Cystic Fibrosis?

[pigget74]

Have any of you had a positive diagnosis even though your child did not fit the normal criteria? DD is 18mths and we are seeing a gastro specialist and he said based on her issues and everything that CF is on the table as well as other diseases and disorders. He was just going through every possible thing and asked if CF had ever been discussed. IT has not and he said as of now nothing is ruled out. He was shocked that it had not been mentioned, but at the same time he did not request the testing --so I am now curious. I always thought this was an illness that was diagnosed early on, but he said you could be diagnosed whenever--it is just more common to get an early diagnosis. We go back for more testing on the 30th. Hopefully we will get answers soon.

 

[crashbb]

I haven't had a child diagnosed with CF, but my research area is CF (I'm doing my PhD in epidemiology). Although CF is generally diagnosed early, a diagnosis at 18 months is definitely not unusual (in my data set, I have people diagnosed in adulthood - those are unusual!). A lot depends on how the patient presents and what CF causing mutations the patient has (which influences how they present).

I'm assuming your daughter hasn't had a sweat chloride test yet? That is generally the starting point (at least in our clinic).

Good luck - I hope you get some answers soon.

 

[pigget74]

No, she has not had a sweat chloride test done yet. I am familiar with the test and thought since it is so simple that would be an easy thing to rule out. He is starting with what he thinks it is and then going from there.
1st is a culture of her nasty poop. 2) breath test for hydrogen 3) biopsies of pancreas, small and large intestines and whatever other tests he decides on at our next appointment. I think there is blood work at that one as well for some sort of allergin testing.

 

[Regina]

I just want to say that I'm truly sorry that your family is going through this. I hope that whatever they find is easily treated and that your little one is on the road to good health soon.

 

[perriwinkleblue]

I just want to say that I'm truly sorry that your family is going through this. I hope that whatever they find is easily treated and that your little one is on the road to good health soon.

Ditto from me. You'll be in my thoughts and prayers.

 

[mommyofboys]

Just reading your story brings back so many memories from when my oldest ds was about 2. I don't know exactly what type of issues your dd is having, but here is our story...

DS was having major bowel issues, his pediatrician at the time told me that it was "toddler tummy" and it was normal to have diarrhea as often and as watery as it was (it would run out of his diaper and down his leg it was so bad). I kept insisting something wasn't right - but she insisted nothing was wrong. She did have us change from milk to soy milk. When the option came for us to change our health insurance we did -to one that did not require referrals. We first went to an allergist - he was not allergic to anything but they did have us come off of the soy and switch to rice milk. He was diagnosed with failure to thrive and they recommended we have him tested for cystic fibrosis. We went and had the sweat test done and it was negative. We were then recommended to go to a GI at Children's Hospital. They had us change his diet all around - they thought it was Celiac Disease. We did what they said - had to keep logs of what he ate and what his bowel movements looked like, consistency, how often, etc. In the mean time we were at the pediatrician for something else and we happened to see a different doctor than normal. I told her the issues and she recommended a stool sample (probably to shut me up!). A few days later I get the phone call...Salmonella poisoning - a moderate growth!!! We were then put on antibiotics and had to keep having his stools to be retested for a little while to make sure they continued to stay negative. We also had to be followed by the health department - how embarrasing.

Sorry to go on and on - but no, we had no illnesses or true symptoms of CF.

Good luck with whatever is going on - I feel your pain. You just want your little one to feel better.

 

[pigget74]

Just reading your story brings back so many memories from when my oldest ds was about 2. I don't know exactly what type of issues your dd is having, but here is our story...

DS was having major bowel issues, his pediatrician at the time told me that it was "toddler tummy" and it was normal to have diarrhea as often and as watery as it was (it would run out of his diaper and down his leg it was so bad). I kept insisting something wasn't right - but she insisted nothing was wrong. She did have us change from milk to soy milk. When the option came for us to change our health insurance we did -to one that did not require referrals. We first went to an allergist - he was not allergic to anything but they did have us come off of the soy and switch to rice milk. He was diagnosed with failure to thrive and they recommended we have him tested for cystic fibrosis. We went and had the sweat test done and it was negative. We were then recommended to go to a GI at Children's Hospital. They had us change his diet all around - they thought it was Celiac Disease. We did what they said - had to keep logs of what he ate and what his bowel movements looked like, consistency, how often, etc. In the mean time we were at the pediatrician for something else and we happened to see a different doctor than normal. I told her the issues and she recommended a stool sample (probably to shut me up!). A few days later I get the phone call...Salmonella poisoning - a moderate growth!!! We were then put on antibiotics and had to keep having his stools to be retested for a little while to make sure they continued to stay negative. We also had to be followed by the health department - how embarrasing.

