posting from "newly diagnosed" forum

boo · Oct 13, 2006

I posted this on the Newly Diagnosed forum and a few people
suggested I should post it here instead......... 
 
I'm really sorry to post on a forum designed
for people who already have a diagnosis but I have been struggling
to find information and wondered if you could help. My son (fourth
child) is five months old. I recently took him to our local
paediatrician for his four month check and as usual I was worried
about his general development, compared to my other three. He is
much weaker physically than any of the others were and although
he's five months old, he still looks like a newborn to me. The
doctor was concerned by his gurgly breathing and said that he must
have bronchitis. I pointed out that he always seemed to have
breathed that way and that he was not unwell (no fever, no cough,
etc) so we hadn't been too worried about it. He prescribed
antibiotics, bronchodilators and something else to clear the mucus.
A week later, there was no change at all. The doctor just said to
continue the meds for another week, which we have done. No change
at all. The gurgling continues and to be honest, it has been there
more or less from birth but did not raise concern because the baby
was otherwise well.



He does not appear to have any problems with
digestion although he was hospitalised a week after he was born for
dehydration. His weight is always down on the 5th
percentile but the doctor is not overly concerned by this and has
put this down to the poor start (and dehydration) he experienced in
his early days due to poor feeding.



He sweats a lot more than my other children
ever did. His head absolutely pours with sweat when he cries. I
read a little about CF and about the saltiness of sweat, etc. but
although his sweat appears salty to me I have no idea what
constitutes "salty" sweat since we all have different
taste buds and I always thought everybody's sweat was
salty.



Anyway, CF has been raised as a concern by a
few family members because everyone has always felt there's
something "not quite right" about his health and nobody
can quite pinpoint what it is. As far as I am aware there's no
family history. My paediatrician never seems to listen when I
have a concern. A second opinion would be quite hard to
arrange (we're in Spain and the system is quite hard to negotiate
at the best of times) and I just want to know whether I am worrying
over nothing. I wondered if anyone could shed any light on whether
the constant gurgling (without a cough) is something to worry about
and whether there are other symptoms common in babies that might
suggest (or rule out) CF.



Thanks in advance for your help.



Boo

boo · Oct 13, 2006

I posted this on the Newly Diagnosed forum and a few people
suggested I should post it here instead......... 
 
I'm really sorry to post on a forum designed
for people who already have a diagnosis but I have been struggling
to find information and wondered if you could help. My son (fourth
child) is five months old. I recently took him to our local
paediatrician for his four month check and as usual I was worried
about his general development, compared to my other three. He is
much weaker physically than any of the others were and although
he's five months old, he still looks like a newborn to me. The
doctor was concerned by his gurgly breathing and said that he must
have bronchitis. I pointed out that he always seemed to have
breathed that way and that he was not unwell (no fever, no cough,
etc) so we hadn't been too worried about it. He prescribed
antibiotics, bronchodilators and something else to clear the mucus.
A week later, there was no change at all. The doctor just said to
continue the meds for another week, which we have done. No change
at all. The gurgling continues and to be honest, it has been there
more or less from birth but did not raise concern because the baby
was otherwise well.



He does not appear to have any problems with
digestion although he was hospitalised a week after he was born for
dehydration. His weight is always down on the 5th
percentile but the doctor is not overly concerned by this and has
put this down to the poor start (and dehydration) he experienced in
his early days due to poor feeding.



He sweats a lot more than my other children
ever did. His head absolutely pours with sweat when he cries. I
read a little about CF and about the saltiness of sweat, etc. but
although his sweat appears salty to me I have no idea what
constitutes "salty" sweat since we all have different
taste buds and I always thought everybody's sweat was
salty.



Anyway, CF has been raised as a concern by a
few family members because everyone has always felt there's
something "not quite right" about his health and nobody
can quite pinpoint what it is. As far as I am aware there's no
family history. My paediatrician never seems to listen when I
have a concern. A second opinion would be quite hard to
arrange (we're in Spain and the system is quite hard to negotiate
at the best of times) and I just want to know whether I am worrying
over nothing. I wondered if anyone could shed any light on whether
the constant gurgling (without a cough) is something to worry about
and whether there are other symptoms common in babies that might
suggest (or rule out) CF.



