Could it be something other than CF?

Catiesmom

New member
Hi there~
I'm April, and I'm writing in regards to my daughter Catie, who is 4 months
old. Catie was born at 37 weeks and was 8 lbs 8 ounces. From the start she had some breathing difficulties... her heart rate would drop with every contraction and she didn't "pink up" quite fast enough when she came out.

Soon after birth, she was diagnosed with reflux and put on zantac. She was
always very, very gassy. She would gag and choke a lot during feedings. She
also would have milk come out of her nose.

At about 7 weeks, she began to develop an enormous ammount of mucous in her
nose. This kid is a snot machine. It's 24/7 and never goes away. It's so bad
that she has to take breaths while nursing. She's had a few spells of
bronchiolitis since then. She's had steroid shots, antibiotics, breathing
treatments, we've seen a chiropractor, etc. She is in the 5th percentile for
weight gain, weighing just 11 pounds, 2 ounces. She's in the 10th percentile
for height. We've been in and out of the ped's office almost weekly, b/c I
refused to let them keep blowing me off and telling me that it's normal for
a baby to be "stuffy" and that she might just be "petite" (in regards to the
weight gain.)

Her stomach was always puffy and oddly shaped. People would always comment
and ask me if she was OK. The old ped said she was fine. But, when she was
recently hospitalized, nurses called it "distended."

She also has some pooping issues. She was pooping regularly in the early
weeks, and then went to about every 4 to 5 days and then to once every 7
days. At one point, she had gone 13 days. It was so weird, b/c I could
literally SMELL the poop in her. It was like it was just sitting there and
would not come out. She smelled for DAYS. When she would poop, it was not
firm or constipated. It was pretty wet and somewhat mucousy. Her ped said
she had a "narrow anus," and that was the problem.

I finally fired the old ped and recruited a new one. He immediately told me
to eliminate dairy from my diet and it helped some. I then began pursuing
allergy treatment and testing for her, convinced her problem was
allergy-related.

She was hospitalized for 4 days last week for RSV. The new ped called in a
pulmonologist to consult with him. He ordered chest X-rays and found a small
mucous plug in one of her lungs. I was told that could be from a bad RSV
infection or from CF. He also said her tummy was like a "balloon about to
pop" b/c it was so full of gas. He said that could be a CF enzyme problem or
could be from something as simple as lactose intolerance. He also ordered a
scan of her tummy and could see that she was about to poop. But it never
came. They had to give her an enema, and once again it was a firm or
constipated poop. It just wouldn't come out.

There is a history of CF in my family, though it is fairly far removed (3rd
& 4th cousins). My husband is not aware of a history in his family, though
we're told that means nothing.

After speaking with me and examining Catie and looking over her chest x-ray
and stomach scan and looking at her poop, the pulmonologist has given us
what he calls a "presumptive diagnosis of cystic fibrosis." He tells me he's
"pretty sure" that's what she has.

He's started treating her as though she has it. She now gets enzymes before
each meal, takes a breathing treatment of pulmozyme in the morning, another
treatment of albuterol and a hyperponic saline solution in the morning and
at night. She also is on mirelax to help her have a BM, and takes the
vitamins as well, and is also on a larger dose of zantac.

We are awaiting the results of a gene study to see if she is positive for
CF.It was sent out last Thursday and could take 1 to 2 weeks to get it back.
I'm just wondering about this "presumptive diagnosis" and how worried I
should be? I'm a little suspicious of anything "presumptive". The
pulmonologist tells me all of her symptoms could be the result of things
totally unrelated to CF. She's not salty tasting, either. Also, he did some
testing on her liver function and it was excellent. He also says her vitamin
levels were great.

We went back to the doc this morning and she weighed 10.12 and is almost 5 months, so she still is not gaining. Her lungs looked good, but she was still gassy so he upped her enzymes.

The results of a stool study were not consistent with CF, but the doctor told me that they're often inaccurate here, b/c they don't do them often enough here to truly know what they're looking for. I also asked about doing a swet test here and he says the same thing--they don't do them enough so they're not accurate here. He wants to send us to a CF clinic in Ft. Worth.

I'm just wondering if she doesn't have CF, and I really feel she does not, the WHAT does she have? Why is she not gaining weight?

