Newborn testing shows R117H (from father) and S1235R AND R785X (from mother)

[ashmomo]

That is really crazy that he has 3 mutations. Maybe that could make it different. Hope so for his sake! <img src="i/expressions/face-icon-small-blush.gif" border="0">)

If the mother has 2 mutations, then she has CF, regardless of symptoms. My cousin is 33 and did not get diagnosed til 30 and only due to the fact he was infertile. Just cus she doesn't have symptoms, doesn't mean she doesn't have it. 2 mutations in one person = CF.

Sorry, I am no help on info on each mutation though.

 

[ashmomo]

That is really crazy that he has 3 mutations. Maybe that could make it different. Hope so for his sake! <img src="i/expressions/face-icon-small-blush.gif" border="0">)

If the mother has 2 mutations, then she has CF, regardless of symptoms. My cousin is 33 and did not get diagnosed til 30 and only due to the fact he was infertile. Just cus she doesn't have symptoms, doesn't mean she doesn't have it. 2 mutations in one person = CF.

Sorry, I am no help on info on each mutation though.

 

[ashmomo]

That is really crazy that he has 3 mutations. Maybe that could make it different. Hope so for his sake! <img src="i/expressions/face-icon-small-blush.gif" border="0">)

If the mother has 2 mutations, then she has CF, regardless of symptoms. My cousin is 33 and did not get diagnosed til 30 and only due to the fact he was infertile. Just cus she doesn't have symptoms, doesn't mean she doesn't have it. 2 mutations in one person = CF.

Sorry, I am no help on info on each mutation though.

 

[ashmomo]

That is really crazy that he has 3 mutations. Maybe that could make it different. Hope so for his sake! <img src="i/expressions/face-icon-small-blush.gif" border="0">)

If the mother has 2 mutations, then she has CF, regardless of symptoms. My cousin is 33 and did not get diagnosed til 30 and only due to the fact he was infertile. Just cus she doesn't have symptoms, doesn't mean she doesn't have it. 2 mutations in one person = CF.

Sorry, I am no help on info on each mutation though.

 

[ashmomo]

That is really crazy that he has 3 mutations. Maybe that could make it different. Hope so for his sake! <img src="i/expressions/face-icon-small-blush.gif" border="0">)
<br />
<br />If the mother has 2 mutations, then she has CF, regardless of symptoms. My cousin is 33 and did not get diagnosed til 30 and only due to the fact he was infertile. Just cus she doesn't have symptoms, doesn't mean she doesn't have it. 2 mutations in one person = CF.
<br />
<br />Sorry, I am no help on info on each mutation though.

 

[hmw]

Just to clarify a point about the three mutations and how one can have 2 mutations and not have CF:

As we all know, you need to inherit a mutation from each parent in order to have CF. All of our chromosomes are matched in pairs, one from each of our parents. When we have a baby, we pass on one of each of them to our children. He inherited R117H from dad. He inherited S1235R & R785X from mom.

Both of those mutations from mom came from ONE of her chromosomes... she still has the other chromosome w/ the CFTR gene (remember, you only pass one of yours to your baby), and assuming her other one is normal, this would indeed make her a carrier only. It's not unheard of for there to be more than one mutation on a gene.

Since his Ambry testing proved both of those mutations came from one gene there is no doubt from that standpoint mom is a carrier. She'd need an Ambry panel herself to rule out a mutation on her OTHER gene, of course. But without worrisome symptoms she has no greater odds of having CF than anyone else of her heritage.

 

[hmw]

Just to clarify a point about the three mutations and how one can have 2 mutations and not have CF:

As we all know, you need to inherit a mutation from each parent in order to have CF. All of our chromosomes are matched in pairs, one from each of our parents. When we have a baby, we pass on one of each of them to our children. He inherited R117H from dad. He inherited S1235R & R785X from mom.

Both of those mutations from mom came from ONE of her chromosomes... she still has the other chromosome w/ the CFTR gene (remember, you only pass one of yours to your baby), and assuming her other one is normal, this would indeed make her a carrier only. It's not unheard of for there to be more than one mutation on a gene.

