Question for Beccamom

[Mistyjo]

Beccamon,

Thank you for responding to my posts. It sounds like our daughters are similar as far as genetics goes. From my understanding in another post you said your daughter has one disease causing mutation and then polylmorphism or variant. This is interesting to me. This is what my daughter has also. Which actually makes me think even more that my Mom probably had CF and was never diagnosed. Did your daughter have borderline sweat test? I read where she was negative for cf with the npd testing, correct? I'm assuming the same thing will happen with my daughter.
Any thoughts on this? I don't know anything about this so I was wondering can the polymorphism decrease the function any of the cftr gene? We know the other one doesn't work so the functioning will have to come from the one with the variant and polymorphism, right?

What are your thoughts?

 

[Mistyjo]

Beccamon,

Thank you for responding to my posts. It sounds like our daughters are similar as far as genetics goes. From my understanding in another post you said your daughter has one disease causing mutation and then polylmorphism or variant. This is interesting to me. This is what my daughter has also. Which actually makes me think even more that my Mom probably had CF and was never diagnosed. Did your daughter have borderline sweat test? I read where she was negative for cf with the npd testing, correct? I'm assuming the same thing will happen with my daughter.
Any thoughts on this? I don't know anything about this so I was wondering can the polymorphism decrease the function any of the cftr gene? We know the other one doesn't work so the functioning will have to come from the one with the variant and polymorphism, right?

What are your thoughts?

 

[Mistyjo]

Beccamon,

Thank you for responding to my posts. It sounds like our daughters are similar as far as genetics goes. From my understanding in another post you said your daughter has one disease causing mutation and then polylmorphism or variant. This is interesting to me. This is what my daughter has also. Which actually makes me think even more that my Mom probably had CF and was never diagnosed. Did your daughter have borderline sweat test? I read where she was negative for cf with the npd testing, correct? I'm assuming the same thing will happen with my daughter.
Any thoughts on this? I don't know anything about this so I was wondering can the polymorphism decrease the function any of the cftr gene? We know the other one doesn't work so the functioning will have to come from the one with the variant and polymorphism, right?

What are your thoughts?

 

[Beccamom]

From what I am told the polymorphisms are genetic mutations that are common in the general population and that is why although they are mutation of the gene they are not thought to be disease causing. I am not a medical professional. As far as the NPD it is used in research only at this time and where we got it done they are doing a study to determine if it should be used in the diagnostic process. I fealt that it was extremely subjective on the part of the testing administrator. While doing the test the numbers are constantly changing as the test administer moves the probe within the nose to chose the "best" location to tape it into. It was very dependent on the amount of swelling in the nose and so my daughter had one NPD that showed extremely decreased CFTR function and one that ruled out CF based on a score of 11% with 10% and lower cutoff being consistent with CF. I am very frustrated with the diagnostic process right now. My daughter was very sick from September through April. In April with the first NPD showing she had CF she was agressively treated inpatient with IV antibiotics and Chest Phyisical Therapy. About 1 week out of the hospital my daughter was back to a very intermittent cough for the first time in 8 months. She coughed non-stop from September to April. Now that CF was "ruled out" with the 2nd NPD the CF nurse won't return my phone calls to answer questions about the Chest PT. In the past 3 days she is back to coughing fits during chest PT. I know she is going back down hill and have absolutely no anwers as to what to do about it. The pulmonology fellow went so far as to E-mail me versus call me to discuss our next step. She even wrote she felt her lung problems were asthma (dx for the past 11 years). When I wrote back the 2 attending pulmonologists had already ruled out asthma as a main dx because she has absolutely no change in lung function after albuterol during the PFT test and has never had an asthma attack she did not or E-mail me back. So we sit and wait for my daughter to get sick enough to end up back in the hospital. In the meantime, our peditrician feels something is being missed and we are heaing to Reumatology. The pediatrician explained that Reumatologist consult as second opinion when no diagnosis can be found and more than 1 organ system is involved. I will update you after that appointment on June 16th. Best wishes to you as well.