I would appreciate ANY insight!
 

Catiesmom

New member
Hi there~
I'm April, and I'm writing in regards to my daughter Catie, who is 4 months
old. Catie was born at 37 weeks and was 8 lbs 8 ounces. From the start she had some breathing difficulties... her heart rate would drop with every contraction and she didn't "pink up" quite fast enough when she came out.

Soon after birth, she was diagnosed with reflux and put on zantac. She was
always very, very gassy. She would gag and choke a lot during feedings. She
also would have milk come out of her nose.

At about 7 weeks, she began to develop an enormous ammount of mucous in her
nose. This kid is a snot machine. It's 24/7 and never goes away. It's so bad
that she has to take breaths while nursing. She's had a few spells of
bronchiolitis since then. She's had steroid shots, antibiotics, breathing
treatments, we've seen a chiropractor, etc. She is in the 5th percentile for
weight gain, weighing just 11 pounds, 2 ounces. She's in the 10th percentile
for height. We've been in and out of the ped's office almost weekly, b/c I
refused to let them keep blowing me off and telling me that it's normal for
a baby to be "stuffy" and that she might just be "petite" (in regards to the
weight gain.)

Her stomach was always puffy and oddly shaped. People would always comment
and ask me if she was OK. The old ped said she was fine. But, when she was
recently hospitalized, nurses called it "distended."

She also has some pooping issues. She was pooping regularly in the early
weeks, and then went to about every 4 to 5 days and then to once every 7
days. At one point, she had gone 13 days. It was so weird, b/c I could
literally SMELL the poop in her. It was like it was just sitting there and
would not come out. She smelled for DAYS. When she would poop, it was not
firm or constipated. It was pretty wet and somewhat mucousy. Her ped said
she had a "narrow anus," and that was the problem.

I finally fired the old ped and recruited a new one. He immediately told me
to eliminate dairy from my diet and it helped some. I then began pursuing
allergy treatment and testing for her, convinced her problem was
allergy-related.

She was hospitalized for 4 days last week for RSV. The new ped called in a
pulmonologist to consult with him. He ordered chest X-rays and found a small
mucous plug in one of her lungs. I was told that could be from a bad RSV
infection or from CF. He also said her tummy was like a "balloon about to
pop" b/c it was so full of gas. He said that could be a CF enzyme problem or
could be from something as simple as lactose intolerance. He also ordered a
scan of her tummy and could see that she was about to poop. But it never
came. They had to give her an enema, and once again it was a firm or
constipated poop. It just wouldn't come out.

There is a history of CF in my family, though it is fairly far removed (3rd
& 4th cousins). My husband is not aware of a history in his family, though
we're told that means nothing.

After speaking with me and examining Catie and looking over her chest x-ray
and stomach scan and looking at her poop, the pulmonologist has given us
what he calls a "presumptive diagnosis of cystic fibrosis." He tells me he's
"pretty sure" that's what she has.

He's started treating her as though she has it. She now gets enzymes before
each meal, takes a breathing treatment of pulmozyme in the morning, another
treatment of albuterol and a hyperponic saline solution in the morning and
at night. She also is on mirelax to help her have a BM, and takes the
vitamins as well, and is also on a larger dose of zantac.

We are awaiting the results of a gene study to see if she is positive for
CF.It was sent out last Thursday and could take 1 to 2 weeks to get it back.
I'm just wondering about this "presumptive diagnosis" and how worried I
should be? I'm a little suspicious of anything "presumptive". The
pulmonologist tells me all of her symptoms could be the result of things
totally unrelated to CF. She's not salty tasting, either. Also, he did some
testing on her liver function and it was excellent. He also says her vitamin
levels were great.

We went back to the doc this morning and she weighed 10.12 and is almost 5 months, so she still is not gaining. Her lungs looked good, but she was still gassy so he upped her enzymes.

The results of a stool study were not consistent with CF, but the doctor told me that they're often inaccurate here, b/c they don't do them often enough here to truly know what they're looking for. I also asked about doing a swet test here and he says the same thing--they don't do them enough so they're not accurate here. He wants to send us to a CF clinic in Ft. Worth.

