13 1/2 year old with possible CF?

[Poptart]

First I have to say that you all are some of the kindest and most supportive group of people I have ever witnessed. I have been lurking for a few weeks while we are waiting for gene test to come back. I would love your honest thoughts on my son's situation. I keep wavering between denial and being convinced he has CF. If it is not CF then we are dumbfounded as to what the magic connection is to his illnesses. I would love to hear from all of you who have gone before us is this process as to your thoughts. Does anyone know of any other possibility it could be besides CF? I think what throws everyone off is he is very physically active and involved in competative sports. He just keep pushing through. Here is his story. Sorry so long but I really value your thoughts and experiences.

*Preemie born 6 wks early at 4 lbs
*Began throwing up anything he ate 2 weeks till 5 years
*Vomited up to 20 times a day until we added heavy acid meds
*Diarrhea to super colon 2 months to current
*Severe food and airborne allergies from 2 months
* Reoccurring strep throat every month till 20 months when we removed tonsils and adenoids
3 bouts of pneumonia before 5 years
*Diagnosed with severe GERD 2years to present
*2 sinus surgeries with polyps one at 7 yrs and 11 yrs
* Chronic sinus infections still
*Tested for Pneumonia 13 titers and deficient in 12 of them
*Diagnosed with IBD this year
*Muscle pain
* Fatigue
* Almost 5'10 and 120lbs on a good day
* Get full very quickly (kids cheese burger and a few fries)
*Lots of stomach pain
*Mis-diagnosed with Celiac from age 5-9yrs
*2 negative sweat tests one at 38 (7 yrs old) and one at 16 (13 yrs old)
*CT of sinus this week show moderate thickening of the mucosal lining.
*basic 1 day fecal test was in the 500's so normal
*Currently taking 80mg Nexium, Qvar, Flonase, 10 mg. Nortriptoline for stomach pain, Zyrtec,4 days of prednisone for current sinus infection, 2nd round of Augmentin.

Thoughts?

 

[Poptart]

First I have to say that you all are some of the kindest and most supportive group of people I have ever witnessed. I have been lurking for a few weeks while we are waiting for gene test to come back. I would love your honest thoughts on my son's situation. I keep wavering between denial and being convinced he has CF. If it is not CF then we are dumbfounded as to what the magic connection is to his illnesses. I would love to hear from all of you who have gone before us is this process as to your thoughts. Does anyone know of any other possibility it could be besides CF? I think what throws everyone off is he is very physically active and involved in competative sports. He just keep pushing through. Here is his story. Sorry so long but I really value your thoughts and experiences.

*Preemie born 6 wks early at 4 lbs
*Began throwing up anything he ate 2 weeks till 5 years
*Vomited up to 20 times a day until we added heavy acid meds
*Diarrhea to super colon 2 months to current
*Severe food and airborne allergies from 2 months
* Reoccurring strep throat every month till 20 months when we removed tonsils and adenoids
3 bouts of pneumonia before 5 years
*Diagnosed with severe GERD 2years to present
*2 sinus surgeries with polyps one at 7 yrs and 11 yrs
* Chronic sinus infections still
*Tested for Pneumonia 13 titers and deficient in 12 of them
*Diagnosed with IBD this year
*Muscle pain
* Fatigue
* Almost 5'10 and 120lbs on a good day
* Get full very quickly (kids cheese burger and a few fries)
*Lots of stomach pain
*Mis-diagnosed with Celiac from age 5-9yrs
*2 negative sweat tests one at 38 (7 yrs old) and one at 16 (13 yrs old)
*CT of sinus this week show moderate thickening of the mucosal lining.
*basic 1 day fecal test was in the 500's so normal
*Currently taking 80mg Nexium, Qvar, Flonase, 10 mg. Nortriptoline for stomach pain, Zyrtec,4 days of prednisone for current sinus infection, 2nd round of Augmentin.

Thoughts?