Thanks in advance for your help.



Boo

boo · Oct 13, 2006

I posted this on the Newly Diagnosed forum and a few people
suggested I should post it here instead......... 
 
I'm really sorry to post on a forum designed
for people who already have a diagnosis but I have been struggling
to find information and wondered if you could help. My son (fourth
child) is five months old. I recently took him to our local
paediatrician for his four month check and as usual I was worried
about his general development, compared to my other three. He is
much weaker physically than any of the others were and although
he's five months old, he still looks like a newborn to me. The
doctor was concerned by his gurgly breathing and said that he must
have bronchitis. I pointed out that he always seemed to have
breathed that way and that he was not unwell (no fever, no cough,
etc) so we hadn't been too worried about it. He prescribed
antibiotics, bronchodilators and something else to clear the mucus.
A week later, there was no change at all. The doctor just said to
continue the meds for another week, which we have done. No change
at all. The gurgling continues and to be honest, it has been there
more or less from birth but did not raise concern because the baby
was otherwise well.



He does not appear to have any problems with
digestion although he was hospitalised a week after he was born for
dehydration. His weight is always down on the 5th
percentile but the doctor is not overly concerned by this and has
put this down to the poor start (and dehydration) he experienced in
his early days due to poor feeding.



He sweats a lot more than my other children
ever did. His head absolutely pours with sweat when he cries. I
read a little about CF and about the saltiness of sweat, etc. but
although his sweat appears salty to me I have no idea what
constitutes "salty" sweat since we all have different
taste buds and I always thought everybody's sweat was
salty.



Anyway, CF has been raised as a concern by a
few family members because everyone has always felt there's
something "not quite right" about his health and nobody
can quite pinpoint what it is. As far as I am aware there's no
family history. My paediatrician never seems to listen when I
have a concern. A second opinion would be quite hard to
arrange (we're in Spain and the system is quite hard to negotiate
at the best of times) and I just want to know whether I am worrying
over nothing. I wondered if anyone could shed any light on whether
the constant gurgling (without a cough) is something to worry about
and whether there are other symptoms common in babies that might
suggest (or rule out) CF.



Thanks in advance for your help.



Boo

amber682 · Oct 13, 2006

posting from "newly diagnosed

First off, no worries on posting here. Its not just for people with a diagnosis.

Follow your gut instinct, mother's intuition, or whatever you may call it. If you feel there's something wrong with your son don't stop fighting until someone listens! Somethings not right if he gurgles all the time. Does he sound junky and congested when he breathes? The gurgly sounds and small size and low percentile could point to CF, but I'm no doctor. The only thing that will confirm or rule out a diagnosis is a sweat test or genetic screening. And every case is so different. But here's some things to think about. Does he taste salty compared to the other kids? My son tastes very salty even when he's not very sweaty. Does he seem to always be hungry? Does he have too many poopy diapers, as compared to what the other kids had? Are they very stinky, oily, or greasy looking? Overflowing the diaper? Maybe mucusy looking?

I don't think you're worrying over nothing though. If you think something is not right, don't stop fighting until that doctor listens to your concerns. Refuse to leave if you have to. Maybe you can get him in to see a pulmonologist? It took a lot of fighting for my son's doctors to test for CF. It seems pediatricians generally place it pretty low on the list of possible causes for symptoms. Keep us posted and feel free to ask more questions. I hope more people respond to this.

amber682 · Oct 13, 2006

posting from "newly diagnosed

First off, no worries on posting here. Its not just for people with a diagnosis.

Follow your gut instinct, mother's intuition, or whatever you may call it. If you feel there's something wrong with your son don't stop fighting until someone listens! Somethings not right if he gurgles all the time. Does he sound junky and congested when he breathes? The gurgly sounds and small size and low percentile could point to CF, but I'm no doctor. The only thing that will confirm or rule out a diagnosis is a sweat test or genetic screening. And every case is so different. But here's some things to think about. Does he taste salty compared to the other kids? My son tastes very salty even when he's not very sweaty. Does he seem to always be hungry? Does he have too many poopy diapers, as compared to what the other kids had? Are they very stinky, oily, or greasy looking? Overflowing the diaper? Maybe mucusy looking?

