Ever since my son was diagnosed a year ago, I've been trying to find someone else with his second mutation, but with no luck. While I understand that you can't determine the severity of the disease by the mutation, I'm simply trying to see just how rare the mutation is. Also, I'd like to understand exactly WHAT the mutation means from a scientific standpoint, since there isn't much information available on it.
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Searching For Mutation: c.2789+2_+3insA
- Thread starter candi81
- Start date
Ever since my son was diagnosed a year ago, I've been trying to find someone else with his second mutation, but with no luck. While I understand that you can't determine the severity of the disease by the mutation, I'm simply trying to see just how rare the mutation is. Also, I'd like to understand exactly WHAT the mutation means from a scientific standpoint, since there isn't much information available on it.
Ever since my son was diagnosed a year ago, I've been trying to find someone else with his second mutation, but with no luck. While I understand that you can't determine the severity of the disease by the mutation, I'm simply trying to see just how rare the mutation is. Also, I'd like to understand exactly WHAT the mutation means from a scientific standpoint, since there isn't much information available on it.
W
worriedgrandma
Guest
Hi, I think my granddaughter has the same mutation as your son. She has DF508 combined with c.2657+2_2657+3insA, also known by the legacy name as 2789+2insA. She is now 5 months old with no symptoms. The only info I have been able to find is that this combination has affected men by causing infertility but it seems they have had no other symptoms. Does you son have any symptoms at all. There is another poster on her also whose child has this combination. I think her name is katzyloo
W
worriedgrandma
Guest
Hi, I think my granddaughter has the same mutation as your son. She has DF508 combined with c.2657+2_2657+3insA, also known by the legacy name as 2789+2insA. She is now 5 months old with no symptoms. The only info I have been able to find is that this combination has affected men by causing infertility but it seems they have had no other symptoms. Does you son have any symptoms at all. There is another poster on her also whose child has this combination. I think her name is katzyloo
W
worriedgrandma
Guest
Hi, I think my granddaughter has the same mutation as your son. She has DF508 combined with c.2657+2_2657+3insA, also known by the legacy name as 2789+2insA. She is now 5 months old with no symptoms. The only info I have been able to find is that this combination has affected men by causing infertility but it seems they have had no other symptoms. Does you son have any symptoms at all. There is another poster on her also whose child has this combination. I think her name is katzyloo
CANDI81
Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
If I can help please dont hesitate.
katie
Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
If I can help please dont hesitate.
katie
CANDI81
Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
If I can help please dont hesitate.
katie
Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
If I can help please dont hesitate.
katie
CANDI81
<br />Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
<br />In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
<br />My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
<br />He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
<br />Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
<br />If I can help please dont hesitate.
<br />katie
<br />Hi my son has these gene mutations. The only thing I can really say about them is I believe that they were first discovered after men were going to fertility centres later in life and this is when it was diagnosed. (However all men with cf, I believe have a high prevalence of being infertile, regards of gene mutations.) Other than this they didn't have any other health issues and no significant chest complaints. I am reminded everytime we go to the cf clinic that every case is different and affects the patient differently. Also these samples were case studies commonly done in france and spain. They were not scientific research. Unfortunately there is limited information. I googled the genes and this is where i found the case studies.
<br />In terms of how rare this particular gene is, the case study did mention that out of the sample it was a novel gene (only had a very small number of men with it, and certainly was not the most common out of the sample).
<br />My son is 4 months and very healthy. He is pancreatic sufficient and has had no chest infections to date.
<br />He does have acid reflux, gets physio once a day and has sodium chloride in his feed for low salt levels.
<br />Has your son had any complications. Every other parent I have spoke to with children with this combination have been very healthy and well, and carry out preventative measures. All positive signs.
<br />If I can help please dont hesitate.
<br />katie