IS IT CF?

momofemilykay · Jul 5, 2008

My daughter Emily was four when she was diagnosed. I had always questioned symptoms of CF but did not know what I was questioning. She pooped so much as a baby we nicknamed her "Poopykins". When I asked the pediatrician, explaining her two brothers were not like this, they dismissed me and said every baby is different. She also had been diagnosed with chronic bronchitis. One of the main problems with this whole scenario was that everytime she was sick and I took her in for a sick appointment she had to see whoever was doing the rotation for sick calls that day. Since she saw several different doctors over time, no one ever connected the dots with her symptoms. Finally, after feeling ignored I changed doctors, actually took her to a PA and almost immediately he ordered blood work which showed that her vitamin E was nearly completely depleated, which is very difficult to happen. When this happened he ordered the sweat test, and the rest is history. Emily always stayed just above the radar with her weight from birth, so I think that is one of the reasons we were ignored a lot.

momofemilykay · Jul 5, 2008

My daughter Emily was four when she was diagnosed. I had always questioned symptoms of CF but did not know what I was questioning. She pooped so much as a baby we nicknamed her "Poopykins". When I asked the pediatrician, explaining her two brothers were not like this, they dismissed me and said every baby is different. She also had been diagnosed with chronic bronchitis. One of the main problems with this whole scenario was that everytime she was sick and I took her in for a sick appointment she had to see whoever was doing the rotation for sick calls that day. Since she saw several different doctors over time, no one ever connected the dots with her symptoms. Finally, after feeling ignored I changed doctors, actually took her to a PA and almost immediately he ordered blood work which showed that her vitamin E was nearly completely depleated, which is very difficult to happen. When this happened he ordered the sweat test, and the rest is history. Emily always stayed just above the radar with her weight from birth, so I think that is one of the reasons we were ignored a lot.

momofemilykay · Jul 5, 2008

My daughter Emily was four when she was diagnosed. I had always questioned symptoms of CF but did not know what I was questioning. She pooped so much as a baby we nicknamed her "Poopykins". When I asked the pediatrician, explaining her two brothers were not like this, they dismissed me and said every baby is different. She also had been diagnosed with chronic bronchitis. One of the main problems with this whole scenario was that everytime she was sick and I took her in for a sick appointment she had to see whoever was doing the rotation for sick calls that day. Since she saw several different doctors over time, no one ever connected the dots with her symptoms. Finally, after feeling ignored I changed doctors, actually took her to a PA and almost immediately he ordered blood work which showed that her vitamin E was nearly completely depleated, which is very difficult to happen. When this happened he ordered the sweat test, and the rest is history. Emily always stayed just above the radar with her weight from birth, so I think that is one of the reasons we were ignored a lot.

momofemilykay · Jul 5, 2008

My daughter Emily was four when she was diagnosed. I had always questioned symptoms of CF but did not know what I was questioning. She pooped so much as a baby we nicknamed her "Poopykins". When I asked the pediatrician, explaining her two brothers were not like this, they dismissed me and said every baby is different. She also had been diagnosed with chronic bronchitis. One of the main problems with this whole scenario was that everytime she was sick and I took her in for a sick appointment she had to see whoever was doing the rotation for sick calls that day. Since she saw several different doctors over time, no one ever connected the dots with her symptoms. Finally, after feeling ignored I changed doctors, actually took her to a PA and almost immediately he ordered blood work which showed that her vitamin E was nearly completely depleated, which is very difficult to happen. When this happened he ordered the sweat test, and the rest is history. Emily always stayed just above the radar with her weight from birth, so I think that is one of the reasons we were ignored a lot.

momofemilykay · Jul 5, 2008

My daughter Emily was four when she was diagnosed. I had always questioned symptoms of CF but did not know what I was questioning. She pooped so much as a baby we nicknamed her "Poopykins". When I asked the pediatrician, explaining her two brothers were not like this, they dismissed me and said every baby is different. She also had been diagnosed with chronic bronchitis. One of the main problems with this whole scenario was that everytime she was sick and I took her in for a sick appointment she had to see whoever was doing the rotation for sick calls that day. Since she saw several different doctors over time, no one ever connected the dots with her symptoms. Finally, after feeling ignored I changed doctors, actually took her to a PA and almost immediately he ordered blood work which showed that her vitamin E was nearly completely depleated, which is very difficult to happen. When this happened he ordered the sweat test, and the rest is history. Emily always stayed just above the radar with her weight from birth, so I think that is one of the reasons we were ignored a lot.

ktsmom · Jul 5, 2008

I've been reminded by a recent post in the Newly Diagnosed section that as a group we might seem a little pushy towards getting full genetic testing.