I don't think you're worrying over nothing though. If you think something is not right, don't stop fighting until that doctor listens to your concerns. Refuse to leave if you have to. Maybe you can get him in to see a pulmonologist? It took a lot of fighting for my son's doctors to test for CF. It seems pediatricians generally place it pretty low on the list of possible causes for symptoms. Keep us posted and feel free to ask more questions. I hope more people respond to this.

amber682 · Oct 13, 2006

posting from "newly diagnosed

First off, no worries on posting here. Its not just for people with a diagnosis.

Follow your gut instinct, mother's intuition, or whatever you may call it. If you feel there's something wrong with your son don't stop fighting until someone listens! Somethings not right if he gurgles all the time. Does he sound junky and congested when he breathes? The gurgly sounds and small size and low percentile could point to CF, but I'm no doctor. The only thing that will confirm or rule out a diagnosis is a sweat test or genetic screening. And every case is so different. But here's some things to think about. Does he taste salty compared to the other kids? My son tastes very salty even when he's not very sweaty. Does he seem to always be hungry? Does he have too many poopy diapers, as compared to what the other kids had? Are they very stinky, oily, or greasy looking? Overflowing the diaper? Maybe mucusy looking?

I don't think you're worrying over nothing though. If you think something is not right, don't stop fighting until that doctor listens to your concerns. Refuse to leave if you have to. Maybe you can get him in to see a pulmonologist? It took a lot of fighting for my son's doctors to test for CF. It seems pediatricians generally place it pretty low on the list of possible causes for symptoms. Keep us posted and feel free to ask more questions. I hope more people respond to this.

Nicole · Oct 13, 2006

posting from "newly diagnosed

I just want to add something about the salty tasting sweat. My son is 2 and he has tasted salty on only maybe 2 occasions. So I don't know that the salt thing is very reliable to go by. I mean, if he definitely tastes salty that might be a clue but if he doesn't that might not rule Cf out either. We had a possible diagnosis before birth and for the first 2 days after birth, while we were waiting for results, I can't tell you how many times I licked his forhead to see if he tasted salty<img src="i/expressions/face-icon-small-tongue.gif" border="0"> i would tell my husband to do it too and see what he thought. He didn't then--gave me a little false hope. Anyway, I agree with persisting until you find the answers you need. best wishes to you!

Nicole · Oct 13, 2006

posting from "newly diagnosed

I just want to add something about the salty tasting sweat. My son is 2 and he has tasted salty on only maybe 2 occasions. So I don't know that the salt thing is very reliable to go by. I mean, if he definitely tastes salty that might be a clue but if he doesn't that might not rule Cf out either. We had a possible diagnosis before birth and for the first 2 days after birth, while we were waiting for results, I can't tell you how many times I licked his forhead to see if he tasted salty<img src="i/expressions/face-icon-small-tongue.gif" border="0"> i would tell my husband to do it too and see what he thought. He didn't then--gave me a little false hope. Anyway, I agree with persisting until you find the answers you need. best wishes to you!

Nicole · Oct 13, 2006

posting from "newly diagnosed

I just want to add something about the salty tasting sweat. My son is 2 and he has tasted salty on only maybe 2 occasions. So I don't know that the salt thing is very reliable to go by. I mean, if he definitely tastes salty that might be a clue but if he doesn't that might not rule Cf out either. We had a possible diagnosis before birth and for the first 2 days after birth, while we were waiting for results, I can't tell you how many times I licked his forhead to see if he tasted salty<img src="i/expressions/face-icon-small-tongue.gif" border="0"> i would tell my husband to do it too and see what he thought. He didn't then--gave me a little false hope. Anyway, I agree with persisting until you find the answers you need. best wishes to you!

coltsfan715 · Oct 14, 2006

posting from "newly diagnosed

I agree with the others. I am NOT a mother - but I know that my mom felt something was not quite right with me either when I was young - I started developing problems at about 6 months - weightloss and respiratory problems. She kept saying something is wrong something is wrong and no one would listen to her - they just kept saying she was an over protective parent - or that she was over reacting. That went on until I was 1 year old and a doctor finally listened to my mom and smelled my diaper lol ... and said hmmm I think we should test her for CF. Then tada what do you know .. I have CF.

