New and need info-

D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
D

domsmom

Guest
Hi I've been lurking here for some time while we have been waiting for my son's results. He was tested at Baystate Medical Center in Springfield, MA, which is an accreditted CF center. He is 4 yrs old. We have no history of CF on either side of our families. I was screened during pregnancy and it came back negagtive so I never even considered it a possiblity. He was dx with asthma last year, and has chronic sinusitis. These are his only issues. He has always been in the 100th percentile for height and weight. This past June at his 4yr physical his ped made a comment that he was actually 2lbs overweight for his height. The pulm. that he has now is his 2nd one as his first one really wasn't listening to me and just seemed to be fishing and was overmedicating him. When we 1st saw our current pulm. he metioned a sweat test and I kinda brushed it off. When DS's sinus infection and cough didn't seem to clear after 5mths he insited on it. So here we are waitin he has had 2 postive sweat tests and we are now awaiting genetic test results.
I was very upset to learn that although the lab order stated Ambry Amplified, the testing was not sent to them but to Genzyme Labs. I was told only some results are in and the rest will possibly take several more weeks. Has anyone had expierence with this center and does this test greatly differ from the Ambry? And if he doesn'y have any mutations but has + sweat tests does he have CF? The CF director says she doesn't want to overload me with info just yet. I may just have on rose colored glasses, but I don't know if I truly believe this is waht he has. If it is we will do what we have to I am just not convinced.

Jenn
mom to Dominic 4- possible CF
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
M

Mommafirst

Guest
From my understanding, two positive sweats mean a diagnosis. I'd think that in this case the Genzyme test will probably show two mutations and if it doesn't, the center will probably seek larger testing.

I'm sorry to hear you are going through a diagnosis. I know its hard to imagine that this is really happening. Just take comfort in how well Dominic has done so far, and how much better he will do with the addition of other types of CF preventative care.

As for his weight, while most CF kids have pancreatic problems, need enzymes, and have trouble gaining weight, not all do. My daughter does take enzymes because of her difficulty gaining weight, but is pancreatic sufficient.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
A

Alyssa

New member
If you have two positive sweat test results, from an accredited facility + some CF symptoms, I would think it prudent of your doctor to tell you something along the lines of "Yes, it is most likely CF. We will try to confirm the genetic information, but based on the sweat tests and symptoms it is very likely he has CF"

It can be overwhelming but there is no point in holding off telling you the facts right now.

The good news is, you can start getting the correct care & treatments for you son. Knowing what you are dealing with (rather than guessing on how best to treat his problems) will increase his chances or remaining healthy longer.

Best wishes, and please keep us updated on what happens.
 
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