not sure what to do, if anything!

mom2owen · Jan 18, 2011

I have been lurking here for some time. I have found so many posts I have wanted to reply to so I finally decided to join, despite our lack of diagnosis.
Trying to summarize briefly (a hard thing for me to do, I talk a lot!), my son has had a rough couple of years. His infancy was marked by projectile reflux, vomiting/diarrhea to some foods, lots of ear infections resulting in some mild hearing loss, several bouts of RSV and pneumonia and obstructive sleep apnea (tonsillectomy/adenoidectomy at 4 yo), . We just thought it was normal. Then when he turned five, he began losing weight, lost 14 pounds in 3 months, was diagnosed with "asthma," had chronic sinusitis and continued to get some lung infections. He eventually got a g-tube for feedings with elemental formula which help a ton. He also began getting lots of really severe bloody noses. Right now, he doesn't get sick too often, but when he does, it goes straight to pneumonia and he has been on oral prednisone five times in 18 months. He was also found to have clubbing, though relatively mild.
He is currently on QVAR inhalers, albuterol inhalers or nebs (depending on whether he has pneumonia or not), and, after a long road to diagnosis, Creon for Pancreatic Insufficiency. Just a word about that, he could not complete the fecal fat test, it made him too constipated, he didn't poop for two weeks, even on Milk of Magnesia and it also made him throw up. So, we tried Creon without the result to see how it would work and he has now gained nine pounds in 14 days! He has been considered failure to thrive but I am hoping we might change that with Creon!
He is currently diagnosed with chronic sinusitis, asthma, dust mite allergy, food protein induced enterocolitis, fructose intolerance and pancreatic insufficiency.
He has had two sweat chlorides, 38 and 18 results. He has had gene testing for 200 variants (I need more info on that from Mayo so I can be sure which test they ran) which were negative. We have no family history. One of the sweat tests was done at an accredited facility and they would not even let us see the CF team since his results were so low.
I know people here have had low sweat tests with CF. I also know with some gene testing done and not showing anything, we might need to close this door and find something else. We have just had a really rough few years dealing with so many issues and not having something to explain why.
I am wondering if we need to go to a pulmonologist instead of asthma doctor? Who does the nasal differential test and would you recommend it? Is it foolish to keep looking for an answer? I sometimes think the modern diagnostic techniques have also made it harder for some people who do not fit into a mold. But, I also know that there is a whole lot I don't know about and I might need to look for answers a different way.
I have heard such great things about everyone here, I am looking forward to posting again and I thank you all in advance for any ideas.
Katy

mom2owen · Jan 18, 2011

I have been lurking here for some time. I have found so many posts I have wanted to reply to so I finally decided to join, despite our lack of diagnosis.
Trying to summarize briefly (a hard thing for me to do, I talk a lot!), my son has had a rough couple of years. His infancy was marked by projectile reflux, vomiting/diarrhea to some foods, lots of ear infections resulting in some mild hearing loss, several bouts of RSV and pneumonia and obstructive sleep apnea (tonsillectomy/adenoidectomy at 4 yo), . We just thought it was normal. Then when he turned five, he began losing weight, lost 14 pounds in 3 months, was diagnosed with "asthma," had chronic sinusitis and continued to get some lung infections. He eventually got a g-tube for feedings with elemental formula which help a ton. He also began getting lots of really severe bloody noses. Right now, he doesn't get sick too often, but when he does, it goes straight to pneumonia and he has been on oral prednisone five times in 18 months. He was also found to have clubbing, though relatively mild.
He is currently on QVAR inhalers, albuterol inhalers or nebs (depending on whether he has pneumonia or not), and, after a long road to diagnosis, Creon for Pancreatic Insufficiency. Just a word about that, he could not complete the fecal fat test, it made him too constipated, he didn't poop for two weeks, even on Milk of Magnesia and it also made him throw up. So, we tried Creon without the result to see how it would work and he has now gained nine pounds in 14 days! He has been considered failure to thrive but I am hoping we might change that with Creon!
He is currently diagnosed with chronic sinusitis, asthma, dust mite allergy, food protein induced enterocolitis, fructose intolerance and pancreatic insufficiency.
He has had two sweat chlorides, 38 and 18 results. He has had gene testing for 200 variants (I need more info on that from Mayo so I can be sure which test they ran) which were negative. We have no family history. One of the sweat tests was done at an accredited facility and they would not even let us see the CF team since his results were so low.
I know people here have had low sweat tests with CF. I also know with some gene testing done and not showing anything, we might need to close this door and find something else. We have just had a really rough few years dealing with so many issues and not having something to explain why.
I am wondering if we need to go to a pulmonologist instead of asthma doctor? Who does the nasal differential test and would you recommend it? Is it foolish to keep looking for an answer? I sometimes think the modern diagnostic techniques have also made it harder for some people who do not fit into a mold. But, I also know that there is a whole lot I don't know about and I might need to look for answers a different way.
I have heard such great things about everyone here, I am looking forward to posting again and I thank you all in advance for any ideas.
Katy