 

[Poptart]

First I have to say that you all are some of the kindest and most supportive group of people I have ever witnessed. I have been lurking for a few weeks while we are waiting for gene test to come back. I would love your honest thoughts on my son's situation. I keep wavering between denial and being convinced he has CF. If it is not CF then we are dumbfounded as to what the magic connection is to his illnesses. I would love to hear from all of you who have gone before us is this process as to your thoughts. Does anyone know of any other possibility it could be besides CF? I think what throws everyone off is he is very physically active and involved in competative sports. He just keep pushing through. Here is his story. Sorry so long but I really value your thoughts and experiences.
<br />
<br />*Preemie born 6 wks early at 4 lbs
<br />*Began throwing up anything he ate 2 weeks till 5 years
<br />*Vomited up to 20 times a day until we added heavy acid meds
<br />*Diarrhea to super colon 2 months to current
<br />*Severe food and airborne allergies from 2 months
<br />* Reoccurring strep throat every month till 20 months when we removed tonsils and adenoids
<br />3 bouts of pneumonia before 5 years
<br />*Diagnosed with severe GERD 2years to present
<br />*2 sinus surgeries with polyps one at 7 yrs and 11 yrs
<br />* Chronic sinus infections still
<br />*Tested for Pneumonia 13 titers and deficient in 12 of them
<br />*Diagnosed with IBD this year
<br />*Muscle pain
<br />* Fatigue
<br />* Almost 5'10 and 120lbs on a good day
<br />* Get full very quickly (kids cheese burger and a few fries)
<br />*Lots of stomach pain
<br />*Mis-diagnosed with Celiac from age 5-9yrs
<br />*2 negative sweat tests one at 38 (7 yrs old) and one at 16 (13 yrs old)
<br />*CT of sinus this week show moderate thickening of the mucosal lining.
<br />*basic 1 day fecal test was in the 500's so normal
<br />*Currently taking 80mg Nexium, Qvar, Flonase, 10 mg. Nortriptoline for stomach pain, Zyrtec,4 days of prednisone for current sinus infection, 2nd round of Augmentin.
<br />
<br />Thoughts?

 

[Havoc]

Wow, that's quite a list. Some things do kind of point in the direction of CF. Some other things stand out. For example, you mention that he gets full very quickly. If he was pancreatic insufficient as many CF patients are, he would be constantly hungry and his fecal test would be abnormal (along with the stomach pain and heartburn/reflux). Having said that, some patients with CF are pancreatic sufficient, meaning that they can digest their food well enough on their own, but that leaves us with what's causing the stomach pain and GERD.

Has he been tested for H Pylori? It's a bacteria that can cause ulcers and stomach pain. Also, what doe he normally culture with his pneumonias and sinusitis?

All the other symptoms, while they can be associated with CF could also be a combination of other disorders. Unfortunately, I think you're going to have to wait for the genetic screen. Also, be aware that there are several screens. There's a simple one that tests for the most common mutations and another that is more comprehensive. If he tests negative for the most common mutations, you may want to get the comprehensive test done (there are 1,000 or so mutations of the CF gene).

It's conceivable that the IBD and chronic sinusitis could be the cause of most of his problems, but I think CF should be ruled out.

It's great that he is active, CF or not. Has he ever had a pulmonary function test? How are his chest xrays or CT scans?

Keep us updated, hopefully you can get to the root of the problem and treat him appropriately

 

[Havoc]

Wow, that's quite a list. Some things do kind of point in the direction of CF. Some other things stand out. For example, you mention that he gets full very quickly. If he was pancreatic insufficient as many CF patients are, he would be constantly hungry and his fecal test would be abnormal (along with the stomach pain and heartburn/reflux). Having said that, some patients with CF are pancreatic sufficient, meaning that they can digest their food well enough on their own, but that leaves us with what's causing the stomach pain and GERD.

Has he been tested for H Pylori? It's a bacteria that can cause ulcers and stomach pain. Also, what doe he normally culture with his pneumonias and sinusitis?

All the other symptoms, while they can be associated with CF could also be a combination of other disorders. Unfortunately, I think you're going to have to wait for the genetic screen. Also, be aware that there are several screens. There's a simple one that tests for the most common mutations and another that is more comprehensive. If he tests negative for the most common mutations, you may want to get the comprehensive test done (there are 1,000 or so mutations of the CF gene).

It's conceivable that the IBD and chronic sinusitis could be the cause of most of his problems, but I think CF should be ruled out.

It's great that he is active, CF or not. Has he ever had a pulmonary function test? How are his chest xrays or CT scans?

