Any advice??

M

MommyJen

Guest
I have been peeking around this site for some time. What an informative place! You are all so wonderful at helping one another. What a blessing this site seems to be for all of you and for people like me trying to learn waht I can about CF.

I'm wondering if some of you would share some of your thoughts on my daughter's situation please? My daughter is 5 and has had a chronic cough for a little over 2 years now. Our pediatrician has always told us it was asthma. Having asthma myself, I questioned her as I have never heard my daughter wheeze and she said it was probably cough variant asthma. She has given her inhalers and Singulair over the years. Still nothing we had ever done had really seemed to make much of a difference, but I accepted her answer as my daughter's coughing just kind of became part of the norm. It never really got any better with treatment, but nor did it get any worse.

Well, that began to change this past fall. Her cough became more and more constant and she almost sounds like she's choking on her own mucus. Her cough is not a deep hacking cough, but more of a wet throaty cough. She is rarely able to cough anything up, though it's hard to tell if she is trying to or not. The few times that she has been able to it seems that it is so thick it causes her to begin vomitting too, which now has her scared that she will always vomit if she is able to get anything up far enough to spit it out.

I brought her in to the pediatrician "again" when she began to vomit from the coughing and because of the need for a same day appt. need to see someone other than our regular gal. This doc seemed a bit surprised that there was never a chest x-ray or really any kind of work up done at all for my daughter. She ordered quite abit and had found what she called inflammation on the chest x-ray and that she had a high WBC count. She did a mantoux, blood cultures, and a Pertussis at that time, all neg. in the end. She gave her Zithromax and said she wanted to see her again in 10 days if she wasn't better.

We brought her back in the 10 days and this time she found nasal polyps. She gave her some prednisolone for this. She also decided to have a sweat test done the following day at Mineapolis Children's with an order to draw a CF mutation if the sweat test was neg. or inconclusive. Her sweat test numbers wer 29 and 30 and the blood work was drawn. She also gave us a referral to a pulmonologist that day, which didn't have an opening until January.(This was early December)

The mutation came back negative, but by this time I had already discovered this site and had enough sense to ask whether they had done a small panel or if they had checked for all 1500 plus mutations. She didn't know the answer to that, she actually told me to follow up with our pulmonologist when we saw him. I did try to call Children's to ask and they told me it was a send out to Genzyme and when I called Genzyme they told me they could not give any information to anyone , but the ordering physician.

Well, January came and the pulmonologist said he didn't believe we were dealing with CF, but maybe another condition that mimics some of the symptoms of CF. He pointed out that my daughter didn't have any of the GI features of CF and that besides numerous ear infections until she had tubes placed and the chronic coough she was otherwise a pretty healthy kid. Okay...what a relief!!! He did the usual work up Pft's were 94% - there was some question of some fluid in one of her lower lobes on the ches x-ray, but ended up doing a chest st too which looked "pretty good" he said. She did have a sphenoid sinus infection and for that he put her on 3 weeks of Omniceff and told me to make an appt. in 4 weeks. This would also explain why she has been having fevers on and off now for a while.

Four weeks later my daughter sounds the same...same wet throaty cough. When we return he states that she had cultured staph on her sputum culture and decides to put her on Cipro and tells me to call in 1 wk if no change and we would schedule a Bronch. One week later no change...this is a Thursday and the bronch is now scheduled for Monday.

Monday comes and after the bronch he comes and tells us taht my daughters lungs were full of pockets of pus and mucus. He said he wasn't expecting to find what he did in her lungs. He begins telling me how her lungs looked like that of a child with cystic fibrosis and beginds askking how many times she has had pneumonia before. (never) I ask him again about whether it was ever looked into about what type of CF mutation testing had been done and he assures me he will find out and order an ambry test if it was a short panel done previously. He did admit her for IV antibiotics and said she would have the same treatments as kids with CF. He started her on the vest right away and iv steroids and 2 different antibiotics while we awaited culture results.

The next day he came in and said she was growing out pure pneumococcous. When asked about the CF mutaion he now again says he doesn't think were dealing with CF. The next day his partner comes in and says they found a great deal of lipids in her lungs too and decides she needs a video swallow to check for aspiration. That comes back okay. In the end we stayed a toal of days. CF was not looked into any further nor were the presence of the lipids in the lungs. He just doesn't know what's going on yet is all I really got from him in the end. She was sent home on a 2 week course of Ceftin, a prednisone taper, nasal sprays, and her normal pulmicort, albuterol and singullair. She also is to use the vest for 20 min 3-4 times a day. We are to see him in 3 weeks to discuss another bronch and possible ciliary biopsy and possible sinus drainage procedure at that time. We have been home now for 1 week and still the same throaty cough..the gasping for air...I just don't know what to do.

