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I humbly come to you for advice...

jmom

New member
I have come to a dead end with no one else with any experience to ask, so I thought of you. But I come to you HUMBLY because my daughter's problems pale in comparison to what you probably deal with daily. However, if you find it in your heart to spare a little time or insight, I'd greatly appreciate it.
I struggle so much with how hard to push for answers for my daughter. In a nutshell (and you might remember her story), she has had foamy, floating stool since she was a toddler (now 7 years old) and a confirmed fat malabsorption test. (But it was just the simple one.) Doctors have ruled out celiac's and crohn's by biopsies and blood tests. She has had 3 significant episodes of GI bleeding in past years. During one of her colonoscopies, doctor found a strange purple lesion that he had never seen before and could not label. When they went in for surgery a month later to remove that part of her intestine, there was a neat little scar in its place. Half a year later after bleeding a little bit every day for more than a month, another colonscopy found neutrophilic infiltration and colitis. Yet they ruled out inflammatory bowel disease.
Now, HERE'S WHERE I COME TO YOU WITH A FEW QUESTIONS. We just received a negative Ambry amplified genetic test for CF. I had told myself before the results came in that if they were negative, we were DONE, DONE, DONE with all the testing we have put my daughter through. We will STOP trying to find answers. We ought to be so relieved that it's probably not CF. (Her sweat tests were borderline- at least that what her doc called them - 32/33). So tonight, once again, my daughter calls me into the bathroom and there are FOAMY, WHITE BUBBLES floating all over the toilet water. And I know it's coming from her digestive system (not cleaning agents!) because when I go to wipe her, there's more bubbles that look like a dollop of whipped cream on her "poo hole", for lack of a less tacky term! Then another episode later, there are floating "blobs" of orange in the toilet. Not like an oil slick...but like "blobs." This has been typical of her for years now when she is having problems. IS THIS FAT MALABSORPTION? I feel like a "looney" mom sometimes... WHO describes that their kid is blowing bubbles out their rear end?!! IS THIS NORMAL? I just want to find a mom that will tell me that healthy kids just do this sometimes - don't worry. OR, if this is fat malabsorption, I need to know. That's why I'm asking you, since you often deal with fat malabsorption. Have you ever seen this in your child?
I've been told that fat malabsorption in children is not common, or if it occurs, it's almost always because of CF or Celiacs or Crohn's. Well, we've ruled these out. Can you see why I'm frustrated? Can you see why I come to you wanting to know if my daughter truly HAS fat malabsorption??? Should I just drop the whole thing and stop worrying?
WOW,IF ANYONE HAS STUCK WITH THIS LONG MESSAGE and not stopped reading halfway through, I thank you so much for your time! Please help relieve a mom's spinning mind and if you have any insight at all about the fat malabsorption thing, it is much appreciated!
 

jmom

New member
I have come to a dead end with no one else with any experience to ask, so I thought of you. But I come to you HUMBLY because my daughter's problems pale in comparison to what you probably deal with daily. However, if you find it in your heart to spare a little time or insight, I'd greatly appreciate it.
I struggle so much with how hard to push for answers for my daughter. In a nutshell (and you might remember her story), she has had foamy, floating stool since she was a toddler (now 7 years old) and a confirmed fat malabsorption test. (But it was just the simple one.) Doctors have ruled out celiac's and crohn's by biopsies and blood tests. She has had 3 significant episodes of GI bleeding in past years. During one of her colonoscopies, doctor found a strange purple lesion that he had never seen before and could not label. When they went in for surgery a month later to remove that part of her intestine, there was a neat little scar in its place. Half a year later after bleeding a little bit every day for more than a month, another colonscopy found neutrophilic infiltration and colitis. Yet they ruled out inflammatory bowel disease.
Now, HERE'S WHERE I COME TO YOU WITH A FEW QUESTIONS. We just received a negative Ambry amplified genetic test for CF. I had told myself before the results came in that if they were negative, we were DONE, DONE, DONE with all the testing we have put my daughter through. We will STOP trying to find answers. We ought to be so relieved that it's probably not CF. (Her sweat tests were borderline- at least that what her doc called them - 32/33). So tonight, once again, my daughter calls me into the bathroom and there are FOAMY, WHITE BUBBLES floating all over the toilet water. And I know it's coming from her digestive system (not cleaning agents!) because when I go to wipe her, there's more bubbles that look like a dollop of whipped cream on her "poo hole", for lack of a less tacky term! Then another episode later, there are floating "blobs" of orange in the toilet. Not like an oil slick...but like "blobs." This has been typical of her for years now when she is having problems. IS THIS FAT MALABSORPTION? I feel like a "looney" mom sometimes... WHO describes that their kid is blowing bubbles out their rear end?!! IS THIS NORMAL? I just want to find a mom that will tell me that healthy kids just do this sometimes - don't worry. OR, if this is fat malabsorption, I need to know. That's why I'm asking you, since you often deal with fat malabsorption. Have you ever seen this in your child?
I've been told that fat malabsorption in children is not common, or if it occurs, it's almost always because of CF or Celiacs or Crohn's. Well, we've ruled these out. Can you see why I'm frustrated? Can you see why I come to you wanting to know if my daughter truly HAS fat malabsorption??? Should I just drop the whole thing and stop worrying?
WOW,IF ANYONE HAS STUCK WITH THIS LONG MESSAGE and not stopped reading halfway through, I thank you so much for your time! Please help relieve a mom's spinning mind and if you have any insight at all about the fat malabsorption thing, it is much appreciated!
 

