help

N

needanswers

New member
The problem is that the endo refered us to the GI, then he was certain it was celiac disease we did an intestinal biopsy which came back negative then he refered us to the geneticist which in turn sent us back to the endo. I can't get back in to see the endo until May 2nd so I tried to get a second opinion and they can't get me in until April 24.
Are there any people out there with CF that don't have a family history.
 
R

Ratatosk

Administrator
Staff member
No family history here. I checked extensively when DS was diagnosed at birth. Both sides of the family, going back hundreds of years.

Any doctor can order a test. It's recommended that sweat tests be done at accreditted CF facilities. Genetic blood tests -- sample can be taken at the local clinic and sent to a testing facility. DS's were ordered by the neonatologist shortly after he was born. Got the results back in less than a week.
 
R

Ratatosk

Administrator
Staff member
No family history here. I checked extensively when DS was diagnosed at birth. Both sides of the family, going back hundreds of years.

Any doctor can order a test. It's recommended that sweat tests be done at accreditted CF facilities. Genetic blood tests -- sample can be taken at the local clinic and sent to a testing facility. DS's were ordered by the neonatologist shortly after he was born. Got the results back in less than a week.
 
R

Ratatosk

Administrator
Staff member
No family history here. I checked extensively when DS was diagnosed at birth. Both sides of the family, going back hundreds of years.

Any doctor can order a test. It's recommended that sweat tests be done at accreditted CF facilities. Genetic blood tests -- sample can be taken at the local clinic and sent to a testing facility. DS's were ordered by the neonatologist shortly after he was born. Got the results back in less than a week.
 
N

needanswers

New member
my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?
 
N

needanswers

New member
my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?
 
N

needanswers

New member
my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>needanswers</b></i>

my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?</end quote></div>


I think the symptoms alone are classic of CF. As to your ?? about genetic testing being ordered without a sweat test.....I think its the insurance companies that push the sweat test first since its cheaper. OFten that is the first step then the initial panel of genetic testing and then the extended panel if needed. Some luck out and can go straight for genetic, but I think its the exception.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>needanswers</b></i>

my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?</end quote></div>


I think the symptoms alone are classic of CF. As to your ?? about genetic testing being ordered without a sweat test.....I think its the insurance companies that push the sweat test first since its cheaper. OFten that is the first step then the initial panel of genetic testing and then the extended panel if needed. Some luck out and can go straight for genetic, but I think its the exception.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>needanswers</b></i>

my little girl has literally grown 1 inch and 1 pound in 8 months. At 17 mos she is way below 0% in ht and wt. We have seen 4 specialist ruled out celiac, turners, neuroblastoma. She has bouts of diarrhea and constipation, one bout of RSV one ear infection and a large abdomen, eat and drinks a ton. Does anyone have a similar story?</end quote></div>


I think the symptoms alone are classic of CF. As to your ?? about genetic testing being ordered without a sweat test.....I think its the insurance companies that push the sweat test first since its cheaper. OFten that is the first step then the initial panel of genetic testing and then the extended panel if needed. Some luck out and can go straight for genetic, but I think its the exception.
 
O

okok

New member
Are you by any chance of some ethnicity other than caucasion? I don't mean to sound weird but i just CANNOT understand how the doctors could do all of that testing but not preform a simple sweat test to rule out CF. They should have initially done that. The only reason i can imagine is if they think it is highly unlikely because of your ethnicity.
 
O

okok

New member
Are you by any chance of some ethnicity other than caucasion? I don't mean to sound weird but i just CANNOT understand how the doctors could do all of that testing but not preform a simple sweat test to rule out CF. They should have initially done that. The only reason i can imagine is if they think it is highly unlikely because of your ethnicity.
 
O

okok

New member
Are you by any chance of some ethnicity other than caucasion? I don't mean to sound weird but i just CANNOT understand how the doctors could do all of that testing but not preform a simple sweat test to rule out CF. They should have initially done that. The only reason i can imagine is if they think it is highly unlikely because of your ethnicity.
 
S

Samsmom

New member
No family history here. My daughter was diagnosed at 12 and weighed only 54 pounds. Keep pushing until you get answers.
 
S

Samsmom

New member
No family history here. My daughter was diagnosed at 12 and weighed only 54 pounds. Keep pushing until you get answers.
 
S

Samsmom

New member
No family history here. My daughter was diagnosed at 12 and weighed only 54 pounds. Keep pushing until you get answers.
 
M

marishka

New member
No family history here. It was the one thing we were all hanging onto in those horrible days between test and result. Abby has it, but we are dealing with it. Knowing is better than wondering. Insist they test her for it. The earlier the diagnosis, the better her chances of fighting the symptoms.
 
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