Waiting for results!

[Gibson75]

I am new to this site and just wanted to find out if you can have a negative sweat test but still have CF?

The reason I ask is my 7mth old boy screened positive for D508 at birth. He also had an elevated IRT on his screening at birth. I am a carrier of D508, as is my older daughter (10). My neice was diagnosed at 6wks and is now 10. She has two D508.

My baby boy has been wheezy/rattly in the chest since birth (They kept telling me his muscles in his throat were still developing). He has always had a cough, which if you weren't his mum would never have noticed. He might cough half a dozen times in the morning but as he is getting older it has become worse. He gets a lot of stomach pains and has either chronic diareah or is constipated. It is not very often he has a normal poo. His diareah is that bad that he has a full clothing change. He has been putting on weight and is a healthy 8kg. He has always been a very hungry baby and eats a lot of solids and is still breast fed. When he was six months he went to hospital for bronchiolitis. He is being seen by a CF clinic and has had three sweat test, all have been negative (not even close to borderline). They done a mucus culture where they said he has a lot of mucus???? They found a bacteria and he is on a long coarse of antibiotics.

At the moment I am waiting for his genetic testing to come back but the Doc says it is highly unlikely to be CF. I have heard you can have a negative sweat test but still have CF. Is this true? My little boy is such a happy baby even when he is coughing and rattly. The only time he really gets upset is when he gets his somach pains which is usually not long before he poos. He also seems to get a lot of problems with his sinus. He either has a blocked nose or a runny nose most nights. This usually clears by mid morning. It is like he has the flue but does not. He is my fourth baby with none of the others having these problems. His 5old brother was diagnosed as having astma at 3 and has had one bout of nemonia when he was 4 (looking back this worries me). The Doc informed me some babies are noisy breathers for the first 12mths due to small airways, but this does not explain all the other issues.

Has anyone had a baby with similar symptoms????

 

[JENNYC]

I can't answer the sweat test question but my little one came home from the hospital eating 4oz! She could eat way more than she should be able to. Also she would have 4 to 6 poos a day, and they would stink to high heavens. If he is not digesting his food properly he can seem bloated with an extended stomach and also have stomach pain. Also if he is not digesting properly that is what makes the poo smell SOOOO extremely bad. I would think that they would be able to test his poo. I have no idea what this is called because they never did the test on my daughter. You mentioned that you were waiting for results, did they do a blood test? If so I would make sure that they are doing the one that test for ALL CF genes. Abby stayed sick and on antibiotics clean up until she was diagnosed at 2 years old. It was awful and I wouldn't wish it on anyone. I truly hope you are able to find out something to give both you and him comfort!!! Good luck!!!

 

[Gibson75]

Thankyou for your reply. Yes his poos are very smelly. He had a poo culture done when he was a lot younger before he styarted having the problems with his poo (when he was only being breastfed). Since he started solids is when the poo problems started. I have only just sent another sample off and waiting for results. Yes his genetics testing was a blood test but im not sure if it is the basic or extended one. The good thing is apart from his bronchiolitis he doesnt seem sick. He does get chocked up when he coughes (seems like his choking on something) but doesnt get upset.

 

[briarrose]

Gibson75 - Is your son being seen at an accredited CF center? (Here's the list from the CF Foundation: http://www.cff.org/aboutCFFoundation/Locations/FindACareCenter/.) If not, he should be seen there. Hospitals that don't have accredited CF centers don't always do sweat tests properly or know what to test for after that. They can also help you get the full Ambry genetic panel done if a test of a smaller gene pool comes back negative. Since you know you are a carrier, this way you'll know almost for sure whether or not this is CF you are dealing with or something else.

It is true that you can have a negative sweat test and still have CF, although it can be more rare to have that happen. But, that's why you should be seen by a CF accredited clinic. If it is CF, the earlier you can start the preventative treatments, the better! Good luck!

Erin

 

[Ratatosk]

DS mostly had digestive issues. He was diagnosed because he was born with a bowel obstruction caused by meconium illeus and had to have surgery. Frequent, loose stools -- sometimes I'd change his diaper 3 times at one time. His sweat test was normal, not even borderline; however, a doctor suspected CF and ordered genetic testing. Push for those genetic test results! Especially with a family history and you being a carrier.

 

[Gibson75]

Thanks Erin for your reply,

Yes he is being seen by an accredited CF clinic. He had two sweat test at a non CF facility and one at the CF clinic, all three were normal. Im hoping the gene test is the extended one that tests for more genes. The Doctor seems to feel it is very unlikely to be CF as the sweat test was negative, even though he has ll the other symptoms. His physio even felt he had a tick in all boxes.

 

[Gibson75]

