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

L

LouLou

New member
Prevention is everything with cf.
Mutations do not predict outcome.
Do not believe everything your doctor says but optimism is good.

I have cf (DF508 and G551D) we tested our son to rule out any chance of him having cf since dh was only tested for 95% of the known mutations at hte time.

They found S1235R and G551D. He has no symptoms other than autogenic palmar wrinkling and we hope to keep it that way. He is 2.5 years old.

You can search S1235R on this site for various stories. The most advanced case of cf on here with S1235R is Malora. She is 16 (I believe) and her mom was active on here at one point. I don't remember her log in though.
 
L

LouLou

New member
Prevention is everything with cf.
Mutations do not predict outcome.
Do not believe everything your doctor says but optimism is good.

I have cf (DF508 and G551D) we tested our son to rule out any chance of him having cf since dh was only tested for 95% of the known mutations at hte time.

They found S1235R and G551D. He has no symptoms other than autogenic palmar wrinkling and we hope to keep it that way. He is 2.5 years old.

You can search S1235R on this site for various stories. The most advanced case of cf on here with S1235R is Malora. She is 16 (I believe) and her mom was active on here at one point. I don't remember her log in though.
 
L

LouLou

New member
Prevention is everything with cf.
Mutations do not predict outcome.
Do not believe everything your doctor says but optimism is good.

I have cf (DF508 and G551D) we tested our son to rule out any chance of him having cf since dh was only tested for 95% of the known mutations at hte time.

They found S1235R and G551D. He has no symptoms other than autogenic palmar wrinkling and we hope to keep it that way. He is 2.5 years old.

You can search S1235R on this site for various stories. The most advanced case of cf on here with S1235R is Malora. She is 16 (I believe) and her mom was active on here at one point. I don't remember her log in though.
 
L

LouLou

New member
Prevention is everything with cf.
Mutations do not predict outcome.
Do not believe everything your doctor says but optimism is good.

I have cf (DF508 and G551D) we tested our son to rule out any chance of him having cf since dh was only tested for 95% of the known mutations at hte time.

They found S1235R and G551D. He has no symptoms other than autogenic palmar wrinkling and we hope to keep it that way. He is 2.5 years old.

You can search S1235R on this site for various stories. The most advanced case of cf on here with S1235R is Malora. She is 16 (I believe) and her mom was active on here at one point. I don't remember her log in though.
 
L

LouLou

New member
Prevention is everything with cf.
<br />Mutations do not predict outcome.
<br />Do not believe everything your doctor says but optimism is good.
<br />
<br />I have cf (DF508 and G551D) we tested our son to rule out any chance of him having cf since dh was only tested for 95% of the known mutations at hte time.
<br />
<br />They found S1235R and G551D. He has no symptoms other than autogenic palmar wrinkling and we hope to keep it that way. He is 2.5 years old.
<br />
<br />You can search S1235R on this site for various stories. The most advanced case of cf on here with S1235R is Malora. She is 16 (I believe) and her mom was active on here at one point. I don't remember her log in though.
 
C

Cherylwithone

Guest
Hi Kathy,
Sorry to hear about your grandson. I just saw this post.
LouLou is correct my daughter has one of the mutations of your
grandson. S1235R. You won't find much on it. It's rare and not many have it. In my daughters case I can tell you this.
Her's started all gut. She was listed failure to thrive etc. I had three sweat test done on her because I was one of those that kept saying there must be some mistake. No way can she have CF. Not in our family history. Each time she was positive
on the test. She is 16 years old and is a junior now in high school. Her lungs and sinus were fine until 3 years ago. She does everything her doctors tell her to do to keep her health in check. She knows weight plays a big part in her health. She is a size 0. She is well educated about her health and she does the talking with the doctors when it comes to her health care. I have found it is better to in power her then to keep her in the dark. She is making plans for her future and plans to live a long life. She just happens to be a 16 year old with CF.

I hope he stays healthy for a very long time. There is a lot
of research going on. Make sure he is at a good CF center and
that his parents ask lots and lots of questions. The more you know the better.

You can PM anytime.
 