jmom

New member
I have come to a dead end with no one else with any experience to ask, so I thought of you. But I come to you HUMBLY because my daughter's problems pale in comparison to what you probably deal with daily. However, if you find it in your heart to spare a little time or insight, I'd greatly appreciate it.
<br /> I struggle so much with how hard to push for answers for my daughter. In a nutshell (and you might remember her story), she has had foamy, floating stool since she was a toddler (now 7 years old) and a confirmed fat malabsorption test. (But it was just the simple one.) Doctors have ruled out celiac's and crohn's by biopsies and blood tests. She has had 3 significant episodes of GI bleeding in past years. During one of her colonoscopies, doctor found a strange purple lesion that he had never seen before and could not label. When they went in for surgery a month later to remove that part of her intestine, there was a neat little scar in its place. Half a year later after bleeding a little bit every day for more than a month, another colonscopy found neutrophilic infiltration and colitis. Yet they ruled out inflammatory bowel disease.
<br /> Now, HERE'S WHERE I COME TO YOU WITH A FEW QUESTIONS. We just received a negative Ambry amplified genetic test for CF. I had told myself before the results came in that if they were negative, we were DONE, DONE, DONE with all the testing we have put my daughter through. We will STOP trying to find answers. We ought to be so relieved that it's probably not CF. (Her sweat tests were borderline- at least that what her doc called them - 32/33). So tonight, once again, my daughter calls me into the bathroom and there are FOAMY, WHITE BUBBLES floating all over the toilet water. And I know it's coming from her digestive system (not cleaning agents!) because when I go to wipe her, there's more bubbles that look like a dollop of whipped cream on her "poo hole", for lack of a less tacky term! Then another episode later, there are floating "blobs" of orange in the toilet. Not like an oil slick...but like "blobs." This has been typical of her for years now when she is having problems. IS THIS FAT MALABSORPTION? I feel like a "looney" mom sometimes... WHO describes that their kid is blowing bubbles out their rear end?!! IS THIS NORMAL? I just want to find a mom that will tell me that healthy kids just do this sometimes - don't worry. OR, if this is fat malabsorption, I need to know. That's why I'm asking you, since you often deal with fat malabsorption. Have you ever seen this in your child?
<br />I've been told that fat malabsorption in children is not common, or if it occurs, it's almost always because of CF or Celiacs or Crohn's. Well, we've ruled these out. Can you see why I'm frustrated? Can you see why I come to you wanting to know if my daughter truly HAS fat malabsorption??? Should I just drop the whole thing and stop worrying?
<br />WOW,IF ANYONE HAS STUCK WITH THIS LONG MESSAGE and not stopped reading halfway through, I thank you so much for your time! Please help relieve a mom's spinning mind and if you have any insight at all about the fat malabsorption thing, it is much appreciated!
<br />
 

hmw

New member
<div class="FTQUOTE"><begin quote>and a confirmed fat malabsorption test</end quote></div>
Floating orange sounds like undigested fat to me. It's definitely something I've seen before. And a positive fecal fat test is proof that she is not digesting fat- they found it in her stool. Did she have a fecal elastase test done to check for pancreatic insufficiency? Forgive me if you've already told us that, I can't remember. If not, she should... and pancreatic insufficiency is not limited to cf, so esp given she's known to be malabsorbing, that should be checked for so she can go on enzymes if she needs them. Has she been checked for Shwachman-Diamond Syndrome? It is the 2nd most common cause for pancreatic insufficiency in children and can be tested for genetically.

