Abnormal results from colon tissue test, suggestive of CF

[LouLou]

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.
<br />
<br />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.

 

[Mistyjo]

I will post after I talk to Cf speicialist. I will definitely question the diagnosis of CRMS. I want her to have the best care possible. Her sweat test were both borderline one was 50. She couldn't finish the NPD but the first stage she made it thru was also borderline -30 and -30 and below is suggestive of CF. She is low on vitamin D but not on any other vitamins. Her fecal elestase was normal, however, she is and has been failure to thrive. So considering the chronic constipation and on/off diagnosis of FTT since birth, 2 borderline sweats, borderline NpD, abnormal colon tissue test, 2 gene mutations, I think this is enough for a CF diagnosis, but that's just my opinion.

It's great he has no symptoms, but you don't know what the future holds for him so he needs the best care he can get! Good job fighting for your son. And take care of yourself.

 

[Mistyjo]

I will post after I talk to Cf speicialist. I will definitely question the diagnosis of CRMS. I want her to have the best care possible. Her sweat test were both borderline one was 50. She couldn't finish the NPD but the first stage she made it thru was also borderline -30 and -30 and below is suggestive of CF. She is low on vitamin D but not on any other vitamins. Her fecal elestase was normal, however, she is and has been failure to thrive. So considering the chronic constipation and on/off diagnosis of FTT since birth, 2 borderline sweats, borderline NpD, abnormal colon tissue test, 2 gene mutations, I think this is enough for a CF diagnosis, but that's just my opinion.

It's great he has no symptoms, but you don't know what the future holds for him so he needs the best care he can get! Good job fighting for your son. And take care of yourself.

 

[Mistyjo]

I will post after I talk to Cf speicialist. I will definitely question the diagnosis of CRMS. I want her to have the best care possible. Her sweat test were both borderline one was 50. She couldn't finish the NPD but the first stage she made it thru was also borderline -30 and -30 and below is suggestive of CF. She is low on vitamin D but not on any other vitamins. Her fecal elestase was normal, however, she is and has been failure to thrive. So considering the chronic constipation and on/off diagnosis of FTT since birth, 2 borderline sweats, borderline NpD, abnormal colon tissue test, 2 gene mutations, I think this is enough for a CF diagnosis, but that's just my opinion.
<br />
<br />It's great he has no symptoms, but you don't know what the future holds for him so he needs the best care he can get! Good job fighting for your son. And take care of yourself.

 

[hmw]

I found a GREAT link describing the NPD test, comparing how normal vs. CF results would look. It was SO interesting to compare this with Shawn's NPD test results. Oh and BTW my son's results also say that a baseline of -30 to -75 is typically seen in those with CF. By comparison- my son has had similar sweat test results (as high as 54) and his baseline was -7 on the right and -15 on the left, which is very solidly in the 'non-CF' range so he has been ruled a carrier.

Anyway, if you (or anyone else following this thread) is interested, here is the link> <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">John Hopkins CF Center: Diagnosis: Testing: Nasal Potential Difference</a>

 

[hmw]

I found a GREAT link describing the NPD test, comparing how normal vs. CF results would look. It was SO interesting to compare this with Shawn's NPD test results. Oh and BTW my son's results also say that a baseline of -30 to -75 is typically seen in those with CF. By comparison- my son has had similar sweat test results (as high as 54) and his baseline was -7 on the right and -15 on the left, which is very solidly in the 'non-CF' range so he has been ruled a carrier.

Anyway, if you (or anyone else following this thread) is interested, here is the link> <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">John Hopkins CF Center: Diagnosis: Testing: Nasal Potential Difference</a>

 

[hmw]

I found a GREAT link describing the NPD test, comparing how normal vs. CF results would look. It was SO interesting to compare this with Shawn's NPD test results. Oh and BTW my son's results also say that a baseline of -30 to -75 is typically seen in those with CF. By comparison- my son has had similar sweat test results (as high as 54) and his baseline was -7 on the right and -15 on the left, which is very solidly in the 'non-CF' range so he has been ruled a carrier.
<br />
<br />Anyway, if you (or anyone else following this thread) is interested, here is the link> <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">John Hopkins CF Center: Diagnosis: Testing: Nasal Potential Difference</a>

 

[Mistyjo]

Thanks for the link. Her baseline was -22 on left and -30 on right. The cf specialist said if it had been -5 to -15 he wouldn't do any further testing but since she was borderline yet again he decided to do the colon tissue test especially since she was having bowel resection surgery the following week anyways. I'm hoping I hear something today from him. I know he is still waiting for pathology to finish their part of the testing.

 

[Mistyjo]

Thanks for the link. Her baseline was -22 on left and -30 on right. The cf specialist said if it had been -5 to -15 he wouldn't do any further testing but since she was borderline yet again he decided to do the colon tissue test especially since she was having bowel resection surgery the following week anyways. I'm hoping I hear something today from him. I know he is still waiting for pathology to finish their part of the testing.

 

[Mistyjo]

Thanks for the link. Her baseline was -22 on left and -30 on right. The cf specialist said if it had been -5 to -15 he wouldn't do any further testing but since she was borderline yet again he decided to do the colon tissue test especially since she was having bowel resection surgery the following week anyways. I'm hoping I hear something today from him. I know he is still waiting for pathology to finish their part of the testing.

