Abnormal results from colon tissue test, suggestive of CF

Mistyjo · Jun 25, 2011

I've already posted about this earlier but here it goes again<img src="i/expressions/face-icon-small-wink.gif" border="0">
My daughter's colon tissue was tested after her bowel resection surgery to try to rule out CF. CF specialist called and said her results were abnormal and it's what he would expect from a child with CF. He mentioned possibly diagnosing her with Cystic Fibrois metabolic syndrome. We keep doing these test to rule out Cf but so far it's not working out that way. She has two cf gene mutations - one is disease causing, the other is not suppose to be disease causing. I really don't know what to think at this point.
Please any thoughts, advice, stories, anything?
I appreciate beccamom and amyr responding to my previous post. Please keep posting! I'm just looking for as many stories as i can to help my daughter.

Mistyjo · Jun 25, 2011

I've already posted about this earlier but here it goes again<img src="i/expressions/face-icon-small-wink.gif" border="0">
My daughter's colon tissue was tested after her bowel resection surgery to try to rule out CF. CF specialist called and said her results were abnormal and it's what he would expect from a child with CF. He mentioned possibly diagnosing her with Cystic Fibrois metabolic syndrome. We keep doing these test to rule out Cf but so far it's not working out that way. She has two cf gene mutations - one is disease causing, the other is not suppose to be disease causing. I really don't know what to think at this point.
Please any thoughts, advice, stories, anything?
I appreciate beccamom and amyr responding to my previous post.Please keep posting! I'mjust looking for as many stories as i can to help my daughter.

Mistyjo · Jun 25, 2011

I've already posted about this earlier but here it goes again<img src="i/expressions/face-icon-small-wink.gif" border="0">
My daughter's colon tissue was tested after her bowel resection surgery to try to rule out CF. CF specialist called and said her results were abnormal and it's what he would expect from a child with CF. He mentioned possibly diagnosing her with Cystic Fibrois metabolic syndrome. We keep doing these test to rule out Cf but so far it's not working out that way. She has two cf gene mutations - one is disease causing, the other is not suppose to be disease causing. I really don't know what to think at this point.
Please any thoughts, advice, stories, anything?
I appreciate beccamom and amyr responding to my previous post.Please keep posting! I'mjust looking for as many stories as i can to help my daughter.

LouLou · Jun 25, 2011

I believe you mean ....
CFTR-Related Metabolic Syndrome (CRMS)
Here's some more info on it.
http://www.cff.org/AboutCF/Testing/CRMS/index.cfm?dspPrintReady=Y
I'd be hesitant to want my child to have this diagnosis. Does it have a diagnostic code such as cystic fibrosis has 277.0 for insurance processing? Since the medical regimin of CRMS is not defined as clearly as cystic fibrosis will insurance hassle you to do things that would be considered typical and routine practice if she instead had a cf diagnosis? I believe it's important to ask what is the motivation to diagnose a child CRMS instead of CF? Will she get superior care if she has a CF diagnosis?
What are the disadvantages to your child having a cf diagnosis? Is she likely to want to join the military? Are you sure CRMS doesn't exclude her too?

My child is likely CRMS but who cares. We call it CF so that he gets the best care possible. Good luck and let me know if you have any questions.

LouLou · Jun 25, 2011

I believe you mean ....
CFTR-Related Metabolic Syndrome (CRMS)
Here's some more info on it.
http://www.cff.org/AboutCF/Testing/CRMS/index.cfm?dspPrintReady=Y
I'd be hesitant to want my child to have this diagnosis. Does it have a diagnostic code such as cystic fibrosis has 277.0 for insurance processing? Since the medical regimin of CRMS is not defined as clearly as cystic fibrosis will insurance hassle you to do things that would be considered typical and routine practice if she instead had a cf diagnosis? I believe it's important to ask what is the motivation to diagnose a child CRMS instead of CF? Will she get superior care if she has a CF diagnosis?
What are the disadvantages to your child having a cf diagnosis? Is she likely to want to join the military? Are you sure CRMS doesn't exclude her too?

My child is likely CRMS but who cares. We call it CF so that he gets the best care possible. Good luck and let me know if you have any questions.