Chronic malabsorption is generally associated with poor growth or gain, but kids don't necessarily 'stop' growing... the rate may just gradually slow over time and you may see a falling off of her curve on the growth chart looking back over time.

There are more disorders that involve malabsorption than just CF, Crohns and Celiac... you may well need to take her for more opinions to tease this out if it's not CF. However, if she has respiratory symptoms and other concerns, it will be harder to figure this out... you need an answer that will address all of this.
 

hmw

New member
<div class="FTQUOTE"><begin quote>and a confirmed fat malabsorption test</end quote>
Floating orange sounds like undigested fat to me. It's definitely something I've seen before. And a positive fecal fat test is proof that she is not digesting fat- they found it in her stool. Did she have a fecal elastase test done to check for pancreatic insufficiency? Forgive me if you've already told us that, I can't remember. If not, she should... and pancreatic insufficiency is not limited to cf, so esp given she's known to be malabsorbing, that should be checked for so she can go on enzymes if she needs them. Has she been checked for Shwachman-Diamond Syndrome? It is the 2nd most common cause for pancreatic insufficiency in children and can be tested for genetically.

Chronic malabsorption is generally associated with poor growth or gain, but kids don't necessarily 'stop' growing... the rate may just gradually slow over time and you may see a falling off of her curve on the growth chart looking back over time.

There are more disorders that involve malabsorption than just CF, Crohns and Celiac... you may well need to take her for more opinions to tease this out if it's not CF. However, if she has respiratory symptoms and other concerns, it will be harder to figure this out... you need an answer that will address all of this.
 

hmw

New member
<div class="FTQUOTE"><begin quote>and a confirmed fat malabsorption test</end quote>
<br />Floating orange sounds like undigested fat to me. It's definitely something I've seen before. And a positive fecal fat test is proof that she is not digesting fat- they found it in her stool. Did she have a fecal elastase test done to check for pancreatic insufficiency? Forgive me if you've already told us that, I can't remember. If not, she should... and pancreatic insufficiency is not limited to cf, so esp given she's known to be malabsorbing, that should be checked for so she can go on enzymes if she needs them. Has she been checked for Shwachman-Diamond Syndrome? It is the 2nd most common cause for pancreatic insufficiency in children and can be tested for genetically.
<br />
<br />Chronic malabsorption is generally associated with poor growth or gain, but kids don't necessarily 'stop' growing... the rate may just gradually slow over time and you may see a falling off of her curve on the growth chart looking back over time.
<br />
<br />There are more disorders that involve malabsorption than just CF, Crohns and Celiac... you may well need to take her for more opinions to tease this out if it's not CF. However, if she has respiratory symptoms and other concerns, it will be harder to figure this out... you need an answer that will address all of this.
 
C

Cherylwithone

Guest
I agree with Harriett. IT really sounds like what we have all seen from our kids. I would keep pushing. Are you at a large Children's Hospital? What you discribe is not normal in a child. If you can go on line and research what Children's hospitals are top in the GI department. Email them and maybe they can contact her doctor and help out.

By the way, I did read your entire post.
 
C

Cherylwithone

Guest
I agree with Harriett. IT really sounds like what we have all seen from our kids. I would keep pushing. Are you at a large Children's Hospital? What you discribe is not normal in a child. If you can go on line and research what Children's hospitals are top in the GI department. Email them and maybe they can contact her doctor and help out.

By the way, I did read your entire post.
 
C

Cherylwithone

Guest
I agree with Harriett. IT really sounds like what we have all seen from our kids. I would keep pushing. Are you at a large Children's Hospital? What you discribe is not normal in a child. If you can go on line and research what Children's hospitals are top in the GI department. Email them and maybe they can contact her doctor and help out.
<br />
<br />By the way, I did read your entire post.
 

auntcob

New member
HI--Has anyone ever mentioned Shwachman-Diamond Syndrome to you? It is the second leading cause of pancreatic insufficiency in children and is a differential diagnosis for CF. One of the leading experts and very accessible doctor is Dr Richard Harris at Cincinnati Children's. Because my son has a "blurry" diagnosis, I began to research other causes of PI--he definitely has this and is so much better on Zenpep. The other main symptom of SDS is some type of bone marrow disorder or blood issues. The most common is neutropenia--low white counts. But, alot of children have cyclical neutropenia, so it does not always show up in bloodwork. Another distinguishing characteristic is short stature and/or skeletal abnormalities like short ribs, scoliosis, pectus excavatum, etc.