Does anyone think I should be pushing further for the answers to the CF mutation? Or do you think I should just be taking this at face value and go with what ever plan he has next? I'm just nor sure why we wouldn't completely rule one thing out before looking into the next. Any insight would be helpful. Thank you.
 
M

MommyJen

Guest
I have been peeking around this site for some time. What an informative place! You are all so wonderful at helping one another. What a blessing this site seems to be for all of you and for people like me trying to learn waht I can about CF.

I'm wondering if some of you would share some of your thoughts on my daughter's situation please? My daughter is 5 and has had a chronic cough for a little over 2 years now. Our pediatrician has always told us it was asthma. Having asthma myself, I questioned her as I have never heard my daughter wheeze and she said it was probably cough variant asthma. She has given her inhalers and Singulair over the years. Still nothing we had ever done had really seemed to make much of a difference, but I accepted her answer as my daughter's coughing just kind of became part of the norm. It never really got any better with treatment, but nor did it get any worse.

Well, that began to change this past fall. Her cough became more and more constant and she almost sounds like she's choking on her own mucus. Her cough is not a deep hacking cough, but more of a wet throaty cough. She is rarely able to cough anything up, though it's hard to tell if she is trying to or not. The few times that she has been able to it seems that it is so thick it causes her to begin vomitting too, which now has her scared that she will always vomit if she is able to get anything up far enough to spit it out.

I brought her in to the pediatrician "again" when she began to vomit from the coughing and because of the need for a same day appt. need to see someone other than our regular gal. This doc seemed a bit surprised that there was never a chest x-ray or really any kind of work up done at all for my daughter. She ordered quite abit and had found what she called inflammation on the chest x-ray and that she had a high WBC count. She did a mantoux, blood cultures, and a Pertussis at that time, all neg. in the end. She gave her Zithromax and said she wanted to see her again in 10 days if she wasn't better.

We brought her back in the 10 days and this time she found nasal polyps. She gave her some prednisolone for this. She also decided to have a sweat test done the following day at Mineapolis Children's with an order to draw a CF mutation if the sweat test was neg. or inconclusive. Her sweat test numbers wer 29 and 30 and the blood work was drawn. She also gave us a referral to a pulmonologist that day, which didn't have an opening until January.(This was early December)

The mutation came back negative, but by this time I had already discovered this site and had enough sense to ask whether they had done a small panel or if they had checked for all 1500 plus mutations. She didn't know the answer to that, she actually told me to follow up with our pulmonologist when we saw him. I did try to call Children's to ask and they told me it was a send out to Genzyme and when I called Genzyme they told me they could not give any information to anyone , but the ordering physician.

Well, January came and the pulmonologist said he didn't believe we were dealing with CF, but maybe another condition that mimics some of the symptoms of CF. He pointed out that my daughter didn't have any of the GI features of CF and that besides numerous ear infections until she had tubes placed and the chronic coough she was otherwise a pretty healthy kid. Okay...what a relief!!! He did the usual work up Pft's were 94% - there was some question of some fluid in one of her lower lobes on the ches x-ray, but ended up doing a chest st too which looked "pretty good" he said. She did have a sphenoid sinus infection and for that he put her on 3 weeks of Omniceff and told me to make an appt. in 4 weeks. This would also explain why she has been having fevers on and off now for a while.

Four weeks later my daughter sounds the same...same wet throaty cough. When we return he states that she had cultured staph on her sputum culture and decides to put her on Cipro and tells me to call in 1 wk if no change and we would schedule a Bronch. One week later no change...this is a Thursday and the bronch is now scheduled for Monday.

Monday comes and after the bronch he comes and tells us taht my daughters lungs were full of pockets of pus and mucus. He said he wasn't expecting to find what he did in her lungs. He begins telling me how her lungs looked like that of a child with cystic fibrosis and beginds askking how many times she has had pneumonia before. (never) I ask him again about whether it was ever looked into about what type of CF mutation testing had been done and he assures me he will find out and order an ambry test if it was a short panel done previously. He did admit her for IV antibiotics and said she would have the same treatments as kids with CF. He started her on the vest right away and iv steroids and 2 different antibiotics while we awaited culture results.

