Catie does not have CF, but maybe Hirschsprungs?

[Catiesmom]

Hi all~
A genetic test and sweat test both proved Catie, our 4 month old, does not have CF. We are relieved, but at the same time, we're worried b/c we still don't know what is wrong with her.

Her pulmonologist seems to think Hirschsprung's disease is a good possibility. To me, it doesn't sound at all like her. She's going to have a barium enema on Wednesday to see if she does have it.

He also told me she looks a bit "syndromey" and should see a geneticist. He says her nose is a bit flat and her eyes kind of wide set and those are sometimes indicative of syndromes. She looks just like our older daughter and she acts perfectly fine and meets all her developmental milestones so far, so I don't really think she has any syndromes, but just the fact that he says that is scary.

 

[Catiesmom]

Hi all~
A genetic test and sweat test both proved Catie, our 4 month old, does not have CF. We are relieved, but at the same time, we're worried b/c we still don't know what is wrong with her.

Her pulmonologist seems to think Hirschsprung's disease is a good possibility. To me, it doesn't sound at all like her. She's going to have a barium enema on Wednesday to see if she does have it.

He also told me she looks a bit "syndromey" and should see a geneticist. He says her nose is a bit flat and her eyes kind of wide set and those are sometimes indicative of syndromes. She looks just like our older daughter and she acts perfectly fine and meets all her developmental milestones so far, so I don't really think she has any syndromes, but just the fact that he says that is scary.

 

[Catiesmom]

Hi all~
A genetic test and sweat test both proved Catie, our 4 month old, does not have CF. We are relieved, but at the same time, we're worried b/c we still don't know what is wrong with her.

Her pulmonologist seems to think Hirschsprung's disease is a good possibility. To me, it doesn't sound at all like her. She's going to have a barium enema on Wednesday to see if she does have it.

He also told me she looks a bit "syndromey" and should see a geneticist. He says her nose is a bit flat and her eyes kind of wide set and those are sometimes indicative of syndromes. She looks just like our older daughter and she acts perfectly fine and meets all her developmental milestones so far, so I don't really think she has any syndromes, but just the fact that he says that is scary.

 

[JazzysMom]

I hate to throw a monkey wrench into things, but I want to be sure. The sweat test isnt always reliable especially on babies that young. As far as the gentic.....how large of a panel did they test? Even with the full panel there is always the possibility that it can be CF, but she would have undetected/known mutations yet. I dont recall her symptoms etc that lead to her being tested, but there are a few people that are treated as if they have CF due to their symptoms even they the testing hasnt given a definitive CF dx. Just thought I would throw these thoughts in there especially since you are still seaking answers. Good Luck!


EDITED TO ADD:

I just read your original post and was proud to hear the doctors wanted to test her. You never know for sure so I still stand by the fact that sweat tests are not as reliable as once thought especially on young infants and that genetic testing could be missing an unknown mutation. I hope you find answers no way or the other and thanks for the update!

 

[JazzysMom]

I hate to throw a monkey wrench into things, but I want to be sure. The sweat test isnt always reliable especially on babies that young. As far as the gentic.....how large of a panel did they test? Even with the full panel there is always the possibility that it can be CF, but she would have undetected/known mutations yet. I dont recall her symptoms etc that lead to her being tested, but there are a few people that are treated as if they have CF due to their symptoms even they the testing hasnt given a definitive CF dx. Just thought I would throw these thoughts in there especially since you are still seaking answers. Good Luck!


EDITED TO ADD:

I just read your original post and was proud to hear the doctors wanted to test her. You never know for sure so I still stand by the fact that sweat tests are not as reliable as once thought especially on young infants and that genetic testing could be missing an unknown mutation. I hope you find answers no way or the other and thanks for the update!

 

[JazzysMom]

I hate to throw a monkey wrench into things, but I want to be sure. The sweat test isnt always reliable especially on babies that young. As far as the gentic.....how large of a panel did they test? Even with the full panel there is always the possibility that it can be CF, but she would have undetected/known mutations yet. I dont recall her symptoms etc that lead to her being tested, but there are a few people that are treated as if they have CF due to their symptoms even they the testing hasnt given a definitive CF dx. Just thought I would throw these thoughts in there especially since you are still seaking answers. Good Luck!


EDITED TO ADD:

I just read your original post and was proud to hear the doctors wanted to test her. You never know for sure so I still stand by the fact that sweat tests are not as reliable as once thought especially on young infants and that genetic testing could be missing an unknown mutation. I hope you find answers no way or the other and thanks for the update!

 

[NoExcuses]

Perhaps they have a Hirschsprung's disease board with people you could talk to?

 

[NoExcuses]

Perhaps they have a Hirschsprung's disease board with people you could talk to?

 

[NoExcuses]

Perhaps they have a Hirschsprung's disease board with people you could talk to?

 

[okok]

Hi

I am so sorry things are still so uncertain for you!! I certainly hope your doctor was wrong about your child looking "syndromy." It seems like sort of an insensitive thing to say but it sounds like he is really trying to help your daughter so I forgive him. I hope that they can figure out what is going on with your daughter soon.

Best wishes!

 

[okok]

Hi

I am so sorry things are still so uncertain for you!! I certainly hope your doctor was wrong about your child looking "syndromy." It seems like sort of an insensitive thing to say but it sounds like he is really trying to help your daughter so I forgive him. I hope that they can figure out what is going on with your daughter soon.

Best wishes!

 

[okok]

Hi

I am so sorry things are still so uncertain for you!! I certainly hope your doctor was wrong about your child looking "syndromy." It seems like sort of an insensitive thing to say but it sounds like he is really trying to help your daughter so I forgive him. I hope that they can figure out what is going on with your daughter soon.

Best wishes!