How long did you wait to be seen at CF clinic

J

jonah456

New member
Thank you so much for your reponses! I should clarify that his 'inconclusive' Ambry test just meant that they didn't find a definitive conclusion - i.e. 2 mutations. He has one mutation, hence the further testing.

He does take enzymes, and gained weight immediately. He's never been FTT, but has always eaten an amazing amount of food. Once he started the enzymes, his appetite immediately dropped, too. (Meaning he gained weight while eating about half the amount of food.) He also had issues with fecal incontinence due to all the extra fat in his stools and their texture, and that's been largely corrected. (Sorry to be so graphic!)

He actually doesn't have any other symptoms, so when his doctor brought up CF I was in complete shock. My sister had a very severe case, and I didn't know there were so many variations... We have ruled out pretty much every other cause of PI, so here we are.

In any case, thank you so much for the suggestions. I know all parents with this as a potential diagnosis are freaked out, and since his case would be so mild, I feel bad even complaining or trying to figure out how to move up in the queue. It's just for my peace of mind...

Thanks again.
Lori
 
J

jonah456

New member
Thank you so much for your reponses! I should clarify that his 'inconclusive' Ambry test just meant that they didn't find a definitive conclusion - i.e. 2 mutations. He has one mutation, hence the further testing.

He does take enzymes, and gained weight immediately. He's never been FTT, but has always eaten an amazing amount of food. Once he started the enzymes, his appetite immediately dropped, too. (Meaning he gained weight while eating about half the amount of food.) He also had issues with fecal incontinence due to all the extra fat in his stools and their texture, and that's been largely corrected. (Sorry to be so graphic!)

He actually doesn't have any other symptoms, so when his doctor brought up CF I was in complete shock. My sister had a very severe case, and I didn't know there were so many variations... We have ruled out pretty much every other cause of PI, so here we are.

In any case, thank you so much for the suggestions. I know all parents with this as a potential diagnosis are freaked out, and since his case would be so mild, I feel bad even complaining or trying to figure out how to move up in the queue. It's just for my peace of mind...

Thanks again.
Lori
 
J

jonah456

New member
Thank you so much for your reponses! I should clarify that his 'inconclusive' Ambry test just meant that they didn't find a definitive conclusion - i.e. 2 mutations. He has one mutation, hence the further testing.

He does take enzymes, and gained weight immediately. He's never been FTT, but has always eaten an amazing amount of food. Once he started the enzymes, his appetite immediately dropped, too. (Meaning he gained weight while eating about half the amount of food.) He also had issues with fecal incontinence due to all the extra fat in his stools and their texture, and that's been largely corrected. (Sorry to be so graphic!)

He actually doesn't have any other symptoms, so when his doctor brought up CF I was in complete shock. My sister had a very severe case, and I didn't know there were so many variations... We have ruled out pretty much every other cause of PI, so here we are.

In any case, thank you so much for the suggestions. I know all parents with this as a potential diagnosis are freaked out, and since his case would be so mild, I feel bad even complaining or trying to figure out how to move up in the queue. It's just for my peace of mind...

Thanks again.
Lori
 
J

jonah456

New member
Thank you so much for your reponses! I should clarify that his 'inconclusive' Ambry test just meant that they didn't find a definitive conclusion - i.e. 2 mutations. He has one mutation, hence the further testing.

He does take enzymes, and gained weight immediately. He's never been FTT, but has always eaten an amazing amount of food. Once he started the enzymes, his appetite immediately dropped, too. (Meaning he gained weight while eating about half the amount of food.) He also had issues with fecal incontinence due to all the extra fat in his stools and their texture, and that's been largely corrected. (Sorry to be so graphic!)

He actually doesn't have any other symptoms, so when his doctor brought up CF I was in complete shock. My sister had a very severe case, and I didn't know there were so many variations... We have ruled out pretty much every other cause of PI, so here we are.

In any case, thank you so much for the suggestions. I know all parents with this as a potential diagnosis are freaked out, and since his case would be so mild, I feel bad even complaining or trying to figure out how to move up in the queue. It's just for my peace of mind...

Thanks again.
Lori
 
J

jonah456

New member
Thank you so much for your reponses! I should clarify that his 'inconclusive' Ambry test just meant that they didn't find a definitive conclusion - i.e. 2 mutations. He has one mutation, hence the further testing.
<br />
<br />He does take enzymes, and gained weight immediately. He's never been FTT, but has always eaten an amazing amount of food. Once he started the enzymes, his appetite immediately dropped, too. (Meaning he gained weight while eating about half the amount of food.) He also had issues with fecal incontinence due to all the extra fat in his stools and their texture, and that's been largely corrected. (Sorry to be so graphic!)
<br />
<br />He actually doesn't have any other symptoms, so when his doctor brought up CF I was in complete shock. My sister had a very severe case, and I didn't know there were so many variations... We have ruled out pretty much every other cause of PI, so here we are.
<br />
<br />In any case, thank you so much for the suggestions. I know all parents with this as a potential diagnosis are freaked out, and since his case would be so mild, I feel bad even complaining or trying to figure out how to move up in the queue. It's just for my peace of mind...
<br />
<br />Thanks again.
<br />Lori
 
M

Mommafirst

Guest
I would be pushing to get in faster. When my daughter had her sweat test come back borderline, the pediatrician saw us THAT day and the CF doctor saw us a week later. When the Ambry found 2 mutations, they saw us the next day. They moved everything to fit us in and its the right thing to do to a family faced with this.