Since his Ambry testing proved both of those mutations came from one gene there is no doubt from that standpoint mom is a carrier. She'd need an Ambry panel herself to rule out a mutation on her OTHER gene, of course. But without worrisome symptoms she has no greater odds of having CF than anyone else of her heritage.

 

[hmw]

Just to clarify a point about the three mutations and how one can have 2 mutations and not have CF:

As we all know, you need to inherit a mutation from each parent in order to have CF. All of our chromosomes are matched in pairs, one from each of our parents. When we have a baby, we pass on one of each of them to our children. He inherited R117H from dad. He inherited S1235R & R785X from mom.

Both of those mutations from mom came from ONE of her chromosomes... she still has the other chromosome w/ the CFTR gene (remember, you only pass one of yours to your baby), and assuming her other one is normal, this would indeed make her a carrier only. It's not unheard of for there to be more than one mutation on a gene.

Since his Ambry testing proved both of those mutations came from one gene there is no doubt from that standpoint mom is a carrier. She'd need an Ambry panel herself to rule out a mutation on her OTHER gene, of course. But without worrisome symptoms she has no greater odds of having CF than anyone else of her heritage.

 

[hmw]

Just to clarify a point about the three mutations and how one can have 2 mutations and not have CF:

As we all know, you need to inherit a mutation from each parent in order to have CF. All of our chromosomes are matched in pairs, one from each of our parents. When we have a baby, we pass on one of each of them to our children. He inherited R117H from dad. He inherited S1235R & R785X from mom.

Both of those mutations from mom came from ONE of her chromosomes... she still has the other chromosome w/ the CFTR gene (remember, you only pass one of yours to your baby), and assuming her other one is normal, this would indeed make her a carrier only. It's not unheard of for there to be more than one mutation on a gene.

Since his Ambry testing proved both of those mutations came from one gene there is no doubt from that standpoint mom is a carrier. She'd need an Ambry panel herself to rule out a mutation on her OTHER gene, of course. But without worrisome symptoms she has no greater odds of having CF than anyone else of her heritage.

 

[hmw]

Just to clarify a point about the three mutations and how one can have 2 mutations and not have CF:
<br />
<br />As we all know, you need to inherit a mutation from each parent in order to have CF. All of our chromosomes are matched in pairs, one from each of our parents. When we have a baby, we pass on one of each of them to our children. He inherited R117H from dad. He inherited S1235R & R785X from mom.
<br />
<br />Both of those mutations from mom came from ONE of her chromosomes... she still has the other chromosome w/ the CFTR gene (remember, you only pass one of yours to your baby), and assuming her other one is normal, this would indeed make her a carrier only. It's not unheard of for there to be more than one mutation on a gene.
<br />
<br />Since his Ambry testing proved both of those mutations came from one gene there is no doubt from that standpoint mom is a carrier. She'd need an Ambry panel herself to rule out a mutation on her OTHER gene, of course. But without worrisome symptoms she has no greater odds of having CF than anyone else of her heritage.

 

[Marjolein]

Just what I was going to say Harriet.

I'm sorry to hear your grandson was diagnosed Kathy, I hope he'll stay fairly healthy for a long time to come.

 

[Marjolein]

Just what I was going to say Harriet.

I'm sorry to hear your grandson was diagnosed Kathy, I hope he'll stay fairly healthy for a long time to come.

 

[Marjolein]

Just what I was going to say Harriet.

I'm sorry to hear your grandson was diagnosed Kathy, I hope he'll stay fairly healthy for a long time to come.

 

[Marjolein]

Just what I was going to say Harriet.

I'm sorry to hear your grandson was diagnosed Kathy, I hope he'll stay fairly healthy for a long time to come.

 

[Marjolein]

Just what I was going to say Harriet.
<br />
<br />I'm sorry to hear your grandson was diagnosed Kathy, I hope he'll stay fairly healthy for a long time to come.