 

[Beccamom]

This information is so valuable.  The wait for a diagnosis is painful, but then for the specific  diagnosis to have such a tremendous impact on your child's medical care.  Wow!  My DDs pulmonologist is convinced she has a mucus clearing disorder and we go on Wednesday for training from a physical therapist that works at the CF clinic and will begin a trial period with a vest.  My DD has no official dx at this time as all tests are inconclusive, but her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT and IV antibiotics.  We ruled out immunology, alpha 2 antitripsin deficiency, allergies, asthma, etc.  So I am glad my DD is getting the respiratory treatment she needs, but I am concerned that insurance will be a nightmare when our trial period with the vest is over.  I appreciate all of the advice on this forum.  My daughter's health is definately better and the advice I have gotten here about how to advocate for my DD is a direct positive contributor. 

 

[Beccamom]

This information is so valuable. The wait for a diagnosis is painful, but then for thespecific diagnosis to have such a tremendous impact on your child's medical care. Wow! My DDs pulmonologist is convinced she has a mucus clearing disorder and we go on Wednesday for training from a physical therapist that works at the CF clinic and will begin a trial period with a vest. My DD has no official dx at this time as all tests are inconclusive, but her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT and IV antibiotics. We ruled out immunology, alpha 2 antitripsin deficiency, allergies, asthma, etc. So I am glad my DD is getting the respiratory treatment she needs, but I am concerned that insurance will be a nightmare when our trial period with the vest is over. I appreciate all of the advice on this forum. My daughter's health is definately better and the advice I have gotten here about how to advocate for my DD is a direct positive contributor.

 

[Beccamom]

<BR>This information is so valuable. The wait for a diagnosis is painful, but then for thespecific diagnosis to have such a tremendous impact on your child's medical care. Wow! My DDs pulmonologist is convinced she has a mucus clearing disorder and we go on Wednesday for training from a physical therapist that works at the CF clinic and will begin a trial period with a vest. My DD has no official dx at this time as all tests are inconclusive, but her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT and IV antibiotics. We ruled out immunology, alpha 2 antitripsin deficiency, allergies, asthma, etc. So I am glad my DD is getting the respiratory treatment she needs, but I am concerned that insurance will be a nightmare when our trial period with the vest is over. I appreciate all of the advice on this forum. My daughter's health is definately better and the advice I have gotten here about how to advocate for my DD is a direct positive contributor.

 

[Beccamom]

I am so sorry to hear that after all your DD has been through and now getting a dx and then finding out that the dx may not provide your DD with the medical care she needs. Wow! My DD still has no official dx, although her attending pulmonologist is convinced she has a mucus clearning disorder. His fellow was ther person who told me CF was ruled out, but apparently the attending has his own belief. We go on Wednesday for training with the physical therapist that works in our CF clinic. My DD will have a trial period with a vest. Her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT, IV antibiotics and physical therapy for automimmune ethesitis. Her health has significantly improved. Days that we skip chest PT she lays and watches her sister and her friends play and coughs all day, but as long as we are consistent with chest PT and she gets regular exercise she is like a new child. I am so greatful for all of the advice I have gotten from this website. Now I have one more bit of advice to ensure when my DD does get a dx it is one that my insurance company recognizes and accepts. Best wishes and thanks everyone.

 

[Beccamom]

I am so sorry to hear that after all your DD has been through and now getting a dx and then finding out that the dx may not provide your DD with the medical care she needs. Wow! My DD still has no official dx, although her attending pulmonologist is convinced she has a mucus clearning disorder. His fellow was ther person who told me CF was ruled out, but apparently the attending has his own belief. We go on Wednesday for training with the physical therapist that works in our CF clinic. My DD will have a trial period with a vest. Her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT, IV antibiotics and physical therapy for automimmune ethesitis. Her health has significantly improved. Days that we skip chest PT she lays and watches her sister and her friends play and coughs all day, but as long as we are consistent with chest PT and she gets regular exercise she is like a new child. I am so greatful for all of the advice I have gotten from this website. Now I have one more bit of advice to ensure when my DD does get a dx it is one that my insurance company recognizes and accepts. Best wishes and thanks everyone.

 

[Beccamom]

I am so sorry to hear that after all your DD has been through and now getting a dx and then finding out that the dx may not provide your DD with the medical care she needs. Wow! My DD still has no official dx, although her attending pulmonologist is convinced she has a mucus clearning disorder. His fellow was ther person who told me CF was ruled out, but apparently the attending has his own belief. We go on Wednesday for training with the physical therapist that works in our CF clinic. My DD will have a trial period with a vest. Her FEV1 is up from 55% to 97% after 7 weeks of manuel chest PT, IV antibiotics and physical therapy for automimmune ethesitis. Her health has significantly improved. Days that we skip chest PT she lays and watches her sister and her friends play and coughs all day, but as long as we are consistent with chest PT and she gets regular exercise she is like a new child. I am so greatful for all of the advice I have gotten from this website. Now I have one more bit of advice to ensure when my DD does get a dx it is one that my insurance company recognizes and accepts. Best wishes and thanks everyone.