Its hard to believe the irony of being adopted to avoid CF, just to have it introduced again in the next generation. I really hope that CF is not your answer, but do know that that just because his only symptoms is PI doesn't mean he wouldn't develop lung issues later on.

Welcome to the board. I hope you get your answers soon.
 
M

Mommafirst

Guest
I would be pushing to get in faster. When my daughter had her sweat test come back borderline, the pediatrician saw us THAT day and the CF doctor saw us a week later. When the Ambry found 2 mutations, they saw us the next day. They moved everything to fit us in and its the right thing to do to a family faced with this.

Its hard to believe the irony of being adopted to avoid CF, just to have it introduced again in the next generation. I really hope that CF is not your answer, but do know that that just because his only symptoms is PI doesn't mean he wouldn't develop lung issues later on.

Welcome to the board. I hope you get your answers soon.
 
M

Mommafirst

Guest
I would be pushing to get in faster. When my daughter had her sweat test come back borderline, the pediatrician saw us THAT day and the CF doctor saw us a week later. When the Ambry found 2 mutations, they saw us the next day. They moved everything to fit us in and its the right thing to do to a family faced with this.

Its hard to believe the irony of being adopted to avoid CF, just to have it introduced again in the next generation. I really hope that CF is not your answer, but do know that that just because his only symptoms is PI doesn't mean he wouldn't develop lung issues later on.

Welcome to the board. I hope you get your answers soon.
 
M

Mommafirst

Guest
I would be pushing to get in faster. When my daughter had her sweat test come back borderline, the pediatrician saw us THAT day and the CF doctor saw us a week later. When the Ambry found 2 mutations, they saw us the next day. They moved everything to fit us in and its the right thing to do to a family faced with this.

Its hard to believe the irony of being adopted to avoid CF, just to have it introduced again in the next generation. I really hope that CF is not your answer, but do know that that just because his only symptoms is PI doesn't mean he wouldn't develop lung issues later on.

Welcome to the board. I hope you get your answers soon.
 
M

Mommafirst

Guest
I would be pushing to get in faster. When my daughter had her sweat test come back borderline, the pediatrician saw us THAT day and the CF doctor saw us a week later. When the Ambry found 2 mutations, they saw us the next day. They moved everything to fit us in and its the right thing to do to a family faced with this.
<br />
<br />Its hard to believe the irony of being adopted to avoid CF, just to have it introduced again in the next generation. I really hope that CF is not your answer, but do know that that just because his only symptoms is PI doesn't mean he wouldn't develop lung issues later on.
<br />
<br />Welcome to the board. I hope you get your answers soon.
 
H

hmw

New member
I am very glad that he has responded so well to the enzymes. That is so good! However, a positive dx of pancreatic insufficiency with other causes ruled out and one mutation found on genetic testing does indicate he really needs that sweat test done. I hope he does not have cf, but the cause for the pi does need to be figured out.

As Heather posted above, we also got in VERY quickly with the cf team when Emily had her positive sweat test and she hadn't yet even had any genetic testing done! The test had been ordered through a diff dr (endocrinologist) but she contacted the cf dr immediately, who called to talk to me that day after the endo gave us the dx. They had dh and I in 2 days later- to meet with the entire team (without Emily- so we could get to know everyone, to learn how things would work at the clinic, start learning about cf, for them to ask a billion questions about Emily's hx, etc), and then the very next week for Emily to have her first clinic visit. It would have been torture for me to wait months to get in, faced with a dx like that.

I wish the best in finding a way to get in sooner.
 
H

hmw

New member
I am very glad that he has responded so well to the enzymes. That is so good! However, a positive dx of pancreatic insufficiency with other causes ruled out and one mutation found on genetic testing does indicate he really needs that sweat test done. I hope he does not have cf, but the cause for the pi does need to be figured out.

As Heather posted above, we also got in VERY quickly with the cf team when Emily had her positive sweat test and she hadn't yet even had any genetic testing done! The test had been ordered through a diff dr (endocrinologist) but she contacted the cf dr immediately, who called to talk to me that day after the endo gave us the dx. They had dh and I in 2 days later- to meet with the entire team (without Emily- so we could get to know everyone, to learn how things would work at the clinic, start learning about cf, for them to ask a billion questions about Emily's hx, etc), and then the very next week for Emily to have her first clinic visit. It would have been torture for me to wait months to get in, faced with a dx like that.

I wish the best in finding a way to get in sooner.
 
