Laras results

[larasmommy]

Hi Everyone


I got the results of Laras genetic testing today.Her Dr. says she has Atypical CF, her 1 mutation is, she said, very rare R75Q cftr variant; I cant remember the other one, which she said is common, I have an appt with the CF team on Thurs.8/15. She is going to do tests to see if the pancreas is involved and a sputnum culture to see if she is harboring any PA's. If any one has any advice on what I should expect that day or about the R75Q, I would appreciate it.


I am Devasted.


Marie

 

[larasmommy]

Hi Everyone


I got the results of Laras genetic testing today.Her Dr. says she has Atypical CF, her 1 mutation is, she said, very rare R75Q cftr variant; I cant remember the other one, which she said is common, I have an appt with the CF team on Thurs.8/15. She is going to do tests to see if the pancreas is involved and a sputnum culture to see if she is harboring any PA's. If any one has any advice on what I should expect that day or about the R75Q, I would appreciate it.


I am Devasted.


Marie

 

[larasmommy]

Hi Everyone


I got the results of Laras genetic testing today.Her Dr. says she has Atypical CF, her 1 mutation is, she said, very rare R75Q cftr variant; I cant remember the other one, which she said is common, I have an appt with the CF team on Thurs.8/15. She is going to do tests to see if the pancreas is involved and a sputnum culture to see if she is harboring any PA's. If any one has any advice on what I should expect that day or about the R75Q, I would appreciate it.


I am Devasted.


Marie

 

[larasmommy]

Hi Everyone


I got the results of Laras genetic testing today.Her Dr. says she has Atypical CF, her 1 mutation is, she said, very rare R75Q cftr variant; I cant remember the other one, which she said is common, I have an appt with the CF team on Thurs.8/15. She is going to do tests to see if the pancreas is involved and a sputnum culture to see if she is harboring any PA's. If any one has any advice on what I should expect that day or about the R75Q, I would appreciate it.


I am Devasted.


Marie

 

[larasmommy]

Hi Everyone


I got the results of Laras genetic testing today.Her Dr. says she has Atypical CF, her 1 mutation is, she said, very rare R75Q cftr variant; I cant remember the other one, which she said is common, I have an appt with the CF team on Thurs.8/15. She is going to do tests to see if the pancreas is involved and a sputnum culture to see if she is harboring any PA's. If any one has any advice on what I should expect that day or about the R75Q, I would appreciate it.


I am Devasted.


Marie

 

[Mommafirst]

Hi Marie.

I am so sorry to hear that Lara has been diagnosed afterall. I remember the shot to the gut it was to hear those words about my daughter, Alyssa.

Alyssa has one very rare mutation (only 6 people ever diagnosed with it) and a more common one. I was really caught up on this fact in the beginning. It made me feel like there was a much greater sense of hope, and that maybe her CF wouldn't be "real" CF. I have since come to terms with two facts...1. the mutation combinations don't necessarily have much to do with the way CF plays out and 2. CF is CF, if you are diagnosed with it and have to do all the preventative treatment for it, you are living the CF life regardless of how quickly the symptoms progress.

BUT, that being said, there are lots of reasons to maintain your sense of hope here. Better medicines and treatments continue to be found and the future for our children being diagnosed today is profoundly better than the outlook was twenty years ago.

The first CF team meeting can be quite overwhelming. Take a notebook and a partner with you. You will be meeting with so many people: pulmonologist, GI, respiratory therapist (or physical therapist), nutritionist, geneticist, and social worker. Pull your head together as best you can, but they will help you through the process.

I did a quick search on the r75q sequence variation for you. The results are <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1004">here.</a>

If you hit the link to the PubMed articles it will show you that there have been many articles published regarding r75q. I am suspecting its not as rare as you have been told. My daughter's rare mutation has NO articles published on it.

Anyway, I did a quick scan of the articles and it seems like there seems to be a relationship to this mutation and folks who develop COPD (Chronic Obstructive Pulmonary Disorders). I'm not exactly sure what that means to your daughter, but my guess is that it would make them anticipate lung involvement. I would imagine that starting Chest Physical Therapy would probably be primary on your approach here.

Surely there are others around here that have a better understanding of this all than I. But I wanted to jump in and let you know that you aren't alone in all of this. Hang in there!!!

 

[Mommafirst]

Hi Marie.

I am so sorry to hear that Lara has been diagnosed afterall. I remember the shot to the gut it was to hear those words about my daughter, Alyssa.