 

[BecV]

Hi Kathy,

Congrats on the arrival of your grandson? What a miracle! Although I have no info on the mutations you grandson has, like you, my daughter was diagnosed with CF from her newborn screening too. Her initial sweat test was 41, second was 46, then proceeded to genetic testing. She too has absolutely no symptoms, she is pancreatic sufficient, and is a very good size and weight for her age. She is now two years old and has had 3 colds, in which she has got over so well, without developing a cough. I am however, very protective and always aware of any sickness that may be around and I do shield her as much as possible, while still doing her physio daily. I can understand and relate to you wanting to find out as much as possible about your grandsons mutations....I know we cant get caught up in the whole mild/severe thing....as CF is CF, but when you hear the word "mild" you can't help but hold on to the hope that they may never have any symptoms and that they will stay healthy and well forever....I wish you and your family all the very best.

 

[BecV]

Hi Kathy,

Congrats on the arrival of your grandson? What a miracle! Although I have no info on the mutations you grandson has, like you, my daughter was diagnosed with CF from her newborn screening too. Her initial sweat test was 41, second was 46, then proceeded to genetic testing. She too has absolutely no symptoms, she is pancreatic sufficient, and is a very good size and weight for her age. She is now two years old and has had 3 colds, in which she has got over so well, without developing a cough. I am however, very protective and always aware of any sickness that may be around and I do shield her as much as possible, while still doing her physio daily. I can understand and relate to you wanting to find out as much as possible about your grandsons mutations....I know we cant get caught up in the whole mild/severe thing....as CF is CF, but when you hear the word "mild" you can't help but hold on to the hope that they may never have any symptoms and that they will stay healthy and well forever....I wish you and your family all the very best.

 

[BecV]

Hi Kathy,

Congrats on the arrival of your grandson? What a miracle! Although I have no info on the mutations you grandson has, like you, my daughter was diagnosed with CF from her newborn screening too. Her initial sweat test was 41, second was 46, then proceeded to genetic testing. She too has absolutely no symptoms, she is pancreatic sufficient, and is a very good size and weight for her age. She is now two years old and has had 3 colds, in which she has got over so well, without developing a cough. I am however, very protective and always aware of any sickness that may be around and I do shield her as much as possible, while still doing her physio daily. I can understand and relate to you wanting to find out as much as possible about your grandsons mutations....I know we cant get caught up in the whole mild/severe thing....as CF is CF, but when you hear the word "mild" you can't help but hold on to the hope that they may never have any symptoms and that they will stay healthy and well forever....I wish you and your family all the very best.

 

[BecV]

Hi Kathy,

Congrats on the arrival of your grandson? What a miracle! Although I have no info on the mutations you grandson has, like you, my daughter was diagnosed with CF from her newborn screening too. Her initial sweat test was 41, second was 46, then proceeded to genetic testing. She too has absolutely no symptoms, she is pancreatic sufficient, and is a very good size and weight for her age. She is now two years old and has had 3 colds, in which she has got over so well, without developing a cough. I am however, very protective and always aware of any sickness that may be around and I do shield her as much as possible, while still doing her physio daily. I can understand and relate to you wanting to find out as much as possible about your grandsons mutations....I know we cant get caught up in the whole mild/severe thing....as CF is CF, but when you hear the word "mild" you can't help but hold on to the hope that they may never have any symptoms and that they will stay healthy and well forever....I wish you and your family all the very best.

 

[BecV]

Hi Kathy,
<br />
<br />Congrats on the arrival of your grandson? What a miracle! Although I have no info on the mutations you grandson has, like you, my daughter was diagnosed with CF from her newborn screening too. Her initial sweat test was 41, second was 46, then proceeded to genetic testing. She too has absolutely no symptoms, she is pancreatic sufficient, and is a very good size and weight for her age. She is now two years old and has had 3 colds, in which she has got over so well, without developing a cough. I am however, very protective and always aware of any sickness that may be around and I do shield her as much as possible, while still doing her physio daily. I can understand and relate to you wanting to find out as much as possible about your grandsons mutations....I know we cant get caught up in the whole mild/severe thing....as CF is CF, but when you hear the word "mild" you can't help but hold on to the hope that they may never have any symptoms and that they will stay healthy and well forever....I wish you and your family all the very best.