The next day he came in and said she was growing out pure pneumococcous. When asked about the CF mutaion he now again says he doesn't think were dealing with CF. The next day his partner comes in and says they found a great deal of lipids in her lungs too and decides she needs a video swallow to check for aspiration. That comes back okay. In the end we stayed a toal of days. CF was not looked into any further nor were the presence of the lipids in the lungs. He just doesn't know what's going on yet is all I really got from him in the end. She was sent home on a 2 week course of Ceftin, a prednisone taper, nasal sprays, and her normal pulmicort, albuterol and singullair. She also is to use the vest for 20 min 3-4 times a day. We are to see him in 3 weeks to discuss another bronch and possible ciliary biopsy and possible sinus drainage procedure at that time. We have been home now for 1 week and still the same throaty cough..the gasping for air...I just don't know what to do.

Does anyone think I should be pushing further for the answers to the CF mutation? Or do you think I should just be taking this at face value and go with what ever plan he has next? I'm just nor sure why we wouldn't completely rule one thing out before looking into the next. Any insight would be helpful. Thank you.
 
M

MommyJen

Guest
I have been peeking around this site for some time. What an informative place! You are all so wonderful at helping one another. What a blessing this site seems to be for all of you and for people like me trying to learn waht I can about CF.

I'm wondering if some of you would share some of your thoughts on my daughter's situation please? My daughter is 5 and has had a chronic cough for a little over 2 years now. Our pediatrician has always told us it was asthma. Having asthma myself, I questioned her as I have never heard my daughter wheeze and she said it was probably cough variant asthma. She has given her inhalers and Singulair over the years. Still nothing we had ever done had really seemed to make much of a difference, but I accepted her answer as my daughter's coughing just kind of became part of the norm. It never really got any better with treatment, but nor did it get any worse.

Well, that began to change this past fall. Her cough became more and more constant and she almost sounds like she's choking on her own mucus. Her cough is not a deep hacking cough, but more of a wet throaty cough. She is rarely able to cough anything up, though it's hard to tell if she is trying to or not. The few times that she has been able to it seems that it is so thick it causes her to begin vomitting too, which now has her scared that she will always vomit if she is able to get anything up far enough to spit it out.

I brought her in to the pediatrician "again" when she began to vomit from the coughing and because of the need for a same day appt. need to see someone other than our regular gal. This doc seemed a bit surprised that there was never a chest x-ray or really any kind of work up done at all for my daughter. She ordered quite abit and had found what she called inflammation on the chest x-ray and that she had a high WBC count. She did a mantoux, blood cultures, and a Pertussis at that time, all neg. in the end. She gave her Zithromax and said she wanted to see her again in 10 days if she wasn't better.

We brought her back in the 10 days and this time she found nasal polyps. She gave her some prednisolone for this. She also decided to have a sweat test done the following day at Mineapolis Children's with an order to draw a CF mutation if the sweat test was neg. or inconclusive. Her sweat test numbers wer 29 and 30 and the blood work was drawn. She also gave us a referral to a pulmonologist that day, which didn't have an opening until January.(This was early December)

The mutation came back negative, but by this time I had already discovered this site and had enough sense to ask whether they had done a small panel or if they had checked for all 1500 plus mutations. She didn't know the answer to that, she actually told me to follow up with our pulmonologist when we saw him. I did try to call Children's to ask and they told me it was a send out to Genzyme and when I called Genzyme they told me they could not give any information to anyone , but the ordering physician.

Well, January came and the pulmonologist said he didn't believe we were dealing with CF, but maybe another condition that mimics some of the symptoms of CF. He pointed out that my daughter didn't have any of the GI features of CF and that besides numerous ear infections until she had tubes placed and the chronic coough she was otherwise a pretty healthy kid. Okay...what a relief!!! He did the usual work up Pft's were 94% - there was some question of some fluid in one of her lower lobes on the ches x-ray, but ended up doing a chest st too which looked "pretty good" he said. She did have a sphenoid sinus infection and for that he put her on 3 weeks of Omniceff and told me to make an appt. in 4 weeks. This would also explain why she has been having fevers on and off now for a while.

Four weeks later my daughter sounds the same...same wet throaty cough. When we return he states that she had cultured staph on her sputum culture and decides to put her on Cipro and tells me to call in 1 wk if no change and we would schedule a Bronch. One week later no change...this is a Thursday and the bronch is now scheduled for Monday.