I'm just wondering if she doesn't have CF, and I really feel she does not, the WHAT does she have? Why is she not gaining weight?

I would appreciate ANY insight!
 

Catiesmom

New member
Hi there~
I'm April, and I'm writing in regards to my daughter Catie, who is 4 months
old. Catie was born at 37 weeks and was 8 lbs 8 ounces. From the start she had some breathing difficulties... her heart rate would drop with every contraction and she didn't "pink up" quite fast enough when she came out.

Soon after birth, she was diagnosed with reflux and put on zantac. She was
always very, very gassy. She would gag and choke a lot during feedings. She
also would have milk come out of her nose.

At about 7 weeks, she began to develop an enormous ammount of mucous in her
nose. This kid is a snot machine. It's 24/7 and never goes away. It's so bad
that she has to take breaths while nursing. She's had a few spells of
bronchiolitis since then. She's had steroid shots, antibiotics, breathing
treatments, we've seen a chiropractor, etc. She is in the 5th percentile for
weight gain, weighing just 11 pounds, 2 ounces. She's in the 10th percentile
for height. We've been in and out of the ped's office almost weekly, b/c I
refused to let them keep blowing me off and telling me that it's normal for
a baby to be "stuffy" and that she might just be "petite" (in regards to the
weight gain.)

Her stomach was always puffy and oddly shaped. People would always comment
and ask me if she was OK. The old ped said she was fine. But, when she was
recently hospitalized, nurses called it "distended."

She also has some pooping issues. She was pooping regularly in the early
weeks, and then went to about every 4 to 5 days and then to once every 7
days. At one point, she had gone 13 days. It was so weird, b/c I could
literally SMELL the poop in her. It was like it was just sitting there and
would not come out. She smelled for DAYS. When she would poop, it was not
firm or constipated. It was pretty wet and somewhat mucousy. Her ped said
she had a "narrow anus," and that was the problem.

I finally fired the old ped and recruited a new one. He immediately told me
to eliminate dairy from my diet and it helped some. I then began pursuing
allergy treatment and testing for her, convinced her problem was
allergy-related.

She was hospitalized for 4 days last week for RSV. The new ped called in a
pulmonologist to consult with him. He ordered chest X-rays and found a small
mucous plug in one of her lungs. I was told that could be from a bad RSV
infection or from CF. He also said her tummy was like a "balloon about to
pop" b/c it was so full of gas. He said that could be a CF enzyme problem or
could be from something as simple as lactose intolerance. He also ordered a
scan of her tummy and could see that she was about to poop. But it never
came. They had to give her an enema, and once again it was a firm or
constipated poop. It just wouldn't come out.

There is a history of CF in my family, though it is fairly far removed (3rd
& 4th cousins). My husband is not aware of a history in his family, though
we're told that means nothing.

After speaking with me and examining Catie and looking over her chest x-ray
and stomach scan and looking at her poop, the pulmonologist has given us
what he calls a "presumptive diagnosis of cystic fibrosis." He tells me he's
"pretty sure" that's what she has.

He's started treating her as though she has it. She now gets enzymes before
each meal, takes a breathing treatment of pulmozyme in the morning, another
treatment of albuterol and a hyperponic saline solution in the morning and
at night. She also is on mirelax to help her have a BM, and takes the
vitamins as well, and is also on a larger dose of zantac.

We are awaiting the results of a gene study to see if she is positive for
CF.It was sent out last Thursday and could take 1 to 2 weeks to get it back.
I'm just wondering about this "presumptive diagnosis" and how worried I
should be? I'm a little suspicious of anything "presumptive". The
pulmonologist tells me all of her symptoms could be the result of things
totally unrelated to CF. She's not salty tasting, either. Also, he did some
testing on her liver function and it was excellent. He also says her vitamin
levels were great.

We went back to the doc this morning and she weighed 10.12 and is almost 5 months, so she still is not gaining. Her lungs looked good, but she was still gassy so he upped her enzymes.

The results of a stool study were not consistent with CF, but the doctor told me that they're often inaccurate here, b/c they don't do them often enough here to truly know what they're looking for. I also asked about doing a swet test here and he says the same thing--they don't do them enough so they're not accurate here. He wants to send us to a CF clinic in Ft. Worth.

