Needing some insight.. Feeling doscouraged...

M

makahfili

New member
Ok, My 8 year old daughter started having symptoms of GI issues and had a past history of pulmonary issues as well which landed her in the GI office. From there the doc sent her for a 2nd sweat test beings the 1st one 2 yrs prior came back borderline. The second came back borderline as well. So we went on to genetics testing and with the Ambry test, this is what came back...

125G>C (heterozygous), untranslated region. Benign classification.

2694T>T (homozygous), T854T, Benign classification.

I spoke with the nurse at the CF clinic over the phone and he confirmed the CF diagnosis and made an appt for 5-3-10. My dd has also had a colonoscopy/endoscopy/biopsies that turned up colitis in the left and right colon. As well as her Calprotectin levels elevated 3 times the normal. And her fecal fat came back elevated as well. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I am wondering if ANYONE can let me in on any info on the mutations, her symptoms, or both, or any additional advice I can get!!!??? The nurse told me to get in asap because I currently have pnemonia and pancreatitus symptoms too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> Just looking for anything at all to help during the wait...

Thank you,
Tiffany<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

makahfili

New member
Ok, My 8 year old daughter started having symptoms of GI issues and had a past history of pulmonary issues as well which landed her in the GI office. From there the doc sent her for a 2nd sweat test beings the 1st one 2 yrs prior came back borderline. The second came back borderline as well. So we went on to genetics testing and with the Ambry test, this is what came back...

125G>C (heterozygous), untranslated region. Benign classification.

2694T>T (homozygous), T854T, Benign classification.

I spoke with the nurse at the CF clinic over the phone and he confirmed the CF diagnosis and made an appt for 5-3-10. My dd has also had a colonoscopy/endoscopy/biopsies that turned up colitis in the left and right colon. As well as her Calprotectin levels elevated 3 times the normal. And her fecal fat came back elevated as well. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I am wondering if ANYONE can let me in on any info on the mutations, her symptoms, or both, or any additional advice I can get!!!??? The nurse told me to get in asap because I currently have pnemonia and pancreatitus symptoms too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> Just looking for anything at all to help during the wait...

Thank you,
Tiffany<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

makahfili

New member
Ok, My 8 year old daughter started having symptoms of GI issues and had a past history of pulmonary issues as well which landed her in the GI office. From there the doc sent her for a 2nd sweat test beings the 1st one 2 yrs prior came back borderline. The second came back borderline as well. So we went on to genetics testing and with the Ambry test, this is what came back...

125G>C (heterozygous), untranslated region. Benign classification.

2694T>T (homozygous), T854T, Benign classification.

I spoke with the nurse at the CF clinic over the phone and he confirmed the CF diagnosis and made an appt for 5-3-10. My dd has also had a colonoscopy/endoscopy/biopsies that turned up colitis in the left and right colon. As well as her Calprotectin levels elevated 3 times the normal. And her fecal fat came back elevated as well. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I am wondering if ANYONE can let me in on any info on the mutations, her symptoms, or both, or any additional advice I can get!!!??? The nurse told me to get in asap because I currently have pnemonia and pancreatitus symptoms too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> Just looking for anything at all to help during the wait...

Thank you,
Tiffany<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

makahfili

New member
Ok, My 8 year old daughter started having symptoms of GI issues and had a past history of pulmonary issues as well which landed her in the GI office. From there the doc sent her for a 2nd sweat test beings the 1st one 2 yrs prior came back borderline. The second came back borderline as well. So we went on to genetics testing and with the Ambry test, this is what came back...

125G>C (heterozygous), untranslated region. Benign classification.

2694T>T (homozygous), T854T, Benign classification.

I spoke with the nurse at the CF clinic over the phone and he confirmed the CF diagnosis and made an appt for 5-3-10. My dd has also had a colonoscopy/endoscopy/biopsies that turned up colitis in the left and right colon. As well as her Calprotectin levels elevated 3 times the normal. And her fecal fat came back elevated as well. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I am wondering if ANYONE can let me in on any info on the mutations, her symptoms, or both, or any additional advice I can get!!!??? The nurse told me to get in asap because I currently have pnemonia and pancreatitus symptoms too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> Just looking for anything at all to help during the wait...