mom2owen · Jan 18, 2011

I have been lurking here for some time. I have found so many posts I have wanted to reply to so I finally decided to join, despite our lack of diagnosis.
 Trying to summarize briefly (a hard thing for me to do, I talk a lot!), my son has had a rough couple of years. His infancy was marked by projectile reflux, vomiting/diarrhea to some foods, lots of ear infections resulting in some mild hearing loss, several bouts of RSV and pneumonia and obstructive sleep apnea (tonsillectomy/adenoidectomy at 4 yo), . We just thought it was normal. Then when he turned five, he began losing weight, lost 14 pounds in 3 months, was diagnosed with "asthma," had chronic sinusitis and continued to get some lung infections. He eventually got a g-tube for feedings with elemental formula which help a ton. He also began getting lots of really severe bloody noses. Right now, he doesn't get sick too often, but when he does, it goes straight to pneumonia and he has been on oral prednisone five times in 18 months. He was also found to have clubbing, though relatively mild.
 He is currently on QVAR inhalers, albuterol inhalers or nebs (depending on whether he has pneumonia or not), and, after a long road to diagnosis, Creon for Pancreatic Insufficiency. Just a word about that, he could not complete the fecal fat test, it made him too constipated, he didn't poop for two weeks, even on Milk of Magnesia and it also made him throw up. So, we tried Creon without the result to see how it would work and he has now gained nine pounds in 14 days! He has been considered failure to thrive but I am hoping we might change that with Creon!
 He is currently diagnosed with chronic sinusitis, asthma, dust mite allergy, food protein induced enterocolitis, fructose intolerance and pancreatic insufficiency.
 He has had two sweat chlorides, 38 and 18 results. He has had gene testing for 200 variants (I need more info on that from Mayo so I can be sure which test they ran) which were negative. We have no family history. One of the sweat tests was done at an accredited facility and they would not even let us see the CF team since his results were so low.
 I know people here have had low sweat tests with CF. I also know with some gene testing done and not showing anything, we might need to close this door and find something else. We have just had a really rough few years dealing with so many issues and not having something to explain why.
 I am wondering if we need to go to a pulmonologist instead of asthma doctor? Who does the nasal differential test and would you recommend it? Is it foolish to keep looking for an answer? I sometimes think the modern diagnostic techniques have also made it harder for some people who do not fit into a mold. But, I also know that there is a whole lot I don't know about and I might need to look for answers a different way.
 I have heard such great things about everyone here, I am looking forward to posting again and I thank you all in advance for any ideas.
 Katy

KingJames · Jan 18, 2011

I'll ask a few questions and get back to you with a more concise answer regarding everything you've described.

However, just as a bit of information regarding diagnoses issues, one thing I've noticed as of recent is what I'd consider an ever expanding definition of what construes CF. CF, as it had stood for the longest time, didn't include a lot of people who've now suddenly been diagnosed with it. I'm not certain what the deal is with the "Definition creep" (ie, A slightly changing definition) as I consider it, but it's a reality for whatever reason(s).

Please know that I personally feel you are welcome here, regardless of a diagnoses, and thank you for confiding in us. I hope your child does well, and I will get back to you ASAP with some advice regarding your situation. Welcome to the board, Ma'am

KingJames · Jan 18, 2011

I'll ask a few questions and get back to you with a more concise answer regarding everything you've described.