I'm just wondering if she doesn't have CF, and I really feel she does not, the WHAT does she have? Why is she not gaining weight?

I would appreciate ANY insight!
 

ktsmom

New member
Some of her symptoms could be CF - you've clearly done some research so you know this.

I suspect the "presumptive" word was so that treatments could begin, as you described. I'm personally NOT skeptical of it, but I'm "not the momma" of your Catie.

The genetics should tell the tale, hopefully, and I'm glad they cut to the chase and got that going. I would caution you about the CF history in your family being "far removed". This means nothing - if you are related to those people by blood you could still be a carrier.

Are her tummy/stool symptoms better with all of the treatments? We saw results almost immediately, although we weren't having constipation problems but more frequent, runny, greasy stools. There are lots of other moms on here where constipation was/is an issue so perhaps they'll jump in here with their input. We are on Prevacid and it has help tremendously - in fact, the enzymes really don't work as well without it. There are other brands of enzymes, too, so perhaps those need to be adjusted or changed if her symptoms aren't improving.

I really hope you get some answers soon.
 

ktsmom

New member
Some of her symptoms could be CF - you've clearly done some research so you know this.

I suspect the "presumptive" word was so that treatments could begin, as you described. I'm personally NOT skeptical of it, but I'm "not the momma" of your Catie.

The genetics should tell the tale, hopefully, and I'm glad they cut to the chase and got that going. I would caution you about the CF history in your family being "far removed". This means nothing - if you are related to those people by blood you could still be a carrier.

Are her tummy/stool symptoms better with all of the treatments? We saw results almost immediately, although we weren't having constipation problems but more frequent, runny, greasy stools. There are lots of other moms on here where constipation was/is an issue so perhaps they'll jump in here with their input. We are on Prevacid and it has help tremendously - in fact, the enzymes really don't work as well without it. There are other brands of enzymes, too, so perhaps those need to be adjusted or changed if her symptoms aren't improving.

I really hope you get some answers soon.
 

ktsmom

New member
Some of her symptoms could be CF - you've clearly done some research so you know this.

I suspect the "presumptive" word was so that treatments could begin, as you described. I'm personally NOT skeptical of it, but I'm "not the momma" of your Catie.

The genetics should tell the tale, hopefully, and I'm glad they cut to the chase and got that going. I would caution you about the CF history in your family being "far removed". This means nothing - if you are related to those people by blood you could still be a carrier.

Are her tummy/stool symptoms better with all of the treatments? We saw results almost immediately, although we weren't having constipation problems but more frequent, runny, greasy stools. There are lots of other moms on here where constipation was/is an issue so perhaps they'll jump in here with their input. We are on Prevacid and it has help tremendously - in fact, the enzymes really don't work as well without it. There are other brands of enzymes, too, so perhaps those need to be adjusted or changed if her symptoms aren't improving.

I really hope you get some answers soon.
 

Foody

New member
I think treating for CF is very wise based on what you are discribing. Until the genetic tests come back it is important to give enzymes and vitamins to prevent serious malabsorption issues such as vitamin deficiencies due to fat and protein loss in stools.

After being undiagnosed, the body can be in quite a state of imbalance until food is being absorbed, the digestive system heals, and other systems heal. Our son was not diagnosed until 4 months old and was off the charts. He had horrible green frothy stools, reflux, vitamin K deficiency, gass, frequent stools, later protein and zinc deficiency, and wasn't gaining weight. We were seen by our CF clinic here (finally after too many things going wrong with no answers from sweat tests and regular GI/peds). We were treated presumptively (thankfully) at the hospital with enzymes, vitamins, somethign for reflux, a liver med to calm his liver. We breastfed and simply supplemented some predigested formula via NG tube feeds until he caught up. THis all took time and was not an overnight thing. I would say it took at least 8 weeks to really see consistent improvement. His gut had to heal and build up the flora (probiotic helped tremendously). His puffy belly went away as his nutrition status improved as well.

The good news is, we did get a positive DNA result to verify. A sweat test eventually did work once his nutrition status was corrected to confirm the diagnosis. The best news is after he was on track, he continued to breast feed until he was 20 months old only requiring a little formula one other time when he was ill with RSV. So you can preserve the breastfeeding relationship and I have collected resources for doing so on my site below.