 

[Beccamom]

From what I am told the polymorphisms are genetic mutations that are common in the general population and that is why although they are mutation of the gene they are not thought to be disease causing. I am not a medical professional. As far as the NPD it is used in research only at this time and where we got it done they are doing a study to determine if it should be used in the diagnostic process. I fealt that it was extremely subjective on the part of the testing administrator. While doing the test the numbers are constantly changing as the test administer moves the probe within the nose to chose the "best" location to tape it into. It was very dependent on the amount of swelling in the nose and so my daughter had one NPD that showed extremely decreased CFTR function and one that ruled out CF based on a score of 11% with 10% and lower cutoff being consistent with CF. I am very frustrated with the diagnostic process right now. My daughter was very sick from September through April. In April with the first NPD showing she had CF she was agressively treated inpatient with IV antibiotics and Chest Phyisical Therapy. About 1 week out of the hospital my daughter was back to a very intermittent cough for the first time in 8 months. She coughed non-stop from September to April. Now that CF was "ruled out" with the 2nd NPD the CF nurse won't return my phone calls to answer questions about the Chest PT. In the past 3 days she is back to coughing fits during chest PT. I know she is going back down hill and have absolutely no anwers as to what to do about it. The pulmonology fellow went so far as to E-mail me versus call me to discuss our next step. She even wrote she felt her lung problems were asthma (dx for the past 11 years). When I wrote back the 2 attending pulmonologists had already ruled out asthma as a main dx because she has absolutely no change in lung function after albuterol during the PFT test and has never had an asthma attack she did not or E-mail me back. So we sit and wait for my daughter to get sick enough to end up back in the hospital. In the meantime, our peditrician feels something is being missed and we are heaing to Reumatology. The pediatrician explained that Reumatologist consult as second opinion when no diagnosis can be found and more than 1 organ system is involved. I will update you after that appointment on June 16th. Best wishes to you as well.

 

[Beccamom]

From what I am told the polymorphisms are genetic mutations that are common in the general population and that is why although they are mutation of the gene they are not thought to be disease causing. I am not a medical professional. As far as the NPD it is used in research only at this time and where we got it done they are doing a study to determine if it should be used in the diagnostic process. I fealt that it was extremely subjective on the part of the testing administrator. While doing the test the numbers are constantly changing as the test administer moves the probe within the nose to chose the "best" location to tape it into. It was very dependent on the amount of swelling in the nose and so my daughter had one NPD that showed extremely decreased CFTR function and one that ruled out CF based on a score of 11% with 10% and lower cutoff being consistent with CF. I am very frustrated with the diagnostic process right now. My daughter was very sick from September through April. In April with the first NPD showing she had CF she was agressively treated inpatient with IV antibiotics and Chest Phyisical Therapy. About 1 week out of the hospital my daughter was back to a very intermittent cough for the first time in 8 months. She coughed non-stop from September to April. Now that CF was "ruled out" with the 2nd NPD the CF nurse won't return my phone calls to answer questions about the Chest PT. In the past 3 days she is back to coughing fits during chest PT. I know she is going back down hill and have absolutely no anwers as to what to do about it. The pulmonology fellow went so far as to E-mail me versus call me to discuss our next step. She even wrote she felt her lung problems were asthma (dx for the past 11 years). When I wrote back the 2 attending pulmonologists had already ruled out asthma as a main dx because she has absolutely no change in lung function after albuterol during the PFT test and has never had an asthma attack she did not or E-mail me back. So we sit and wait for my daughter to get sick enough to end up back in the hospital. In the meantime, our peditrician feels something is being missed and we are heaing to Reumatology. The pediatrician explained that Reumatologist consult as second opinion when no diagnosis can be found and more than 1 organ system is involved. I will update you after that appointment on June 16th. Best wishes to you as well.

