Low sweat test but still concerned

[MaineNature]

The dr. told us my 4 mo old granddaughter's sweat test was 15 so she is dismissing CF. I'm still puzzled by the newborn screening flagging CF. I asked about what gene & Dr. said it wasn't a gene test? They did a retake which also flagged CF.

The reason I'm still concerned is that:

she has always had congestion. The dr. noticed some & that she's breathing really fast & kind of has to work at breathing & believes it's from the acid reflux so she prescribed a nebulizer with 2 meds/3x/day. She is already on 2 meds for the relux. I know small infants seem to "flail" but I wonder if her flailing is related to some of her issues.

She also noticed that she is stiff & ordered physical therapy.

I asked about the fact that her poops are dark green & greasy changing to bright yellow, switches between constipation & totally greasy all of which the Dr. says is normal? She is still on only formula that hasn't changed except rice cereal was added a month or so ago. She's consistenly in the 50th percentile for weight/height.

I sometimes feel like I'm just looking for trouble & I'm certainly glad if she doesn't have CF but I just want an accurate diagnosis because no one wants to give infants meds but if you have to you certainly want them to be the right meds. the proposed treatments might not be much different with or without the diagnosis my other concern is that Mom is pregnant again.

I would welcome any thoughts or suggestions,
Grammie Sue

 

[MaineNature]

The dr. told us my 4 mo old granddaughter's sweat test was 15 so she is dismissing CF. I'm still puzzled by the newborn screening flagging CF. I asked about what gene & Dr. said it wasn't a gene test? They did a retake which also flagged CF.

The reason I'm still concerned is that:

she has always had congestion. The dr. noticed some & that she's breathing really fast & kind of has to work at breathing & believes it's from the acid reflux so she prescribed a nebulizer with 2 meds/3x/day. She is already on 2 meds for the relux. I know small infants seem to "flail" but I wonder if her flailing is related to some of her issues.

She also noticed that she is stiff & ordered physical therapy.

I asked about the fact that her poops are dark green & greasy changing to bright yellow, switches between constipation & totally greasy all of which the Dr. says is normal? She is still on only formula that hasn't changed except rice cereal was added a month or so ago. She's consistenly in the 50th percentile for weight/height.

I sometimes feel like I'm just looking for trouble & I'm certainly glad if she doesn't have CF but I just want an accurate diagnosis because no one wants to give infants meds but if you have to you certainly want them to be the right meds. the proposed treatments might not be much different with or without the diagnosis my other concern is that Mom is pregnant again.

I would welcome any thoughts or suggestions,
Grammie Sue

 

[MaineNature]

The dr. told us my 4 mo old granddaughter's sweat test was 15 so she is dismissing CF. I'm still puzzled by the newborn screening flagging CF. I asked about what gene & Dr. said it wasn't a gene test? They did a retake which also flagged CF.

The reason I'm still concerned is that:

she has always had congestion. The dr. noticed some & that she's breathing really fast & kind of has to work at breathing & believes it's from the acid reflux so she prescribed a nebulizer with 2 meds/3x/day. She is already on 2 meds for the relux. I know small infants seem to "flail" but I wonder if her flailing is related to some of her issues.

She also noticed that she is stiff & ordered physical therapy.

I asked about the fact that her poops are dark green & greasy changing to bright yellow, switches between constipation & totally greasy all of which the Dr. says is normal? She is still on only formula that hasn't changed except rice cereal was added a month or so ago. She's consistenly in the 50th percentile for weight/height.

I sometimes feel like I'm just looking for trouble & I'm certainly glad if she doesn't have CF but I just want an accurate diagnosis because no one wants to give infants meds but if you have to you certainly want them to be the right meds. the proposed treatments might not be much different with or without the diagnosis my other concern is that Mom is pregnant again.

I would welcome any thoughts or suggestions,
Grammie Sue

 

[MaineNature]

The dr. told us my 4 mo old granddaughter's sweat test was 15 so she is dismissing CF. I'm still puzzled by the newborn screening flagging CF. I asked about what gene & Dr. said it wasn't a gene test? They did a retake which also flagged CF.

The reason I'm still concerned is that:

she has always had congestion. The dr. noticed some & that she's breathing really fast & kind of has to work at breathing & believes it's from the acid reflux so she prescribed a nebulizer with 2 meds/3x/day. She is already on 2 meds for the relux. I know small infants seem to "flail" but I wonder if her flailing is related to some of her issues.

She also noticed that she is stiff & ordered physical therapy.

I asked about the fact that her poops are dark green & greasy changing to bright yellow, switches between constipation & totally greasy all of which the Dr. says is normal? She is still on only formula that hasn't changed except rice cereal was added a month or so ago. She's consistenly in the 50th percentile for weight/height.

