1 yr old being tested for CF among other things.

G

GracieMae

New member
My 1 yr old niece is currently in the hospital being tested for CF among other things. Here is her story.

Gracie was born on Aug 27, 2007. She weighed 7lb 11 oz at birth and was 20 in long. At 1 year of age she weighs 14lbs 2 oz. She is not even on the charts for weight and is in the 25% for height. Her Doctor has been doing weight checks on her for the last 5 months and in those 5 months Gracie has not gained any weight despite eating non-stop! Developmently she is right on target. She crawls, pulls herself up and is starting to walk.

One of the things the Doctor's have told my sister is that they think she might have celiac disease which is an allergy to wheat, flour, barley, etc. After researching this disease I just don't agree. Here are what she does have.

1) failure to gain weight.
2) lots of pooping going on with that little girl. Although my sister did say she is down to 4 times a day.
3) smelly poop. Can clear not only the room but the house!
4) my sister did say that Gracie's poop doesn't look normal but didn't define how to me.

What she doesn't have
1) any problems with her respiratory system
2) extended abdomen
3) pain anywhere... unless she falls <img src="">

The Doctor admitted my niece to the hospital because he said it could take up to 3 months to get her tested for CF and he is not waiting that long. My sister said that the test they did for CF was sent out to the Mayo clinic. They also tested her urine, fecal and various blood tests but to my knowledge no genetic testing was done.

There is no family history of CF on either side.

I know my sister will be a strong advocate for my niece but if she doesn't know what to advocate for it's hard to do. Some suggestions?

Thanks
Gracie's Aunt
 
G

GracieMae

New member
My 1 yr old niece is currently in the hospital being tested for CF among other things. Here is her story.

Gracie was born on Aug 27, 2007. She weighed 7lb 11 oz at birth and was 20 in long. At 1 year of age she weighs 14lbs 2 oz. She is not even on the charts for weight and is in the 25% for height. Her Doctor has been doing weight checks on her for the last 5 months and in those 5 months Gracie has not gained any weight despite eating non-stop! Developmently she is right on target. She crawls, pulls herself up and is starting to walk.

One of the things the Doctor's have told my sister is that they think she might have celiac disease which is an allergy to wheat, flour, barley, etc. After researching this disease I just don't agree. Here are what she does have.

1) failure to gain weight.
2) lots of pooping going on with that little girl. Although my sister did say she is down to 4 times a day.
3) smelly poop. Can clear not only the room but the house!
4) my sister did say that Gracie's poop doesn't look normal but didn't define how to me.

What she doesn't have
1) any problems with her respiratory system
2) extended abdomen
3) pain anywhere... unless she falls <img src="">

The Doctor admitted my niece to the hospital because he said it could take up to 3 months to get her tested for CF and he is not waiting that long. My sister said that the test they did for CF was sent out to the Mayo clinic. They also tested her urine, fecal and various blood tests but to my knowledge no genetic testing was done.

There is no family history of CF on either side.

I know my sister will be a strong advocate for my niece but if she doesn't know what to advocate for it's hard to do. Some suggestions?

Thanks
Gracie's Aunt
 
G

GracieMae

New member
My 1 yr old niece is currently in the hospital being tested for CF among other things. Here is her story.

Gracie was born on Aug 27, 2007. She weighed 7lb 11 oz at birth and was 20 in long. At 1 year of age she weighs 14lbs 2 oz. She is not even on the charts for weight and is in the 25% for height. Her Doctor has been doing weight checks on her for the last 5 months and in those 5 months Gracie has not gained any weight despite eating non-stop! Developmently she is right on target. She crawls, pulls herself up and is starting to walk.

One of the things the Doctor's have told my sister is that they think she might have celiac disease which is an allergy to wheat, flour, barley, etc. After researching this disease I just don't agree. Here are what she does have.

1) failure to gain weight.
2) lots of pooping going on with that little girl. Although my sister did say she is down to 4 times a day.
3) smelly poop. Can clear not only the room but the house!
4) my sister did say that Gracie's poop doesn't look normal but didn't define how to me.

What she doesn't have
1) any problems with her respiratory system
2) extended abdomen
3) pain anywhere... unless she falls <img src="">

The Doctor admitted my niece to the hospital because he said it could take up to 3 months to get her tested for CF and he is not waiting that long. My sister said that the test they did for CF was sent out to the Mayo clinic. They also tested her urine, fecal and various blood tests but to my knowledge no genetic testing was done.