C

Cherylwithone

Guest
Hi Kathy,
Sorry to hear about your grandson. I just saw this post.
LouLou is correct my daughter has one of the mutations of your
grandson. S1235R. You won't find much on it. It's rare and not many have it. In my daughters case I can tell you this.
Her's started all gut. She was listed failure to thrive etc. I had three sweat test done on her because I was one of those that kept saying there must be some mistake. No way can she have CF. Not in our family history. Each time she was positive
on the test. She is 16 years old and is a junior now in high school. Her lungs and sinus were fine until 3 years ago. She does everything her doctors tell her to do to keep her health in check. She knows weight plays a big part in her health. She is a size 0. She is well educated about her health and she does the talking with the doctors when it comes to her health care. I have found it is better to in power her then to keep her in the dark. She is making plans for her future and plans to live a long life. She just happens to be a 16 year old with CF.

I hope he stays healthy for a very long time. There is a lot
of research going on. Make sure he is at a good CF center and
that his parents ask lots and lots of questions. The more you know the better.

You can PM anytime.
 
C

Cherylwithone

Guest
Hi Kathy,
Sorry to hear about your grandson. I just saw this post.
LouLou is correct my daughter has one of the mutations of your
grandson. S1235R. You won't find much on it. It's rare and not many have it. In my daughters case I can tell you this.
Her's started all gut. She was listed failure to thrive etc. I had three sweat test done on her because I was one of those that kept saying there must be some mistake. No way can she have CF. Not in our family history. Each time she was positive
on the test. She is 16 years old and is a junior now in high school. Her lungs and sinus were fine until 3 years ago. She does everything her doctors tell her to do to keep her health in check. She knows weight plays a big part in her health. She is a size 0. She is well educated about her health and she does the talking with the doctors when it comes to her health care. I have found it is better to in power her then to keep her in the dark. She is making plans for her future and plans to live a long life. She just happens to be a 16 year old with CF.

I hope he stays healthy for a very long time. There is a lot
of research going on. Make sure he is at a good CF center and
that his parents ask lots and lots of questions. The more you know the better.

You can PM anytime.
 
C

Cherylwithone

Guest
Hi Kathy,
Sorry to hear about your grandson. I just saw this post.
LouLou is correct my daughter has one of the mutations of your
grandson. S1235R. You won't find much on it. It's rare and not many have it. In my daughters case I can tell you this.
Her's started all gut. She was listed failure to thrive etc. I had three sweat test done on her because I was one of those that kept saying there must be some mistake. No way can she have CF. Not in our family history. Each time she was positive
on the test. She is 16 years old and is a junior now in high school. Her lungs and sinus were fine until 3 years ago. She does everything her doctors tell her to do to keep her health in check. She knows weight plays a big part in her health. She is a size 0. She is well educated about her health and she does the talking with the doctors when it comes to her health care. I have found it is better to in power her then to keep her in the dark. She is making plans for her future and plans to live a long life. She just happens to be a 16 year old with CF.

I hope he stays healthy for a very long time. There is a lot
of research going on. Make sure he is at a good CF center and
that his parents ask lots and lots of questions. The more you know the better.

You can PM anytime.
 
C

Cherylwithone

Guest
Hi Kathy,
<br />Sorry to hear about your grandson. I just saw this post.
<br />LouLou is correct my daughter has one of the mutations of your
<br />grandson. S1235R. You won't find much on it. It's rare and not many have it. In my daughters case I can tell you this.
<br />Her's started all gut. She was listed failure to thrive etc. I had three sweat test done on her because I was one of those that kept saying there must be some mistake. No way can she have CF. Not in our family history. Each time she was positive
<br />on the test. She is 16 years old and is a junior now in high school. Her lungs and sinus were fine until 3 years ago. She does everything her doctors tell her to do to keep her health in check. She knows weight plays a big part in her health. She is a size 0. She is well educated about her health and she does the talking with the doctors when it comes to her health care. I have found it is better to in power her then to keep her in the dark. She is making plans for her future and plans to live a long life. She just happens to be a 16 year old with CF.
<br />
<br />I hope he stays healthy for a very long time. There is a lot
<br />of research going on. Make sure he is at a good CF center and
<br />that his parents ask lots and lots of questions. The more you know the better.
<br />
<br />You can PM anytime.
 
G

Gramma58

Guest
I thank all of you for replying. I am overwhelmed by the stories I read here, and I am thankful for both my grandson's good health at this time and the hope I hear in everyone's stories. I pray for us all. One thing is clear--although I do read that some people have a family history, and were sort of "expecting this", most of us were completely stunned and were positive that this was some mistake.
I am still wanting to learn what, if anything, it means that my grandson has 3 mutations, not 2. I haven't read anything about that. I have read just about the entire internet!
He is due to go to his CF specialist this month, and I hope that she has a good report for us. So far, he is healthier than just about all other babies his age. Big, fat, and happy. He is associated with a top notch medical school/medical center, so I am sure his care will be excellent.
 