LouLou · Jun 25, 2011

I believe you mean ....
 CFTR-Related Metabolic Syndrome (CRMS)
 Here's some more info on it.
 http://www.cff.org/AboutCF/Testing/CRMS/index.cfm?dspPrintReady=Y
 I'd be hesitant to want my child to have this diagnosis. Does it have a diagnostic code such as cystic fibrosis has 277.0 for insurance processing? Since the medical regimin of CRMS is not defined as clearly as cystic fibrosis will insurance hassle you to do things that would be considered typical and routine practice if she instead had a cf diagnosis? I believe it's important to ask what is the motivation to diagnose a child CRMS instead of CF? Will she get superior care if she has a CF diagnosis?
 What are the disadvantages to your child having a cf diagnosis? Is she likely to want to join the military? Are you sure CRMS doesn't exclude her too?
 
 My child is likely CRMS but who cares. We call it CF so that he gets the best care possible. Good luck and let me know if you have any questions.

Mistyjo · Jun 26, 2011

Unfortunately the diagnosis is not up to me. This is what the CF specialist has mentioned. He keeps trying to rule out Cf but not working out that way. If she has Cf, I want to know so she can get the best care possible. Especially now since she's already had a major bowel resection surgery removing 28 inches of colon! She is low on vitamin D would love to get treatment for that and failure to thrive would also love to get treatment for that. You have some good points, I will ask the CF dr what's the difference and what does it mean as far as quality of care goes. Thanks!

Mistyjo · Jun 26, 2011

Unfortunately the diagnosis is not up to me. This is what the CF specialist has mentioned. He keeps trying to rule out Cf but not working out that way. If she has Cf, I want to know so she can get the best care possible. Especially now since she's already had a major bowel resection surgery removing 28 inches of colon! She is low on vitamin D would love to get treatment for that and failure to thrive would also love to get treatment for that. You have some good points, I will ask the CF dr what's the difference and what does it mean as far as quality of care goes. Thanks!

Mistyjo · Jun 26, 2011

Unfortunately the diagnosis is not up to me. This is what the CF specialist has mentioned. He keeps trying to rule out Cf but not working out that way. If she has Cf, I want to know so she can get the best care possible. Especially now since she's already had a major bowel resection surgery removing 28 inches of colon! She is low on vitamin D would love to get treatment for that and failure to thrive would also love to get treatment for that. You have some good points, I will ask the CF dr what's the difference and what does it mean as far as quality of care goes. Thanks!

hmw · Jun 26, 2011

I agree with Lauren above on the potential pitfalls of getting a CRMS dx vs. CF. Even if it hasn't happened yet, I believe insurance will start using this difference between the dx'es in deciding what they will and won't cover in treatments, to the potential detriment of those with the CRMS dx. Many with 'CRMS' undoubtedly have CF but just are not particularly symptomatic yet. This is very common in children, but they should still be practicing preventative care- and this will become difficult if insurance takes away coverage.
 
 Anyway, if she hasn't yet- she needs fecal elastase and fecal fat testing done to see if that helps explain her failure to thrive. Forgive me if she already has and I don't remember. Treatment with pancreatic enzymes could help her a great deal both with growth/weight gain and vitamin absorption if that is the case. It is NOT uncommon for those with CF to present with one body system before another and kids often have GI involvement before pulmonary.
 
 The abnormal colon tissue results + 2 mutations (regardless of what the 2nd is 'supposed' to do) is strongly suggestive of CF. There are others here who have a 2nd mutation that is supposed to be asymptomatic that present quite typically. Nothing in CF is set in stone. If necessary, get a 2nd opinion for your child with this new info in hand if you are not comfortable with the course of action this dr decides on.
 eta> And I did want to add that most people here are likely very unfamiliar with the colon testing... so may not know what to say. As far as I am concerned, I am very glad there is another test available that can help in this dx process. CF can be very difficult to pin down at times so one more thing at our disposal can be invaluable.

hmw · Jun 26, 2011

I agree with Lauren above on the potential pitfalls of getting a CRMS dx vs. CF. Even if it hasn't happened yet, I believe insurance will start using this difference between the dx'es in deciding what they will and won't cover in treatments, to the potential detriment of those with the CRMS dx. Many with 'CRMS' undoubtedly have CF but just are not particularly symptomatic yet. This is very common in children, but they should still be practicing preventative care- and this will become difficult if insurance takes away coverage.
 