Thank you,
Tiffany<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

makahfili

New member
Ok, My 8 year old daughter started having symptoms of GI issues and had a past history of pulmonary issues as well which landed her in the GI office. From there the doc sent her for a 2nd sweat test beings the 1st one 2 yrs prior came back borderline. The second came back borderline as well. So we went on to genetics testing and with the Ambry test, this is what came back...
<br />
<br />125G>C (heterozygous), untranslated region. Benign classification.
<br />
<br />2694T>T (homozygous), T854T, Benign classification.
<br />
<br />I spoke with the nurse at the CF clinic over the phone and he confirmed the CF diagnosis and made an appt for 5-3-10. My dd has also had a colonoscopy/endoscopy/biopsies that turned up colitis in the left and right colon. As well as her Calprotectin levels elevated 3 times the normal. And her fecal fat came back elevated as well. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I am wondering if ANYONE can let me in on any info on the mutations, her symptoms, or both, or any additional advice I can get!!!??? The nurse told me to get in asap because I currently have pnemonia and pancreatitus symptoms too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> Just looking for anything at all to help during the wait...
<br />
<br />Thank you,
<br />Tiffany<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

Mommafirst

Guest
Hi Tiffany. I'm so sorry. Diagnosis is such a difficult time. I'm sure that with all your daughter has been through that this must bring mixed feelings of relief and major upset all at once. I can't tell you much about what all this means, as CF is just so different for everyone, but I can tell you that it will get easier to cope. It will be a bumpy road as you learn all there is to learn and come to some acceptance in all this -- but it will get easier.

Hang in there and hang in here... you will find the most supportive knowledgeable people here.
 
M

Mommafirst

Guest
Hi Tiffany. I'm so sorry. Diagnosis is such a difficult time. I'm sure that with all your daughter has been through that this must bring mixed feelings of relief and major upset all at once. I can't tell you much about what all this means, as CF is just so different for everyone, but I can tell you that it will get easier to cope. It will be a bumpy road as you learn all there is to learn and come to some acceptance in all this -- but it will get easier.

Hang in there and hang in here... you will find the most supportive knowledgeable people here.
 
M

Mommafirst

Guest
Hi Tiffany. I'm so sorry. Diagnosis is such a difficult time. I'm sure that with all your daughter has been through that this must bring mixed feelings of relief and major upset all at once. I can't tell you much about what all this means, as CF is just so different for everyone, but I can tell you that it will get easier to cope. It will be a bumpy road as you learn all there is to learn and come to some acceptance in all this -- but it will get easier.

Hang in there and hang in here... you will find the most supportive knowledgeable people here.
 
M

Mommafirst

Guest
Hi Tiffany. I'm so sorry. Diagnosis is such a difficult time. I'm sure that with all your daughter has been through that this must bring mixed feelings of relief and major upset all at once. I can't tell you much about what all this means, as CF is just so different for everyone, but I can tell you that it will get easier to cope. It will be a bumpy road as you learn all there is to learn and come to some acceptance in all this -- but it will get easier.

Hang in there and hang in here... you will find the most supportive knowledgeable people here.
 
M

Mommafirst

Guest
Hi Tiffany. I'm so sorry. Diagnosis is such a difficult time. I'm sure that with all your daughter has been through that this must bring mixed feelings of relief and major upset all at once. I can't tell you much about what all this means, as CF is just so different for everyone, but I can tell you that it will get easier to cope. It will be a bumpy road as you learn all there is to learn and come to some acceptance in all this -- but it will get easier.
<br />
<br />Hang in there and hang in here... you will find the most supportive knowledgeable people here.
 
A

auntcob

New member
Tiffany--You are ahead of the game in a manner of speaking--there are some CF clinics that would not diagnose CF with two benign mutations as was our experience with my son. But--we quickly found a better clinic and he has been diagnosed. I think you asked previously what a 5T variant is. I have to be honest--I don't remember all of the details but i think it has something to do with the location on the gene where the mutation is. Any information I learned came from my own internet research. Then the doc confirmed that the presentation of the 5T variant ranges from asymptomatic to classic presentation.