Alyssa has one very rare mutation (only 6 people ever diagnosed with it) and a more common one. I was really caught up on this fact in the beginning. It made me feel like there was a much greater sense of hope, and that maybe her CF wouldn't be "real" CF. I have since come to terms with two facts...1. the mutation combinations don't necessarily have much to do with the way CF plays out and 2. CF is CF, if you are diagnosed with it and have to do all the preventative treatment for it, you are living the CF life regardless of how quickly the symptoms progress.

BUT, that being said, there are lots of reasons to maintain your sense of hope here. Better medicines and treatments continue to be found and the future for our children being diagnosed today is profoundly better than the outlook was twenty years ago.

The first CF team meeting can be quite overwhelming. Take a notebook and a partner with you. You will be meeting with so many people: pulmonologist, GI, respiratory therapist (or physical therapist), nutritionist, geneticist, and social worker. Pull your head together as best you can, but they will help you through the process.

I did a quick search on the r75q sequence variation for you. The results are <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1004">here.</a>

If you hit the link to the PubMed articles it will show you that there have been many articles published regarding r75q. I am suspecting its not as rare as you have been told. My daughter's rare mutation has NO articles published on it.

Anyway, I did a quick scan of the articles and it seems like there seems to be a relationship to this mutation and folks who develop COPD (Chronic Obstructive Pulmonary Disorders). I'm not exactly sure what that means to your daughter, but my guess is that it would make them anticipate lung involvement. I would imagine that starting Chest Physical Therapy would probably be primary on your approach here.

Surely there are others around here that have a better understanding of this all than I. But I wanted to jump in and let you know that you aren't alone in all of this. Hang in there!!!

 

[Mommafirst]

Hi Marie.

I am so sorry to hear that Lara has been diagnosed afterall. I remember the shot to the gut it was to hear those words about my daughter, Alyssa.

Alyssa has one very rare mutation (only 6 people ever diagnosed with it) and a more common one. I was really caught up on this fact in the beginning. It made me feel like there was a much greater sense of hope, and that maybe her CF wouldn't be "real" CF. I have since come to terms with two facts...1. the mutation combinations don't necessarily have much to do with the way CF plays out and 2. CF is CF, if you are diagnosed with it and have to do all the preventative treatment for it, you are living the CF life regardless of how quickly the symptoms progress.

BUT, that being said, there are lots of reasons to maintain your sense of hope here. Better medicines and treatments continue to be found and the future for our children being diagnosed today is profoundly better than the outlook was twenty years ago.

The first CF team meeting can be quite overwhelming. Take a notebook and a partner with you. You will be meeting with so many people: pulmonologist, GI, respiratory therapist (or physical therapist), nutritionist, geneticist, and social worker. Pull your head together as best you can, but they will help you through the process.

I did a quick search on the r75q sequence variation for you. The results are <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1004">here.</a>

If you hit the link to the PubMed articles it will show you that there have been many articles published regarding r75q. I am suspecting its not as rare as you have been told. My daughter's rare mutation has NO articles published on it.

Anyway, I did a quick scan of the articles and it seems like there seems to be a relationship to this mutation and folks who develop COPD (Chronic Obstructive Pulmonary Disorders). I'm not exactly sure what that means to your daughter, but my guess is that it would make them anticipate lung involvement. I would imagine that starting Chest Physical Therapy would probably be primary on your approach here.

Surely there are others around here that have a better understanding of this all than I. But I wanted to jump in and let you know that you aren't alone in all of this. Hang in there!!!

 

[Mommafirst]

Hi Marie.

I am so sorry to hear that Lara has been diagnosed afterall. I remember the shot to the gut it was to hear those words about my daughter, Alyssa.

Alyssa has one very rare mutation (only 6 people ever diagnosed with it) and a more common one. I was really caught up on this fact in the beginning. It made me feel like there was a much greater sense of hope, and that maybe her CF wouldn't be "real" CF. I have since come to terms with two facts...1. the mutation combinations don't necessarily have much to do with the way CF plays out and 2. CF is CF, if you are diagnosed with it and have to do all the preventative treatment for it, you are living the CF life regardless of how quickly the symptoms progress.

BUT, that being said, there are lots of reasons to maintain your sense of hope here. Better medicines and treatments continue to be found and the future for our children being diagnosed today is profoundly better than the outlook was twenty years ago.

The first CF team meeting can be quite overwhelming. Take a notebook and a partner with you. You will be meeting with so many people: pulmonologist, GI, respiratory therapist (or physical therapist), nutritionist, geneticist, and social worker. Pull your head together as best you can, but they will help you through the process.

