After reading thru the posts on atypical cf , I am very concerned for my 5yo daughter. She is currently diagnosed as cystic fibrosis metabolic syndrome by a cf specialist in a cf accredited childrens hospital. He is also one of the few cf docs that are testing colon tissue for cftr function. My daughter has NO cftr function in her colon and two borderline sweats, ftt (despite normal fecal elestase), chronic constipation with bowel resection, TONS of THICK mucus in stools, periodically low vitamin D. She only had respiratory probs the first two yrs of life and then she was constantly sick with something resp and GI probs. The only resp symptoms now is croup. She has two cf gene mutations, one disease causing the other they didn't think was disease causing but now know that neither gene works right.I am printing off some of the comments made about cf metabolic syndrome and taking them to the cf specialist when we go back next month. I want to make sure we have no regrets yrs from now about her care. Any advice?<br>
Now worried after reading posts on atypical cf or cf metabolic syndrome
- Thread starter Mistyjo
- Start date
After reading thru the posts on atypical cf , I am very concerned for my 5yodaughter. She is currently diagnosed as cystic fibrosis metabolic syndrome by a cf specialist in a cf accredited childrens hospital. He is also one of the few cf docs that are testing colon tissue for cftr function. My daughter has NO cftr function in her colon and two borderline sweats, ftt (despite normal fecal elestase), chronic constipation with bowel resection, TONS of THICK mucus in stools, periodically low vitamin D. She only had respiratory probs the first two yrs of life and then she was constantly sick with something resp and GI probs. The only resp symptoms now is croup. She has two cf gene mutations, one disease causing the other they didn't think was disease causing but now know that neither gene works right.I am printing off some of the comments made about cf metabolic syndrome and taking them to the cf specialist when we go back next month. I want to make sure we have no regrets yrs from now about her care. Any advice?<br>
<p>After reading thru the posts on atypical cf , I am very concerned for my 5yodaughter. She is currently diagnosed as cystic fibrosis metabolic syndrome by a cf specialist in a cf accredited childrens hospital. He is also one of the few cf docs that are testing colon tissue for cftr function. My daughter has NO cftr function in her colon and two borderline sweats, ftt (despite normal fecal elestase), chronic constipation with bowel resection, TONS of THICK mucus in stools, periodically low vitamin D. She only had respiratory probs the first two yrs of life and then she was constantly sick with something resp and GI probs. The only resp symptoms now is croup. She has two cf gene mutations, one disease causing the other they didn't think was disease causing but now know that neither gene works right.<p>I am printing off some of the comments made about cf metabolic syndrome and taking them to the cf specialist when we go back next month. I want to make sure we have no regrets yrs from now about her care. <p>Any advice?<br>
E
edan
Guest
Hi Mistyjo.
1.) Where are you being seen?
2.) What are her sweat test numbers?
3.) What are her mutations?
4.) Are you treating her with the meds/therapies that all cf kids get anyway?
With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
Take care and if you have doubts, by all means get a second opinion!!!
Edan.
1.) Where are you being seen?
2.) What are her sweat test numbers?
3.) What are her mutations?
4.) Are you treating her with the meds/therapies that all cf kids get anyway?
With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
Take care and if you have doubts, by all means get a second opinion!!!
Edan.
E
edan
Guest
Hi Mistyjo.
1.) Where are you being seen?
2.) What are her sweat test numbers?
3.) What are her mutations?
4.) Are you treating her with the meds/therapies that all cf kids get anyway?
With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
Take care and if you have doubts, by all means get a second opinion!!!
Edan.
1.) Where are you being seen?
2.) What are her sweat test numbers?
3.) What are her mutations?
4.) Are you treating her with the meds/therapies that all cf kids get anyway?
With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
Take care and if you have doubts, by all means get a second opinion!!!
Edan.
E
edan
Guest
Hi Mistyjo.
<br />
<br />1.) Where are you being seen?
<br />2.) What are her sweat test numbers?
<br />3.) What are her mutations?