 Anyway, if she hasn't yet- she needs fecal elastase and fecal fat testing done to see if that helps explain her failure to thrive. Forgive me if she already has and I don't remember. Treatment with pancreatic enzymes could help her a great deal both with growth/weight gain and vitamin absorption if that is the case. It is NOT uncommon for those with CF to present with one body system before another and kids often have GI involvement before pulmonary.
 
 The abnormal colon tissue results + 2 mutations (regardless of what the 2nd is 'supposed' to do) is strongly suggestive of CF. There are others here who have a 2nd mutation that is supposed to be asymptomatic that present quite typically. Nothing in CF is set in stone. If necessary, get a 2nd opinion for your child with this new info in hand if you are not comfortable with the course of action this dr decides on.
 eta> And I did want to add that most people here are likely very unfamiliar with the colon testing... so may not know what to say. As far as I am concerned, I am very glad there is another test available that can help in this dx process. CF can be very difficult to pin down at times so one more thing at our disposal can be invaluable.

hmw · Jun 26, 2011

I agree with Lauren above on the potential pitfalls of getting a CRMS dx vs. CF. Even if it hasn't happened yet, I believe insurance will start using this difference between the dx'es in deciding what they will and won't cover in treatments, to the potential detriment of those with the CRMS dx. Many with 'CRMS' undoubtedly have CF but just are not particularly symptomatic yet. This is very common in children, but they should still be practicing preventative care- and this will become difficult if insurance takes away coverage.
 
 Anyway, if she hasn't yet- she needs fecal elastase and fecal fat testing done to see if that helps explain her failure to thrive. Forgive me if she already has and I don't remember. Treatment with pancreatic enzymes could help her a great deal both with growth/weight gain and vitamin absorption if that is the case. It is NOT uncommon for those with CF to present with one body system before another and kids often have GI involvement before pulmonary.
 
 The abnormal colon tissue results + 2 mutations (regardless of what the 2nd is 'supposed' to do) is strongly suggestive of CF. There are others here who have a 2nd mutation that is supposed to be asymptomatic that present quite typically. Nothing in CF is set in stone. If necessary, get a 2nd opinion for your child with this new info in hand if you are not comfortable with the course of action this dr decides on.
 eta> And I did want to add that most people here are likely very unfamiliar with the colon testing... so may not know what to say. As far as I am concerned, I am very glad there is another test available that can help in this dx process. CF can be very difficult to pin down at times so one more thing at our disposal can be invaluable.

LouLou · Jun 26, 2011

Well I don't agree that the diagnosis is not up to you but I know my thinking is unusual that it's negotiable. To me CRMS is a classification of Cystic Fibrosis. I don't agree personally with some of what is said by the CFF regarding CRMS and question theirs (and everyones for that matter) motivations in drawing a clear line in the sand saying CRMS is not CF. As Harriett said, CRMS patients could be CF patients that are just not as symptomatic yet. I reckon that CFF doesn't want CRMS patients diagnosed CF because it will greatly cloud the data of what is typical cf and this makes fund raising very difficult. Let's face it, the disease is much more in need of a cure if we can say it's deadly and 50% of it's population doesn't make it past 18 years old. It's bogus that they are trying to make it so black and white. I think the population is quite educated and can understand subsets of the data and such. Advertising and marketing drives things to be simple stupid since it's a brief moment people make decisions about things like seriousness of a disease. I hope that makes sense, my thinking is difficult to put into words.

I thought the CF Consortium Concensus (google that for interesting stuff) said that one means for diagnosis of CF was 2 mutations with or without positive sweat test with the presence of at least 1 (or maybe it was 2) classic symptom. Failure to thrive is one of the original symptoms found to be linked to cf. To me this patient is clearly a 277.03 but at the very least a 277.09 or just a 277.0.

If someone reads this that can explain to us the benefit of a CRMS diagnosis for the patient over a CF diagnosis please enlighten us. It is my understanding that it is helpful in newborn screening when a child is found to have a positive sweat but only one mutation and no symptoms or when a newborn has two mutations, a negative sweat and no symptoms. The medical community doesn't want to add patients in that don't need the expensive draw on our system unnecessarily nor the expense for the family. Also, giving a cf diagnosis is devistating as we hear often on this site and the medical community kindly doesn't want to give this sort of diagnosis unnecessarily.