H

hmw

New member
I am very glad that he has responded so well to the enzymes. That is so good! However, a positive dx of pancreatic insufficiency with other causes ruled out and one mutation found on genetic testing does indicate he really needs that sweat test done. I hope he does not have cf, but the cause for the pi does need to be figured out.

As Heather posted above, we also got in VERY quickly with the cf team when Emily had her positive sweat test and she hadn't yet even had any genetic testing done! The test had been ordered through a diff dr (endocrinologist) but she contacted the cf dr immediately, who called to talk to me that day after the endo gave us the dx. They had dh and I in 2 days later- to meet with the entire team (without Emily- so we could get to know everyone, to learn how things would work at the clinic, start learning about cf, for them to ask a billion questions about Emily's hx, etc), and then the very next week for Emily to have her first clinic visit. It would have been torture for me to wait months to get in, faced with a dx like that.

I wish the best in finding a way to get in sooner.
 
H

hmw

New member
I am very glad that he has responded so well to the enzymes. That is so good! However, a positive dx of pancreatic insufficiency with other causes ruled out and one mutation found on genetic testing does indicate he really needs that sweat test done. I hope he does not have cf, but the cause for the pi does need to be figured out.

As Heather posted above, we also got in VERY quickly with the cf team when Emily had her positive sweat test and she hadn't yet even had any genetic testing done! The test had been ordered through a diff dr (endocrinologist) but she contacted the cf dr immediately, who called to talk to me that day after the endo gave us the dx. They had dh and I in 2 days later- to meet with the entire team (without Emily- so we could get to know everyone, to learn how things would work at the clinic, start learning about cf, for them to ask a billion questions about Emily's hx, etc), and then the very next week for Emily to have her first clinic visit. It would have been torture for me to wait months to get in, faced with a dx like that.

I wish the best in finding a way to get in sooner.
 
H

hmw

New member
I am very glad that he has responded so well to the enzymes. That is so good! However, a positive dx of pancreatic insufficiency with other causes ruled out and one mutation found on genetic testing does indicate he really needs that sweat test done. I hope he does not have cf, but the cause for the pi does need to be figured out.
<br />
<br />As Heather posted above, we also got in VERY quickly with the cf team when Emily had her positive sweat test and she hadn't yet even had any genetic testing done! The test had been ordered through a diff dr (endocrinologist) but she contacted the cf dr immediately, who called to talk to me that day after the endo gave us the dx. They had dh and I in 2 days later- to meet with the entire team (without Emily- so we could get to know everyone, to learn how things would work at the clinic, start learning about cf, for them to ask a billion questions about Emily's hx, etc), and then the very next week for Emily to have her first clinic visit. It would have been torture for me to wait months to get in, faced with a dx like that.
<br />
<br />I wish the best in finding a way to get in sooner.
 
J

jonah456

New member
Just call me Ms. Sticky Wheel...

Thanks to all of propping me up with the knowledge that waiting two months to get a sweat test is NOT standard, I made some calls today and got my son's sweat test scheduled for Thursday. Yay! Sounds like his GI doc just hadn't faxed over the results of the Ambry test, so the clinic thought we were starting from scratch.

I'm sure you all understand the complex emotions that we're going through. Thanks again for your advice, information and support.

Lori
 
J

jonah456

New member
Just call me Ms. Sticky Wheel...

Thanks to all of propping me up with the knowledge that waiting two months to get a sweat test is NOT standard, I made some calls today and got my son's sweat test scheduled for Thursday. Yay! Sounds like his GI doc just hadn't faxed over the results of the Ambry test, so the clinic thought we were starting from scratch.

I'm sure you all understand the complex emotions that we're going through. Thanks again for your advice, information and support.

Lori
 
J

jonah456

New member
Just call me Ms. Sticky Wheel...

Thanks to all of propping me up with the knowledge that waiting two months to get a sweat test is NOT standard, I made some calls today and got my son's sweat test scheduled for Thursday. Yay! Sounds like his GI doc just hadn't faxed over the results of the Ambry test, so the clinic thought we were starting from scratch.

I'm sure you all understand the complex emotions that we're going through. Thanks again for your advice, information and support.

Lori
 
J

jonah456

New member
Just call me Ms. Sticky Wheel...

Thanks to all of propping me up with the knowledge that waiting two months to get a sweat test is NOT standard, I made some calls today and got my son's sweat test scheduled for Thursday. Yay! Sounds like his GI doc just hadn't faxed over the results of the Ambry test, so the clinic thought we were starting from scratch.

I'm sure you all understand the complex emotions that we're going through. Thanks again for your advice, information and support.

Lori
 
J

jonah456

New member
Just call me Ms. Sticky Wheel...
<br />
<br />Thanks to all of propping me up with the knowledge that waiting two months to get a sweat test is NOT standard, I made some calls today and got my son's sweat test scheduled for Thursday. Yay! Sounds like his GI doc just hadn't faxed over the results of the Ambry test, so the clinic thought we were starting from scratch.
<br />
<br />I'm sure you all understand the complex emotions that we're going through. Thanks again for your advice, information and support.
<br />
<br />Lori
 
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