However, just as a bit of information regarding diagnoses issues, one thing I've noticed as of recent is what I'd consider an ever expanding definition of what construes CF. CF, as it had stood for the longest time, didn't include a lot of people who've now suddenly been diagnosed with it. I'm not certain what the deal is with the "Definition creep" (ie, A slightly changing definition) as I consider it, but it's a reality for whatever reason(s).

Please know that I personally feel you are welcome here, regardless of a diagnoses, and thank you for confiding in us. I hope your child does well, and I will get back to you ASAP with some advice regarding your situation. Welcome to the board, Ma'am

KingJames · Jan 18, 2011

I'll ask a few questions and get back to you with a more concise answer regarding everything you've described.
 
 However, just as a bit of information regarding diagnoses issues, one thing I've noticed as of recent is what I'd consider an ever expanding definition of what construes CF. CF, as it had stood for the longest time, didn't include a lot of people who've now suddenly been diagnosed with it. I'm not certain what the deal is with the "Definition creep" (ie, A slightly changing definition) as I consider it, but it's a reality for whatever reason(s).
 
 Please know that I personally feel you are welcome here, regardless of a diagnoses, and thank you for confiding in us. I hope your child does well, and I will get back to you ASAP with some advice regarding your situation. Welcome to the board, Ma'am

Wingnatic · Jan 18, 2011

I had a family member (nephew) go through something similar , always sick with something or other (still gets sick alot ) , he's an adult now and just recently was suspected of having CF . Test after test (a couple of sweat test in there ) although he was told he was borderline (how is that possible ?) he was told they are leaning against a CF diagnosis but he does take enzymes now . Obviously the ones that are diagnosed with CF , the paternal parents are both carriers of the defective CF gene . I'm not sure of the cost involved to have genetic testing done on paternal parents , but that would certainly help in determining if one , both , or neither are carriers of the defective CF gene .

Wingnatic · Jan 18, 2011

I had a family member (nephew) go through something similar , always sick with something or other (still gets sick alot ) , he's an adult now and just recently was suspected of having CF . Test after test (a couple of sweat test in there ) although he was told he was borderline (how is that possible ?) he was told they are leaning against a CF diagnosis but he does take enzymes now . Obviously the ones that are diagnosed with CF , the paternal parents are both carriers of the defective CF gene . I'm not sure of the cost involved to have genetic testing done on paternal parents , but that would certainly help in determining if one , both , or neither are carriers of the defective CF gene .

Wingnatic · Jan 18, 2011

I had a family member (nephew) go through something similar , always sick with something or other (still gets sick alot ) , he's an adult now and just recently was suspected of having CF . Test after test (a couple of sweat test in there ) although he was told he was borderline (how is that possible ?) he was told they are leaning against a CF diagnosis but he does take enzymes now . Obviously the ones that are diagnosed with CF , the paternal parents are both carriers of the defective CF gene . I'm not sure of the cost involved to have genetic testing done on paternal parents , but that would certainly help in determining if one , both , or neither are carriers of the defective CF gene .

Ratatosk · Jan 18, 2011

It sounds as if you're on the right track. IMO, I'd push for more specific genetic testing. There are a number of individuals on this site who've had normal sweat test results, yet have found out thru more extensive genetic testing that they do have CF.

In the meantime, are you doing any chest physiotherapy/Bronchial drainage or vesting to keep the mucus moving?

Ratatosk · Jan 18, 2011

It sounds as if you're on the right track. IMO, I'd push for more specific genetic testing. There are a number of individuals on this site who've had normal sweat test results, yet have found out thru more extensive genetic testing that they do have CF.

In the meantime, are you doing any chest physiotherapy/Bronchial drainage or vesting to keep the mucus moving?

Ratatosk · Jan 18, 2011

It sounds as if you're on the right track. IMO, I'd push for more specific genetic testing. There are a number of individuals on this site who've had normal sweat test results, yet have found out thru more extensive genetic testing that they do have CF.
 