Monday comes and after the bronch he comes and tells us taht my daughters lungs were full of pockets of pus and mucus. He said he wasn't expecting to find what he did in her lungs. He begins telling me how her lungs looked like that of a child with cystic fibrosis and beginds askking how many times she has had pneumonia before. (never) I ask him again about whether it was ever looked into about what type of CF mutation testing had been done and he assures me he will find out and order an ambry test if it was a short panel done previously. He did admit her for IV antibiotics and said she would have the same treatments as kids with CF. He started her on the vest right away and iv steroids and 2 different antibiotics while we awaited culture results.

The next day he came in and said she was growing out pure pneumococcous. When asked about the CF mutaion he now again says he doesn't think were dealing with CF. The next day his partner comes in and says they found a great deal of lipids in her lungs too and decides she needs a video swallow to check for aspiration. That comes back okay. In the end we stayed a toal of days. CF was not looked into any further nor were the presence of the lipids in the lungs. He just doesn't know what's going on yet is all I really got from him in the end. She was sent home on a 2 week course of Ceftin, a prednisone taper, nasal sprays, and her normal pulmicort, albuterol and singullair. She also is to use the vest for 20 min 3-4 times a day. We are to see him in 3 weeks to discuss another bronch and possible ciliary biopsy and possible sinus drainage procedure at that time. We have been home now for 1 week and still the same throaty cough..the gasping for air...I just don't know what to do.

Does anyone think I should be pushing further for the answers to the CF mutation? Or do you think I should just be taking this at face value and go with what ever plan he has next? I'm just nor sure why we wouldn't completely rule one thing out before looking into the next. Any insight would be helpful. Thank you.
 
M

MommyJen

Guest
I have been peeking around this site for some time. What an informative place! You are all so wonderful at helping one another. What a blessing this site seems to be for all of you and for people like me trying to learn waht I can about CF.

I'm wondering if some of you would share some of your thoughts on my daughter's situation please? My daughter is 5 and has had a chronic cough for a little over 2 years now. Our pediatrician has always told us it was asthma. Having asthma myself, I questioned her as I have never heard my daughter wheeze and she said it was probably cough variant asthma. She has given her inhalers and Singulair over the years. Still nothing we had ever done had really seemed to make much of a difference, but I accepted her answer as my daughter's coughing just kind of became part of the norm. It never really got any better with treatment, but nor did it get any worse.

Well, that began to change this past fall. Her cough became more and more constant and she almost sounds like she's choking on her own mucus. Her cough is not a deep hacking cough, but more of a wet throaty cough. She is rarely able to cough anything up, though it's hard to tell if she is trying to or not. The few times that she has been able to it seems that it is so thick it causes her to begin vomitting too, which now has her scared that she will always vomit if she is able to get anything up far enough to spit it out.

I brought her in to the pediatrician "again" when she began to vomit from the coughing and because of the need for a same day appt. need to see someone other than our regular gal. This doc seemed a bit surprised that there was never a chest x-ray or really any kind of work up done at all for my daughter. She ordered quite abit and had found what she called inflammation on the chest x-ray and that she had a high WBC count. She did a mantoux, blood cultures, and a Pertussis at that time, all neg. in the end. She gave her Zithromax and said she wanted to see her again in 10 days if she wasn't better.

We brought her back in the 10 days and this time she found nasal polyps. She gave her some prednisolone for this. She also decided to have a sweat test done the following day at Mineapolis Children's with an order to draw a CF mutation if the sweat test was neg. or inconclusive. Her sweat test numbers wer 29 and 30 and the blood work was drawn. She also gave us a referral to a pulmonologist that day, which didn't have an opening until January.(This was early December)

The mutation came back negative, but by this time I had already discovered this site and had enough sense to ask whether they had done a small panel or if they had checked for all 1500 plus mutations. She didn't know the answer to that, she actually told me to follow up with our pulmonologist when we saw him. I did try to call Children's to ask and they told me it was a send out to Genzyme and when I called Genzyme they told me they could not give any information to anyone , but the ordering physician.

Well, January came and the pulmonologist said he didn't believe we were dealing with CF, but maybe another condition that mimics some of the symptoms of CF. He pointed out that my daughter didn't have any of the GI features of CF and that besides numerous ear infections until she had tubes placed and the chronic coough she was otherwise a pretty healthy kid. Okay...what a relief!!! He did the usual work up Pft's were 94% - there was some question of some fluid in one of her lower lobes on the ches x-ray, but ended up doing a chest st too which looked "pretty good" he said. She did have a sphenoid sinus infection and for that he put her on 3 weeks of Omniceff and told me to make an appt. in 4 weeks. This would also explain why she has been having fevers on and off now for a while.