I sometimes feel like I'm just looking for trouble & I'm certainly glad if she doesn't have CF but I just want an accurate diagnosis because no one wants to give infants meds but if you have to you certainly want them to be the right meds. the proposed treatments might not be much different with or without the diagnosis my other concern is that Mom is pregnant again.

I would welcome any thoughts or suggestions,
Grammie Sue

 

[MaineNature]

The dr. told us my 4 mo old granddaughter's sweat test was 15 so she is dismissing CF. I'm still puzzled by the newborn screening flagging CF. I asked about what gene & Dr. said it wasn't a gene test? They did a retake which also flagged CF.
<br />
<br /> The reason I'm still concerned is that:
<br />
<br /> she has always had congestion. The dr. noticed some & that she's breathing really fast & kind of has to work at breathing & believes it's from the acid reflux so she prescribed a nebulizer with 2 meds/3x/day. She is already on 2 meds for the relux. I know small infants seem to "flail" but I wonder if her flailing is related to some of her issues.
<br />
<br />She also noticed that she is stiff & ordered physical therapy.
<br />
<br /> I asked about the fact that her poops are dark green & greasy changing to bright yellow, switches between constipation & totally greasy all of which the Dr. says is normal? She is still on only formula that hasn't changed except rice cereal was added a month or so ago. She's consistenly in the 50th percentile for weight/height.
<br />
<br />I sometimes feel like I'm just looking for trouble & I'm certainly glad if she doesn't have CF but I just want an accurate diagnosis because no one wants to give infants meds but if you have to you certainly want them to be the right meds. the proposed treatments might not be much different with or without the diagnosis my other concern is that Mom is pregnant again.
<br />
<br />I would welcome any thoughts or suggestions,
<br />Grammie Sue

 

[Ratatosk]

IMO, they should push for genetic blood testing. There are several people on this site who've had normal sweat test results. Based on the description of the stools -- sounds similar to what we dealt with when DS was a baby.

 

[Ratatosk]

IMO, they should push for genetic blood testing. There are several people on this site who've had normal sweat test results. Based on the description of the stools -- sounds similar to what we dealt with when DS was a baby.

 

[Ratatosk]

IMO, they should push for genetic blood testing. There are several people on this site who've had normal sweat test results. Based on the description of the stools -- sounds similar to what we dealt with when DS was a baby.

 

[Ratatosk]

IMO, they should push for genetic blood testing. There are several people on this site who've had normal sweat test results. Based on the description of the stools -- sounds similar to what we dealt with when DS was a baby.

 

[Ratatosk]

IMO, they should push for genetic blood testing. There are several people on this site who've had normal sweat test results. Based on the description of the stools -- sounds similar to what we dealt with when DS was a baby.

 

[JazzysMom]

All this discussion is with the baby's pediatrician?

Does the insurance for the baby allow her to go to other doctors without a referal?

IF SO I would contact the nearest CF Clinic directly & ask for a consultation.

Bring copies of her records of what they did so far & talk to them. Let them decide if they think its worth pursuing the genetic testing.

IMHO it should be done & chances eliminated more based on the symptoms. As its been said we have other members with low sweat test results where they find mutation. The sweat test is no longer the gold standard of CF testing like it use to be when thats all there was.

Here is the link to the CF Foundation Accredited Clinics:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">http://www.cysticfibrosis.com/cfcenters.cfm</a>

 

[JazzysMom]

All this discussion is with the baby's pediatrician?

Does the insurance for the baby allow her to go to other doctors without a referal?

IF SO I would contact the nearest CF Clinic directly & ask for a consultation.

Bring copies of her records of what they did so far & talk to them. Let them decide if they think its worth pursuing the genetic testing.

IMHO it should be done & chances eliminated more based on the symptoms. As its been said we have other members with low sweat test results where they find mutation. The sweat test is no longer the gold standard of CF testing like it use to be when thats all there was.

Here is the link to the CF Foundation Accredited Clinics:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">http://www.cysticfibrosis.com/cfcenters.cfm</a>

 

[JazzysMom]

All this discussion is with the baby's pediatrician?

Does the insurance for the baby allow her to go to other doctors without a referal?

IF SO I would contact the nearest CF Clinic directly & ask for a consultation.

Bring copies of her records of what they did so far & talk to them. Let them decide if they think its worth pursuing the genetic testing.

IMHO it should be done & chances eliminated more based on the symptoms. As its been said we have other members with low sweat test results where they find mutation. The sweat test is no longer the gold standard of CF testing like it use to be when thats all there was.