There is no family history of CF on either side.

I know my sister will be a strong advocate for my niece but if she doesn't know what to advocate for it's hard to do. Some suggestions?

Thanks
Gracie's Aunt
 
G

GracieMae

New member
My 1 yr old niece is currently in the hospital being tested for CF among other things. Here is her story.

Gracie was born on Aug 27, 2007. She weighed 7lb 11 oz at birth and was 20 in long. At 1 year of age she weighs 14lbs 2 oz. She is not even on the charts for weight and is in the 25% for height. Her Doctor has been doing weight checks on her for the last 5 months and in those 5 months Gracie has not gained any weight despite eating non-stop! Developmently she is right on target. She crawls, pulls herself up and is starting to walk.

One of the things the Doctor's have told my sister is that they think she might have celiac disease which is an allergy to wheat, flour, barley, etc. After researching this disease I just don't agree. Here are what she does have.

1) failure to gain weight.
2) lots of pooping going on with that little girl. Although my sister did say she is down to 4 times a day.
3) smelly poop. Can clear not only the room but the house!
4) my sister did say that Gracie's poop doesn't look normal but didn't define how to me.

What she doesn't have
1) any problems with her respiratory system
2) extended abdomen
3) pain anywhere... unless she falls <img src="">

The Doctor admitted my niece to the hospital because he said it could take up to 3 months to get her tested for CF and he is not waiting that long. My sister said that the test they did for CF was sent out to the Mayo clinic. They also tested her urine, fecal and various blood tests but to my knowledge no genetic testing was done.

There is no family history of CF on either side.

I know my sister will be a strong advocate for my niece but if she doesn't know what to advocate for it's hard to do. Some suggestions?

Thanks
Gracie's Aunt
 
G

GracieMae

New member
My 1 yr old niece is currently in the hospital being tested for CF among other things. Here is her story.
<br />
<br />Gracie was born on Aug 27, 2007. She weighed 7lb 11 oz at birth and was 20 in long. At 1 year of age she weighs 14lbs 2 oz. She is not even on the charts for weight and is in the 25% for height. Her Doctor has been doing weight checks on her for the last 5 months and in those 5 months Gracie has not gained any weight despite eating non-stop! Developmently she is right on target. She crawls, pulls herself up and is starting to walk.
<br />
<br />One of the things the Doctor's have told my sister is that they think she might have celiac disease which is an allergy to wheat, flour, barley, etc. After researching this disease I just don't agree. Here are what she does have.
<br />
<br />1) failure to gain weight.
<br />2) lots of pooping going on with that little girl. Although my sister did say she is down to 4 times a day.
<br />3) smelly poop. Can clear not only the room but the house!
<br />4) my sister did say that Gracie's poop doesn't look normal but didn't define how to me.
<br />
<br />What she doesn't have
<br />1) any problems with her respiratory system
<br />2) extended abdomen
<br />3) pain anywhere... unless she falls <img src="">
<br />
<br />The Doctor admitted my niece to the hospital because he said it could take up to 3 months to get her tested for CF and he is not waiting that long. My sister said that the test they did for CF was sent out to the Mayo clinic. They also tested her urine, fecal and various blood tests but to my knowledge no genetic testing was done.
<br />
<br />There is no family history of CF on either side.
<br />
<br />I know my sister will be a strong advocate for my niece but if she doesn't know what to advocate for it's hard to do. Some suggestions?
<br />
<br />Thanks
<br />Gracie's Aunt
 
M

Mommafirst

Guest
Sounds like your niece and sister are dealing with a good doctor. I definitely think both Celiac's and CF should be fully tested for -- neither are simple yes/no tests.

At one year old, a CFer wouldn't necessarily have lung issues (my dd doesn't and many on this site don't).

Best of luck. I hope you get answers quickly, and Ihope they dont' miss anything. Just encourage your sister to keep pushing forward, answers may be tough to hear, but they give a direction to help her precious little girl.
 
M

Mommafirst

Guest
Sounds like your niece and sister are dealing with a good doctor. I definitely think both Celiac's and CF should be fully tested for -- neither are simple yes/no tests.

At one year old, a CFer wouldn't necessarily have lung issues (my dd doesn't and many on this site don't).

Best of luck. I hope you get answers quickly, and Ihope they dont' miss anything. Just encourage your sister to keep pushing forward, answers may be tough to hear, but they give a direction to help her precious little girl.
 