Having said that, IMHO your son's case indicates further testing could be warranted. Your pediatrician sounds like our former one. Our daughter was finally diagnosed at age 3 solely due to digestive issues.

Sure, she was gaining some weight, but plotting her progress against the growth charts showed she was clearly falling off them. She had greasy stools (orange staining on her diaper; later when she was potty trained orange oil floating in the toilet. Sorry if TMI). She had debilitating stomach aches. Only when we insisted with our ped that something was wrong did he call to set up a gastro appointment. Guess what? The gastro said to get her sweat-tested to "rule out CF".

Has your son really only gained 2 pounds in 9 months? And there has been no direct testing of him, even with a family history and some GI symptoms? Why can't they draw blood from a toddler at a pediatrician's office? Do they not have the expertise, or are they blowing you off? What were they intending to test for?

I truly hope you get the answers you need so that your son can feel better and thrive.

As far as testing you or your husband, if your husband's nephew is double delta F508, then for about $100 you can have your husband tested through Ambry (ask to test for the specific mutation DF508) and his doctor can order it. Go to <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx">AMBRY</a>for more information. Download the test requisition form and instructions, have your husband take it to his doc. You should get results in about a week after submitting the blood sample.

If it turns out your husband is a carrier, you'll have that much more information to guide you. Good luck.

ktsmom · Jul 5, 2008

I've been reminded by a recent post in the Newly Diagnosed section that as a group we might seem a little pushy towards getting full genetic testing.

Having said that, IMHO your son's case indicates further testing could be warranted. Your pediatrician sounds like our former one. Our daughter was finally diagnosed at age 3 solely due to digestive issues.

Sure, she was gaining some weight, but plotting her progress against the growth charts showed she was clearly falling off them. She had greasy stools (orange staining on her diaper; later when she was potty trained orange oil floating in the toilet. Sorry if TMI). She had debilitating stomach aches. Only when we insisted with our ped that something was wrong did he call to set up a gastro appointment. Guess what? The gastro said to get her sweat-tested to "rule out CF".

Has your son really only gained 2 pounds in 9 months? And there has been no direct testing of him, even with a family history and some GI symptoms? Why can't they draw blood from a toddler at a pediatrician's office? Do they not have the expertise, or are they blowing you off? What were they intending to test for?

I truly hope you get the answers you need so that your son can feel better and thrive.

As far as testing you or your husband, if your husband's nephew is double delta F508, then for about $100 you can have your husband tested through Ambry (ask to test for the specific mutation DF508) and his doctor can order it. Go to <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx">AMBRY</a>for more information. Download the test requisition form and instructions, have your husband take it to his doc. You should get results in about a week after submitting the blood sample.

If it turns out your husband is a carrier, you'll have that much more information to guide you. Good luck.

ktsmom · Jul 5, 2008

I've been reminded by a recent post in the Newly Diagnosed section that as a group we might seem a little pushy towards getting full genetic testing.

Having said that, IMHO your son's case indicates further testing could be warranted. Your pediatrician sounds like our former one. Our daughter was finally diagnosed at age 3 solely due to digestive issues.

Sure, she was gaining some weight, but plotting her progress against the growth charts showed she was clearly falling off them. She had greasy stools (orange staining on her diaper; later when she was potty trained orange oil floating in the toilet. Sorry if TMI). She had debilitating stomach aches. Only when we insisted with our ped that something was wrong did he call to set up a gastro appointment. Guess what? The gastro said to get her sweat-tested to "rule out CF".

Has your son really only gained 2 pounds in 9 months? And there has been no direct testing of him, even with a family history and some GI symptoms? Why can't they draw blood from a toddler at a pediatrician's office? Do they not have the expertise, or are they blowing you off? What were they intending to test for?

I truly hope you get the answers you need so that your son can feel better and thrive.

As far as testing you or your husband, if your husband's nephew is double delta F508, then for about $100 you can have your husband tested through Ambry (ask to test for the specific mutation DF508) and his doctor can order it. Go to <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx">AMBRY</a>for more information. Download the test requisition form and instructions, have your husband take it to his doc. You should get results in about a week after submitting the blood sample.