Keep us updated, hopefully you can get to the root of the problem and treat him appropriately

 

[Havoc]

Wow, that's quite a list. Some things do kind of point in the direction of CF. Some other things stand out. For example, you mention that he gets full very quickly. If he was pancreatic insufficient as many CF patients are, he would be constantly hungry and his fecal test would be abnormal (along with the stomach pain and heartburn/reflux). Having said that, some patients with CF are pancreatic sufficient, meaning that they can digest their food well enough on their own, but that leaves us with what's causing the stomach pain and GERD.
<br />
<br />Has he been tested for H Pylori? It's a bacteria that can cause ulcers and stomach pain. Also, what doe he normally culture with his pneumonias and sinusitis?
<br />
<br />All the other symptoms, while they can be associated with CF could also be a combination of other disorders. Unfortunately, I think you're going to have to wait for the genetic screen. Also, be aware that there are several screens. There's a simple one that tests for the most common mutations and another that is more comprehensive. If he tests negative for the most common mutations, you may want to get the comprehensive test done (there are 1,000 or so mutations of the CF gene).
<br />
<br />It's conceivable that the IBD and chronic sinusitis could be the cause of most of his problems, but I think CF should be ruled out.
<br />
<br />It's great that he is active, CF or not. Has he ever had a pulmonary function test? How are his chest xrays or CT scans?
<br />
<br />Keep us updated, hopefully you can get to the root of the problem and treat him appropriately

 

[Poptart]

Thanks for responding! The gene test is for the full 1500 panal so I think that should cover it.

He has never been cultured in his sinuses? Not sure what that even means actually.

Does not have ulcers. Has been scoped 5 times and alwways has acid erosion and severe gastritis on the biops.

I don't think he has had a chest X-ray since he was 8.

Gets allergy shots weekly for the last 3 years and saw the doc last month. She tested his lung function and said his function was in the 80's for either the upper or lower air ways. Not sure. But that is why we started on the steriod inhaler. The allergist is the one who is pushing for the diagnosis. She says he should not be this ill with all the shots and preventative stuff we do?

 

[Poptart]

Thanks for responding! The gene test is for the full 1500 panal so I think that should cover it.

He has never been cultured in his sinuses? Not sure what that even means actually.

Does not have ulcers. Has been scoped 5 times and alwways has acid erosion and severe gastritis on the biops.

I don't think he has had a chest X-ray since he was 8.

Gets allergy shots weekly for the last 3 years and saw the doc last month. She tested his lung function and said his function was in the 80's for either the upper or lower air ways. Not sure. But that is why we started on the steriod inhaler. The allergist is the one who is pushing for the diagnosis. She says he should not be this ill with all the shots and preventative stuff we do?

 

[Poptart]

Thanks for responding! The gene test is for the full 1500 panal so I think that should cover it.
<br />
<br />He has never been cultured in his sinuses? Not sure what that even means actually.
<br />
<br />Does not have ulcers. Has been scoped 5 times and alwways has acid erosion and severe gastritis on the biops.
<br />
<br />I don't think he has had a chest X-ray since he was 8.
<br />
<br />Gets allergy shots weekly for the last 3 years and saw the doc last month. She tested his lung function and said his function was in the 80's for either the upper or lower air ways. Not sure. But that is why we started on the steriod inhaler. The allergist is the one who is pushing for the diagnosis. She says he should not be this ill with all the shots and preventative stuff we do?

 

[Havoc]

Good, I'm glad that he's getting the full screen.

Typically in the ENT's office they will take a swab of the nose and send off to see if it grows bacteria, they will also usually do this during the sinus surgeries as well. They can then not only tell which bacteria is growing, but what antibiotics kill it. So it helps better guide treatment. Many times they don't tell you that kind of information, unless you ask.

Regarding the lung function tests, usually they are expressed in large airways and small airways (this is a major generalization). This is the reason for the beclomethasone inhaler, to reduce swelling in the smaller airways. It could be from CF, it could be from his allergies. Really, these kinds of tests are best read by (CF)pulmonologists rather than ENT's.

As far as immunotherapy (allergy shots), it works for some, but not everyone (myself included). Flonase works very well for me. What other preventative treatments are you doing?

The gastritis can explain the vomiting, stomach pain and the GERD. The pneumonias could have begun as a sinusitis that later infected the lungs. While CF is a possible diagnosis, part of me remains uncertain. I can't really explain why I feel that way. If he does have CF, he is certainly atypical in his presentation.

