids his age. He cries about his stomach hurting daily. He's had tons of ultrasounds and they just say its all gas. He's also had scopes that show nothing is wrong. He has diahrea all the time and I don't remember him ever having a diaper that wasn't horrible smelling and liquid. The doctors say its because his bms are extremely fatty. His gi specialist insists it is food allergies. I've done elimination diets and none of the meds they've suggested have helped with his digestive issues.

A couple days ago I rushed him to the ER AGAIN... because I went to change his diaper and it was full of blood. The ER doctor looked at his history and said that she believed it was CF. I've looked up everything on it and I honestly thought I had the answer. Not the one I wanted.. I wanted a healthy child. But an answer with treatment is better than no answer. I am still waiting on the pancreatic function test to come back from that trip to the hospital.

He had his sweat test today. They did it once on each arm twice because the first test he didn't sweat at all. The second time he sweat on one arm enough for the test. So out of 4 tests, he was able to get the test run once... and it came back normal. I'm at a complete lose. I honestly feel like I'm smacking my head into a brick wall. I've been fighting for 2 years now, telling everyone that something is wrong with my son and no one will come up with the answer. I'm not sure what to do anymore.

Every test comes back normal or just off enough to raise an eyebrow, but not enough to POINT towards SOMETHING. His hemagolbin (spelling?) test came back lower than normal but not TOO low. His white blood cell count comes up high but not TOO high. He has had one test come up with swelling in the colon.. but no CAUSE to it.

Has anyone had sweat tests come back negative even though the symptoms match on an acute, non life threatening way? Like could he has CF in a way that it affects him but wont trigger the sweat test? Has anyone here heard of any other disorders or illnesses that match the CF symptoms?
 

2005CFmom

Super Moderator
So sorry to hear what you have been going through. But to answer your question, people have "passed" the sweat test and then it is later confirmed through DNA that they do have CF. Hopefully someone else will chime in here about other disorders to check out. I know some have been mentioned on other posts, but I don't know what they are.

What kind of doctor is treating your son now and are they associated with a CF center? If the doctor felt CF is the issue, maybe he should be referred to a CF center for further testing and evaluation. CF is not always easily diagnosed and if that is what is suspected then have an expert on the subject help evaluate his symptoms.

Best of luck in getting treatment/diagnosis for your son.
 

jaimers

Super Moderator
I think it's definitely worth having your son seen at an accredited CF center and having the full panel amber genetics tests run to check for mutations. There are many stories on this forum of kids and adults passing their sweat tests with normal levels but got a CF diagnosis confirmed through genetics testing. Hope you get some answers soon so your little guy can get to feeling better!
 

Ratatosk

Administrator
Staff member
Have they done a fecal fat test to determine if he's malabsorbing? Have they run any throat cultures to see if he's culturing any CF bugs such as pseudomonas, steno. Maltophilia, MRSA... My son had a normal sweat test of 32 at an accredited CF Center, yet genetic testing indicated he had CF. So I would push for more testing or referral to an accredited CF center.
 

Aboveallislove

Super Moderator
I'm so sorry mom and everything you write seems to point to cf...which sucks but with treatments he will be so much healthier. I'd echo that if he wasn't tested at an accredited cf center to have it done ASAP...I think anywhere else is not valid because it is a specialty...give him let's of salt before to help them get a good test....and also push for genetic test and the culture and fecal test because those could show a cf connection..
 

Kayere

New member
I'm so sorry mom and everything you write seems to point to cf...which sucks but with treatments he will be so much healthier. I'd echo that if he wasn't tested at an accredited cf center to have it done ASAP...I think anywhere else is not valid because it is a specialty...give him let's of salt before to help them get a good test....and also push for genetic test and the culture and fecal test because those could show a cf connection..

Does salt intake affect the test? My son is currently on an organic, no gluten, no oat diet. I make a good chunk of his meals and I put salt in none of them or very little.

I live close to Atlanta.. kinda. So I drove to their Childrens Healthcare hospital there. They are suppose to have a CF floor but I just went to the normal lab to have the test done. From what I noticed, it didn't seem like any of the techs were specialized with the sweat test and after the first one came up with no sweat, the tech went and got someone else to do it who didn't seem specialized either.

I wish I could list off all the tests he's had. They've run tons and will just say that they come back normal. This last ER visit, the doctor glanced at him and said that obviously he wasn't absorbing food right. I'm not sure if they've done a specific test to see if he has malabsorbtion or not.

I know they've tested for all the parasites and bacteria that could be in his feces. I'm not sure about the other tests they've run on it other than the pancreatic function one I am waiting on.

His specialist right now is a Pediactric gastero. Its who I was referred to after months of going into the his primary provider weekly and telling her that something was wrong and they couldn't figure out what.

I'm suppose to see him again next week to discuss the blood in his stool and the negative sweat test. I'm going to go to him with a list of the tests you guys are saying and ask for a referral to a specialist in CF to be sure. I also think I want to ask for a copy of his medical records. I have recently realized how little I know about everything that has been tested and I should know exactly what is going on so I know if anything is missed.
 