If it turns out your husband is a carrier, you'll have that much more information to guide you. Good luck.

ktsmom · Jul 5, 2008

I've been reminded by a recent post in the Newly Diagnosed section that as a group we might seem a little pushy towards getting full genetic testing.

Having said that, IMHO your son's case indicates further testing could be warranted. Your pediatrician sounds like our former one. Our daughter was finally diagnosed at age 3 solely due to digestive issues.

Sure, she was gaining some weight, but plotting her progress against the growth charts showed she was clearly falling off them. She had greasy stools (orange staining on her diaper; later when she was potty trained orange oil floating in the toilet. Sorry if TMI). She had debilitating stomach aches. Only when we insisted with our ped that something was wrong did he call to set up a gastro appointment. Guess what? The gastro said to get her sweat-tested to "rule out CF".

Has your son really only gained 2 pounds in 9 months? And there has been no direct testing of him, even with a family history and some GI symptoms? Why can't they draw blood from a toddler at a pediatrician's office? Do they not have the expertise, or are they blowing you off? What were they intending to test for?

I truly hope you get the answers you need so that your son can feel better and thrive.

As far as testing you or your husband, if your husband's nephew is double delta F508, then for about $100 you can have your husband tested through Ambry (ask to test for the specific mutation DF508) and his doctor can order it. Go to <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx">AMBRY</a>for more information. Download the test requisition form and instructions, have your husband take it to his doc. You should get results in about a week after submitting the blood sample.

If it turns out your husband is a carrier, you'll have that much more information to guide you. Good luck.

ktsmom · Jul 5, 2008

I've been reminded by a recent post in the Newly Diagnosed section that as a group we might seem a little pushy towards getting full genetic testing.
 
 Having said that, IMHO your son's case indicates further testing could be warranted. Your pediatrician sounds like our former one. Our daughter was finally diagnosed at age 3 solely due to digestive issues.
 
 Sure, she was gaining some weight, but plotting her progress against the growth charts showed she was clearly falling off them. She had greasy stools (orange staining on her diaper; later when she was potty trained orange oil floating in the toilet. Sorry if TMI). She had debilitating stomach aches. Only when we insisted with our ped that something was wrong did he call to set up a gastro appointment. Guess what? The gastro said to get her sweat-tested to "rule out CF".
 
 Has your son really only gained 2 pounds in 9 months? And there has been no direct testing of him, even with a family history and some GI symptoms? Why can't they draw blood from a toddler at a pediatrician's office? Do they not have the expertise, or are they blowing you off? What were they intending to test for?
 
 I truly hope you get the answers you need so that your son can feel better and thrive.
 
 As far as testing you or your husband, if your husband's nephew is double delta F508, then for about $100 you can have your husband tested through Ambry (ask to test for the specific mutation DF508) and his doctor can order it. Go to <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx">AMBRY</a>for more information. Download the test requisition form and instructions, have your husband take it to his doc. You should get results in about a week after submitting the blood sample.
 
 If it turns out your husband is a carrier, you'll have that much more information to guide you. Good luck.

Happy1 · Jul 7, 2008

Thanks again for all the information everyone keeps giving. It gives me the push to continue trying.

We saw the ENT who put his tubes in which also performs allergy testing through blood work only. They again tried to draw blood and were unsuccessful. Another 2 and a half hour doctor visit with no answers.

They say his veins are so small and he may not be hydrated enough. I'm sure just excuses for incompetent lab techs.
Not that I could do any better job but it is getting ridiculous.
The ped office was trying to get blood work for a SED rate and Q12 I think.?????

Contacted the Gastro doctors office myself on Thursday and they said the earliest we could get in was Sept. Also made an appt. with an allergist/immunologist for Tuesday.
He has become ill in the last few days with thick green mucus from his nose and yellow drainage from his eyes but no significant cough.

Just wanted to keep updating to see if anyone has any suggestions.
Thanks, Tiffani

Happy1 · Jul 7, 2008

Thanks again for all the information everyone keeps giving. It gives me the push to continue trying.

We saw the ENT who put his tubes in which also performs allergy testing through blood work only. They again tried to draw blood and were unsuccessful. Another 2 and a half hour doctor visit with no answers.

