mutation info

[cherishthree]

Would any body have info on this mutation Ivs8 5t. Two of my children have two copies of this IVS8 5t/Ivs8 5t. At first they called it atypical Cf. But since have been put in the full Cf category. When we first started going to the clinic they said it would present mildly with no pancreas problems , most likely just sinus issues. But my youngest they recentelly put her on enzymes creon 10 and she has been hospitalized with mrsa and staph aureus in lungs. And she is off the charts with weight and height at 39 pounds and is almost 8 years old. My son who is 11 is fine weight wise just sinus like they said and mild lung disease. Both use the vest and take pulmozyme and albuteral 4 times aday. When i google two copies of this Ivs8 5t. They just show vans defrens issues? Just wondering what to expect with this mutation since only 1% of the population carries this it is hard to get info. Thanks for any help!!

 

[cherishthree]

Would any body have info on this mutation Ivs8 5t. Two of my children have two copies of this IVS8 5t/Ivs8 5t. At first they called it atypical Cf. But since have been put in the full Cf category. When we first started going to the clinic they said it would present mildly with no pancreas problems , most likely just sinus issues. But my youngest they recentelly put her on enzymes creon 10 and she has been hospitalized with mrsa and staph aureus in lungs. And she is off the charts with weight and height at 39 pounds and is almost 8 years old. My son who is 11 is fine weight wise just sinus like they said and mild lung disease. Both use the vest and take pulmozyme and albuteral 4 times aday. When i google two copies of this Ivs8 5t. They just show vans defrens issues? Just wondering what to expect with this mutation since only 1% of the population carries this it is hard to get info. Thanks for any help!!

 

[cherishthree]

Would any body have info on this mutation Ivs8 5t. Two of my children have two copies of this IVS8 5t/Ivs8 5t. At first they called it atypical Cf. But since have been put in the full Cf category. When we first started going to the clinic they said it would present mildly with no pancreas problems , most likely just sinus issues. But my youngest they recentelly put her on enzymes creon 10 and she has been hospitalized with mrsa and staph aureus in lungs. And she is off the charts with weight and height at 39 pounds and is almost 8 years old. My son who is 11 is fine weight wise just sinus like they said and mild lung disease. Both use the vest and take pulmozyme and albuteral 4 times aday. When i google two copies of this Ivs8 5t. They just show vans defrens issues? Just wondering what to expect with this mutation since only 1% of the population carries this it is hard to get info. Thanks for any help!!

 

[cherishthree]

Would any body have info on this mutation Ivs8 5t. Two of my children have two copies of this IVS8 5t/Ivs8 5t. At first they called it atypical Cf. But since have been put in the full Cf category. When we first started going to the clinic they said it would present mildly with no pancreas problems , most likely just sinus issues. But my youngest they recentelly put her on enzymes creon 10 and she has been hospitalized with mrsa and staph aureus in lungs. And she is off the charts with weight and height at 39 pounds and is almost 8 years old. My son who is 11 is fine weight wise just sinus like they said and mild lung disease. Both use the vest and take pulmozyme and albuteral 4 times aday. When i google two copies of this Ivs8 5t. They just show vans defrens issues? Just wondering what to expect with this mutation since only 1% of the population carries this it is hard to get info. Thanks for any help!!

 

[cherishthree]

Would any body have info on this mutation Ivs8 5t. Two of my children have two copies of this IVS8 5t/Ivs8 5t. At first they called it atypical Cf. But since have been put in the full Cf category. When we first started going to the clinic they said it would present mildly with no pancreas problems , most likely just sinus issues. But my youngest they recentelly put her on enzymes creon 10 and she has been hospitalized with mrsa and staph aureus in lungs. And she is off the charts with weight and height at 39 pounds and is almost 8 years old. My son who is 11 is fine weight wise just sinus like they said and mild lung disease. Both use the vest and take pulmozyme and albuteral 4 times aday. When i google two copies of this Ivs8 5t. They just show vans defrens issues? Just wondering what to expect with this mutation since only 1% of the population carries this it is hard to get info. Thanks for any help!!

 

[Alyssa]

Sorry to say that you have just described exactly why it is so hard to say what will happen with CF, based on gene types only. Doctor's and parents try to use it as some sort of a guideline but you just never know what will happen for sure because so many other things factor into it. There was a Nova special that someone posted about here a while back called something like "Ghost in our genes" it was very good, explaining about how they are discovering more about epi-genetics and how they play a larger part in what happens to a persons health (not specifically CF, but all health problems in general) If you can get a copy of that show it is pretty interesting. Here is a website that talks about epigenome stuff - very similar to the Nova show.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.wired.com/medtech/health/news/2005/08/68468
">http://www.wired.com/medtech/health/news/2005/08/68468
</a>
I wish I had better info for you - I know it's hard to find specific information that tells you much. Sounds like your doctors are on top of things and giving the best standard of care possible.