Ratatosk

Administrator
Staff member
I always request a copy of labs after each visit. That way I can see the numbers for myself and what ds is culturing if anything. As for the fecal fat test, I believe it involves collect stools for a certain amount of time, a certain way. It's been awhile since ds was tested.
 

Aboveallislove

Super Moderator
Salt intake helps them get enough sweat but doesn't make neg if cf...but as others said could have neg even with cf....it looks like it was accredited see cff.org but cf center usually have their own labs for the sweat test and they know what they are doing....so I'd try to have redone and also maybe at another center...re the culture I meant throat for stuff in lung...thr fecal will tell the fat...there are between 1000-2000 different mutations so a full cf panel would be necessary to determine if cf. a couple other things...does he taste salty sometimes when you kiss him? Do his hands get extra wrinkling fast like 3 minutes in water? A couple things that also oint to cf.
 

Julie7

New member
I agree with all comments. Strongly suggest full DA sequencing with deletions and duplications. Make sure full sequencing for 2000+ known mutations. Consider PCD...primary ciliary disk inescapable but seems unlikely bc of digestive issues. Ever considered pancreatic stimulation test done via endoscopy? Do you know exact sweat test results. We are here to help!
 

MichaelL

New member
I'm so sorry you going through this and I hope they can find out what's wrong with your son soon. Then he can receive proper treatment.

I had multiple negative sweat tests as a child. At 34, I was diagnosed with CF by a DNA test. CF symtoms can vary based on the mutations and the individual. I am pancreatic sufficient, so my CF symptoms mainly effect my lungs. I have in recent years had increased GI symptoms including gas although my pancreas still works properly. I would definitely ask for DNA testing.

Good luck,
 

athletixbc

New member
I had issues like your son and I didn't have a positive sweat test until I was 20 years old. Until that time I had many inhaled meds and antibiotics several times a year. Was told it could be allergies and went through a three year course of allergy shots during my teens. No change. After that I had the positive sweat test they sent me for genetic testing to confirm a CF diagnosis. The difference between now and when I was growing up is that they didn't have the genetic testing in the late 70s and in the 80s so my parents had to rely on the sweat test alone until genetic testing became more mainstream.

Go get a genetic test done on your son. Even if it costs out of your own pocket, it is worth it because a CF diagnosis means access to all the best specialists and in some areas access to special funding for dietary supplements and some medications.
 
M

m.coteklein

Guest
Agree with MichaelL and Athletixbc, result of the sweat test depends on the mutation(s) that one has (generally-also varies from person-to-person with similar mutations) either way, genetic testing is really the only sure fire way (and there can even be errors in that too-but that is seldom so).
 

Kayere

New member
Im not sure about the salty when I kiss him thing. I hate the taste of sweat do I've gotten into the habit of only kissing him on the nose or lips. I'm not sure why or when I started but I have no issues kissing on my other son so I'm not sure of my youngest is saltier and I've just reacted to it without thinking or not.
The getting wrinkly when in the bath thing kinda caught my attention. I let my kids play in the tub from the other room while I listen then I clean them up after they are sick of playing. Time and time again I walk in on my youngest, see him wrinkly and feel bad and think I left him in too long. After you said that I paid more attention and it takes me about 5 min to get the kids lunches together in the morning max. After doing that with him in the tub, his fingers wwrote already wrinkled.

Salt intake helps them get enough sweat but doesn't make neg if cf...but as others said could have neg even with cf....it looks like it was accredited see cff.org but cf center usually have their own labs for the sweat test and they know what they are doing....so I'd try to have redone and also maybe at another center...re the culture I meant throat for stuff in lung...thr fecal will tell the fat...there are between 1000-2000 different mutations so a full cf panel would be necessary to determine if cf. a couple other things...does he taste salty sometimes when you kiss him? Do his hands get extra wrinkling fast like 3 minutes in water? A couple things that also oint to cf.
 

Aboveallislove

Super Moderator
That is another tale-tell sign of CF. Not all CFers have it but there are studies showing that CFers have it on average after I want to say 3 minutes. "Normal" people 10 minutes and carriers 7 minutes. It is not diagnostic, but it is a sign. Our son's is after about 30 seconds and if he leaves his hands in the water more than a few minutes his hands are horribly wrinkled and really really hurt. As a result, he doesn't do daily baths and he keeps his hands out of the tub on a towel on the side and still just a little splahsing and he is crying that it hurts. Have you gotten in with another CF Center? Also, maybe call where the sweat test was done and ask who did the test, there name, speciality, etc.
 

Ratatosk

Administrator
Staff member
When I kiss DS' forehead, even just after he's bathed my lips taste salty. And he gets incredibly pruney/wrinkly if he's in the water for just a short period of time.
 

Kayere

New member
I pushed for my son's GI specialist to see him as soon as possible and got an appointment on Thursday. I'm going to push for a referral to a CF specialist based on the info you guys have given me and based on the studies other doctors have written on negative sweat tests and obvious cf cases. I've learned the past 2 years on how to make doctors realize I'm not taking no as an answer when it comes to my children so I just hope I can get an appointment with a specialist soon after the referral.
 