As for previous family history. You don't have to have a family history for your child to have CF. Due to the fact that CF is recessive and you need 2 genes to have it - a mutated gene for CF can be passed on through families for generations with no one having the disease. My family is this way - NO family member or ancestor has ever been diagnosed. There are ancestors they speculate had CF because the displayed symptoms - poor weight gain, small build, respiratory problem - but no one was ever diagnosed with anything, so technically there is no family history for me either.

I hope that you can get someone to listen to you and get a doctor to explore all avenues with your sons health. Best of luck in finding out what is going on.

Take Care,
Lindsey

coltsfan715 · Oct 14, 2006

posting from "newly diagnosed

I agree with the others. I am NOT a mother - but I know that my mom felt something was not quite right with me either when I was young - I started developing problems at about 6 months - weightloss and respiratory problems. She kept saying something is wrong something is wrong and no one would listen to her - they just kept saying she was an over protective parent - or that she was over reacting. That went on until I was 1 year old and a doctor finally listened to my mom and smelled my diaper lol ... and said hmmm I think we should test her for CF. Then tada what do you know .. I have CF.

As for previous family history. You don't have to have a family history for your child to have CF. Due to the fact that CF is recessive and you need 2 genes to have it - a mutated gene for CF can be passed on through families for generations with no one having the disease. My family is this way - NO family member or ancestor has ever been diagnosed. There are ancestors they speculate had CF because the displayed symptoms - poor weight gain, small build, respiratory problem - but no one was ever diagnosed with anything, so technically there is no family history for me either.

I hope that you can get someone to listen to you and get a doctor to explore all avenues with your sons health. Best of luck in finding out what is going on.

Take Care,
Lindsey

coltsfan715 · Oct 14, 2006

posting from "newly diagnosed

I agree with the others. I am NOT a mother - but I know that my mom felt something was not quite right with me either when I was young - I started developing problems at about 6 months - weightloss and respiratory problems. She kept saying something is wrong something is wrong and no one would listen to her - they just kept saying she was an over protective parent - or that she was over reacting. That went on until I was 1 year old and a doctor finally listened to my mom and smelled my diaper lol ... and said hmmm I think we should test her for CF. Then tada what do you know .. I have CF.

As for previous family history. You don't have to have a family history for your child to have CF. Due to the fact that CF is recessive and you need 2 genes to have it - a mutated gene for CF can be passed on through families for generations with no one having the disease. My family is this way - NO family member or ancestor has ever been diagnosed. There are ancestors they speculate had CF because the displayed symptoms - poor weight gain, small build, respiratory problem - but no one was ever diagnosed with anything, so technically there is no family history for me either.

I hope that you can get someone to listen to you and get a doctor to explore all avenues with your sons health. Best of luck in finding out what is going on.

Take Care,
Lindsey

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

If you can find a second opinion. Malabsorption of nutrients (which can be a cause for low gain and slower development) can be subtle at first. Gurgling, weaker in muscle stature/tone, and the other things you are discribing are reason enough to demand a blood test (please consider the Guthrey Panel test or one from Ambrey). These tests look for more mutations of the gene and will save you retesting. I would also immediately demand that his vitamin levels, protein and elextrolytes be tested to be sure they are within the normal range. Deficiencies in any of these due to malabsorption can be very serious.

Please use you mommy radar and go elsewhere if this doctor doesn't take you serioulsy. Even if it is not CF it sound like something needs to be investigated. We had to push and we have the very best Children's hospitals within miles of us. CF can really stump the peditricians and it presents differently for everyone. Be rude and pushy if you have to...your son needs you to.

Keep us posted...of course we all hope CF is not the case here.

Warmly,
Jody

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

If you can find a second opinion. Malabsorption of nutrients (which can be a cause for low gain and slower development) can be subtle at first. Gurgling, weaker in muscle stature/tone, and the other things you are discribing are reason enough to demand a blood test (please consider the Guthrey Panel test or one from Ambrey). These tests look for more mutations of the gene and will save you retesting. I would also immediately demand that his vitamin levels, protein and elextrolytes be tested to be sure they are within the normal range. Deficiencies in any of these due to malabsorption can be very serious.