Four weeks later my daughter sounds the same...same wet throaty cough. When we return he states that she had cultured staph on her sputum culture and decides to put her on Cipro and tells me to call in 1 wk if no change and we would schedule a Bronch. One week later no change...this is a Thursday and the bronch is now scheduled for Monday.

Monday comes and after the bronch he comes and tells us taht my daughters lungs were full of pockets of pus and mucus. He said he wasn't expecting to find what he did in her lungs. He begins telling me how her lungs looked like that of a child with cystic fibrosis and beginds askking how many times she has had pneumonia before. (never) I ask him again about whether it was ever looked into about what type of CF mutation testing had been done and he assures me he will find out and order an ambry test if it was a short panel done previously. He did admit her for IV antibiotics and said she would have the same treatments as kids with CF. He started her on the vest right away and iv steroids and 2 different antibiotics while we awaited culture results.

The next day he came in and said she was growing out pure pneumococcous. When asked about the CF mutaion he now again says he doesn't think were dealing with CF. The next day his partner comes in and says they found a great deal of lipids in her lungs too and decides she needs a video swallow to check for aspiration. That comes back okay. In the end we stayed a toal of days. CF was not looked into any further nor were the presence of the lipids in the lungs. He just doesn't know what's going on yet is all I really got from him in the end. She was sent home on a 2 week course of Ceftin, a prednisone taper, nasal sprays, and her normal pulmicort, albuterol and singullair. She also is to use the vest for 20 min 3-4 times a day. We are to see him in 3 weeks to discuss another bronch and possible ciliary biopsy and possible sinus drainage procedure at that time. We have been home now for 1 week and still the same throaty cough..the gasping for air...I just don't know what to do.

Does anyone think I should be pushing further for the answers to the CF mutation? Or do you think I should just be taking this at face value and go with what ever plan he has next? I'm just nor sure why we wouldn't completely rule one thing out before looking into the next. Any insight would be helpful. Thank you.
 
M

MommyJen

Guest
I have been peeking around this site for some time. What an informative place! You are all so wonderful at helping one another. What a blessing this site seems to be for all of you and for people like me trying to learn waht I can about CF.
<br />
<br />I'm wondering if some of you would share some of your thoughts on my daughter's situation please? My daughter is 5 and has had a chronic cough for a little over 2 years now. Our pediatrician has always told us it was asthma. Having asthma myself, I questioned her as I have never heard my daughter wheeze and she said it was probably cough variant asthma. She has given her inhalers and Singulair over the years. Still nothing we had ever done had really seemed to make much of a difference, but I accepted her answer as my daughter's coughing just kind of became part of the norm. It never really got any better with treatment, but nor did it get any worse.
<br />
<br />Well, that began to change this past fall. Her cough became more and more constant and she almost sounds like she's choking on her own mucus. Her cough is not a deep hacking cough, but more of a wet throaty cough. She is rarely able to cough anything up, though it's hard to tell if she is trying to or not. The few times that she has been able to it seems that it is so thick it causes her to begin vomitting too, which now has her scared that she will always vomit if she is able to get anything up far enough to spit it out.
<br />
<br />I brought her in to the pediatrician "again" when she began to vomit from the coughing and because of the need for a same day appt. need to see someone other than our regular gal. This doc seemed a bit surprised that there was never a chest x-ray or really any kind of work up done at all for my daughter. She ordered quite abit and had found what she called inflammation on the chest x-ray and that she had a high WBC count. She did a mantoux, blood cultures, and a Pertussis at that time, all neg. in the end. She gave her Zithromax and said she wanted to see her again in 10 days if she wasn't better.
<br />
<br />We brought her back in the 10 days and this time she found nasal polyps. She gave her some prednisolone for this. She also decided to have a sweat test done the following day at Mineapolis Children's with an order to draw a CF mutation if the sweat test was neg. or inconclusive. Her sweat test numbers wer 29 and 30 and the blood work was drawn. She also gave us a referral to a pulmonologist that day, which didn't have an opening until January.(This was early December)
<br />
<br />The mutation came back negative, but by this time I had already discovered this site and had enough sense to ask whether they had done a small panel or if they had checked for all 1500 plus mutations. She didn't know the answer to that, she actually told me to follow up with our pulmonologist when we saw him. I did try to call Children's to ask and they told me it was a send out to Genzyme and when I called Genzyme they told me they could not give any information to anyone , but the ordering physician.
<br />
<br />Well, January came and the pulmonologist said he didn't believe we were dealing with CF, but maybe another condition that mimics some of the symptoms of CF. He pointed out that my daughter didn't have any of the GI features of CF and that besides numerous ear infections until she had tubes placed and the chronic coough she was otherwise a pretty healthy kid. Okay...what a relief!!! He did the usual work up Pft's were 94% - there was some question of some fluid in one of her lower lobes on the ches x-ray, but ended up doing a chest st too which looked "pretty good" he said. She did have a sphenoid sinus infection and for that he put her on 3 weeks of Omniceff and told me to make an appt. in 4 weeks. This would also explain why she has been having fevers on and off now for a while.
<br />
<br />Four weeks later my daughter sounds the same...same wet throaty cough. When we return he states that she had cultured staph on her sputum culture and decides to put her on Cipro and tells me to call in 1 wk if no change and we would schedule a Bronch. One week later no change...this is a Thursday and the bronch is now scheduled for Monday.
<br />
<br />Monday comes and after the bronch he comes and tells us taht my daughters lungs were full of pockets of pus and mucus. He said he wasn't expecting to find what he did in her lungs. He begins telling me how her lungs looked like that of a child with cystic fibrosis and beginds askking how many times she has had pneumonia before. (never) I ask him again about whether it was ever looked into about what type of CF mutation testing had been done and he assures me he will find out and order an ambry test if it was a short panel done previously. He did admit her for IV antibiotics and said she would have the same treatments as kids with CF. He started her on the vest right away and iv steroids and 2 different antibiotics while we awaited culture results.
<br />
<br />The next day he came in and said she was growing out pure pneumococcous. When asked about the CF mutaion he now again says he doesn't think were dealing with CF. The next day his partner comes in and says they found a great deal of lipids in her lungs too and decides she needs a video swallow to check for aspiration. That comes back okay. In the end we stayed a toal of days. CF was not looked into any further nor were the presence of the lipids in the lungs. He just doesn't know what's going on yet is all I really got from him in the end. She was sent home on a 2 week course of Ceftin, a prednisone taper, nasal sprays, and her normal pulmicort, albuterol and singullair. She also is to use the vest for 20 min 3-4 times a day. We are to see him in 3 weeks to discuss another bronch and possible ciliary biopsy and possible sinus drainage procedure at that time. We have been home now for 1 week and still the same throaty cough..the gasping for air...I just don't know what to do.
<br />
<br />Does anyone think I should be pushing further for the answers to the CF mutation? Or do you think I should just be taking this at face value and go with what ever plan he has next? I'm just nor sure why we wouldn't completely rule one thing out before looking into the next. Any insight would be helpful. Thank you.
 