BUT--like CF, presentations are very unique. They have recently discover the gene and are just in the infancy of the research on genotypes and phenotypes. It is similar to when the CFTR gene was discovered--------so much has been learned since then.

I wrote Dr. Harris an email and explained my concerns with Adam. Much to my surprise, he forwarded the email to his nurse and asked her to contact me. I did not reply right away and I got a second email from them--Dr. Harris asked his nurse to follow-up with us. Then, they called two times! In the end, they want to see him. They think there is enough there to warrant a look. They are reviewing his records and we will be going to cincy sometime in the near future. Since you do not mention lung problems, this might be something to at least explore.

There is a national foundation with local contacts. The women I emailed from my area was very helpful. They have a group on yahoo as well.

Sorry for the ramble----PM me if you'd like

Best,

Chris
 

auntcob

New member
HI--Has anyone ever mentioned Shwachman-Diamond Syndrome to you? It is the second leading cause of pancreatic insufficiency in children and is a differential diagnosis for CF. One of the leading experts and very accessible doctor is Dr Richard Harris at Cincinnati Children's. Because my son has a "blurry" diagnosis, I began to research other causes of PI--he definitely has this and is so much better on Zenpep. The other main symptom of SDS is some type of bone marrow disorder or blood issues. The most common is neutropenia--low white counts. But, alot of children have cyclical neutropenia, so it does not always show up in bloodwork. Another distinguishing characteristic is short stature and/or skeletal abnormalities like short ribs, scoliosis, pectus excavatum, etc.

BUT--like CF, presentations are very unique. They have recently discover the gene and are just in the infancy of the research on genotypes and phenotypes. It is similar to when the CFTR gene was discovered--------so much has been learned since then.

I wrote Dr. Harris an email and explained my concerns with Adam. Much to my surprise, he forwarded the email to his nurse and asked her to contact me. I did not reply right away and I got a second email from them--Dr. Harris asked his nurse to follow-up with us. Then, they called two times! In the end, they want to see him. They think there is enough there to warrant a look. They are reviewing his records and we will be going to cincy sometime in the near future. Since you do not mention lung problems, this might be something to at least explore.

There is a national foundation with local contacts. The women I emailed from my area was very helpful. They have a group on yahoo as well.

Sorry for the ramble----PM me if you'd like

Best,

Chris
 

auntcob

New member
HI--Has anyone ever mentioned Shwachman-Diamond Syndrome to you? It is the second leading cause of pancreatic insufficiency in children and is a differential diagnosis for CF. One of the leading experts and very accessible doctor is Dr Richard Harris at Cincinnati Children's. Because my son has a "blurry" diagnosis, I began to research other causes of PI--he definitely has this and is so much better on Zenpep. The other main symptom of SDS is some type of bone marrow disorder or blood issues. The most common is neutropenia--low white counts. But, alot of children have cyclical neutropenia, so it does not always show up in bloodwork. Another distinguishing characteristic is short stature and/or skeletal abnormalities like short ribs, scoliosis, pectus excavatum, etc.
<br />
<br />BUT--like CF, presentations are very unique. They have recently discover the gene and are just in the infancy of the research on genotypes and phenotypes. It is similar to when the CFTR gene was discovered--------so much has been learned since then.
<br />
<br />I wrote Dr. Harris an email and explained my concerns with Adam. Much to my surprise, he forwarded the email to his nurse and asked her to contact me. I did not reply right away and I got a second email from them--Dr. Harris asked his nurse to follow-up with us. Then, they called two times! In the end, they want to see him. They think there is enough there to warrant a look. They are reviewing his records and we will be going to cincy sometime in the near future. Since you do not mention lung problems, this might be something to at least explore.
<br />
<br />There is a national foundation with local contacts. The women I emailed from my area was very helpful. They have a group on yahoo as well.
<br />
<br />Sorry for the ramble----PM me if you'd like
<br />
<br />Best,
<br />
<br />Chris
 

LouLou

New member
Take a picture and include it in the emails you send. A picture speaks a thousand words. Has she had vitamin testing for ADE & K? I would imagine with malabsorption like that she probably isn't digesting these fat soluble vitamins properly.

You are an awesome mom to not give up...not crazy AT ALL!! Keep pushing!
 

LouLou

New member
Take a picture and include it in the emails you send. A picture speaks a thousand words. Has she had vitamin testing for ADE & K? I would imagine with malabsorption like that she probably isn't digesting these fat soluble vitamins properly.

You are an awesome mom to not give up...not crazy AT ALL!! Keep pushing!
 