 In the meantime, are you doing any chest physiotherapy/Bronchial drainage or vesting to keep the mucus moving?

Mommafirst · Jan 18, 2011

I would definitely think you need a pulmonologist on your team here. No offense to asthma/allergy docs, but they just aren't as schooled in the CF stuff. If the creon is working, and it does sound like it is, then that should narrow down the foucs. There aren't too many diseases that cause pancreatic insufficiency and respiratory problems.

CF is the most likely cause, and until he is tested for the whole sequencing, deletetions and duplications of all mutations test, you can't really rule it out and close the door.

Schwachmann Diamond Syndrome also causes pancreatic insufficiency, short stature, FTT, and lung infections. In addition kids with SDS tend to bruise more and some have bleeding issues. A good pulmonologist should be able to decide if its worth testing for this.

Primary Ciliary Diskinesia is a pretty rare and not well study illness. Its symptoms are very similar to CF. Instead of the mucus being thick and sticky (like in CF) the cilia that move mucus around don't work. So in both cases the mucus can't clear as easily from the lungs and become a breeding ground for infection. Im not sure that there is research concluding that pancreatic insufficiency is a symptom of PCD, but I have a friend whose son has PCD and he also has a g-tube and even with it can't gain great. They will be trying creon soon.

I hope this helps. Definitely get to a pulmonologist and consider asking about these other options. Good luck -- I know how frustrating the not knowing can be.

Mommafirst · Jan 18, 2011

I would definitely think you need a pulmonologist on your team here. No offense to asthma/allergy docs, but they just aren't as schooled in the CF stuff. If the creon is working, and it does sound like it is, then that should narrow down the foucs. There aren't too many diseases that cause pancreatic insufficiency and respiratory problems.

CF is the most likely cause, and until he is tested for the whole sequencing, deletetions and duplications of all mutations test, you can't really rule it out and close the door.

Schwachmann Diamond Syndrome also causes pancreatic insufficiency, short stature, FTT, and lung infections. In addition kids with SDS tend to bruise more and some have bleeding issues. A good pulmonologist should be able to decide if its worth testing for this.

Primary Ciliary Diskinesia is a pretty rare and not well study illness. Its symptoms are very similar to CF. Instead of the mucus being thick and sticky (like in CF) the cilia that move mucus around don't work. So in both cases the mucus can't clear as easily from the lungs and become a breeding ground for infection. Im not sure that there is research concluding that pancreatic insufficiency is a symptom of PCD, but I have a friend whose son has PCD and he also has a g-tube and even with it can't gain great. They will be trying creon soon.

I hope this helps. Definitely get to a pulmonologist and consider asking about these other options. Good luck -- I know how frustrating the not knowing can be.

Mommafirst · Jan 18, 2011

I would definitely think you need a pulmonologist on your team here. No offense to asthma/allergy docs, but they just aren't as schooled in the CF stuff. If the creon is working, and it does sound like it is, then that should narrow down the foucs. There aren't too many diseases that cause pancreatic insufficiency and respiratory problems.
 
 CF is the most likely cause, and until he is tested for the whole sequencing, deletetions and duplications of all mutations test, you can't really rule it out and close the door.
 
 Schwachmann Diamond Syndrome also causes pancreatic insufficiency, short stature, FTT, and lung infections. In addition kids with SDS tend to bruise more and some have bleeding issues. A good pulmonologist should be able to decide if its worth testing for this.
 
 Primary Ciliary Diskinesia is a pretty rare and not well study illness. Its symptoms are very similar to CF. Instead of the mucus being thick and sticky (like in CF) the cilia that move mucus around don't work. So in both cases the mucus can't clear as easily from the lungs and become a breeding ground for infection. Im not sure that there is research concluding that pancreatic insufficiency is a symptom of PCD, but I have a friend whose son has PCD and he also has a g-tube and even with it can't gain great. They will be trying creon soon.
 