My son has primarily GI symptoms. He had the colonoscopy, endoscopy, capsule endoscopy too. High fecal fat. He is doing so much better since he started the enzymes. He has even gained a few of the 15 lbs he lost. I know May 3 seems like a long time in the future, but our first experience with the CF clinic and docs was excellent. They were very attentive and thorough and we left that day feeling so much more prepared.

My son's presentation has been fairly mild but he only shares one of the mutations that your child has. His lungs are pretty healthy--we only have to do chest Pt when he is sick and he does not need to use a vest yet. His PFT's are usually low 80s. His biggest problem to date is gaining his strength back and having the energy to make it through a whole school day. I feel like I have rambled.......Hope something in this helped!

Also, hope you get some answers about yourself. I hope being an adult before you get diagnosed means that the case is relatively mild.

Best,

Chris
 
A

auntcob

New member
Tiffany--You are ahead of the game in a manner of speaking--there are some CF clinics that would not diagnose CF with two benign mutations as was our experience with my son. But--we quickly found a better clinic and he has been diagnosed. I think you asked previously what a 5T variant is. I have to be honest--I don't remember all of the details but i think it has something to do with the location on the gene where the mutation is. Any information I learned came from my own internet research. Then the doc confirmed that the presentation of the 5T variant ranges from asymptomatic to classic presentation.

My son has primarily GI symptoms. He had the colonoscopy, endoscopy, capsule endoscopy too. High fecal fat. He is doing so much better since he started the enzymes. He has even gained a few of the 15 lbs he lost. I know May 3 seems like a long time in the future, but our first experience with the CF clinic and docs was excellent. They were very attentive and thorough and we left that day feeling so much more prepared.

My son's presentation has been fairly mild but he only shares one of the mutations that your child has. His lungs are pretty healthy--we only have to do chest Pt when he is sick and he does not need to use a vest yet. His PFT's are usually low 80s. His biggest problem to date is gaining his strength back and having the energy to make it through a whole school day. I feel like I have rambled.......Hope something in this helped!

Also, hope you get some answers about yourself. I hope being an adult before you get diagnosed means that the case is relatively mild.

Best,

Chris
 
A

auntcob

New member
Tiffany--You are ahead of the game in a manner of speaking--there are some CF clinics that would not diagnose CF with two benign mutations as was our experience with my son. But--we quickly found a better clinic and he has been diagnosed. I think you asked previously what a 5T variant is. I have to be honest--I don't remember all of the details but i think it has something to do with the location on the gene where the mutation is. Any information I learned came from my own internet research. Then the doc confirmed that the presentation of the 5T variant ranges from asymptomatic to classic presentation.

My son has primarily GI symptoms. He had the colonoscopy, endoscopy, capsule endoscopy too. High fecal fat. He is doing so much better since he started the enzymes. He has even gained a few of the 15 lbs he lost. I know May 3 seems like a long time in the future, but our first experience with the CF clinic and docs was excellent. They were very attentive and thorough and we left that day feeling so much more prepared.

My son's presentation has been fairly mild but he only shares one of the mutations that your child has. His lungs are pretty healthy--we only have to do chest Pt when he is sick and he does not need to use a vest yet. His PFT's are usually low 80s. His biggest problem to date is gaining his strength back and having the energy to make it through a whole school day. I feel like I have rambled.......Hope something in this helped!

Also, hope you get some answers about yourself. I hope being an adult before you get diagnosed means that the case is relatively mild.

Best,

Chris
 
A

auntcob

New member
Tiffany--You are ahead of the game in a manner of speaking--there are some CF clinics that would not diagnose CF with two benign mutations as was our experience with my son. But--we quickly found a better clinic and he has been diagnosed. I think you asked previously what a 5T variant is. I have to be honest--I don't remember all of the details but i think it has something to do with the location on the gene where the mutation is. Any information I learned came from my own internet research. Then the doc confirmed that the presentation of the 5T variant ranges from asymptomatic to classic presentation.