LouLou

New member
Take a picture and include it in the emails you send. A picture speaks a thousand words. Has she had vitamin testing for ADE & K? I would imagine with malabsorption like that she probably isn't digesting these fat soluble vitamins properly.
<br />
<br />You are an awesome mom to not give up...not crazy AT ALL!! Keep pushing!
 

jmom

New member
Chris, Cheryl, and Lauren-
Your response means more than you know! Cheryl...like I said, long message...THANKS for sticking with it!!! All of you! Especially since we don't have a diagnosis of CF - yet you are willing to help me. Best wishes to your children! Lauren - funny you mention the photos...I brought a photo of the "bubble bath-looking stuff" ( scooped it up into a cup) to her GI specialist; he said the same thing you all are saying...this is not normal. It got his attention like you said. That's when he suggested CF. Now that we've "ruled" this out, he says he has no idea, but because her vitamin levels are borderline ok, and she looks healthy, and she's growing, we'll do the "wait and see" thing. As you can tell, I'm torn between trusting the doctor and worrying we're missing something.
Chris - I will send you a pm - thanks for the info!!!! Harriet mentioned this syndrome too.
Does anyone know how accurate the one-time fat malabsorption test is? Can it have a false positive?
By the way, if ever I have the chance to support an organization's fundraising efforts, I will think of all of you! And your children are in my prayers at night!
 

jmom

New member
Chris, Cheryl, and Lauren-
Your response means more than you know! Cheryl...like I said, long message...THANKS for sticking with it!!! All of you! Especially since we don't have a diagnosis of CF - yet you are willing to help me. Best wishes to your children! Lauren - funny you mention the photos...I brought a photo of the "bubble bath-looking stuff" ( scooped it up into a cup) to her GI specialist; he said the same thing you all are saying...this is not normal. It got his attention like you said. That's when he suggested CF. Now that we've "ruled" this out, he says he has no idea, but because her vitamin levels are borderline ok, and she looks healthy, and she's growing, we'll do the "wait and see" thing. As you can tell, I'm torn between trusting the doctor and worrying we're missing something.
Chris - I will send you a pm - thanks for the info!!!! Harriet mentioned this syndrome too.
Does anyone know how accurate the one-time fat malabsorption test is? Can it have a false positive?
By the way, if ever I have the chance to support an organization's fundraising efforts, I will think of all of you! And your children are in my prayers at night!
 

jmom

New member
Chris, Cheryl, and Lauren-
<br />Your response means more than you know! Cheryl...like I said, long message...THANKS for sticking with it!!! All of you! Especially since we don't have a diagnosis of CF - yet you are willing to help me. Best wishes to your children! Lauren - funny you mention the photos...I brought a photo of the "bubble bath-looking stuff" ( scooped it up into a cup) to her GI specialist; he said the same thing you all are saying...this is not normal. It got his attention like you said. That's when he suggested CF. Now that we've "ruled" this out, he says he has no idea, but because her vitamin levels are borderline ok, and she looks healthy, and she's growing, we'll do the "wait and see" thing. As you can tell, I'm torn between trusting the doctor and worrying we're missing something.
<br /> Chris - I will send you a pm - thanks for the info!!!! Harriet mentioned this syndrome too.
<br />Does anyone know how accurate the one-time fat malabsorption test is? Can it have a false positive?
<br />By the way, if ever I have the chance to support an organization's fundraising efforts, I will think of all of you! And your children are in my prayers at night!
<br />
 

ehtansky21

New member
I have been doing some research on gluten intolerance lately, as I will be writing a post on it in my blog....
Just because your daughter is not testing positive for Crohns or Celiacs does not mean she can handle gluten....
The blood tests are not very indicative of how they are tolerating gluten.....a saliva or stool test, testing for AGA (antigliadin IgA antibodies)is much more accurate and recommended.

I would suggest looking into those tests....once you go off gluten, you will not be able to get an accurate reading, so if you want definites, get the test first.

blessings,
missa
 

ehtansky21

New member
I have been doing some research on gluten intolerance lately, as I will be writing a post on it in my blog....
Just because your daughter is not testing positive for Crohns or Celiacs does not mean she can handle gluten....
The blood tests are not very indicative of how they are tolerating gluten.....a saliva or stool test, testing for AGA (antigliadin IgA antibodies)is much more accurate and recommended.

I would suggest looking into those tests....once you go off gluten, you will not be able to get an accurate reading, so if you want definites, get the test first.

blessings,
missa
 
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