He is now off the reflux and liver meds and only takes supplements, probiotics, enzymes and lots of great healthy foods. He is in the 70% now and very healthy.

I don't know what else it could be but continued GI evaluation should be considered. Other bowel issues could be part of the problem. Definately get to the cerfified CF clinic as fast as you can for confirmation and further evaluation.

Best wishes,
 

Foody

New member
I think treating for CF is very wise based on what you are discribing. Until the genetic tests come back it is important to give enzymes and vitamins to prevent serious malabsorption issues such as vitamin deficiencies due to fat and protein loss in stools.

After being undiagnosed, the body can be in quite a state of imbalance until food is being absorbed, the digestive system heals, and other systems heal. Our son was not diagnosed until 4 months old and was off the charts. He had horrible green frothy stools, reflux, vitamin K deficiency, gass, frequent stools, later protein and zinc deficiency, and wasn't gaining weight. We were seen by our CF clinic here (finally after too many things going wrong with no answers from sweat tests and regular GI/peds). We were treated presumptively (thankfully) at the hospital with enzymes, vitamins, somethign for reflux, a liver med to calm his liver. We breastfed and simply supplemented some predigested formula via NG tube feeds until he caught up. THis all took time and was not an overnight thing. I would say it took at least 8 weeks to really see consistent improvement. His gut had to heal and build up the flora (probiotic helped tremendously). His puffy belly went away as his nutrition status improved as well.

The good news is, we did get a positive DNA result to verify. A sweat test eventually did work once his nutrition status was corrected to confirm the diagnosis. The best news is after he was on track, he continued to breast feed until he was 20 months old only requiring a little formula one other time when he was ill with RSV. So you can preserve the breastfeeding relationship and I have collected resources for doing so on my site below.

He is now off the reflux and liver meds and only takes supplements, probiotics, enzymes and lots of great healthy foods. He is in the 70% now and very healthy.

I don't know what else it could be but continued GI evaluation should be considered. Other bowel issues could be part of the problem. Definately get to the cerfified CF clinic as fast as you can for confirmation and further evaluation.

Best wishes,
 

Foody

New member
I think treating for CF is very wise based on what you are discribing. Until the genetic tests come back it is important to give enzymes and vitamins to prevent serious malabsorption issues such as vitamin deficiencies due to fat and protein loss in stools.

After being undiagnosed, the body can be in quite a state of imbalance until food is being absorbed, the digestive system heals, and other systems heal. Our son was not diagnosed until 4 months old and was off the charts. He had horrible green frothy stools, reflux, vitamin K deficiency, gass, frequent stools, later protein and zinc deficiency, and wasn't gaining weight. We were seen by our CF clinic here (finally after too many things going wrong with no answers from sweat tests and regular GI/peds). We were treated presumptively (thankfully) at the hospital with enzymes, vitamins, somethign for reflux, a liver med to calm his liver. We breastfed and simply supplemented some predigested formula via NG tube feeds until he caught up. THis all took time and was not an overnight thing. I would say it took at least 8 weeks to really see consistent improvement. His gut had to heal and build up the flora (probiotic helped tremendously). His puffy belly went away as his nutrition status improved as well.

The good news is, we did get a positive DNA result to verify. A sweat test eventually did work once his nutrition status was corrected to confirm the diagnosis. The best news is after he was on track, he continued to breast feed until he was 20 months old only requiring a little formula one other time when he was ill with RSV. So you can preserve the breastfeeding relationship and I have collected resources for doing so on my site below.

He is now off the reflux and liver meds and only takes supplements, probiotics, enzymes and lots of great healthy foods. He is in the 70% now and very healthy.

I don't know what else it could be but continued GI evaluation should be considered. Other bowel issues could be part of the problem. Definately get to the cerfified CF clinic as fast as you can for confirmation and further evaluation.