My son has primarily GI symptoms. He had the colonoscopy, endoscopy, capsule endoscopy too. High fecal fat. He is doing so much better since he started the enzymes. He has even gained a few of the 15 lbs he lost. I know May 3 seems like a long time in the future, but our first experience with the CF clinic and docs was excellent. They were very attentive and thorough and we left that day feeling so much more prepared.

My son's presentation has been fairly mild but he only shares one of the mutations that your child has. His lungs are pretty healthy--we only have to do chest Pt when he is sick and he does not need to use a vest yet. His PFT's are usually low 80s. His biggest problem to date is gaining his strength back and having the energy to make it through a whole school day. I feel like I have rambled.......Hope something in this helped!

Also, hope you get some answers about yourself. I hope being an adult before you get diagnosed means that the case is relatively mild.

Best,

Chris
 
A

auntcob

New member
Tiffany--You are ahead of the game in a manner of speaking--there are some CF clinics that would not diagnose CF with two benign mutations as was our experience with my son. But--we quickly found a better clinic and he has been diagnosed. I think you asked previously what a 5T variant is. I have to be honest--I don't remember all of the details but i think it has something to do with the location on the gene where the mutation is. Any information I learned came from my own internet research. Then the doc confirmed that the presentation of the 5T variant ranges from asymptomatic to classic presentation.
<br />
<br />My son has primarily GI symptoms. He had the colonoscopy, endoscopy, capsule endoscopy too. High fecal fat. He is doing so much better since he started the enzymes. He has even gained a few of the 15 lbs he lost. I know May 3 seems like a long time in the future, but our first experience with the CF clinic and docs was excellent. They were very attentive and thorough and we left that day feeling so much more prepared.
<br />
<br />My son's presentation has been fairly mild but he only shares one of the mutations that your child has. His lungs are pretty healthy--we only have to do chest Pt when he is sick and he does not need to use a vest yet. His PFT's are usually low 80s. His biggest problem to date is gaining his strength back and having the energy to make it through a whole school day. I feel like I have rambled.......Hope something in this helped!
<br />
<br />Also, hope you get some answers about yourself. I hope being an adult before you get diagnosed means that the case is relatively mild.
<br />
<br />Best,
<br />
<br />Chris
 
H

hmw

New member
Tiffany~ dx IS a difficult, confusing time. I'm so sorry you have to wait for a May appt. We were so fortunate that we were able to get in within a few days of Emily's dx and that went a long way in answering many questions. 'Benign' classification of mutations is a controversial thing. Some drs put more credence in that than others; a few are not associated with causing disease symptoms or are unknown for what symptoms they cause and therefore they don't know what to classify them as. Obviously, in a case where a child is symptomatic, mutations cannot be 'benign' and the dx is both appropriate and necessary and you are very fortunate that your child is being seen at a clinic that realizes that. I hope you get your questions answered and that your child improves quickly once she's started on appropriate treatment.

Chris~ pft's in the low 80's is of concern for a child/teenager... I would want to pursue getting a vest. There are MANY people on this site with pft's at/approaching 100% that have a vest and use it daily to their great benefit. Preventative treatment is the cornerstone of treating cf effectively, as is getting our kids in the habit of daily treatment.

Daily treatment might get those pft's up from the low 80's... as well as boost that energy. Does he cough on exertion, get out of breath easily, etc? Low energy is a sign that all is not as well as it should be, I think, and that treatment still needs to be optimized.
 
H

hmw

New member
Tiffany~ dx IS a difficult, confusing time. I'm so sorry you have to wait for a May appt. We were so fortunate that we were able to get in within a few days of Emily's dx and that went a long way in answering many questions. 'Benign' classification of mutations is a controversial thing. Some drs put more credence in that than others; a few are not associated with causing disease symptoms or are unknown for what symptoms they cause and therefore they don't know what to classify them as. Obviously, in a case where a child is symptomatic, mutations cannot be 'benign' and the dx is both appropriate and necessary and you are very fortunate that your child is being seen at a clinic that realizes that. I hope you get your questions answered and that your child improves quickly once she's started on appropriate treatment.