For me personally I don't want the medical community to hold back diagnosis regarding anything to do with my family. We'd rather get the information (albeit the process might be expensive), cope and move on. To us this is being educated good steward to our bodies and being proactive against the progression of disease.

That's my 2 cents.

LouLou · Jun 26, 2011

Well I don't agree that the diagnosis is not up to you but I know my thinking is unusual that it's negotiable. To me CRMS is a classification of Cystic Fibrosis. I don't agree personally with some of what is said by the CFF regarding CRMS and question theirs (and everyones for that matter) motivations in drawing a clear line in the sand saying CRMS is not CF. As Harriett said, CRMS patients could be CF patients that are just not as symptomatic yet. I reckon that CFF doesn't want CRMS patients diagnosed CF because it will greatly cloud the data of what is typical cf and this makes fund raising very difficult. Let's face it, the disease is much more in need of a cure if we can say it's deadly and 50% of it's population doesn't make it past 18 years old. It's bogus that they are trying to make it so black and white. I think the population is quite educated and can understand subsets of the data and such. Advertising and marketing drives things to be simple stupid since it's a brief moment people make decisions about things like seriousness of a disease. I hope that makes sense, my thinking is difficult to put into words.

I thought the CF Consortium Concensus (google that for interesting stuff) said that one means for diagnosis of CF was 2 mutations with or without positive sweat test with the presence of at least 1 (or maybe it was 2) classic symptom. Failure to thrive is one of the original symptoms found to be linked to cf. To me this patient is clearly a 277.03 but at the very least a 277.09 or just a 277.0.

If someone reads this that can explain to us the benefit of a CRMS diagnosis for the patient over a CF diagnosis please enlighten us. It is my understanding that it is helpful in newborn screening when a child is found to have a positive sweat but only one mutation and no symptoms or when a newborn has two mutations, a negative sweat and no symptoms. The medical community doesn't want to add patients in that don't need the expensive draw on our system unnecessarily nor the expense for the family. Also, giving a cf diagnosis is devistating as we hear often on this site and the medical community kindly doesn't want to give this sort of diagnosis unnecessarily.

For me personally I don't want the medical community to hold back diagnosis regarding anything to do with my family. We'd rather get the information (albeit the process might be expensive), cope and move on. To us this is being educated good steward to our bodies and being proactive against the progression of disease.

That's my 2 cents.

LouLou · Jun 26, 2011

Well I don't agree that the diagnosis is not up to you but I know my thinking is unusual that it's negotiable. To me CRMS is a classification of Cystic Fibrosis. I don't agree personally with some of what is said by the CFF regarding CRMS and question theirs (and everyones for that matter) motivations in drawing a clear line in the sand saying CRMS is not CF. As Harriett said, CRMS patients could be CF patients that are just not as symptomatic yet. I reckon that CFF doesn't want CRMS patients diagnosed CF because it will greatly cloud the data of what is typical cf and this makes fund raising very difficult. Let's face it, the disease is much more in need of a cure if we can say it's deadly and 50% of it's population doesn't make it past 18 years old. It's bogus that they are trying to make it so black and white. I think the population is quite educated and can understand subsets of the data and such. Advertising and marketing drives things to be simple stupid since it's a brief moment people make decisions about things like seriousness of a disease. I hope that makes sense, my thinking is difficult to put into words.
 
 I thought the CF Consortium Concensus (google that for interesting stuff) said that one means for diagnosis of CF was 2 mutations with or without positive sweat test with the presence of at least 1 (or maybe it was 2) classic symptom. Failure to thrive is one of the original symptoms found to be linked to cf. To me this patient is clearly a 277.03 but at the very least a 277.09 or just a 277.0.
 
 If someone reads this that can explain to us the benefit of a CRMS diagnosis for the patient over a CF diagnosis please enlighten us. It is my understanding that it is helpful in newborn screening when a child is found to have a positive sweat but only one mutation and no symptoms or when a newborn has two mutations, a negative sweat and no symptoms. The medical community doesn't want to add patients in that don't need the expensive draw on our system unnecessarily nor the expense for the family. Also, giving a cf diagnosis is devistating as we hear often on this site and the medical community kindly doesn't want to give this sort of diagnosis unnecessarily.
 