Best wishes,
 
M

Mommafirst

Guest
I have two things to say and I hope they dont' sound contradictory. The first is that I think its great that your doctor is doing the gene test and in the meantime treating her as if she has CF -- why should she wait weeks and weeks for relief while the genes are being tested? I do hope they did a full ambry amplified and not a basic panel (1500+ mutations vs. just 30), but if they didn't they can always do the more extended on if none or just one is found.<br>
<br>
The second thing I want to say is that since your dr implied that they don't do the stool testing very often -- you need to get a specialist in CF. From what I've seen at our CF center, they do lots and lots of stool testing. My daughter is pancreatic sufficient (for now, they tell me anyway), so she has been tested already several times to keep an eye on whether its changing.<br>
<br>
I soooo understand how difficult this time of ambiguity and diagnosis is. I applaud you for working so hard and so quickly in her life to get some answers. Certainly the things you say seem quite CF consistent -- especially when combined together like they are. I do know though, that Celiac's Disease often mirror's symptoms of CF -- and would be a logical option for you to consider persuing as well while they are figuring things out. The treatments for Cf will not help one with Celiac's. Instead their diet would need to remove all gluten's and wheats.
<br>
<br>
Welcome to the site!
 
M

Mommafirst

Guest
I have two things to say and I hope they dont' sound contradictory. The first is that I think its great that your doctor is doing the gene test and in the meantime treating her as if she has CF -- why should she wait weeks and weeks for relief while the genes are being tested? I do hope they did a full ambry amplified and not a basic panel (1500+ mutations vs. just 30), but if they didn't they can always do the more extended on if none or just one is found.<br>
<br>
The second thing I want to say is that since your dr implied that they don't do the stool testing very often -- you need to get a specialist in CF. From what I've seen at our CF center, they do lots and lots of stool testing. My daughter is pancreatic sufficient (for now, they tell me anyway), so she has been tested already several times to keep an eye on whether its changing.<br>
<br>
I soooo understand how difficult this time of ambiguity and diagnosis is. I applaud you for working so hard and so quickly in her life to get some answers. Certainly the things you say seem quite CF consistent -- especially when combined together like they are. I do know though, that Celiac's Disease often mirror's symptoms of CF -- and would be a logical option for you to consider persuing as well while they are figuring things out. The treatments for Cf will not help one with Celiac's. Instead their diet would need to remove all gluten's and wheats.
<br>
<br>
Welcome to the site!
 
M

Mommafirst

Guest
I have two things to say and I hope they dont' sound contradictory. The first is that I think its great that your doctor is doing the gene test and in the meantime treating her as if she has CF -- why should she wait weeks and weeks for relief while the genes are being tested? I do hope they did a full ambry amplified and not a basic panel (1500+ mutations vs. just 30), but if they didn't they can always do the more extended on if none or just one is found.<br>
<br>
The second thing I want to say is that since your dr implied that they don't do the stool testing very often -- you need to get a specialist in CF. From what I've seen at our CF center, they do lots and lots of stool testing. My daughter is pancreatic sufficient (for now, they tell me anyway), so she has been tested already several times to keep an eye on whether its changing.<br>
<br>
I soooo understand how difficult this time of ambiguity and diagnosis is. I applaud you for working so hard and so quickly in her life to get some answers. Certainly the things you say seem quite CF consistent -- especially when combined together like they are. I do know though, that Celiac's Disease often mirror's symptoms of CF -- and would be a logical option for you to consider persuing as well while they are figuring things out. The treatments for Cf will not help one with Celiac's. Instead their diet would need to remove all gluten's and wheats.
<br>
<br>
Welcome to the site!
 

Alyssa

New member
I think your doctor is doing the right thing by starting all of her CF treatments while waiting for the genetic test results to come back.

Yes, you need to get to a CF clinic, but the doctor has done a very good thing -- if it is CF he got things started as soon as possible and if it is not CF he would not have caused any harm -- I'm no doctor but I have only heard good things happening from treated "as if they have CF" so in my mind he sounds like a great doc who is doing the best he can for not being a CF doc (that is a pretty rare find)

I know it's hard right now, but count yourself lucky for having chosen a doctor who got things going so quickly -- so many parents have to fight a big battle to get genetic testing.

Best wishes, and please keep us posted.
 

Alyssa

New member
I think your doctor is doing the right thing by starting all of her CF treatments while waiting for the genetic test results to come back.