Rebjane

Super Moderator
As far as I know Genzyme does NOT test for the 1500 CF mutations; I could be wrong but when we were tested for the CF mutations; I think Genzyme did the 90 most common CF mutations, which my daughter has both. I would absolutely push for the full panel CF test. There is no reason not to have it done. I've used the line"well then we'll pay for it ourselves" and usually that does the trick for the doc to order it.

It sounds like your daughter, respiratory wise has gone through alot of things CF'ers do go through. What clinic are you going to? Is it a CF clinic? Perhaps others may respond and give you more insight but my two cents is to get the full panel CF genetic test on your daughter that test for the 1500 possible mutations. If your child does indeed have CF, it would also be wise to have the "official diagnosis" in terms of getting help financially for her treatments and programs set up for people with CF. Which is another reason you can give the doctor for wanting the Ambry test.
 

Rebjane

Super Moderator
As far as I know Genzyme does NOT test for the 1500 CF mutations; I could be wrong but when we were tested for the CF mutations; I think Genzyme did the 90 most common CF mutations, which my daughter has both. I would absolutely push for the full panel CF test. There is no reason not to have it done. I've used the line"well then we'll pay for it ourselves" and usually that does the trick for the doc to order it.

It sounds like your daughter, respiratory wise has gone through alot of things CF'ers do go through. What clinic are you going to? Is it a CF clinic? Perhaps others may respond and give you more insight but my two cents is to get the full panel CF genetic test on your daughter that test for the 1500 possible mutations. If your child does indeed have CF, it would also be wise to have the "official diagnosis" in terms of getting help financially for her treatments and programs set up for people with CF. Which is another reason you can give the doctor for wanting the Ambry test.
 

Rebjane

Super Moderator
As far as I know Genzyme does NOT test for the 1500 CF mutations; I could be wrong but when we were tested for the CF mutations; I think Genzyme did the 90 most common CF mutations, which my daughter has both. I would absolutely push for the full panel CF test. There is no reason not to have it done. I've used the line"well then we'll pay for it ourselves" and usually that does the trick for the doc to order it.