Sorry to go on and on - but no, we had no illnesses or true symptoms of CF.

Good luck with whatever is going on - I feel your pain. You just want your little one to feel better.

This has been us. I nursed her for the first 8 mths and she was having issues then. At every check up I asked questions about it and was always dismissed with the same "toddler tummmy". In October it got so bad that they cultured for ecoli and salmonella and parasites. All came back negative. Just in case something was missed they went ahead and treated her for Ecoli since our water system was having issues. Well in Feb. it was really bad again---not that it had been great---and our Dr. finally referred us, but also started his own blood work. She tested negative for celiac. In October we took her off milk and started rice milk. Her bottom cleared up--it was not a diaper rash, but something else that had puzzled our Dr. her ENTIRE life! Well, since mid March her bottom looks like someone poured acid on it. Our specialist and our ped. both recommended for her to be treated for a parasite--so we did 2 rounds of that medicine. She has dropped from the 25th to the 5th % on the charts. I call them episodes---this is where she can have as many as 10 pure water stools a day, screams, and does not eat. these can last from a day to 3 weeks- we just never know. During this time she does not eat or she will eat very little. She has NEVER had a normal poop in her life. In MArch we took her off all fruits and juices and she has done a little better. I think we have gained 1.5 pounds. She had 3 weeks of eating, but she was still having at least 5 diapers a day--thankfully not all water, but nowhere near normal. This past week has not been good--between Wed. night and Sunday morning we changed 22 water diapers and then today so far we have had 2. If this continues we will lose this gain as well. Technically she has not gained any weight since her 1 year check up.

Our specialist has said that the only things that we know this is not is IBS and Toddler Tummy- everything else is still on the table.

 

[Chuck-PA]

Our son just turned 21 and over the years we have learned many things about Cystic Fibrosis.
This disease affects either the lungs or bowel area or both.
My son has both lungs and bowels.

He had the loose bowels for the first few months and our pediatrician kept telling us it was the formula he was on and kept switching it.
My family doctor questioned us about Chris and suggested we go to an allergist who tested him and found nothing and he in turned suggested the sweat test.

This was back in 1988 and things have changed alot in the diagnosis and treatment of this disease since then.

If you have any questions or concerns, I will answer the best I can.

 

[pigget74]

Our son just turned 21 and over the years we have learned many things about Cystic Fibrosis.
This disease affects either the lungs or bowel area or both.
My son has both lungs and bowels.

He had the loose bowels for the first few months and our pediatrician kept telling us it was the formula he was on and kept switching it.
My family doctor questioned us about Chris and suggested we go to an allergist who tested him and found nothing and he in turned suggested the sweat test.

This was back in 1988 and things have changed alot in the diagnosis and treatment of this disease since then.

If you have any questions or concerns, I will answer the best I can.

WOW! I had no clue that CF had two areas. I always just thought it was a lung issue and that is why I was shocked when he mentioned it. She did have double pneumonia at 8weeks and has had a vast amount of infections. Thank you for posting.

 

[crashbb]

WOW! I had no clue that CF had two areas. I always just thought it was a lung issue and that is why I was shocked when he mentioned it. She did have double pneumonia at 8weeks and has had a vast amount of infections. Thank you for posting.

CF actually affects the entire body (any epithelial cells). The two big ones are gut and lung (with lung being, by far, the main cause of morbidity and mortality). Actually, in the early 19th century, it was called cystic fibrosis of the pancreas.

The main issue with the gut is pancreatic insufficiency (basically, the pancreas does not excrete exocrine enzymes, so food is not properly digested - leading to "CF stools", which is often one of the first signs noted in CF babies). It is also why failure to thrive is another symptom seen in many CF babies before diagnoses. Not all CF patients have a problem with the gut, though - it depends strongly on the specific CF causing mutation that the patient has (though, in North America at least, the majority of patients are pancreatic insufficient).