 

[Beccamom]

You asked about my daughter's sweat test and they were done at age 1 and 4. Age 1 was determined to be invalid not done at a CF center and the CF center stated not enough sweat colleced that was less than 40. The second was intermediate number at a CF center, but was done 7 years ago. I was debating on asking for that one to be done again, but think since CF is officially ruled out the dr would not want to do it. Meanwhile, the pediatrician has a few new theories that may be helpful for you Alpha-1 antitripsin deficiency. This causes liver problems and that then damages the lungs. My daughter's initial liver numbers were all off, but also done while in the hospital so more bloodwork next week for liver numbers while she is "healthy". The pulmonologist also disucssed Primary Ciliary Dyskinesia, another mucus clearing disorder at our initial visit. He has since been at conferenes and so I have not been able to discuss this testing process with him yet. Meanwhile, I found out my sinuses are impacted and need sinus surgery. This disorder is also genetic and affects sinus and lungs so maybe that was a sign to pursue that direction. I hope I can help you in your dx process. Any feedback from your experience would be appreciated as well.

 

[Beccamom]

You asked about my daughter's sweat test and they were done at age 1 and 4. Age 1 was determined to be invalid not done at a CF center and the CF center stated not enough sweat colleced that was less than 40. The second was intermediate number at a CF center, but was done 7 years ago. I was debating on asking for that one to be done again, but think since CF is officially ruled out the dr would not want to do it. Meanwhile, the pediatrician has a few new theories that may be helpful for you Alpha-1 antitripsin deficiency. This causes liver problems and that then damages the lungs. My daughter's initial liver numbers were all off, but also done while in the hospital so more bloodwork next week for liver numbers while she is "healthy". The pulmonologist also disucssed Primary Ciliary Dyskinesia, another mucus clearing disorder at our initial visit. He has since been at conferenes and so I have not been able to discuss this testing process with him yet. Meanwhile, I found out my sinuses are impacted and need sinus surgery. This disorder is also genetic and affects sinus and lungs so maybe that was a sign to pursue that direction. I hope I can help you in your dx process. Any feedback from your experience would be appreciated as well.

 

[Beccamom]

You asked about my daughter's sweat test and they were done at age 1 and 4. Age 1 was determined to be invalid not done at a CF center and the CF center stated not enough sweat colleced that was less than 40. The second was intermediate number at a CF center, but was done 7 years ago. I was debating on asking for that one to be done again, but think since CF is officially ruled out the dr would not want to do it. Meanwhile, the pediatrician has a few new theories that may be helpful for you Alpha-1 antitripsin deficiency. This causes liver problems and that then damages the lungs. My daughter's initial liver numbers were all off, but also done while in the hospital so more bloodwork next week for liver numbers while she is "healthy". The pulmonologist also disucssed Primary Ciliary Dyskinesia, another mucus clearing disorder at our initial visit. He has since been at conferenes and so I have not been able to discuss this testing process with him yet. Meanwhile, I found out my sinuses are impacted and need sinus surgery. This disorder is also genetic and affects sinus and lungs so maybe that was a sign to pursue that direction. I hope I can help you in your dx process. Any feedback from your experience would be appreciated as well.

 

[Mistyjo]