Please use you mommy radar and go elsewhere if this doctor doesn't take you serioulsy. Even if it is not CF it sound like something needs to be investigated. We had to push and we have the very best Children's hospitals within miles of us. CF can really stump the peditricians and it presents differently for everyone. Be rude and pushy if you have to...your son needs you to.

Keep us posted...of course we all hope CF is not the case here.

Warmly,
Jody

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

If you can find a second opinion. Malabsorption of nutrients (which can be a cause for low gain and slower development) can be subtle at first. Gurgling, weaker in muscle stature/tone, and the other things you are discribing are reason enough to demand a blood test (please consider the Guthrey Panel test or one from Ambrey). These tests look for more mutations of the gene and will save you retesting. I would also immediately demand that his vitamin levels, protein and elextrolytes be tested to be sure they are within the normal range. Deficiencies in any of these due to malabsorption can be very serious.

Please use you mommy radar and go elsewhere if this doctor doesn't take you serioulsy. Even if it is not CF it sound like something needs to be investigated. We had to push and we have the very best Children's hospitals within miles of us. CF can really stump the peditricians and it presents differently for everyone. Be rude and pushy if you have to...your son needs you to.

Keep us posted...of course we all hope CF is not the case here.

Warmly,
Jody

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

Those vitamins levels should be the fat soluable at bare minimum ADEK. Also demand a sweat test.

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

Those vitamins levels should be the fat soluable at bare minimum ADEK. Also demand a sweat test.

JRPandTJP · Oct 14, 2006

posting from "newly diagnosed

Those vitamins levels should be the fat soluable at bare minimum ADEK. Also demand a sweat test.

boo · Oct 14, 2006

posting from "newly diagnosed

Thank you all for your replies. I am due to go back to the doctor
in three days. I am hoping that he will investigate further once he
sees that the second round of antibiotics and other meds has made
no difference. Hopefully I won't have to push too hard.
He seems to blame everything on this early period of
dehydration but now that I think back, although my son was feeding
pretty poorly, he WAS feeding and it now strikes me as odd that he
got so dehydrated in the first place. This has never been
investigated. Is there a link with dehydration in babies
and CF? 
 
With regard to his sweat, it IS salty (stings my tongue at times)
but my 18month old (my comparison) doesn't tend to sweat as much
and his head doesn't taste of anything at all, so it's hard to
tell. I think I will stop licking the poor kid's head now and just
wait and see what the doctor says! 
 
His poop appears normal to me. Maybe once a week he'll pass one
that's very oily and curdled but the rest of the time it's
clay-coloured and not too smelly at all. I'm not as
worried about his digestion as his breathing. 
 
Once again, thank you all for you replies. It has made me much more
determined to make sure the doctor looks into what's causing his
symptoms. I will keep you all posted either way. 
 
Boo

boo · Oct 14, 2006

posting from "newly diagnosed

Thank you all for your replies. I am due to go back to the doctor
in three days. I am hoping that he will investigate further once he
sees that the second round of antibiotics and other meds has made
no difference. Hopefully I won't have to push too hard.
He seems to blame everything on this early period of
dehydration but now that I think back, although my son was feeding
pretty poorly, he WAS feeding and it now strikes me as odd that he
got so dehydrated in the first place. This has never been
investigated. Is there a link with dehydration in babies
and CF? 
 
With regard to his sweat, it IS salty (stings my tongue at times)
but my 18month old (my comparison) doesn't tend to sweat as much
and his head doesn't taste of anything at all, so it's hard to
tell. I think I will stop licking the poor kid's head now and just
wait and see what the doctor says! 
 
His poop appears normal to me. Maybe once a week he'll pass one
that's very oily and curdled but the rest of the time it's
clay-coloured and not too smelly at all. I'm not as
worried about his digestion as his breathing. 
 
Once again, thank you all for you replies. It has made me much more
determined to make sure the doctor looks into what's causing his
symptoms. I will keep you all posted either way. 
 
Boo

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