Diagnostic Help

[efd]

We don't know what to do about our ten month old son. He is small and well below where he should be on the growth chart. He's 15 pounds and 23 inches long. His sweat test is a 48, but his initial CF blood/genetic test (?) was negative. He recently recovered from pneumonia; he was literally within hours of being hopitalized but the dr. felt like he was just well enough to recover at home. He weezes, even when not sick, and his stools are bulky. Two blood tests for thyroid and other things were negative. The only red flag on a test with this baby is on the sweat test
We live in a rural area, and our doctor just seems to shrug his shoulders and hopes our son catches up. Our baby has six older siblings, all of whom don't have any CF sypmtoms as far as I can tell, but they have all been 80th percentile and above as infants (9 pounds and 21 inches at birth on avg.).
We have pushed the doctor here to get another sweat test for our baby. The doctor here thinks a 48 on the sweat test and a clear initial CF genetic scan means our baby's fine, but I'm not so sure. Does this sound familiar to anyone? If our son gets another bordline high sweat test score, do we push for the full genetic scan? Or is there something else we can do?
Thanks in advance.
Worried Father

 

[efd]

We don't know what to do about our ten month old son. He is small and well below where he should be on the growth chart. He's 15 pounds and 23 inches long. His sweat test is a 48, but his initial CF blood/genetic test (?) was negative. He recently recovered from pneumonia; he was literally within hours of being hopitalized but the dr. felt like he was just well enough to recover at home. He weezes, even when not sick, and his stools are bulky. Two blood tests for thyroid and other things were negative. The only red flag on a test with this baby is on the sweat test
We live in a rural area, and our doctor just seems to shrug his shoulders and hopes our son catches up. Our baby has six older siblings, all of whom don't have any CF sypmtoms as far as I can tell, but they have all been 80th percentile and above as infants (9 pounds and 21 inches at birth on avg.).
We have pushed the doctor here to get another sweat test for our baby. The doctor here thinks a 48 on the sweat test and a clear initial CF genetic scan means our baby's fine, but I'm not so sure. Does this sound familiar to anyone? If our son gets another bordline high sweat test score, do we push for the full genetic scan? Or is there something else we can do?
Thanks in advance.
Worried Father

 

[Anomie]

Call an accredited CF center and schedule an appointment for him to be seen there. He really needs to be on pancreatic enzymes if that will help him to thrive. Our daughter was misdiagnosed until the age of 4 until we finally brought her to see a specialist. She passed the initial blood test too. I would definitely push for the full genetic screening. They say not all people who fail a sweat test have CF but the other conditions that cause high results don't have any of the CF symptoms. If he failed a sweat test and has all the symptoms of CF I would say he most likely has it. Get a second opinion immediately and preferably from a CF specialist. Without those enzymes he will suffer mal-nourishment and not be able to fight infections like the pneumonia.

 

[Anomie]

Call an accredited CF center and schedule an appointment for him to be seen there. He really needs to be on pancreatic enzymes if that will help him to thrive. Our daughter was misdiagnosed until the age of 4 until we finally brought her to see a specialist. She passed the initial blood test too. I would definitely push for the full genetic screening. They say not all people who fail a sweat test have CF but the other conditions that cause high results don't have any of the CF symptoms. If he failed a sweat test and has all the symptoms of CF I would say he most likely has it. Get a second opinion immediately and preferably from a CF specialist. Without those enzymes he will suffer mal-nourishment and not be able to fight infections like the pneumonia.

 

[Ratatosk]

IMO, you need to get to an accredited CF facility. Most regular, family practice doctors are not familiar enough wcf. DS, who was born with a bowel obstruction due to meconium illeus, had a normal 32 on his sweat test. Genetic blood testing showed he did have c.

 

[Ratatosk]

IMO, you need to get to an accredited CF facility. Most regular, family practice doctors are not familiar enough wcf. DS, who was born with a bowel obstruction due to meconium illeus, had a normal 32 on his sweat test. Genetic blood testing showed he did have c.

 

[Printer]

The two posts above this one gave you the best advice in the world. DO WHAT THEY SAID. Puting this off can allow PERMANENT DAMAGE to occur to tour child.

Bill

 

[Printer]

The two posts above this one gave you the best advice in the world. DO WHAT THEY SAID. Puting this off can allow PERMANENT DAMAGE to occur to tour child.

Bill

 

[McBaby]

Just reading this because it sounds a bit similar to my infant. So it is possible to pass the screening and "pass" a sweat test and still have positive CF factors? Am I reading that right?

 

[McBaby]

Just reading this because it sounds a bit similar to my infant. So it is possible to pass the screening and "pass" a sweat test and still have positive CF factors? Am I reading that right?

 

[Calimom]

Yes, you are reading that right. My rural doctor also missed many of the signs, even when I was sure that my son had CF. He said I had an over-active imagination, though he'd known me to be perfectly calm with my older son. Your child may not have CF, but the only way to know for sure--and to start treatment quickly if he does have it--is to go to an accredited CF center and work with them there. They also will be able to steer you in a good direction if he does NOT have it, as they're familiar both with CF and with other problems that mimic some of the symptoms. Good luck. And if your son is diagnosed with CF, do not despair. It is a whole new world with the medications that are currently available, and if he is well taken care of, he will thrive.

 

[Calimom]

Yes, you are reading that right. My rural doctor also missed many of the signs, even when I was sure that my son had CF. He said I had an over-active imagination, though he'd known me to be perfectly calm with my older son. Your child may not have CF, but the only way to know for sure--and to start treatment quickly if he does have it--is to go to an accredited CF center and work with them there. They also will be able to steer you in a good direction if he does NOT have it, as they're familiar both with CF and with other problems that mimic some of the symptoms. Good luck. And if your son is diagnosed with CF, do not despair. It is a whole new world with the medications that are currently available, and if he is well taken care of, he will thrive.

 

[Anomie]

Ya and that recurrent pneumonia will quickly turn into bronchiectasis if you don't get him cleared out. Thats permanent hardening of the airways and it can be very painful.

 

[Anomie]

Ya and that recurrent pneumonia will quickly turn into bronchiectasis if you don't get him cleared out. Thats permanent hardening of the airways and it can be very painful.