With so many permutations and combinations of symptoms and disease presentations, it is easy to see why CF can be confused with/for many other issues in infants.

Good luck with your little one.

 

[chezza]

Hi just a few lines to try & uplift your spirits.

I have cf, I was diagnosed at 6 weeks old, I've always had problems with the lungs & bowels & am now diabetic. I am 46, married, no children not advised when I was young and made decision to be sterilised. In 2000 my team referred me to my local transplant centre as I was needing more iv treatment & they thought I had less than 2 years to live. I am still here, with my own lungs, & only 27% of them working. I love to travel to America (need oxygen the whole journey), but hey 10 hours hooked up to oxygen is worth all the stares whilst on the plane (I live in England), oh and you get good seats, we had 3 seats between my husband & I last year.

I work part time as a receptionist & although there are lots of things I can't do (skydiving, traveling off the beaten track, eat spicy foods etc) I do I still live my life to the full.

Treatment for young cf's now is excellent & with trials for the cure currently being done the future is bright. Some days are hard going, but I my mum once told me there are always people worse off than you, and she's right.

I have 3 nebulisers per day, 2 lots of inhalers & at last count I was on 54 tabs per day, 4 shots of insulin per day.

If you want to ask me any questions, on any subject, please ask away.


Chez

 

[LuvOrlando]

-

 

[sacall]

My oldest dd was just diagnosed last year at the age of 11. For the past three years, she had problems gaining weight and then was having terrible stomach problems. We went to a gastro first, who did the whole stool sample (found out she had a lot of fat and protein in her stool - that was why she wasn't gaining), endoscopy and colonscopy, blood work, etc. Nothing showed up - they thought she had inflammatory bowel disease, crohen's or celiac. Nope, wasn't anyone of those!

My husband was at the dentist's office one day and our dentist asked about if she ever had a sweat test for CF. We both were like - no, she has never had lung problems, never! Talked to the gastro, she said, why not, it wouldn't hurt. Guess what, she had two positive sweat tests for CF. We were admitted to the CF Clinic (University of Michigan) and spent 4 days there. That was in Feb 2008.

Now, currently, her lungs at 100% clear, no problems. Her biggest problem is her digestive system. Still has problems gaining and keeping weight on. They did send her blood work to Mayo and they could not identify the CF mutation she has (there are over 1300 different mutations). She doesn't present like anyone our CF doctors has seen or have seen listed in their database. They still believe she has CF. We are trying to see a doctor in Canada who is doing a study on CF patients with mainly gastro problems. Hopefully, we can see him this summer.

Why won't your doctor order a simple sweat test? I would ask for that first before I would allow any invasive stuff done. I don't know where you are from, but make sure you have the sweat test done at a CF Center. If you want to know where they are, please PM and I can get you a list. The very best place for answers about CF is www.cff.org - CF Foundation. That is the most up to date information.

to you, it was and has been a very bumpy road, but you will get through it.

Stacy

 

[pigget74]

Thank you all for your responses. As of now they have not requested this test. WE finally got a poop culture and should have those results soon. WE go back to the specialist on the 30th for a breath test and from that and the culture he will decide what is next. He mentioned doing biopsies, but wanted the breath test first. Like, I said earlier--we do not think this is what she has, but was curious to see if others didn't fit the criteria and still tested positive.
Thanks again.

 

[pigget74]

My oldest dd was just diagnosed last year at the age of 11. For the past three years, she had problems gaining weight and then was having terrible stomach problems. We went to a gastro first, who did the whole stool sample (found out she had a lot of fat and protein in her stool - that was why she wasn't gaining), endoscopy and colonscopy, blood work, etc. Nothing showed up - they thought she had inflammatory bowel disease, crohen's or celiac. Nope, wasn't anyone of those!

My husband was at the dentist's office one day and our dentist asked about if she ever had a sweat test for CF. We both were like - no, she has never had lung problems, never! Talked to the gastro, she said, why not, it wouldn't hurt. Guess what, she had two positive sweat tests for CF. We were admitted to the CF Clinic (University of Michigan) and spent 4 days there. That was in Feb 2008.

