My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!
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Grandson Newly Diagnosed
- Thread starter pmotta
- Start date
My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!
My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!
My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!
My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!
M
Mommafirst
Guest
Welcome. Sorry to hear you have need to join us. I'd suggest posting in the Ambry thread at the top of the Families board. Steve is a geneticist who will be most likely to know this mutation.
M
Mommafirst
Guest
Welcome. Sorry to hear you have need to join us. I'd suggest posting in the Ambry thread at the top of the Families board. Steve is a geneticist who will be most likely to know this mutation.
M
Mommafirst
Guest
Welcome. Sorry to hear you have need to join us. I'd suggest posting in the Ambry thread at the top of the Families board. Steve is a geneticist who will be most likely to know this mutation.
M
Mommafirst
Guest
Welcome. Sorry to hear you have need to join us. I'd suggest posting in the Ambry thread at the top of the Families board. Steve is a geneticist who will be most likely to know this mutation.
M
Mommafirst
Guest
Welcome. Sorry to hear you have need to join us. I'd suggest posting in the Ambry thread at the top of the Families board. Steve is a geneticist who will be most likely to know this mutation.
Hi and welcome. Sorry to hear about your diagnosis. It must be a very difficult time for your family but believe me, it will get better.
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
Hi and welcome. Sorry to hear about your diagnosis. It must be a very difficult time for your family but believe me, it will get better.
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
Hi and welcome. Sorry to hear about your diagnosis. It must be a very difficult time for your family but believe me, it will get better.
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
Hi and welcome. Sorry to hear about your diagnosis. It must be a very difficult time for your family but believe me, it will get better.
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
I attribute her good health to the environmental and dietary changes that we made.
You can PM if you have any questions or just want to talk
I attribute
Hi and welcome. Sorry to hear about your diagnosis. It must be a very difficult time for your family but believe me, it will get better.
<br />
<br />my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
<br />
<br />My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
<br />
<br />she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
<br />
<br />I attribute her good health to the environmental and dietary changes that we made.
<br />
<br />You can PM if you have any questions or just want to talk
<br />
<br />I attribute
<br />
<br />my dd (2 yr old)has the same mutations. the second mutation is not actually very rare, I think it accounts for 2% of all cases, but Steve can confirm that. It is supposed to be a mild mutation, but as you will learn mutations do not predict outcome.
<br />
<br />My dd is doing quite well. She is pancreatic sufficient, meaning she does not need to take enzymes with her meals.
<br />
<br />she cultures Staph and cultured Pseudo once (both are very typical CF bugs) but it was eradicated and has not shown its ugly head since.
<br />
<br />I attribute her good health to the environmental and dietary changes that we made.
<br />
<br />You can PM if you have any questions or just want to talk
<br />
<br />I attribute
welcome to the boards. I'm glad you found us...this place is a wealth of information and friendships. I have those same two mutations. As you'll find out most people even if they have the same genes have different presentations of the disease. Some are very similar with only small unique aspects while others are drastically different. My doctor told me that while my mutations are supposed to be more "mild" that i have more classic cf symptoms than not. so not to be a downer but it's best not to bank on mutations being "mild" because we just don't know how they will play out.
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
welcome to the boards. I'm glad you found us...this place is a wealth of information and friendships. I have those same two mutations. As you'll find out most people even if they have the same genes have different presentations of the disease. Some are very similar with only small unique aspects while others are drastically different. My doctor told me that while my mutations are supposed to be more "mild" that i have more classic cf symptoms than not. so not to be a downer but it's best not to bank on mutations being "mild" because we just don't know how they will play out.
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
welcome to the boards. I'm glad you found us...this place is a wealth of information and friendships. I have those same two mutations. As you'll find out most people even if they have the same genes have different presentations of the disease. Some are very similar with only small unique aspects while others are drastically different. My doctor told me that while my mutations are supposed to be more "mild" that i have more classic cf symptoms than not. so not to be a downer but it's best not to bank on mutations being "mild" because we just don't know how they will play out.
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
welcome to the boards. I'm glad you found us...this place is a wealth of information and friendships. I have those same two mutations. As you'll find out most people even if they have the same genes have different presentations of the disease. Some are very similar with only small unique aspects while others are drastically different. My doctor told me that while my mutations are supposed to be more "mild" that i have more classic cf symptoms than not. so not to be a downer but it's best not to bank on mutations being "mild" because we just don't know how they will play out.
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
feel free to pm me if you'd like....
welcome to the boards. I'm glad you found us...this place is a wealth of information and friendships. I have those same two mutations. As you'll find out most people even if they have the same genes have different presentations of the disease. Some are very similar with only small unique aspects while others are drastically different. My doctor told me that while my mutations are supposed to be more "mild" that i have more classic cf symptoms than not. so not to be a downer but it's best not to bank on mutations being "mild" because we just don't know how they will play out.
<br />
<br />I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
<br />
<br />I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />feel free to pm me if you'd like....
<br />
<br />I was diagnosed at 3 months old-failure to thrive. I've always been pancreatic insufficient and so always taken enzymes when I eat. I had my first hospitalization at 6 to get IV antibiotics and it was about every two years after that until highschool then it's been 1-2 times per year since then. My lung function sits at about 58% now at my best which isn't too bad. I've cultured a couple types of pseudo and staph since i was very young and their flare ups have been the cause for the majority of my needs for IVs.
<br />
<br />I was extremely active in sports growing up (swimming and softball and one very short lived stint playing soccer) and those most definitely helped me keep my lungs in pretty good shape between rounds of IVs. my parents treated me like a completely normal kid and pretty much let me do whatever activities i wanted to do and found a way to make cf fit into them (summer camp, sleep overs, vacations, etc.). I went to college and now have a full-time job and I'm still kicking <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />feel free to pm me if you'd like....