Thanks for answering my questions. My daughter only had respiratory problems the first 2 yrs of her life since then her only respiratory problem is croup. When she gets it we know to head straight in to the hosp because she goes into stridor breathing with it. Really her only problems are chronic constipation and failure to thrive. When she was 3 she ran a fever for 11 days and her inflammatory markers were very high. She ended up in the hosp but only for one day. The first 2 years was constant upper respiratory infections, rsv, and bronchitis. She had several small watery stools a day and projectile vomitting several times a day and lots of choking. She had a scope at one year for all the choking and vomitting which did show she had layrngomalacia.
I hope you can get some answers soon!! I know what's its like to watch a loved one struggle with breathing and clearing their airway. My Mom had chronic pneumonia and pulmonary fibrosis it was really bad in the end. When my daughter gets croup it is very scarey!! She can't catch her breath and breathing is very labored. I have asthma myself. I wanted you to know that I didn't respond to the albuterol inhaler with my pfts either and yet my pulmonologist still said I have ashma. I've been soooo much better since he started me on advair. When I was a kid I had pneumonia, bronchitis, astmatic bronicits and i slept in steam tents often. I know when you are dealing with the lungs it is very hard to handle. I just hope my daugher doesn't start to have more respiratory problems. She is having surgery soon on her colon to remove part of it. I'm hoping this takes care of the chronic constipation and poor weight gain.
As far as searching for a diagnosis we have been to two bowel clinics and one of them we were there for a year. We had to go every 6 weeks d/t poor weight gain. The second bowel clinic we had to stay at a Ronald McDonald house for 10 days and she went to the hosp everyday for tests and x-rays. This is when we found out she has a very redundant colon meaning extra loops. We still don't really have an answer for the failure to thrive. Her teeth doesn't look right to me either. She has two holes and two chipped teeth and not from falling.
I know you have to have two cf gene mutations in order to have cf but it makes you wonder when your daughter is having so many pulmonary problems whether the one gene can cause some symptoms. I know it's not suppose to but how do they know that for sure? And how do they know for sure the polymorphism doesn't cause problems?
Make sure you keep my updated. I hope you get answers soon.

 

[Mistyjo]

Thanks for answering my questions. My daughter only had respiratory problems the first 2 yrs of her life since then her only respiratory problem is croup. When she gets it we know to head straight in to the hosp because she goes into stridor breathing with it. Really her only problems are chronic constipation and failure to thrive. When she was 3 she ran a fever for 11 days and her inflammatory markers were very high. She ended up in the hosp but only for one day. The first 2 years was constant upper respiratory infections, rsv, and bronchitis. She had several small watery stools a day and projectile vomitting several times a day and lots of choking. She had a scope at one year for all the choking and vomitting which did show she had layrngomalacia.
I hope you can get some answers soon!! I know what's its like to watch a loved one struggle with breathing and clearing their airway. My Mom had chronic pneumonia and pulmonary fibrosis it was really bad in the end. When my daughter gets croup it is very scarey!! She can't catch her breath and breathing is very labored. I have asthma myself. I wanted you to know that I didn't respond to the albuterol inhaler with my pfts either and yet my pulmonologist still said I have ashma. I've been soooo much better since he started me on advair. When I was a kid I had pneumonia, bronchitis, astmatic bronicits and i slept in steam tents often. I know when you are dealing with the lungs it is very hard to handle. I just hope my daugher doesn't start to have more respiratory problems. She is having surgery soon on her colon to remove part of it. I'm hoping this takes care of the chronic constipation and poor weight gain.
As far as searching for a diagnosis we have been to two bowel clinics and one of them we were there for a year. We had to go every 6 weeks d/t poor weight gain. The second bowel clinic we had to stay at a Ronald McDonald house for 10 days and she went to the hosp everyday for tests and x-rays. This is when we found out she has a very redundant colon meaning extra loops. We still don't really have an answer for the failure to thrive. Her teeth doesn't look right to me either. She has two holes and two chipped teeth and not from falling.
I know you have to have two cf gene mutations in order to have cf but it makes you wonder when your daughter is having so many pulmonary problems whether the one gene can cause some symptoms. I know it's not suppose to but how do they know that for sure? And how do they know for sure the polymorphism doesn't cause problems?
Make sure you keep my updated. I hope you get answers soon.