 For me personally I don't want the medical community to hold back diagnosis regarding anything to do with my family. We'd rather get the information (albeit the process might be expensive), cope and move on. To us this is being educated good steward to our bodies and being proactive against the progression of disease.
 
 That's my 2 cents.

Mistyjo · Jun 26, 2011

Thanks for your two cents! I really do appreciate any input especially since this is all new to me. There is family history of cf and now I'm wondering if my Mom was misidiagnosed. She had severe GI problems( multiple hosp stays), chronic pnueomonia and pulmonary fibrosis.
I will definitely quesiton the cf dr. on this diagnosis. I know there are other families on here and another board that have been given the same diagnosis. I really don't understand the reasoning behind it, regardless if they think it's "typical Cf" or not, these patients still need medical care and require lots of the same treatments as "typical Cf" patients.
I agree about knowing the correct diagnosis. I've been fighting for my daughter for years and although I don't want her to have anything wrong the fact is there is definitely something wrong. I need to know how to best take care of her. I can't prepare for the future if I don't know what to expect or what I'm up against. Any more input is greatly appreciated. Please state your opinion.

Mistyjo · Jun 26, 2011

Thanks for your two cents! I really do appreciate any input especially since this is all new to me. There is family history of cf and now I'm wondering if my Mom was misidiagnosed. She had severe GI problems( multiple hosp stays), chronic pnueomonia and pulmonary fibrosis.
I will definitely quesiton the cf dr. on this diagnosis. I know there are other families on here and another board that have been given the same diagnosis. I really don't understand the reasoning behind it, regardless if they think it's "typical Cf" or not, these patients still need medical care and require lots of the same treatments as "typical Cf" patients.
I agree about knowing the correct diagnosis. I've been fighting for my daughter for years and although I don't want her to have anything wrong the fact is there is definitely something wrong. I need to know how to best take care of her. I can't prepare for the future if I don't know what to expect or what I'm up against. Any more input is greatly appreciated. Please state your opinion.

Mistyjo · Jun 26, 2011

Thanks for your two cents! I really do appreciate any input especially since this is all new to me. There is family history of cf and now I'm wondering if my Mom was misidiagnosed. She had severe GI problems( multiple hosp stays), chronic pnueomonia and pulmonary fibrosis.
 I will definitely quesiton the cf dr. on this diagnosis. I know there are other families on here and another board that have been given the same diagnosis. I really don't understand the reasoning behind it, regardless if they think it's "typical Cf" or not, these patients still need medical care and require lots of the same treatments as "typical Cf" patients.
 I agree about knowing the correct diagnosis. I've been fighting for my daughter for years and although I don't want her to have anything wrong the fact is there is definitely something wrong. I need to know how to best take care of her. I can't prepare for the future if I don't know what to expect or what I'm up against. Any more input is greatly appreciated. Please state your opinion.

LouLou · Jun 26, 2011

Thanks for your openness to my opinion Misty. By the way, my son is followed as a cf patient but has never had an official diagnosis that I know of. Behind closed doors, his doctor has said he is probably best defined as CRMS but she is not going to call it that for fear of rejection of tests/drugs/therapies/DME that she and I deem necessary.

He was genetic sequenced (1000+ mutations) due to me having cf. My husband tested negative to 89 mutations but our son was found to have two mutations. He passes the sweat test (at age 2 months and 2 years) with a score of 11. He has no other symptoms. He will be 4 in July.

LouLou · Jun 26, 2011

Thanks for your openness to my opinion Misty. By the way, my son is followed as a cf patient but has never had an official diagnosis that I know of. Behind closed doors, his doctor has said he is probably best defined as CRMS but she is not going to call it that for fear of rejection of tests/drugs/therapies/DME that she and I deem necessary.

He was genetic sequenced (1000+ mutations) due to me having cf. My husband tested negative to 89 mutations but our son was found to have two mutations. He passes the sweat test (at age 2 months and 2 years) with a score of 11. He has no other symptoms. He will be 4 in July.

Abnormal results from colon tissue test, suggestive of CF

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