Chris~ pft's in the low 80's is of concern for a child/teenager... I would want to pursue getting a vest. There are MANY people on this site with pft's at/approaching 100% that have a vest and use it daily to their great benefit. Preventative treatment is the cornerstone of treating cf effectively, as is getting our kids in the habit of daily treatment.

Daily treatment might get those pft's up from the low 80's... as well as boost that energy. Does he cough on exertion, get out of breath easily, etc? Low energy is a sign that all is not as well as it should be, I think, and that treatment still needs to be optimized.
 
H

hmw

New member
Tiffany~ dx IS a difficult, confusing time. I'm so sorry you have to wait for a May appt. We were so fortunate that we were able to get in within a few days of Emily's dx and that went a long way in answering many questions. 'Benign' classification of mutations is a controversial thing. Some drs put more credence in that than others; a few are not associated with causing disease symptoms or are unknown for what symptoms they cause and therefore they don't know what to classify them as. Obviously, in a case where a child is symptomatic, mutations cannot be 'benign' and the dx is both appropriate and necessary and you are very fortunate that your child is being seen at a clinic that realizes that. I hope you get your questions answered and that your child improves quickly once she's started on appropriate treatment.

Chris~ pft's in the low 80's is of concern for a child/teenager... I would want to pursue getting a vest. There are MANY people on this site with pft's at/approaching 100% that have a vest and use it daily to their great benefit. Preventative treatment is the cornerstone of treating cf effectively, as is getting our kids in the habit of daily treatment.

Daily treatment might get those pft's up from the low 80's... as well as boost that energy. Does he cough on exertion, get out of breath easily, etc? Low energy is a sign that all is not as well as it should be, I think, and that treatment still needs to be optimized.
 
H

hmw

New member
Tiffany~ dx IS a difficult, confusing time. I'm so sorry you have to wait for a May appt. We were so fortunate that we were able to get in within a few days of Emily's dx and that went a long way in answering many questions. 'Benign' classification of mutations is a controversial thing. Some drs put more credence in that than others; a few are not associated with causing disease symptoms or are unknown for what symptoms they cause and therefore they don't know what to classify them as. Obviously, in a case where a child is symptomatic, mutations cannot be 'benign' and the dx is both appropriate and necessary and you are very fortunate that your child is being seen at a clinic that realizes that. I hope you get your questions answered and that your child improves quickly once she's started on appropriate treatment.

Chris~ pft's in the low 80's is of concern for a child/teenager... I would want to pursue getting a vest. There are MANY people on this site with pft's at/approaching 100% that have a vest and use it daily to their great benefit. Preventative treatment is the cornerstone of treating cf effectively, as is getting our kids in the habit of daily treatment.

Daily treatment might get those pft's up from the low 80's... as well as boost that energy. Does he cough on exertion, get out of breath easily, etc? Low energy is a sign that all is not as well as it should be, I think, and that treatment still needs to be optimized.
 
H

hmw

New member
Tiffany~ dx IS a difficult, confusing time. I'm so sorry you have to wait for a May appt. We were so fortunate that we were able to get in within a few days of Emily's dx and that went a long way in answering many questions. 'Benign' classification of mutations is a controversial thing. Some drs put more credence in that than others; a few are not associated with causing disease symptoms or are unknown for what symptoms they cause and therefore they don't know what to classify them as. Obviously, in a case where a child is symptomatic, mutations cannot be 'benign' and the dx is both appropriate and necessary and you are very fortunate that your child is being seen at a clinic that realizes that. I hope you get your questions answered and that your child improves quickly once she's started on appropriate treatment.
<br />
<br />Chris~ pft's in the low 80's is of concern for a child/teenager... I would want to pursue getting a vest. There are MANY people on this site with pft's at/approaching 100% that have a vest and use it daily to their great benefit. Preventative treatment is the cornerstone of treating cf effectively, as is getting our kids in the habit of daily treatment.
<br />
<br />Daily treatment might get those pft's up from the low 80's... as well as boost that energy. Does he cough on exertion, get out of breath easily, etc? Low energy is a sign that all is not as well as it should be, I think, and that treatment still needs to be optimized.
 
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