Kayere

New member
We just came back from his specialist and he says if it is cf that it isn't why he is having GI issues. The pancreatic test came back too positive for his pancreas to be causing his issues. His fecal elastase test came back over 500. When he said his test came back perfectly fine, I gave up the cf fight.

He gave me the test results from this last ER trip.

Alb 3.2
alt 21
cbc w hub 10.6 (that's the low heboglobin lvls, normal is 11.5-13.5)
wbc is 6.35
esr is 35
crp is 1.1 mgdl
retic is 1.0%

All culture were negative. C diff was negative.

His sweat test was 17

Next step is another scope to see if anything has changed since his heboglobin lvls have dropped since last year and his proton lvls have climbed? ( I think that's what he said)

Hes sticking with the food allergies train and says that the bleeding would just be a rare symptom of it and that the lung problems are just more typical in kids with food allergies.

I mentioned how he had thrush before he even left the hospital when he was born and that I' had to treat him for it over and over again until he was over a year old and he asked if Ethan got sick more often than other kids, which he does, so maybe he has an idea what he is looking for on the scope this time?
 

MamaCaring4CF

New member
Dear Kayere, Have been intending for some days to comment. Lord Bless you and your dear ones, especially Ethan (I believe his name?).
How are you all doing? The same? Any more answers?

Have a few thoughts to share. Use your instinct & physicians---these are just my thoughts and may not be right for you and your son.

I feel very strongly that so far (going by April comments), Cystic Fibrosis has not been completely ruled out.

1) Begin using Celtic Sea Salt in your son's diet. (when you use sea salt, please make sure there he is taking a daily multi-vitamin *including iodine* that he needs). (You can get Celtic at local healthfood store, or order online, including Amazon. You want FINE GRIND, not coarse grind.) Sprinkle on his food to-taste. When he drinks a good amount of water, you could give him a small amount to suck on, then wash down with the water (eg. 1/16th teaspoon salt with 8oz water). Harder to find small measuring spoons, but they exist. (Amazon for me.) The human body NEEDS water, and salt (natural salt)---that is EVERYONE. (IF IF your son has Cystic Fibrosis, then he loses more salt than average when he sweats.) Please try it; he could be deficient (reminder--my unprofessional opinion). That's Celtic Sea Salt, fine grind.

2) Your son's symptoms are "classically Cystic Fibrosis." Can you get an appointment with the doctor at the nearest ACCREDITED CF clinic? If they won't schedule you, can you phone until they connect you with the RN at the clinic and talk to them, so that you can tell them your history, and that you need an experienced Cystic Fibrosis physician to rule out CF? Wouldn't they HAVE to get you connected with the doc? It seems irresponsible otherwise. Given their field, it seems they cannot leave you hanging. ...If that doesn't get you anywhere, does the Pediatric Pulmonologist who runs CF clinic ALSO RUN A PULMONARY CLINIC, where you could get into more easily, and get in front of them? Or perhaps another Pediatric Pulmonologist who does see some CF patients (you can ask their office).

3) The sweat test should be correct, but there are testimonies of several CF'ers whose tests were not. That fact, in addition to your sweat test being problematic, makes those results sound questionable.

4) Genetic testing SHOULD be accurate as well, and is likely to be (as ordered by accredited CF clinic). (Is Ambry Genetics commonly used??) FYI, our son had positive sweat test, and genetics: one copy of Delta F508, and 2nd copy is NOT IDENTIFIED! So there ARE genetic markers that are not common/identified yet.

5) Referencing throat culture: I asked at clinic how another physician would order the throat culture we routinely get at clinic. She said, "gram stain & culture." Then you would want them to tell you what bacteria (if any) grow. (Ask how long it takes for all test results to be final, and get the final results).

6) You wrote “He has diahrea all the time and I don't remember him ever having a diaper that wasn't horrible smelling and liquid. The doctors say its because his bms are extremely fatty." Did the doctors know, or guess this? If your son's stools are fatty & smelly, that is classic CF symptom, which requires the aid of (prescription grade) enzymes. Our favorite so far is Zenpep (I know some people are fine on Creon, but our son had bloating/pain). If it's a fact that his stools are fatty, that trumps the pancreatic test results, and something has to be done.

7) You mentioned ears and runny nose. If a physician looks up his nose, do they see polyps? CF commonly causes sinus polyps (although there can be other causes as well!!). Our son has chronic cf-related sinus.

8) Summarizing some of your symptoms (hope I catch them) to tell the CF clinic or Pediatric Pulmonologist, for the purpose of ruling out CF: **chronic respiratory illness, chronic digestive illness, failure to thrive (underweight), chronic cough, excessive mucus coughed up, significant gut pain (cries), ill more often than average, repeated antibiotic treatment for infection, runny/foul-smelling stool, doctors quote: fatty content in stools.**

May the Lord Bless you with the help you need for your son, and bless you in your tasks.
I share this in the name of Jesus -- may it give only help and not harm.
 
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