 

[Mistyjo]

Thanks for answering my questions. My daughter only had respiratory problems the first 2 yrs of her life since then her only respiratory problem is croup. When she gets it we know to head straight in to the hosp because she goes into stridor breathing with it. Really her only problems are chronic constipation and failure to thrive. When she was 3 she ran a fever for 11 days and her inflammatory markers were very high. She ended up in the hosp but only for one day. The first 2 years was constant upper respiratory infections, rsv, and bronchitis. She had several small watery stools a day and projectile vomitting several times a day and lots of choking. She had a scope at one year for all the choking and vomitting which did show she had layrngomalacia.
<br />I hope you can get some answers soon!! I know what's its like to watch a loved one struggle with breathing and clearing their airway. My Mom had chronic pneumonia and pulmonary fibrosis it was really bad in the end. When my daughter gets croup it is very scarey!! She can't catch her breath and breathing is very labored. I have asthma myself. I wanted you to know that I didn't respond to the albuterol inhaler with my pfts either and yet my pulmonologist still said I have ashma. I've been soooo much better since he started me on advair. When I was a kid I had pneumonia, bronchitis, astmatic bronicits and i slept in steam tents often. I know when you are dealing with the lungs it is very hard to handle. I just hope my daugher doesn't start to have more respiratory problems. She is having surgery soon on her colon to remove part of it. I'm hoping this takes care of the chronic constipation and poor weight gain.
<br />As far as searching for a diagnosis we have been to two bowel clinics and one of them we were there for a year. We had to go every 6 weeks d/t poor weight gain. The second bowel clinic we had to stay at a Ronald McDonald house for 10 days and she went to the hosp everyday for tests and x-rays. This is when we found out she has a very redundant colon meaning extra loops. We still don't really have an answer for the failure to thrive. Her teeth doesn't look right to me either. She has two holes and two chipped teeth and not from falling.
<br />I know you have to have two cf gene mutations in order to have cf but it makes you wonder when your daughter is having so many pulmonary problems whether the one gene can cause some symptoms. I know it's not suppose to but how do they know that for sure? And how do they know for sure the polymorphism doesn't cause problems?
<br />Make sure you keep my updated. I hope you get answers soon.

 

[Beccamom]

Thanks for sharing your story.  I feel like we are at a bit of a standstill with the FTT dx.  2 GIs and they don't have any answers.  Both basically say maybe she burns too many calories to breathe.  We are going for more GI bloodwork this week.  The GI ordered about 11 different tests and most seem to be liver function tests and a metabolic panel.  These tests are based on her numbers during her April hospital stay being off.  The GI wanted to repeat the tests 6 weeks after she was sick to see if they improved.  I will keep you posted about these results.  Another dx idea my pediatrician came up with was looking at what newborn screening tests my daughter had.  She was born in Texas and lived in 7 states ending here in NJ.  Her Drs are all from PA.  The pedicician thinks some things may have been overlooked like CF for so long because they would have been part of a newborn panel if she was born where we live today.  I don't know if you have moved, but I got the list from TX and my daughter was only screened for 7 things that cause a newborn to die in the first few days of life.  Had she been born where we live now it looks like she would have been screened for a couple dozen things.  I plan to bring this list to her next visit with each specialist to see if it gives them any new ideas about things that were not screaned out when she was born.

 

[Beccamom]

Thanks for sharing your story. I feel like we are at a bit of a standstill with the FTT dx. 2 GIs and they don't have any answers. Both basically say maybe she burns too many calories to breathe. We are going for more GI bloodwork this week. The GI ordered about 11 different tests and most seem to be liver function tests and a metabolic panel. These tests are based on her numbers during her April hospital stay being off. The GI wanted to repeat the tests 6 weeks after she was sick to see if they improved. I will keep you posted about these results. Another dx idea my pediatrician came up with was looking at what newborn screening tests my daughter had. She was born in Texas and lived in 7 states ending here in NJ. Her Drs are all from PA. The pedicician thinks some things may have been overlooked like CF for so long because they would have been part of a newborn panel if she was born where we live today. I don't know if you have moved, but I got the list from TX and my daughter was only screened for 7 things that cause a newborn to die in the first few days of life. Had she been born where we live now it looks like she would have been screened for a couple dozen things. I plan to bring this list to her next visit with each specialist to see if it gives them any new ideas about things that were not screaned out when she was born.