I really wish you luck and I hope you can figure things out. Feel free to ask as many questions as you want. There's a lot of people here who have had kids diagnosed later in life, or diagnosed late in life themselves because of atypical presentations.

 

[Havoc]

Good, I'm glad that he's getting the full screen.

Typically in the ENT's office they will take a swab of the nose and send off to see if it grows bacteria, they will also usually do this during the sinus surgeries as well. They can then not only tell which bacteria is growing, but what antibiotics kill it. So it helps better guide treatment. Many times they don't tell you that kind of information, unless you ask.

Regarding the lung function tests, usually they are expressed in large airways and small airways (this is a major generalization). This is the reason for the beclomethasone inhaler, to reduce swelling in the smaller airways. It could be from CF, it could be from his allergies. Really, these kinds of tests are best read by (CF)pulmonologists rather than ENT's.

As far as immunotherapy (allergy shots), it works for some, but not everyone (myself included). Flonase works very well for me. What other preventative treatments are you doing?

The gastritis can explain the vomiting, stomach pain and the GERD. The pneumonias could have begun as a sinusitis that later infected the lungs. While CF is a possible diagnosis, part of me remains uncertain. I can't really explain why I feel that way. If he does have CF, he is certainly atypical in his presentation.

I really wish you luck and I hope you can figure things out. Feel free to ask as many questions as you want. There's a lot of people here who have had kids diagnosed later in life, or diagnosed late in life themselves because of atypical presentations.

 

[Havoc]

Good, I'm glad that he's getting the full screen.
<br />
<br />Typically in the ENT's office they will take a swab of the nose and send off to see if it grows bacteria, they will also usually do this during the sinus surgeries as well. They can then not only tell which bacteria is growing, but what antibiotics kill it. So it helps better guide treatment. Many times they don't tell you that kind of information, unless you ask.
<br />
<br />Regarding the lung function tests, usually they are expressed in large airways and small airways (this is a major generalization). This is the reason for the beclomethasone inhaler, to reduce swelling in the smaller airways. It could be from CF, it could be from his allergies. Really, these kinds of tests are best read by (CF)pulmonologists rather than ENT's.
<br />
<br />As far as immunotherapy (allergy shots), it works for some, but not everyone (myself included). Flonase works very well for me. What other preventative treatments are you doing?
<br />
<br />The gastritis can explain the vomiting, stomach pain and the GERD. The pneumonias could have begun as a sinusitis that later infected the lungs. While CF is a possible diagnosis, part of me remains uncertain. I can't really explain why I feel that way. If he does have CF, he is certainly atypical in his presentation.
<br />
<br />I really wish you luck and I hope you can figure things out. Feel free to ask as many questions as you want. There's a lot of people here who have had kids diagnosed later in life, or diagnosed late in life themselves because of atypical presentations.

 

[JustDucky]

Definitely get cultures to see if there are bacteria in the sinuses/sputum. I also think he might benefit from immunological testing to see if he is deficient in any way as far as his immune system goes. It's great that his doc is being proactive in his diagnosis. I hope you find answers. Keeping you both in my thoughts and prayers for a speedy diagnosis....if it does turn out to be CF, then you will know and his treatment can be tweaked, if it isn't, then something surely is causing all of these problems with him.
Jenn

 

[JustDucky]

Definitely get cultures to see if there are bacteria in the sinuses/sputum. I also think he might benefit from immunological testing to see if he is deficient in any way as far as his immune system goes. It's great that his doc is being proactive in his diagnosis. I hope you find answers. Keeping you both in my thoughts and prayers for a speedy diagnosis....if it does turn out to be CF, then you will know and his treatment can be tweaked, if it isn't, then something surely is causing all of these problems with him.
Jenn

 

[JustDucky]

Definitely get cultures to see if there are bacteria in the sinuses/sputum. I also think he might benefit from immunological testing to see if he is deficient in any way as far as his immune system goes. It's great that his doc is being proactive in his diagnosis. I hope you find answers. Keeping you both in my thoughts and prayers for a speedy diagnosis....if it does turn out to be CF, then you will know and his treatment can be tweaked, if it isn't, then something surely is causing all of these problems with him.
<br />Jenn