IS IT CF?

H

Happy1

Guest
My son is 21 months old and has chronic diarrhea. His stools have never been normal always loose and vary in color. He had a spot on his liver they found when I was about 20 weeks gestation. This was still there at birth but liver functioned fine. That said nothing to worry about.
I was sent to a specialist when it was discovered on my OB visit who mentioned the possibility of CF. They checked me for the most common 25 mutations. They said I was not a carrier of them.
My nephew from my husbands side has CF. Could my son have a mild form with just the digestive issues at this time.
He has not gained any weight since his first birthday and is very fussy like he hurts all the time.
We have an appt. Monday with his pediatrician so I can discuss some of my concerns. I have been researching different conditions and was wondering if anyone could give me some insight on what they think.
 
H

Happy1

Guest
My son is 21 months old and has chronic diarrhea. His stools have never been normal always loose and vary in color. He had a spot on his liver they found when I was about 20 weeks gestation. This was still there at birth but liver functioned fine. That said nothing to worry about.
I was sent to a specialist when it was discovered on my OB visit who mentioned the possibility of CF. They checked me for the most common 25 mutations. They said I was not a carrier of them.
My nephew from my husbands side has CF. Could my son have a mild form with just the digestive issues at this time.
He has not gained any weight since his first birthday and is very fussy like he hurts all the time.
We have an appt. Monday with his pediatrician so I can discuss some of my concerns. I have been researching different conditions and was wondering if anyone could give me some insight on what they think.
 
H

Happy1

Guest
My son is 21 months old and has chronic diarrhea. His stools have never been normal always loose and vary in color. He had a spot on his liver they found when I was about 20 weeks gestation. This was still there at birth but liver functioned fine. That said nothing to worry about.
I was sent to a specialist when it was discovered on my OB visit who mentioned the possibility of CF. They checked me for the most common 25 mutations. They said I was not a carrier of them.
My nephew from my husbands side has CF. Could my son have a mild form with just the digestive issues at this time.
He has not gained any weight since his first birthday and is very fussy like he hurts all the time.
We have an appt. Monday with his pediatrician so I can discuss some of my concerns. I have been researching different conditions and was wondering if anyone could give me some insight on what they think.
 
H

Happy1

Guest
My son is 21 months old and has chronic diarrhea. His stools have never been normal always loose and vary in color. He had a spot on his liver they found when I was about 20 weeks gestation. This was still there at birth but liver functioned fine. That said nothing to worry about.
I was sent to a specialist when it was discovered on my OB visit who mentioned the possibility of CF. They checked me for the most common 25 mutations. They said I was not a carrier of them.
My nephew from my husbands side has CF. Could my son have a mild form with just the digestive issues at this time.
He has not gained any weight since his first birthday and is very fussy like he hurts all the time.
We have an appt. Monday with his pediatrician so I can discuss some of my concerns. I have been researching different conditions and was wondering if anyone could give me some insight on what they think.
 
H

Happy1

Guest
My son is 21 months old and has chronic diarrhea. His stools have never been normal always loose and vary in color. He had a spot on his liver they found when I was about 20 weeks gestation. This was still there at birth but liver functioned fine. That said nothing to worry about.
<br />I was sent to a specialist when it was discovered on my OB visit who mentioned the possibility of CF. They checked me for the most common 25 mutations. They said I was not a carrier of them.
<br />My nephew from my husbands side has CF. Could my son have a mild form with just the digestive issues at this time.
<br />He has not gained any weight since his first birthday and is very fussy like he hurts all the time.
<br />We have an appt. Monday with his pediatrician so I can discuss some of my concerns. I have been researching different conditions and was wondering if anyone could give me some insight on what they think.
 
R

Ratatosk

Administrator
Staff member
My son is 5 and most of his symptoms are digestive. Without digestive enzymes he has very loose stools. He was born with a bowel obstruction. We struggle to keep him at a healthy weight. When DS was diagnosed shortly after birth, his doctor indicated that CF is a progressive disease. No such thing as a mild case. Cfers are born with healthy lungs; however, with infections, thick sticky mucus, eventually the lungs will become affected.

IMO, I would push for extensive genetic blood testing. Ambry amplified... Especially with a relative wcf.
 
R

Ratatosk

Administrator
Staff member
My son is 5 and most of his symptoms are digestive. Without digestive enzymes he has very loose stools. He was born with a bowel obstruction. We struggle to keep him at a healthy weight. When DS was diagnosed shortly after birth, his doctor indicated that CF is a progressive disease. No such thing as a mild case. Cfers are born with healthy lungs; however, with infections, thick sticky mucus, eventually the lungs will become affected.

IMO, I would push for extensive genetic blood testing. Ambry amplified... Especially with a relative wcf.
 