G

Gramma58

Guest
I thank all of you for replying. I am overwhelmed by the stories I read here, and I am thankful for both my grandson's good health at this time and the hope I hear in everyone's stories. I pray for us all. One thing is clear--although I do read that some people have a family history, and were sort of "expecting this", most of us were completely stunned and were positive that this was some mistake.
I am still wanting to learn what, if anything, it means that my grandson has 3 mutations, not 2. I haven't read anything about that. I have read just about the entire internet!
He is due to go to his CF specialist this month, and I hope that she has a good report for us. So far, he is healthier than just about all other babies his age. Big, fat, and happy. He is associated with a top notch medical school/medical center, so I am sure his care will be excellent.
 
G

Gramma58

Guest
I thank all of you for replying. I am overwhelmed by the stories I read here, and I am thankful for both my grandson's good health at this time and the hope I hear in everyone's stories. I pray for us all. One thing is clear--although I do read that some people have a family history, and were sort of "expecting this", most of us were completely stunned and were positive that this was some mistake.
I am still wanting to learn what, if anything, it means that my grandson has 3 mutations, not 2. I haven't read anything about that. I have read just about the entire internet!
He is due to go to his CF specialist this month, and I hope that she has a good report for us. So far, he is healthier than just about all other babies his age. Big, fat, and happy. He is associated with a top notch medical school/medical center, so I am sure his care will be excellent.
 
G

Gramma58

Guest
I thank all of you for replying. I am overwhelmed by the stories I read here, and I am thankful for both my grandson's good health at this time and the hope I hear in everyone's stories. I pray for us all. One thing is clear--although I do read that some people have a family history, and were sort of "expecting this", most of us were completely stunned and were positive that this was some mistake.
I am still wanting to learn what, if anything, it means that my grandson has 3 mutations, not 2. I haven't read anything about that. I have read just about the entire internet!
He is due to go to his CF specialist this month, and I hope that she has a good report for us. So far, he is healthier than just about all other babies his age. Big, fat, and happy. He is associated with a top notch medical school/medical center, so I am sure his care will be excellent.
 
G

Gramma58

Guest
I thank all of you for replying. I am overwhelmed by the stories I read here, and I am thankful for both my grandson's good health at this time and the hope I hear in everyone's stories. I pray for us all. One thing is clear--although I do read that some people have a family history, and were sort of "expecting this", most of us were completely stunned and were positive that this was some mistake.
<br />I am still wanting to learn what, if anything, it means that my grandson has 3 mutations, not 2. I haven't read anything about that. I have read just about the entire internet!
<br />He is due to go to his CF specialist this month, and I hope that she has a good report for us. So far, he is healthier than just about all other babies his age. Big, fat, and happy. He is associated with a top notch medical school/medical center, so I am sure his care will be excellent.
 
S

shica4u

New member
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier.
Everyone just has two CFTR genes, as long as one of the genes has only a mild mutation (like R117H) there is a good chance of there being mild to no disease.
Complex mutations are becoming more common because all the research going on in CFTR mutations, the more we look for the more we'll find!
I hope everyone is still doing well
 
S

shica4u

New member
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier.
Everyone just has two CFTR genes, as long as one of the genes has only a mild mutation (like R117H) there is a good chance of there being mild to no disease.
Complex mutations are becoming more common because all the research going on in CFTR mutations, the more we look for the more we'll find!
I hope everyone is still doing well
 
S

shica4u

New member
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier.
<br />Everyone just has two CFTR genes, as long as one of the genes has only a mild mutation (like R117H) there is a good chance of there being mild to no disease.
<br />Complex mutations are becoming more common because all the research going on in CFTR mutations, the more we look for the more we'll find!
<br />I hope everyone is still doing well
 
G

Gramma58

Guest
Thanks for replying, it's never too late to get more information. He is still doing completely fine, goes to mother's morning out classes twice a week, has no symptoms of any kind. We are so encouraged and hopeful that he will stay that way. I will always want anyone with info on this gene combination, or any individual gene, to update me. Thanks, Kathy
 
G

Gramma58

Guest
Thanks for replying, it's never too late to get more information. He is still doing completely fine, goes to mother's morning out classes twice a week, has no symptoms of any kind. We are so encouraged and hopeful that he will stay that way. I will always want anyone with info on this gene combination, or any individual gene, to update me. Thanks, Kathy
 
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