 

[Beccamom]

<p>Thanks for sharing your story. I feel like we are at a bit of a standstill with the FTT dx. 2 GIs and they don't have any answers. Both basically say maybe she burns too many calories to breathe. We are going for more GI bloodwork this week. The GI ordered about 11 different tests and most seem to be liver function tests and a metabolic panel. These tests are based on her numbers during her April hospital stay being off. The GI wanted to repeat the tests 6 weeks after she was sick to see if they improved. I will keep you posted about these results. Another dx idea my pediatrician came up with was looking at what newborn screening tests my daughter had. She was born in Texas and lived in 7 states ending here in NJ. Her Drs are all from PA. The pedicician thinks some things may have been overlooked like CF for so long because they would have been part of a newborn panel if she was born where we live today. I don't know if you have moved, but I got the list from TX and my daughter was only screened for 7 things that cause a newborn to die in the first few days of life. Had she been born where we live now it looks like she would have been screened for a couple dozen things. I plan to bring this list to her next visit with each specialist to see if it gives them any new ideas about things that were not screaned out when she was born.

 

[amyr]

I thought I would respond to this post with my blog entry for today.
<a href="http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx">http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx</a>
I am so sorry you are going through this. The diagnosis process can be so painful and stressful. I have been in your shoes and it's not fun..

 

[amyr]

I thought I would respond to this post with my blog entry for today.
<a href="http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx">http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx</a>
I am so sorry you are going through this. The diagnosis process can be so painful and stressful. I have been in your shoes and it's not fun..

 

[amyr]

<p>I thought I would respond to this post with my blog entry for today.
<p><a href="http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx">http://www.connections4life.com/blog/2011/05/31/The-Uninformed-Medical-Community.aspx</a>
<p>I am so sorry you are going through this. The diagnosis process can be so painful and stressful. I have been in your shoes and it's not fun..

 

[Beccamom]

Thank you for your post.  You inspired me to not give up on a dx and today I took my DD back to the pediatrician.  She is completely convinced my DD has Atypical CF and thinks will get the dx of Atypical CF as soon as our pulm returns from a conference.  Our pediatrician is able to see all communications between specialists since they are all from the same pediatric hospital network.  I am hoping she is right.  Today my DD received her Neumomax 23 vaccine and the pediatrician suggested that we put on her Zythromax 3 times a week for an underlying infection that is not resolved.  I am considering that option.  I realize a dx leads to a treatment plan and without it the drs are just guessing on a treatment.  My DD already has permanent lung damage, so I am feeling very compelled to find a dx to ensure that her treatment is more aggressive.  I have felt so much support and encouragement from this CF community.  Nearly all of these stories, experiences, and concerns match my DDs through multiple organ systems, hospitalizations, birth experiences, and now the dx process that I know this forum is where I belong.  I am a better mom because of how this forum and all involved have empowered me to advocate for my child. 

 

[Beccamom]

Thank you for your post. You inspired me to not give up on a dx and today I took my DD back to the pediatrician. She is completely convinced my DD has Atypical CF and thinks will get the dx of Atypical CF as soon as our pulm returns from a conference. Our pediatrician is able to see all communications between specialists since they are all from the same pediatric hospital network. I am hoping she is right. Today my DD received her Neumomax 23 vaccine and the pediatrician suggested that we put on her Zythromax 3 times a week for an underlying infection that is not resolved. I am considering that option. I realize a dx leads to a treatment plan and without it the drs are just guessing on a treatment. My DD already has permanent lung damage, so I am feeling very compelled to find a dx to ensure that her treatment is more aggressive. I have felt so much support and encouragement from this CF community. Nearly all of these stories, experiences, and concerns match my DDs through multiple organ systems, hospitalizations, birth experiences, and now the dx process that I know this forum is where I belong. I ama better mom because of how this forum and all involved have empowered me to advocate for my child.