<br />4.) Are you treating her with the meds/therapies that all cf kids get anyway?
<br />
<br />With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
<br />
<br />Take care and if you have doubts, by all means get a second opinion!!!
<br />
<br />Edan.
<br />
<br />
<br />
<br />1.) Where are you being seen?
<br />2.) What are her sweat test numbers?
<br />3.) What are her mutations?
<br />4.) Are you treating her with the meds/therapies that all cf kids get anyway?
<br />
<br />With all of the new genes they keep finding, it could be that she has one that they haven't even found yet. Anyway, as I have said here before, my daughter has 2 known disease causing mutations. The second is a class V, milder one. She is pancreatic sufficient, no mucus in stools and had 2 or 3 minor colds through her first 3.5 years of life. Never bronchitis, never pneumonia. But she HAS CF and we give her 2 treatments a day with vest. Although we are happy with our current clinic and comfortable with the diagnosis, I have taken her chart to University of Minnesota and just got back from taking her to Stanford for a second opinion as well...just to make sure I have no regrets either.
<br />
<br />Take care and if you have doubts, by all means get a second opinion!!!
<br />
<br />Edan.
<br />
<br />
Mistyjo:
<br />
<br />Google "Atypical Cystic Fibrosis" then look for a paper published by the JOURNAL OF THE ROYAL SOCIETY OF MEDICINE, titled "Atypical cystic fibrosis-diagnostic and management dilemmas".
<br />
<br />It is 10 pages but extremely informative.
<br />
<br />Bill
<br />
<br />Google "Atypical Cystic Fibrosis" then look for a paper published by the JOURNAL OF THE ROYAL SOCIETY OF MEDICINE, titled "Atypical cystic fibrosis-diagnostic and management dilemmas".
<br />
<br />It is 10 pages but extremely informative.
<br />
<br />Bill
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt. We go to Cincinnati Childrens.
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt. We go to Cincinnati Childrens.
<p>Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.<p>I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt. <p>We go to Cincinnati Childrens.
edited since I misunderstood your first post and her specific dx. <img src="i/expressions/face-icon-small-wink.gif" border="0"> <br><br>Since she has a CRMS dx- it's still recommended that these children be followed by a CF center and it sounds like she is. I would make sure all your concerns are aired, that she be getting the supportive tx she needs, and they stipulate to ALL their reasons why her dx is as it is, since it's been found that neither of her mutations are 'functional', etc. Is the only reason she has a CRMS dx the fact that she has a borderline sweat test? That vs. the symptoms she has seems shaky to me to base an entire dx on, but I'm just a parent, not a dr. :-/<br><br>Has she had a NPD test? Am I remembering right that they tried to do one and she did not cooperate for it? I wonder if they would be willing to try again with some mild sedation. That is considered to be as diagnostic as a sweat test score for participation in clinical trials, etc, so may well help matters. <br>
edited since I misunderstood your first post and her specific dx. <img src="i/expressions/face-icon-small-wink.gif" border="0"> <br><br>Since she has a CRMS dx- it's still recommended that these children be followed by a CF center and it sounds like she is. I would make sure all your concerns are aired, that she be getting the supportive tx she needs, and they stipulate to ALL their reasons why her dx is as it is, since it's been found that neither of her mutations are 'functional', etc. Is the only reason she has a CRMS dx the fact that she has a borderline sweat test? That vs. the symptoms she has seems shaky to me to base an entire dx on, but I'm just a parent, not a dr. :-/<br><br>Has she had a NPD test? Am I remembering right that they tried to do one and she did not cooperate for it? I wonder if they would be willing to try again with some mild sedation. That is considered to be as diagnostic as a sweat test score for participation in clinical trials, etc, so may well help matters. <br>
edited since I misunderstood your first post and her specific dx. <img src="i/expressions/face-icon-small-wink.gif" border="0"> <br><br>Since she has a CRMS dx- it's still recommended that these children be followed by a CF center and it sounds like she is. I would make sure all your concerns are aired, that she be getting the supportive tx she needs, and they stipulate to ALL their reasons why her dx is as it is, since it's been found that neither of her mutations are 'functional', etc. Is the only reason she has a CRMS dx the fact that she has a borderline sweat test? That vs. the symptoms she has seems shaky to me to base an entire dx on, but I'm just a parent, not a dr. :-/<br><br>Has she had a NPD test? Am I remembering right that they tried to do one and she did not cooperate for it? I wonder if they would be willing to try again with some mild sedation. That is considered to be as diagnostic as a sweat test score for participation in clinical trials, etc, so may well help matters. <br>
beautifulsoul
Super Moderator
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Mistyjo</b></i>
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt.