Now, currently, her lungs at 100% clear, no problems. Her biggest problem is her digestive system. Still has problems gaining and keeping weight on. They did send her blood work to Mayo and they could not identify the CF mutation she has (there are over 1300 different mutations). She doesn't present like anyone our CF doctors has seen or have seen listed in their database. They still believe she has CF. We are trying to see a doctor in Canada who is doing a study on CF patients with mainly gastro problems. Hopefully, we can see him this summer.

Why won't your doctor order a simple sweat test? I would ask for that first before I would allow any invasive stuff done. I don't know where you are from, but make sure you have the sweat test done at a CF Center. If you want to know where they are, please PM and I can get you a list. The very best place for answers about CF is www.cff.org - CF Foundation. That is the most up to date information.

to you, it was and has been a very bumpy road, but you will get through it.

Stacy

Somehow I missed your post. We are starting out with the least invasive ones first. Poop culture for PH, fats, and protien. On the 30th we do a breath test which is checking for hydrogen. If we do not get answers from these then we start to discuss the biopsies. I feel the same way--I want to do the sweat test before the biopsies. When DS had the sweat test done 12 years ago it was just done at the local hospital--his was for other reasons and it was negative. How are they done differently at the CF clinic? I think the closest one is a couple of hours away in a another state. At least that is where all the local CF kids go. Our Gastro is the one that mentioned this, but it was with a list of other things that it could be as well. I had just never thought about it because all symptoms are gastro...now I know otherwise. He really thinks that between the culture and breath test we will have an answer, but at the same time prepared us for the biopsies just in case.

 

[sacall]

Somehow I missed your post. We are starting out with the least invasive ones first. Poop culture for PH, fats, and protien. On the 30th we do a breath test which is checking for hydrogen. If we do not get answers from these then we start to discuss the biopsies. I feel the same way--I want to do the sweat test before the biopsies. When DS had the sweat test done 12 years ago it was just done at the local hospital--his was for other reasons and it was negative. How are they done differently at the CF clinic? I think the closest one is a couple of hours away in a another state. At least that is where all the local CF kids go. Our Gastro is the one that mentioned this, but it was with a list of other things that it could be as well. I had just never thought about it because all symptoms are gastro...now I know otherwise. He really thinks that between the culture and breath test we will have an answer, but at the same time prepared us for the biopsies just in case.

We too started with the poop test, that is where they found the fat and protein. I don't remember about the PH. I'm assuming they are doing the breath test for lactose problems? See what those say and then talk to your doctor. I see you are in MS, there is a CF clinic at the University of Mississippi in Jackson. I don't know how close you are to that University. We were lucky, our health system is the University of Michigan, which has a CF center.

I say to do it at a CF center, because we have talked to many other families with CF kids. They started out at local hospitals, but were not getting the best care for their kids at those hospitals. Our CF center has the latest, most up date info and meds for CF patients. They know of clinical trials that are being run, they just are so much more update on CF. My dd's sweat test results were 63 and 61, which anything over 60, our CF center says is CF. Some doctors believe 80 is the CF threshold, which is not accurate. The earlier you get them doing treatments, the better their health, the longer their life.

Why was your older ds tested? I too have a younger dd, who thankfully, did not test positive for CF. They know my daughter has a very mild case of CF, they can't even figure out what mutation she has. No one that I know in either my husband or my family ever had CF (or symptoms of it) that anyone can recall. We were in total shock when it came back positive. I remember them telling me the results, that they wanted to admit her right away and thinking she would be gone by the time she was twenty. THAT IS NOT THE CASE! The advances they have made in the treatment of people with CF, they are living much, much, much longer lives. There are people in their 70's who go to our CF Center. I'm so glad we finally have answers and can help Emma.

I hope they can find out what is wrong with your ds. To me, that was more scary than finally figuring out what was wrong with my dd.

Stacy

 

[pigget74]

We too started with the poop test, that is where they found the fat and protein. I don't remember about the PH. I'm assuming they are doing the breath test for lactose problems? See what those say and then talk to your doctor. I see you are in MS, there is a CF clinic at the University of Mississippi in Jackson. I don't know how close you are to that University. We were lucky, our health system is the University of Michigan, which has a CF center.