They say his veins are so small and he may not be hydrated enough. I'm sure just excuses for incompetent lab techs.
Not that I could do any better job but it is getting ridiculous.
The ped office was trying to get blood work for a SED rate and Q12 I think.?????

Contacted the Gastro doctors office myself on Thursday and they said the earliest we could get in was Sept. Also made an appt. with an allergist/immunologist for Tuesday.
He has become ill in the last few days with thick green mucus from his nose and yellow drainage from his eyes but no significant cough.

Just wanted to keep updating to see if anyone has any suggestions.
Thanks, Tiffani

Happy1 · Jul 7, 2008

Thanks again for all the information everyone keeps giving. It gives me the push to continue trying.

We saw the ENT who put his tubes in which also performs allergy testing through blood work only. They again tried to draw blood and were unsuccessful. Another 2 and a half hour doctor visit with no answers.

They say his veins are so small and he may not be hydrated enough. I'm sure just excuses for incompetent lab techs.
Not that I could do any better job but it is getting ridiculous.
The ped office was trying to get blood work for a SED rate and Q12 I think.?????

Contacted the Gastro doctors office myself on Thursday and they said the earliest we could get in was Sept. Also made an appt. with an allergist/immunologist for Tuesday.
He has become ill in the last few days with thick green mucus from his nose and yellow drainage from his eyes but no significant cough.

Just wanted to keep updating to see if anyone has any suggestions.
Thanks, Tiffani

Happy1 · Jul 7, 2008

Thanks again for all the information everyone keeps giving. It gives me the push to continue trying.

We saw the ENT who put his tubes in which also performs allergy testing through blood work only. They again tried to draw blood and were unsuccessful. Another 2 and a half hour doctor visit with no answers.

They say his veins are so small and he may not be hydrated enough. I'm sure just excuses for incompetent lab techs.
Not that I could do any better job but it is getting ridiculous.
The ped office was trying to get blood work for a SED rate and Q12 I think.?????

Contacted the Gastro doctors office myself on Thursday and they said the earliest we could get in was Sept. Also made an appt. with an allergist/immunologist for Tuesday.
He has become ill in the last few days with thick green mucus from his nose and yellow drainage from his eyes but no significant cough.

Just wanted to keep updating to see if anyone has any suggestions.
Thanks, Tiffani

Happy1 · Jul 7, 2008

Thanks again for all the information everyone keeps giving. It gives me the push to continue trying.
 
 We saw the ENT who put his tubes in which also performs allergy testing through blood work only. They again tried to draw blood and were unsuccessful. Another 2 and a half hour doctor visit with no answers.
 
 They say his veins are so small and he may not be hydrated enough. I'm sure just excuses for incompetent lab techs.
 Not that I could do any better job but it is getting ridiculous.
 The ped office was trying to get blood work for a SED rate and Q12 I think.?????
 
 Contacted the Gastro doctors office myself on Thursday and they said the earliest we could get in was Sept. Also made an appt. with an allergist/immunologist for Tuesday.
 He has become ill in the last few days with thick green mucus from his nose and yellow drainage from his eyes but no significant cough.
 
 Just wanted to keep updating to see if anyone has any suggestions.
 Thanks, Tiffani

StevenKeiles · Jul 7, 2008

Tiffani,

I just wanted to let you know that we are able to do DNA testing for CF from blood spots (which should be pretty easy to obtain - heelstick) and also from saliva.

You or your doctor can contact us for more information.

Steve

StevenKeiles · Jul 7, 2008

Tiffani,

I just wanted to let you know that we are able to do DNA testing for CF from blood spots (which should be pretty easy to obtain - heelstick) and also from saliva.

You or your doctor can contact us for more information.

Steve

StevenKeiles · Jul 7, 2008

Tiffani,

I just wanted to let you know that we are able to do DNA testing for CF from blood spots (which should be pretty easy to obtain - heelstick) and also from saliva.

You or your doctor can contact us for more information.

Steve

StevenKeiles · Jul 7, 2008

Tiffani,

I just wanted to let you know that we are able to do DNA testing for CF from blood spots (which should be pretty easy to obtain - heelstick) and also from saliva.

You or your doctor can contact us for more information.

Steve

StevenKeiles · Jul 7, 2008

Tiffani,
 
 I just wanted to let you know that we are able to do DNA testing for CF from blood spots (which should be pretty easy to obtain - heelstick) and also from saliva.
 
 You or your doctor can contact us for more information.
 
 Steve

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