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3 Mutations
- Thread starter zaj1139
- Start date
Yes, there have been a few that have posted here before. I am not sure if any of them are still active members but I've seen threads in the New Diagnosis forum a few times. It is possible for one gene to have multiple mutations (it's been documented, I believe, for a single gene to occasionally contain up to 3 or 4 mutations at times.) I do not know how this would impact the course of the disease vs. the typical child w/ CF that inherits one mutation from each parent.
The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
Yes, there have been a few that have posted here before. I am not sure if any of them are still active members but I've seen threads in the New Diagnosis forum a few times. It is possible for one gene to have multiple mutations (it's been documented, I believe, for a single gene to occasionally contain up to 3 or 4 mutations at times.) I do not know how this would impact the course of the disease vs. the typical child w/ CF that inherits one mutation from each parent.
The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
Yes, there have been a few that have posted here before. I am not sure if any of them are still active members but I've seen threads in the New Diagnosis forum a few times. It is possible for one gene to have multiple mutations (it's been documented, I believe, for a single gene to occasionally contain up to 3 or 4 mutations at times.) I do not know how this would impact the course of the disease vs. the typical child w/ CF that inherits one mutation from each parent.
<br />
<br />The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
<br />
<br />The parent with 2 mutations would still, of course, be just a carrier since both mutations are on one gene, leaving one healthy gene.
G
Gramma58
Guest
My grandson was diagnosed through newborn screening. He is now 13 months old and is very very healthy, has had absolutely no cf symptoms, and has had very few typical baby illnesses. He scored 24 on the sweat test and is pancreatic sufficient. His genes are r117h from his father and both s1235r and r785x from his mother. At his checkup with his CF specialist a few months ago, the doctor said that she would now call his diagnosis "cystic fibrosis related metabolic disorder." I think this really means that they do not know the outcome, but they say they believe that he will never be ill with cystic fibrosis symptoms, but it is likely that he will be sterile. She said that they will have a lot more info to share in about ten years, after more is learned about testing the general population in newborn screening.
I hope that Jaden is doing well.
I hope that Jaden is doing well.
G
Gramma58
Guest
My grandson was diagnosed through newborn screening. He is now 13 months old and is very very healthy, has had absolutely no cf symptoms, and has had very few typical baby illnesses. He scored 24 on the sweat test and is pancreatic sufficient. His genes are r117h from his father and both s1235r and r785x from his mother. At his checkup with his CF specialist a few months ago, the doctor said that she would now call his diagnosis "cystic fibrosis related metabolic disorder." I think this really means that they do not know the outcome, but they say they believe that he will never be ill with cystic fibrosis symptoms, but it is likely that he will be sterile. She said that they will have a lot more info to share in about ten years, after more is learned about testing the general population in newborn screening.
I hope that Jaden is doing well.
I hope that Jaden is doing well.
G
Gramma58
Guest
My grandson was diagnosed through newborn screening. He is now 13 months old and is very very healthy, has had absolutely no cf symptoms, and has had very few typical baby illnesses. He scored 24 on the sweat test and is pancreatic sufficient. His genes are r117h from his father and both s1235r and r785x from his mother. At his checkup with his CF specialist a few months ago, the doctor said that she would now call his diagnosis "cystic fibrosis related metabolic disorder." I think this really means that they do not know the outcome, but they say they believe that he will never be ill with cystic fibrosis symptoms, but it is likely that he will be sterile. She said that they will have a lot more info to share in about ten years, after more is learned about testing the general population in newborn screening.
<br />I hope that Jaden is doing well.
<br />I hope that Jaden is doing well.