It sounds like your daughter, respiratory wise has gone through alot of things CF'ers do go through. What clinic are you going to? Is it a CF clinic? Perhaps others may respond and give you more insight but my two cents is to get the full panel CF genetic test on your daughter that test for the 1500 possible mutations. If your child does indeed have CF, it would also be wise to have the "official diagnosis" in terms of getting help financially for her treatments and programs set up for people with CF. Which is another reason you can give the doctor for wanting the Ambry test.
 

Rebjane

Super Moderator
As far as I know Genzyme does NOT test for the 1500 CF mutations; I could be wrong but when we were tested for the CF mutations; I think Genzyme did the 90 most common CF mutations, which my daughter has both. I would absolutely push for the full panel CF test. There is no reason not to have it done. I've used the line"well then we'll pay for it ourselves" and usually that does the trick for the doc to order it.

It sounds like your daughter, respiratory wise has gone through alot of things CF'ers do go through. What clinic are you going to? Is it a CF clinic? Perhaps others may respond and give you more insight but my two cents is to get the full panel CF genetic test on your daughter that test for the 1500 possible mutations. If your child does indeed have CF, it would also be wise to have the "official diagnosis" in terms of getting help financially for her treatments and programs set up for people with CF. Which is another reason you can give the doctor for wanting the Ambry test.
 

Rebjane

Super Moderator
As far as I know Genzyme does NOT test for the 1500 CF mutations; I could be wrong but when we were tested for the CF mutations; I think Genzyme did the 90 most common CF mutations, which my daughter has both. I would absolutely push for the full panel CF test. There is no reason not to have it done. I've used the line"well then we'll pay for it ourselves" and usually that does the trick for the doc to order it.

It sounds like your daughter, respiratory wise has gone through alot of things CF'ers do go through. What clinic are you going to? Is it a CF clinic? Perhaps others may respond and give you more insight but my two cents is to get the full panel CF genetic test on your daughter that test for the 1500 possible mutations. If your child does indeed have CF, it would also be wise to have the "official diagnosis" in terms of getting help financially for her treatments and programs set up for people with CF. Which is another reason you can give the doctor for wanting the Ambry test.
 

bittyhorse23

New member
I would say push for it! That is really all I can answer. PUSH PUSH PUSH and if it comes back negative, good! If not then you at least got an answer!

<img src="i/expressions/heart.gif" border="0">
 

bittyhorse23

New member
I would say push for it! That is really all I can answer. PUSH PUSH PUSH and if it comes back negative, good! If not then you at least got an answer!

<img src="i/expressions/heart.gif" border="0">
 

bittyhorse23

New member
I would say push for it! That is really all I can answer. PUSH PUSH PUSH and if it comes back negative, good! If not then you at least got an answer!

<img src="i/expressions/heart.gif" border="0">
 

bittyhorse23

New member
I would say push for it! That is really all I can answer. PUSH PUSH PUSH and if it comes back negative, good! If not then you at least got an answer!

<img src="i/expressions/heart.gif" border="0">
 

bittyhorse23

New member
I would say push for it! That is really all I can answer. PUSH PUSH PUSH and if it comes back negative, good! If not then you at least got an answer!
<br />
<br /><img src="i/expressions/heart.gif" border="0">
 

Alyssa

New member
I would continue to back this doctor into the corner on full Ambry testing.... he seems to be jerking you around a bit and I think you deserve better follow through than he is giving.

Another side comment for what ever doctor it was that told you it couldn't be CF because of the absence of GI problems is mistaken... approximately 20% of people with CF are pancreatic sufficient and do not present with any GI problems... my kids are two such people... also I'm highly suspicious of the sweat test numbers with the lung symptoms, as that is exactly what caused doctors to misdiagnose our daughter for 8 years.

Is the pulmo doc that you are seeing now a CF doc? If no I would highly recommend you switch her care to a CF certified clinic... they will be better equipped at making the correct diagnosis.

One thing this doctor did do right is to give her all the usual CF treatments... that's a plus.

Keep pushing to get a full Ambry test and also realize that even then you may still find only one gene or none.... it may still be in her best interest to be treated as if she has CF..... after they first broke the genetic code they started with 400 known genes, there are now 1561 and growing so that means over the years peoples genes were not identified at one point, but later were.

The good news is that she is not currently culturing any of the bad bugs.

Keep us posted.
 