Why was your ds tested?

We live about 70 minutes from Jackson. That is where we have to go anyway for the Ped. Gastro. I did not know there was one there. That is good to know. I am ready for next week to get here, I am just ready for answers, but I also know that we may not get them next week.

I cannot recall why our ped. sent DS to be tested. I remember that he was having a hard time with catching everything and gaining weight.

Thanks
Heather

 

[crashbb]

My oldest dd was just diagnosed last year at the age of 11. For the past three years, she had problems gaining weight and then was having terrible stomach problems. We went to a gastro first, who did the whole stool sample (found out she had a lot of fat and protein in her stool - that was why she wasn't gaining), endoscopy and colonscopy, blood work, etc. Nothing showed up - they thought she had inflammatory bowel disease, crohen's or celiac. Nope, wasn't anyone of those!

My husband was at the dentist's office one day and our dentist asked about if she ever had a sweat test for CF. We both were like - no, she has never had lung problems, never! Talked to the gastro, she said, why not, it wouldn't hurt. Guess what, she had two positive sweat tests for CF. We were admitted to the CF Clinic (University of Michigan) and spent 4 days there. That was in Feb 2008.

Now, currently, her lungs at 100% clear, no problems. Her biggest problem is her digestive system. Still has problems gaining and keeping weight on. They did send her blood work to Mayo and they could not identify the CF mutation she has (there are over 1300 different mutations). She doesn't present like anyone our CF doctors has seen or have seen listed in their database. They still believe she has CF. We are trying to see a doctor in Canada who is doing a study on CF patients with mainly gastro problems. Hopefully, we can see him this summer.

Why won't your doctor order a simple sweat test? I would ask for that first before I would allow any invasive stuff done. I don't know where you are from, but make sure you have the sweat test done at a CF Center. If you want to know where they are, please PM and I can get you a list. The very best place for answers about CF is www.cff.org - CF Foundation. That is the most up to date information.

to you, it was and has been a very bumpy road, but you will get through it.

Stacy

Wow, your daughter's story is fascinating. CF is such a varied disease. May I ask who you are seeing in Canada? Feel free to not answer, if you'd rather not - it is just that I do CF research in Canada and work with a few GI types.

 

[sacall]

Wow, your daughter's story is fascinating. CF is such a varied disease. May I ask who you are seeing in Canada? Feel free to not answer, if you'd rather not - it is just that I do CF research in Canada and work with a few GI types.

I would tell you, but I don't know! We find out at her June appointment if we received grant money to see the doctor in Canada since it will not be covered by our insurance. I know he is somewhere in Ontario, but that is all I know.

Stacy

 

[pigget74]

We too started with the poop test, that is where they found the fat and protein. I don't remember about the PH. I'm assuming they are doing the breath test for lactose problems? See what those say and then talk to your doctor. I see you are in MS, there is a CF clinic at the University of Mississippi in Jackson. I don't know how close you are to that University. We were lucky, our health system is the University of Michigan, which has a CF center.

Stacy

We did get back some of the results. He did not give to much information and said the other Dr. would go over it all when we there next week. We love our ped. and have used him for all of my kids--been with him for 14 years. He is not the one that mentioned CF and he did not say much about the notes the gastro sent him--other than he did order the labs that were asked for. Granted during all this Rebekah was screaming from the moment they called her name--so having a real discussion was hard over her screams. This was just for her 18mth checkup. He has been very proactive on every other thing with her---I think he realizes that he should have sent us to the gastro before now.

He did say that there was no Fat found. He did not mention the Protein. The PH was rather low--I did not think to ask for a number.

The breath test is to check for a carbohydrate problem--which would be lactase I am guessing. Everything that I have read points to lactose--lactase, but he specifically said Carbs---I know they break down and such---This will be a fasting test---and it will take I think 3 hours to get it done. We go in--they check her--then we drink a solution--then they check her over the next couple of hours. We will get those results that day.

I might call our Ped. Gastro. and see if he can go ahead and set up an appt. at the University for the sweat test while we are there next week. Not sure really how to handle this.

Heather