M

Mommafirst

Guest
Sounds like your niece and sister are dealing with a good doctor. I definitely think both Celiac's and CF should be fully tested for -- neither are simple yes/no tests.

At one year old, a CFer wouldn't necessarily have lung issues (my dd doesn't and many on this site don't).

Best of luck. I hope you get answers quickly, and Ihope they dont' miss anything. Just encourage your sister to keep pushing forward, answers may be tough to hear, but they give a direction to help her precious little girl.
 
M

Mommafirst

Guest
Sounds like your niece and sister are dealing with a good doctor. I definitely think both Celiac's and CF should be fully tested for -- neither are simple yes/no tests.

At one year old, a CFer wouldn't necessarily have lung issues (my dd doesn't and many on this site don't).

Best of luck. I hope you get answers quickly, and Ihope they dont' miss anything. Just encourage your sister to keep pushing forward, answers may be tough to hear, but they give a direction to help her precious little girl.
 
M

Mommafirst

Guest
Sounds like your niece and sister are dealing with a good doctor. I definitely think both Celiac's and CF should be fully tested for -- neither are simple yes/no tests.
<br />
<br />At one year old, a CFer wouldn't necessarily have lung issues (my dd doesn't and many on this site don't).
<br />
<br />Best of luck. I hope you get answers quickly, and Ihope they dont' miss anything. Just encourage your sister to keep pushing forward, answers may be tough to hear, but they give a direction to help her precious little girl.
 
S

sdelorenzo

Guest
Welcome! It does sound like their is a good possibility your niece might have cf. There are two ways to test for cf. One is a sweat test that takes about 30 minutes-1 hr at the hospital. You get the results the same day or the next. The other way is genetic testing. They take blood and send it off. So it does sound like your niece had genetic testing done. I don't think the Mayo clinic tests for all 1800 cf genes. So if the testing comes back negative or she is only a carrier, your sister could request that other blood work be sent off to one of two companies: Ambry or Genzyme.

Also, while they are waiting on the results, it might be a good idea for your sister to ask the dr to give your niece enzymes (Ultrase or Creon brands). Drs sometimes do this without a diagnosis to see if the child gains weight. It doesn't hurt the child if they in fact they did not need the enzymes. Hope the drs find some answers soon!
Sharon, mom of Sophia, 7 and Jack, 5 both with cf
 
S

sdelorenzo

Guest
Welcome! It does sound like their is a good possibility your niece might have cf. There are two ways to test for cf. One is a sweat test that takes about 30 minutes-1 hr at the hospital. You get the results the same day or the next. The other way is genetic testing. They take blood and send it off. So it does sound like your niece had genetic testing done. I don't think the Mayo clinic tests for all 1800 cf genes. So if the testing comes back negative or she is only a carrier, your sister could request that other blood work be sent off to one of two companies: Ambry or Genzyme.

Also, while they are waiting on the results, it might be a good idea for your sister to ask the dr to give your niece enzymes (Ultrase or Creon brands). Drs sometimes do this without a diagnosis to see if the child gains weight. It doesn't hurt the child if they in fact they did not need the enzymes. Hope the drs find some answers soon!
Sharon, mom of Sophia, 7 and Jack, 5 both with cf
 
S

sdelorenzo

Guest
Welcome! It does sound like their is a good possibility your niece might have cf. There are two ways to test for cf. One is a sweat test that takes about 30 minutes-1 hr at the hospital. You get the results the same day or the next. The other way is genetic testing. They take blood and send it off. So it does sound like your niece had genetic testing done. I don't think the Mayo clinic tests for all 1800 cf genes. So if the testing comes back negative or she is only a carrier, your sister could request that other blood work be sent off to one of two companies: Ambry or Genzyme.

Also, while they are waiting on the results, it might be a good idea for your sister to ask the dr to give your niece enzymes (Ultrase or Creon brands). Drs sometimes do this without a diagnosis to see if the child gains weight. It doesn't hurt the child if they in fact they did not need the enzymes. Hope the drs find some answers soon!
Sharon, mom of Sophia, 7 and Jack, 5 both with cf
 
S

sdelorenzo

Guest
Welcome! It does sound like their is a good possibility your niece might have cf. There are two ways to test for cf. One is a sweat test that takes about 30 minutes-1 hr at the hospital. You get the results the same day or the next. The other way is genetic testing. They take blood and send it off. So it does sound like your niece had genetic testing done. I don't think the Mayo clinic tests for all 1800 cf genes. So if the testing comes back negative or she is only a carrier, your sister could request that other blood work be sent off to one of two companies: Ambry or Genzyme.