Alyssa

New member
I would continue to back this doctor into the corner on full Ambry testing.... he seems to be jerking you around a bit and I think you deserve better follow through than he is giving.

Another side comment for what ever doctor it was that told you it couldn't be CF because of the absence of GI problems is mistaken... approximately 20% of people with CF are pancreatic sufficient and do not present with any GI problems... my kids are two such people... also I'm highly suspicious of the sweat test numbers with the lung symptoms, as that is exactly what caused doctors to misdiagnose our daughter for 8 years.

Is the pulmo doc that you are seeing now a CF doc? If no I would highly recommend you switch her care to a CF certified clinic... they will be better equipped at making the correct diagnosis.

One thing this doctor did do right is to give her all the usual CF treatments... that's a plus.

Keep pushing to get a full Ambry test and also realize that even then you may still find only one gene or none.... it may still be in her best interest to be treated as if she has CF..... after they first broke the genetic code they started with 400 known genes, there are now 1561 and growing so that means over the years peoples genes were not identified at one point, but later were.

The good news is that she is not currently culturing any of the bad bugs.

Keep us posted.
 

Alyssa

New member
I would continue to back this doctor into the corner on full Ambry testing.... he seems to be jerking you around a bit and I think you deserve better follow through than he is giving.

Another side comment for what ever doctor it was that told you it couldn't be CF because of the absence of GI problems is mistaken... approximately 20% of people with CF are pancreatic sufficient and do not present with any GI problems... my kids are two such people... also I'm highly suspicious of the sweat test numbers with the lung symptoms, as that is exactly what caused doctors to misdiagnose our daughter for 8 years.

Is the pulmo doc that you are seeing now a CF doc? If no I would highly recommend you switch her care to a CF certified clinic... they will be better equipped at making the correct diagnosis.

One thing this doctor did do right is to give her all the usual CF treatments... that's a plus.

Keep pushing to get a full Ambry test and also realize that even then you may still find only one gene or none.... it may still be in her best interest to be treated as if she has CF..... after they first broke the genetic code they started with 400 known genes, there are now 1561 and growing so that means over the years peoples genes were not identified at one point, but later were.

The good news is that she is not currently culturing any of the bad bugs.

Keep us posted.
 

Alyssa

New member
I would continue to back this doctor into the corner on full Ambry testing.... he seems to be jerking you around a bit and I think you deserve better follow through than he is giving.

Another side comment for what ever doctor it was that told you it couldn't be CF because of the absence of GI problems is mistaken... approximately 20% of people with CF are pancreatic sufficient and do not present with any GI problems... my kids are two such people... also I'm highly suspicious of the sweat test numbers with the lung symptoms, as that is exactly what caused doctors to misdiagnose our daughter for 8 years.

Is the pulmo doc that you are seeing now a CF doc? If no I would highly recommend you switch her care to a CF certified clinic... they will be better equipped at making the correct diagnosis.

One thing this doctor did do right is to give her all the usual CF treatments... that's a plus.

Keep pushing to get a full Ambry test and also realize that even then you may still find only one gene or none.... it may still be in her best interest to be treated as if she has CF..... after they first broke the genetic code they started with 400 known genes, there are now 1561 and growing so that means over the years peoples genes were not identified at one point, but later were.

The good news is that she is not currently culturing any of the bad bugs.

Keep us posted.
 

Alyssa

New member
I would continue to back this doctor into the corner on full Ambry testing.... he seems to be jerking you around a bit and I think you deserve better follow through than he is giving.
<br />
<br />Another side comment for what ever doctor it was that told you it couldn't be CF because of the absence of GI problems is mistaken... approximately 20% of people with CF are pancreatic sufficient and do not present with any GI problems... my kids are two such people... also I'm highly suspicious of the sweat test numbers with the lung symptoms, as that is exactly what caused doctors to misdiagnose our daughter for 8 years.
<br />
<br />Is the pulmo doc that you are seeing now a CF doc? If no I would highly recommend you switch her care to a CF certified clinic... they will be better equipped at making the correct diagnosis.
<br />
<br />One thing this doctor did do right is to give her all the usual CF treatments... that's a plus.
<br />
<br />Keep pushing to get a full Ambry test and also realize that even then you may still find only one gene or none.... it may still be in her best interest to be treated as if she has CF..... after they first broke the genetic code they started with 400 known genes, there are now 1561 and growing so that means over the years peoples genes were not identified at one point, but later were.
<br />
<br />The good news is that she is not currently culturing any of the bad bugs.
<br />
<br />Keep us posted.
 
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