Best wishes

 

[Alyssa]

Sorry to say that you have just described exactly why it is so hard to say what will happen with CF, based on gene types only. Doctor's and parents try to use it as some sort of a guideline but you just never know what will happen for sure because so many other things factor into it. There was a Nova special that someone posted about here a while back called something like "Ghost in our genes" it was very good, explaining about how they are discovering more about epi-genetics and how they play a larger part in what happens to a persons health (not specifically CF, but all health problems in general) If you can get a copy of that show it is pretty interesting. Here is a website that talks about epigenome stuff - very similar to the Nova show.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.wired.com/medtech/health/news/2005/08/68468
">http://www.wired.com/medtech/health/news/2005/08/68468
</a>
I wish I had better info for you - I know it's hard to find specific information that tells you much. Sounds like your doctors are on top of things and giving the best standard of care possible.

Best wishes

 

[Alyssa]

Sorry to say that you have just described exactly why it is so hard to say what will happen with CF, based on gene types only. Doctor's and parents try to use it as some sort of a guideline but you just never know what will happen for sure because so many other things factor into it. There was a Nova special that someone posted about here a while back called something like "Ghost in our genes" it was very good, explaining about how they are discovering more about epi-genetics and how they play a larger part in what happens to a persons health (not specifically CF, but all health problems in general) If you can get a copy of that show it is pretty interesting. Here is a website that talks about epigenome stuff - very similar to the Nova show.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.wired.com/medtech/health/news/2005/08/68468
">http://www.wired.com/medtech/health/news/2005/08/68468
</a>
I wish I had better info for you - I know it's hard to find specific information that tells you much. Sounds like your doctors are on top of things and giving the best standard of care possible.

Best wishes

 

[Alyssa]

Sorry to say that you have just described exactly why it is so hard to say what will happen with CF, based on gene types only. Doctor's and parents try to use it as some sort of a guideline but you just never know what will happen for sure because so many other things factor into it. There was a Nova special that someone posted about here a while back called something like "Ghost in our genes" it was very good, explaining about how they are discovering more about epi-genetics and how they play a larger part in what happens to a persons health (not specifically CF, but all health problems in general) If you can get a copy of that show it is pretty interesting. Here is a website that talks about epigenome stuff - very similar to the Nova show.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.wired.com/medtech/health/news/2005/08/68468
">http://www.wired.com/medtech/health/news/2005/08/68468
</a>
I wish I had better info for you - I know it's hard to find specific information that tells you much. Sounds like your doctors are on top of things and giving the best standard of care possible.

Best wishes

 

[Alyssa]

Sorry to say that you have just described exactly why it is so hard to say what will happen with CF, based on gene types only. Doctor's and parents try to use it as some sort of a guideline but you just never know what will happen for sure because so many other things factor into it. There was a Nova special that someone posted about here a while back called something like "Ghost in our genes" it was very good, explaining about how they are discovering more about epi-genetics and how they play a larger part in what happens to a persons health (not specifically CF, but all health problems in general) If you can get a copy of that show it is pretty interesting. Here is a website that talks about epigenome stuff - very similar to the Nova show.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.wired.com/medtech/health/news/2005/08/68468
">http://www.wired.com/medtech/health/news/2005/08/68468
</a>
I wish I had better info for you - I know it's hard to find specific information that tells you much. Sounds like your doctors are on top of things and giving the best standard of care possible.

Best wishes

 

[Alyssa]

I went to the Nova website and found more information than I expected there! I haven't spent much time yet to see if there is more, but here is what I found so far -- two videos you can watch online that are specific to CF!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_09.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_09.html
</a>
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_10.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_10.html
</a>
You can also see some info on the Ghost in your genes that I was talking about at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genes/issa.html">http://www.pbs.org/wgbh/nova/genes/issa.html</a>

 

[Alyssa]

I went to the Nova website and found more information than I expected there! I haven't spent much time yet to see if there is more, but here is what I found so far -- two videos you can watch online that are specific to CF!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_09.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_09.html
</a>
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_10.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_10.html
</a>
You can also see some info on the Ghost in your genes that I was talking about at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genes/issa.html">http://www.pbs.org/wgbh/nova/genes/issa.html</a>

 

[Alyssa]

I went to the Nova website and found more information than I expected there! I haven't spent much time yet to see if there is more, but here is what I found so far -- two videos you can watch online that are specific to CF!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_09.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_09.html
</a>
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_10.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_10.html
</a>
You can also see some info on the Ghost in your genes that I was talking about at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genes/issa.html">http://www.pbs.org/wgbh/nova/genes/issa.html</a>

 

[Alyssa]

I went to the Nova website and found more information than I expected there! I haven't spent much time yet to see if there is more, but here is what I found so far -- two videos you can watch online that are specific to CF!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_09.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_09.html
</a>
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_10.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_10.html
</a>
You can also see some info on the Ghost in your genes that I was talking about at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genes/issa.html">http://www.pbs.org/wgbh/nova/genes/issa.html</a>

 

[Alyssa]

I went to the Nova website and found more information than I expected there! I haven't spent much time yet to see if there is more, but here is what I found so far -- two videos you can watch online that are specific to CF!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_09.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_09.html
</a>
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genome/media/2809_q_10.html
">http://www.pbs.org/wgbh/nova/g.../media/2809_q_10.html
</a>
You can also see some info on the Ghost in your genes that I was talking about at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pbs.org/wgbh/nova/genes/issa.html">http://www.pbs.org/wgbh/nova/genes/issa.html</a>