Also, while they are waiting on the results, it might be a good idea for your sister to ask the dr to give your niece enzymes (Ultrase or Creon brands). Drs sometimes do this without a diagnosis to see if the child gains weight. It doesn't hurt the child if they in fact they did not need the enzymes. Hope the drs find some answers soon!
Sharon, mom of Sophia, 7 and Jack, 5 both with cf
 
S

sdelorenzo

Guest
Welcome! It does sound like their is a good possibility your niece might have cf. There are two ways to test for cf. One is a sweat test that takes about 30 minutes-1 hr at the hospital. You get the results the same day or the next. The other way is genetic testing. They take blood and send it off. So it does sound like your niece had genetic testing done. I don't think the Mayo clinic tests for all 1800 cf genes. So if the testing comes back negative or she is only a carrier, your sister could request that other blood work be sent off to one of two companies: Ambry or Genzyme.
<br />
<br />Also, while they are waiting on the results, it might be a good idea for your sister to ask the dr to give your niece enzymes (Ultrase or Creon brands). Drs sometimes do this without a diagnosis to see if the child gains weight. It doesn't hurt the child if they in fact they did not need the enzymes. Hope the drs find some answers soon!
<br />Sharon, mom of Sophia, 7 and Jack, 5 both with cf
 
G

GracieMae

New member
I just got off the phone with my sister and Gracie has been sent home until the test results come back. Her blood work came back normal other than a slightly elevated WBC count.

She did say that they did 2 sweat tests one on each arm. Or is that how they do the sweat test? One on each arm? They were then sent to the Mayo clinic because the hospital Gracie was in is not CF certified.

I did mention to her about requesting the enzymes for Gracie until the results are back. Our conversation was cut short but she is interested in knowing all the info. She doesn't have internet so I'm doing the research for her.

Thanks
Gracie's Aunt
 
G

GracieMae

New member
I just got off the phone with my sister and Gracie has been sent home until the test results come back. Her blood work came back normal other than a slightly elevated WBC count.

She did say that they did 2 sweat tests one on each arm. Or is that how they do the sweat test? One on each arm? They were then sent to the Mayo clinic because the hospital Gracie was in is not CF certified.

I did mention to her about requesting the enzymes for Gracie until the results are back. Our conversation was cut short but she is interested in knowing all the info. She doesn't have internet so I'm doing the research for her.

Thanks
Gracie's Aunt
 
G

GracieMae

New member
I just got off the phone with my sister and Gracie has been sent home until the test results come back. Her blood work came back normal other than a slightly elevated WBC count.

She did say that they did 2 sweat tests one on each arm. Or is that how they do the sweat test? One on each arm? They were then sent to the Mayo clinic because the hospital Gracie was in is not CF certified.

I did mention to her about requesting the enzymes for Gracie until the results are back. Our conversation was cut short but she is interested in knowing all the info. She doesn't have internet so I'm doing the research for her.

Thanks
Gracie's Aunt
 
G

GracieMae

New member
I just got off the phone with my sister and Gracie has been sent home until the test results come back. Her blood work came back normal other than a slightly elevated WBC count.

She did say that they did 2 sweat tests one on each arm. Or is that how they do the sweat test? One on each arm? They were then sent to the Mayo clinic because the hospital Gracie was in is not CF certified.

I did mention to her about requesting the enzymes for Gracie until the results are back. Our conversation was cut short but she is interested in knowing all the info. She doesn't have internet so I'm doing the research for her.

Thanks
Gracie's Aunt
 
G

GracieMae

New member
I just got off the phone with my sister and Gracie has been sent home until the test results come back. Her blood work came back normal other than a slightly elevated WBC count.
<br />
<br />She did say that they did 2 sweat tests one on each arm. Or is that how they do the sweat test? One on each arm? They were then sent to the Mayo clinic because the hospital Gracie was in is not CF certified.
<br />
<br />I did mention to her about requesting the enzymes for Gracie until the results are back. Our conversation was cut short but she is interested in knowing all the info. She doesn't have internet so I'm doing the research for her.
<br />
<br />Thanks
<br />Gracie's Aunt
 
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