R

Ratatosk

Administrator
Staff member
My son is 5 and most of his symptoms are digestive. Without digestive enzymes he has very loose stools. He was born with a bowel obstruction. We struggle to keep him at a healthy weight. When DS was diagnosed shortly after birth, his doctor indicated that CF is a progressive disease. No such thing as a mild case. Cfers are born with healthy lungs; however, with infections, thick sticky mucus, eventually the lungs will become affected.

IMO, I would push for extensive genetic blood testing. Ambry amplified... Especially with a relative wcf.
 
R

Ratatosk

Administrator
Staff member
My son is 5 and most of his symptoms are digestive. Without digestive enzymes he has very loose stools. He was born with a bowel obstruction. We struggle to keep him at a healthy weight. When DS was diagnosed shortly after birth, his doctor indicated that CF is a progressive disease. No such thing as a mild case. Cfers are born with healthy lungs; however, with infections, thick sticky mucus, eventually the lungs will become affected.

IMO, I would push for extensive genetic blood testing. Ambry amplified... Especially with a relative wcf.
 
R

Ratatosk

Administrator
Staff member
My son is 5 and most of his symptoms are digestive. Without digestive enzymes he has very loose stools. He was born with a bowel obstruction. We struggle to keep him at a healthy weight. When DS was diagnosed shortly after birth, his doctor indicated that CF is a progressive disease. No such thing as a mild case. Cfers are born with healthy lungs; however, with infections, thick sticky mucus, eventually the lungs will become affected.
<br />
<br />IMO, I would push for extensive genetic blood testing. Ambry amplified... Especially with a relative wcf.
 
J

JORDYSMOM

New member
Hi and welcome. I'm sorry your son is hurting, and I hope you find the answers you need to help him very soon.

There are over 1500 CF mutations, so testing for only 25 of them is just not adequate. I don't think you can rule out CF until you test for all of them. I wish you and your family the best. Please let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
Hi and welcome. I'm sorry your son is hurting, and I hope you find the answers you need to help him very soon.

There are over 1500 CF mutations, so testing for only 25 of them is just not adequate. I don't think you can rule out CF until you test for all of them. I wish you and your family the best. Please let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
Hi and welcome. I'm sorry your son is hurting, and I hope you find the answers you need to help him very soon.

There are over 1500 CF mutations, so testing for only 25 of them is just not adequate. I don't think you can rule out CF until you test for all of them. I wish you and your family the best. Please let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
Hi and welcome. I'm sorry your son is hurting, and I hope you find the answers you need to help him very soon.

There are over 1500 CF mutations, so testing for only 25 of them is just not adequate. I don't think you can rule out CF until you test for all of them. I wish you and your family the best. Please let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
Hi and welcome. I'm sorry your son is hurting, and I hope you find the answers you need to help him very soon.
<br />
<br />There are over 1500 CF mutations, so testing for only 25 of them is just not adequate. I don't think you can rule out CF until you test for all of them. I wish you and your family the best. Please let us know what you find out.
<br />
<br />Stacey
 
H

Happy1

Guest
I am so confused if there are no mild forms and CF is such a progressive disease then how are there people on this forum who were not diagnosed until 20's 30's and even 40's?
My daughter who is now 7 has had a chronic upper respiratory problem her whole life and they did a sweat test on her at about 2 1/2 I was just told it was negative.
Does anyone think I should have him tested and which would be the most accurate a sweat test or genetic testing?
 
H

Happy1

Guest
I am so confused if there are no mild forms and CF is such a progressive disease then how are there people on this forum who were not diagnosed until 20's 30's and even 40's?
My daughter who is now 7 has had a chronic upper respiratory problem her whole life and they did a sweat test on her at about 2 1/2 I was just told it was negative.
Does anyone think I should have him tested and which would be the most accurate a sweat test or genetic testing?
 
H

Happy1

Guest
I am so confused if there are no mild forms and CF is such a progressive disease then how are there people on this forum who were not diagnosed until 20's 30's and even 40's?
My daughter who is now 7 has had a chronic upper respiratory problem her whole life and they did a sweat test on her at about 2 1/2 I was just told it was negative.
Does anyone think I should have him tested and which would be the most accurate a sweat test or genetic testing?
 
H

Happy1

Guest
I am so confused if there are no mild forms and CF is such a progressive disease then how are there people on this forum who were not diagnosed until 20's 30's and even 40's?
My daughter who is now 7 has had a chronic upper respiratory problem her whole life and they did a sweat test on her at about 2 1/2 I was just told it was negative.
Does anyone think I should have him tested and which would be the most accurate a sweat test or genetic testing?
 
H

Happy1

Guest
I am so confused if there are no mild forms and CF is such a progressive disease then how are there people on this forum who were not diagnosed until 20's 30's and even 40's?
<br />My daughter who is now 7 has had a chronic upper respiratory problem her whole life and they did a sweat test on her at about 2 1/2 I was just told it was negative.
<br />Does anyone think I should have him tested and which would be the most accurate a sweat test or genetic testing?
 
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