Yes, you need to get to a CF clinic, but the doctor has done a very good thing -- if it is CF he got things started as soon as possible and if it is not CF he would not have caused any harm -- I'm no doctor but I have only heard good things happening from treated "as if they have CF" so in my mind he sounds like a great doc who is doing the best he can for not being a CF doc (that is a pretty rare find)

I know it's hard right now, but count yourself lucky for having chosen a doctor who got things going so quickly -- so many parents have to fight a big battle to get genetic testing.

Best wishes, and please keep us posted.
 

Alyssa

New member
I think your doctor is doing the right thing by starting all of her CF treatments while waiting for the genetic test results to come back.

Yes, you need to get to a CF clinic, but the doctor has done a very good thing -- if it is CF he got things started as soon as possible and if it is not CF he would not have caused any harm -- I'm no doctor but I have only heard good things happening from treated "as if they have CF" so in my mind he sounds like a great doc who is doing the best he can for not being a CF doc (that is a pretty rare find)

I know it's hard right now, but count yourself lucky for having chosen a doctor who got things going so quickly -- so many parents have to fight a big battle to get genetic testing.

Best wishes, and please keep us posted.
 

Samsmom

New member
Hi everyone!! I am new to this so please bear with me if I goof up. My daughter, Samantha, age 13, was diagnosed with CF last year. I am still confused about the accuracy of her diagnosis. She has a positive sweat test, but only found one mutation in genetic testing (G576A). I feel pretty sure that she has CF, but sometimes wonder if there is more because she does not fit a lot of CF chacteristics. She did not show pancreatic unsufficiency, but does not gain weight, even with enzymes. She has very good lung function and clear sinuses, but was sick when she was younger with URI, pneumo. etc. She also has some other weird things like strong nails but weak, brittle,won't grow hair??? I feel like I'm living one of those mystery diagnosis shows with no end yet. Anyone with any ideas???
 

Samsmom

New member
Hi everyone!! I am new to this so please bear with me if I goof up. My daughter, Samantha, age 13, was diagnosed with CF last year. I am still confused about the accuracy of her diagnosis. She has a positive sweat test, but only found one mutation in genetic testing (G576A). I feel pretty sure that she has CF, but sometimes wonder if there is more because she does not fit a lot of CF chacteristics. She did not show pancreatic unsufficiency, but does not gain weight, even with enzymes. She has very good lung function and clear sinuses, but was sick when she was younger with URI, pneumo. etc. She also has some other weird things like strong nails but weak, brittle,won't grow hair??? I feel like I'm living one of those mystery diagnosis shows with no end yet. Anyone with any ideas???
 

Samsmom

New member
Hi everyone!! I am new to this so please bear with me if I goof up. My daughter, Samantha, age 13, was diagnosed with CF last year. I am still confused about the accuracy of her diagnosis. She has a positive sweat test, but only found one mutation in genetic testing (G576A). I feel pretty sure that she has CF, but sometimes wonder if there is more because she does not fit a lot of CF chacteristics. She did not show pancreatic unsufficiency, but does not gain weight, even with enzymes. She has very good lung function and clear sinuses, but was sick when she was younger with URI, pneumo. etc. She also has some other weird things like strong nails but weak, brittle,won't grow hair??? I feel like I'm living one of those mystery diagnosis shows with no end yet. Anyone with any ideas???
 

wcharland

New member
In reply to Samsmom.
I too just joined (tonight).
I do not have the specific information you referred to in your posting but wanted to suggest to you that you begin a new topic so more of the wonderful people on this site will see your post.
At the risk of "goofing" up on the instructions, here they are:
Click on "New Topic" near the top of your screen; then maybe you would choose "Newly Diagnosed" as the Category; give it a title & summary and then type in your text & post.
Best wishes,
Bill C
 

wcharland

New member
In reply to Samsmom.
I too just joined (tonight).
I do not have the specific information you referred to in your posting but wanted to suggest to you that you begin a new topic so more of the wonderful people on this site will see your post.
At the risk of "goofing" up on the instructions, here they are:
Click on "New Topic" near the top of your screen; then maybe you would choose "Newly Diagnosed" as the Category; give it a title & summary and then type in your text & post.
Best wishes,
Bill C
 
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