We go to Cincinnati Childrens.</end quote></div>
<div><br></div><div>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?</div>
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt.
We go to Cincinnati Childrens.</end quote></div>
<div><br></div><div>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?</div>
beautifulsoul
Super Moderator
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Mistyjo</b></i>
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt.
We go to Cincinnati Childrens.</end quote>
<br>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt.
We go to Cincinnati Childrens.</end quote>
<br>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?
beautifulsoul
Super Moderator
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Mistyjo</b></i>
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.<p>
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt. <p>
We go to Cincinnati Childrens.<p></end quote>
<br>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?
Thanks for the replies. I will look up the journal. Her sweats were 41, 50 and 36. She had bronchitis, sinusitis, rsv, upper resp infections many times the first two yrs and ftt. now it's mainly ftt, constipation.<p>
I don't know what her mutations are but will ask at our next appt. She has been seen every 12 weeks b/c ftt. <p>
We go to Cincinnati Childrens.<p></end quote>
<br>I go there for medical care too! I'm 20. I have been receiving health care from them since I was born. Which department are you seeing there?
Beautifulsoul, We go to Pulmonary dept and see Dr. Clancy on C5. He is new there from Univ. of Alabama and has done a lot of research in CF. Who do you see? Maybe we could meet sometime. I've met up with lots of Moms and children now thru a GI support group on babycenter.
Hariett, She did try the NPD but couldn't finish it. She made it thru the first stage which is the baseline and her baseline was -30 and Dr. said it was enough to warrant furhter testing and that's when they tested her colon tissue from her bowel resection surgery. There is no cftr function in her colon. I'm making a list of questions to ask when we go back next month. I think -30 on baseline can be indicative of cf. If you can think of anything Ishould ask when we go back, please let me know. Thanks for any help!!
Hariett, She did try the NPD but couldn't finish it. She made it thru the first stage which is the baseline and her baseline was -30 and Dr. said it was enough to warrant furhter testing and that's when they tested her colon tissue from her bowel resection surgery. There is no cftr function in her colon. I'm making a list of questions to ask when we go back next month. I think -30 on baseline can be indicative of cf. If you can think of anything Ishould ask when we go back, please let me know. Thanks for any help!!
Beautifulsoul, We go to Pulmonary dept and see Dr. Clancy on C5. He is new there from Univ. of Alabama and has done a lot of research in CF. Who do you see? Maybe we could meet sometime. I've met up with lots of Moms and children now thru a GI support group on babycenter.
Hariett, She did try the NPD but couldn't finish it. She made it thru the first stage which is the baseline and her baseline was -30 and Dr. said it was enough to warrant furhter testing and that's when they tested her colon tissue from her bowel resection surgery. There is no cftr function in her colon. I'm making a list of questions to ask when we go back next month. I think -30 on baseline can be indicative of cf. If you can think of anything Ishould ask when we go back, please let me know. Thanks for any help!!
Hariett, She did try the NPD but couldn't finish it. She made it thru the first stage which is the baseline and her baseline was -30 and Dr. said it was enough to warrant furhter testing and that's when they tested her colon tissue from her bowel resection surgery. There is no cftr function in her colon. I'm making a list of questions to ask when we go back next month. I think -30 on baseline can be indicative of cf. If you can think of anything Ishould ask when we go back, please let me know. Thanks for any help!!