Heres an update on my son's issues.
His initial 32 gene tests came back negative so hence the CF clinic referred him back to his pead. The CF clinic said he has never dealt with someone with CF who returns a negative sweat test therefore he believes he does not have CF. Since then he has continued to have numerous upper resperitory infection. (8 courses of antibiotics in 9 months). He has had a lot of issues with his sinus. Chronic periods of runny nose (sometimes with small amounts of blood in it), blocked tear ducts due to the mucus and then they become infected. He had a middle ear infection. He has seen an ear/nose/throat specialist and he wants remove his adenoids and put drains in when he turns one in February. He had an Xray which showed he has swollen adenoids. His nasal discharge comes and goes but his ongoing cough has worsened. he gets into coughing fits in the morning when he first wakes up and coughs during the night. he does cough during the day but usually after he naps. I have been doing chest physio since he was 4 mths and he has just started on hypertonic saline neb at night. They agree something is wrong and that he has an excess of mucus. He even poops mucus in his chronic (I mean chronic) diareah. If he doesn't have runny poo its kind of fluffy like. He can cry for hours sometimes with tummy pains. I breast feed him during the nights and weekends when not at work. We have tried him on lactose free and dairy free diets and specific formulas but nothing is helping his diareah/pains. His weight is btwn 25-50th percentile and hence they are saying that this supports the non CF diagnosis. I have just seen a genetic specialist and pleaded my case and concerns that we have to completely rule out CF. (As there is a family history and he has D508). They say, "What difference will it make with a diagnosis, we will only treat the sympstoms as they arise" AHHHHH This is doing my head in. I told them I am willing to pay for the full sequencing JUST DO IT!. They are yet to get back to me. They may do the 52 gene test and then I will pay for the full seq. I have contacted Ambry Genetics and they have been helpful but I will try here in Australia first. Am I being paranoid or have I got genuine reasons for concern. I have heard of CFs having negative sweat test and still have CF due to rare mutations? When my little fella was born he sucked in a lot of what they said was his poo and he had trouble until they sucked this out of his stomach, not sure if this has anything to do with it. I am sick of getting treated as an over reactive mum but they don't live with him 24/7. My other three children are healthy. Any advise would be appreciated.

 

[Ratatosk]

With CF, it's so important to be proactive, not reactive to prevent lung damage from occuring. With our local clinic it all boils down to costs. I once contacted DS' local pediatrician who is also the head of the CF clinic for a cousin who wanted to have carrier testing done before she and her husband had childre. The response was "why would she want to go thru testing that probably wouldn't be covered under insurance. Plus she wouldn't want a possible CF diagnosis added to her permanent record.

One thing while awaiting a response regarding genetic testing is to have them do a fecal fat test to see if he's malabsorbing. DS would often have very fluffy stools. He's pancreatic insufficient and needs digestive enzymes. Another thing would be to have them run a CF culture (throat or sputum) to see if he's growing any typical CF bugs like pseudomonas, steno. maltophilia... Things a normal, healthy individual shouldn't be culturing.

Healthcare in the states is different, but one of the best suggestions we got from a relative who is also a medical malpractice attorney was when a medical professional says no in regards to testing for something, you should ask that it be placed in your child's file -- "Parents requested additional testing for.... Clinic refused on the basis that....

 

[Gibson75]

Thanks for your reply. They have previously done 2 sputum tests. First one showed he cultured Heam.Inf and another comon viruses. That was about four mths ago. They tested his poo back then and said it was normal. It has got worse since then but as he is puting on weight, his pancreas must be working. I was wondering if my breast milk is helping his digestion because it seems the less he is having, the worse his diareah.

 

[jshet]

Have you thought about the nasal potential test that can be done at some accredited clinics? This may be helpful. Also have you thought about gerd causing any of his coughing? My son is pancreatic insufficient and still had horrible stools only to find out he also has celiac disease. Not sure if any of this will help. Good luck Jshet

 

[Ratatosk]

It's my understanding that breast milk is more easily digested. I believe a couple people on this site had issues once switching to formula. And if there's pancreatic insufficiency, the pancreas still functions a little bit. Also, ds cultured h. Flu early on, usually has a sinus infection when cultures showed it. Didn't go away until he was put on azithromycin.

 

[Cherylwithone]

My daughter was a very fat baby when born. She also ingested her poop at birth. Years later having problems with growing etc. She got tested for CF. I thought they were all nuts testing
her for CF. No family history. She has CF. On the poop thing they collect it over 72 hours then test. She has done it twice and is loaded with fat and food chunks. She is pancreatic inefficiency.

She was breast feed when born. I would push for the full testing and not just go with 32 genes tested. Ambrey will test for all 1500 of them. Well worth the money.

 

[becabee]

Hello, I am the grandmother of a 7 yr old boy with CF. All his sweat tests have come out negative. The CF clinic did a FULL genetic testing before they found his rare gene double tg115t . Just because the sweat test comes out neg or borderline doesn't mean your little one doesn't have it. My grandson is more gastric in his symptoms and goes into the hospital every couple of months for obstruction. They tried to tell my daughter he didn't have it but she insisted on the full panel and they found it. It sounds to me like you need to keep pushing for the same.

 

[Gibson75]

Thankyou all for replying. I had her breastmilk can be more easily digested. I will push for further testing on his poo at next appointment. I am still waiting to see what test, if any - they will pay for. I have already decided to pay for full seq if we have to. Too many things don't add up and I am a true believer in a "mother's gut instinct" and at the moment i'm not too impressed with the docs attitude.
I thought he maThanks again it been more than helpful. Will keep updating just in case (hopefully not) someone else is going through a similar thing.

 

[amber682]

This child needs a full gene sequence through AMbry genetics. His second mutation is probably one of the rarer ones. He has a lot of classic sympoms of CF, in my opinion. Keep pushing for the full panel and do not back down

 

[LittleLab4CF]

Gasp! The premise that you are alone with a wedge between diagnostic data and your baby's symptoms has been dashed. Is your baby's DF508 homozygous or heterozygous? Homozygous DF508 cinches a sadly positive diagnosis for CF although a single copy won't rule out symptoms of CF. The sweat test, while still the imperical standard, is easy to "fail" even a dozen times. Periodically repeating the sweat test is important. Possibly fairly frequently to begin with and a few times a year if a positive isn't forthcoming. We may not present all of later CF issues at birth.
LL

 

[Gibson75]

Yes his 32 gene test came back heterozygous for DF508. This gene is passed on from me as my eldeest daughter (10) is also a carrier. Unlike my bub she has no symptoms. I am yet to hear back from genetics in Australia and I am getting very frustrated and impatient. If I don't hear from them soon I will be going through Ambry Genetics. Thankyou all for your advise, it is reasuring that i'm not just a paranoid mother as I feel the doctors believe.