 I hope this helps. Definitely get to a pulmonologist and consider asking about these other options. Good luck -- I know how frustrating the not knowing can be.

mom2owen · Jan 19, 2011

Thanks so much for the great info and welcome. I have been looking at SDS more lately. His white blood count is always slightly elevated and I was told somewhere else that it is usually low in SDS. But, hey, we haven't figured it all out yet so I am sure we shouldn't sit here self-diagnosing!
I want more information about chest physiotherapy. I would also like to know more about the nasal tests. Would a pulmonologist be the one to talk too?
We have been all over the country in the last two years trying to figure out why his health, mostly digestive has declined so rapidly. We mostly went the allergy route since no one would explore CF more closely. I have not heard back from our GI since reporting his weight gain on Creon. It makes me nervous to not hear from them, they are usually so good about calling even when they have to tell me the doctor will call another time. I kind of pushed with PI because it was just a gut feeling after nothing else was working. I am glad I did but I hate being pushy. I am now wondering how I tell the very doctors that swear it cannot be CF that we want to A) complete more in-depth gene testing and B) we want to talk to pulmonology vs. allergy. I can be tough, but right now, I am just tired. And, it always seems like the parents are crazy when they push for more testing of any kind when the doctors did not think of it. Ugh.
Thanks for reading again...

mom2owen · Jan 19, 2011

Thanks so much for the great info and welcome. I have been looking at SDS more lately. His white blood count is always slightly elevated and I was told somewhere else that it is usually low in SDS. But, hey, we haven't figured it all out yet so I am sure we shouldn't sit here self-diagnosing!
I want more information about chest physiotherapy. I would also like to know more about the nasal tests. Would a pulmonologist be the one to talk too?
We have been all over the country in the last two years trying to figure out why his health, mostly digestive has declined so rapidly. We mostly went the allergy route since no one would explore CF more closely. I have not heard back from our GI since reporting his weight gain on Creon. It makes me nervous to not hear from them, they are usually so good about calling even when they have to tell me the doctor will call another time. I kind of pushed with PI because it was just a gut feeling after nothing else was working. I am glad I did but I hate being pushy. I am now wondering how I tell the very doctors that swear it cannot be CF that we want to A) complete more in-depth gene testing and B) we want to talk to pulmonology vs. allergy. I can be tough, but right now, I am just tired. And, it always seems like the parents are crazy when they push for more testing of any kind when the doctors did not think of it. Ugh.
Thanks for reading again...

mom2owen · Jan 19, 2011

Thanks so much for the great info and welcome. I have been looking at SDS more lately. His white blood count is always slightly elevated and I was told somewhere else that it is usually low in SDS. But, hey, we haven't figured it all out yet so I am sure we shouldn't sit here self-diagnosing!
 I want more information about chest physiotherapy. I would also like to know more about the nasal tests. Would a pulmonologist be the one to talk too?
 We have been all over the country in the last two years trying to figure out why his health, mostly digestive has declined so rapidly. We mostly went the allergy route since no one would explore CF more closely. I have not heard back from our GI since reporting his weight gain on Creon. It makes me nervous to not hear from them, they are usually so good about calling even when they have to tell me the doctor will call another time. I kind of pushed with PI because it was just a gut feeling after nothing else was working. I am glad I did but I hate being pushy. I am now wondering how I tell the very doctors that swear it cannot be CF that we want to A) complete more in-depth gene testing and B) we want to talk to pulmonology vs. allergy. I can be tough, but right now, I am just tired. And, it always seems like the parents are crazy when they push for more testing of any kind when the doctors did not think of it. Ugh.
 Thanks for reading again...

ymikhale · Jan 19, 2011

I feel for you about pushing the doctors. I have to do it all the time even though we have a confirmed diagnosis. But unfortunately thre is no other way. You can just politely ask to test for CF just to rule it out (since they think he does not have it)for your peace of mind. If they refuse, ask to put it in the chart that inspite of his symptoms they refuse to test him.

Good luck

ymikhale · Jan 19, 2011

I feel for you about pushing the doctors. I have to do it all the time even though we have a confirmed diagnosis. But unfortunately thre is no other way. You can just politely ask to test for CF just to rule it out (since they think he does not have it)for your peace of mind. If they refuse, ask to put it in the chart that inspite of his symptoms they refuse to test him.

Good luck

not sure what to do, if anything!

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