Here is the link to the CF Foundation Accredited Clinics:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">http://www.cysticfibrosis.com/cfcenters.cfm</a>

 

[JazzysMom]

All this discussion is with the baby's pediatrician?

Does the insurance for the baby allow her to go to other doctors without a referal?

IF SO I would contact the nearest CF Clinic directly & ask for a consultation.

Bring copies of her records of what they did so far & talk to them. Let them decide if they think its worth pursuing the genetic testing.

IMHO it should be done & chances eliminated more based on the symptoms. As its been said we have other members with low sweat test results where they find mutation. The sweat test is no longer the gold standard of CF testing like it use to be when thats all there was.

Here is the link to the CF Foundation Accredited Clinics:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">http://www.cysticfibrosis.com/cfcenters.cfm</a>

 

[JazzysMom]

All this discussion is with the baby's pediatrician?
<br />
<br />Does the insurance for the baby allow her to go to other doctors without a referal?
<br />
<br />IF SO I would contact the nearest CF Clinic directly & ask for a consultation.
<br />
<br />Bring copies of her records of what they did so far & talk to them. Let them decide if they think its worth pursuing the genetic testing.
<br />
<br />IMHO it should be done & chances eliminated more based on the symptoms. As its been said we have other members with low sweat test results where they find mutation. The sweat test is no longer the gold standard of CF testing like it use to be when thats all there was.
<br />
<br />Here is the link to the CF Foundation Accredited Clinics:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">http://www.cysticfibrosis.com/cfcenters.cfm</a>

 

[MaineNature]

Thanks for replying Liza, that's how I feel & I have read that about the sweat test. I asked if they got an adequate sample & the dr. "assumed" they did. I recently learned about those with Pancreatic Sufficiency. She has a ravenous appetite in spite of all her throwing up so so far she's maintaing an adequate weight. I haven't had time to investigate what other illnesses have all these similar symptoms.......

Parents are very young & financially destitute relying on Medicaid & I wonder if that has something to do with the genetic testing--cost. I was wondering too if Mom could have some genetic testing when she sees the obstetrician, as a starting point, at least to see if in fact she is a carrier.

 

[MaineNature]

Thanks for replying Liza, that's how I feel & I have read that about the sweat test. I asked if they got an adequate sample & the dr. "assumed" they did. I recently learned about those with Pancreatic Sufficiency. She has a ravenous appetite in spite of all her throwing up so so far she's maintaing an adequate weight. I haven't had time to investigate what other illnesses have all these similar symptoms.......

Parents are very young & financially destitute relying on Medicaid & I wonder if that has something to do with the genetic testing--cost. I was wondering too if Mom could have some genetic testing when she sees the obstetrician, as a starting point, at least to see if in fact she is a carrier.

 

[MaineNature]

Thanks for replying Liza, that's how I feel & I have read that about the sweat test. I asked if they got an adequate sample & the dr. "assumed" they did. I recently learned about those with Pancreatic Sufficiency. She has a ravenous appetite in spite of all her throwing up so so far she's maintaing an adequate weight. I haven't had time to investigate what other illnesses have all these similar symptoms.......

Parents are very young & financially destitute relying on Medicaid & I wonder if that has something to do with the genetic testing--cost. I was wondering too if Mom could have some genetic testing when she sees the obstetrician, as a starting point, at least to see if in fact she is a carrier.

 

[MaineNature]

Thanks for replying Liza, that's how I feel & I have read that about the sweat test. I asked if they got an adequate sample & the dr. "assumed" they did. I recently learned about those with Pancreatic Sufficiency. She has a ravenous appetite in spite of all her throwing up so so far she's maintaing an adequate weight. I haven't had time to investigate what other illnesses have all these similar symptoms.......

Parents are very young & financially destitute relying on Medicaid & I wonder if that has something to do with the genetic testing--cost. I was wondering too if Mom could have some genetic testing when she sees the obstetrician, as a starting point, at least to see if in fact she is a carrier.

 

[MaineNature]

Thanks for replying Liza, that's how I feel & I have read that about the sweat test. I asked if they got an adequate sample & the dr. "assumed" they did. I recently learned about those with Pancreatic Sufficiency. She has a ravenous appetite in spite of all her throwing up so so far she's maintaing an adequate weight. I haven't had time to investigate what other illnesses have all these similar symptoms.......
<br />
<br />Parents are very young & financially destitute relying on Medicaid & I wonder if that has something to do with the genetic testing--cost. I was wondering too if Mom could have some genetic testing when she sees the obstetrician, as a starting point, at least to see if in fact she is a carrier.