I did a quick search on the r75q sequence variation for you. The results are <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1004">here.</a>

If you hit the link to the PubMed articles it will show you that there have been many articles published regarding r75q. I am suspecting its not as rare as you have been told. My daughter's rare mutation has NO articles published on it.

Anyway, I did a quick scan of the articles and it seems like there seems to be a relationship to this mutation and folks who develop COPD (Chronic Obstructive Pulmonary Disorders). I'm not exactly sure what that means to your daughter, but my guess is that it would make them anticipate lung involvement. I would imagine that starting Chest Physical Therapy would probably be primary on your approach here.

Surely there are others around here that have a better understanding of this all than I. But I wanted to jump in and let you know that you aren't alone in all of this. Hang in there!!!

 

[Mommafirst]

Hi Marie.

I am so sorry to hear that Lara has been diagnosed afterall. I remember the shot to the gut it was to hear those words about my daughter, Alyssa.

Alyssa has one very rare mutation (only 6 people ever diagnosed with it) and a more common one. I was really caught up on this fact in the beginning. It made me feel like there was a much greater sense of hope, and that maybe her CF wouldn't be "real" CF. I have since come to terms with two facts...1. the mutation combinations don't necessarily have much to do with the way CF plays out and 2. CF is CF, if you are diagnosed with it and have to do all the preventative treatment for it, you are living the CF life regardless of how quickly the symptoms progress.

BUT, that being said, there are lots of reasons to maintain your sense of hope here. Better medicines and treatments continue to be found and the future for our children being diagnosed today is profoundly better than the outlook was twenty years ago.

The first CF team meeting can be quite overwhelming. Take a notebook and a partner with you. You will be meeting with so many people: pulmonologist, GI, respiratory therapist (or physical therapist), nutritionist, geneticist, and social worker. Pull your head together as best you can, but they will help you through the process.

I did a quick search on the r75q sequence variation for you. The results are <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1004">here.</a>

If you hit the link to the PubMed articles it will show you that there have been many articles published regarding r75q. I am suspecting its not as rare as you have been told. My daughter's rare mutation has NO articles published on it.

Anyway, I did a quick scan of the articles and it seems like there seems to be a relationship to this mutation and folks who develop COPD (Chronic Obstructive Pulmonary Disorders). I'm not exactly sure what that means to your daughter, but my guess is that it would make them anticipate lung involvement. I would imagine that starting Chest Physical Therapy would probably be primary on your approach here.

Surely there are others around here that have a better understanding of this all than I. But I wanted to jump in and let you know that you aren't alone in all of this. Hang in there!!!

 

[JORDYSMOM]

Marie

I know how hard it is to get that news. Once you get over the shock of it all, try to realize that at least now you can give her the proper treatments. This disease is so tricky. Just because she has certain mutations doesn't mean she will have certain symptoms or clinical outcome. Each person is different. Even twins have different clinical outcomes.

Knowledge is power. Educate yourself as much as possible. Always be proactive with this disease. We have to stay a step ahead of it if we can. I wish I had some divine wisdom for you, but there is none. Just know the members of this site are here for you.

Stacey

 

[JORDYSMOM]

Marie

I know how hard it is to get that news. Once you get over the shock of it all, try to realize that at least now you can give her the proper treatments. This disease is so tricky. Just because she has certain mutations doesn't mean she will have certain symptoms or clinical outcome. Each person is different. Even twins have different clinical outcomes.

Knowledge is power. Educate yourself as much as possible. Always be proactive with this disease. We have to stay a step ahead of it if we can. I wish I had some divine wisdom for you, but there is none. Just know the members of this site are here for you.

Stacey

 

[JORDYSMOM]

Marie

I know how hard it is to get that news. Once you get over the shock of it all, try to realize that at least now you can give her the proper treatments. This disease is so tricky. Just because she has certain mutations doesn't mean she will have certain symptoms or clinical outcome. Each person is different. Even twins have different clinical outcomes.

Knowledge is power. Educate yourself as much as possible. Always be proactive with this disease. We have to stay a step ahead of it if we can. I wish I had some divine wisdom for you, but there is none. Just know the members of this site are here for you.

Stacey

 

[JORDYSMOM]

Marie

I know how hard it is to get that news. Once you get over the shock of it all, try to realize that at least now you can give her the proper treatments. This disease is so tricky. Just because she has certain mutations doesn't mean she will have certain symptoms or clinical outcome. Each person is different. Even twins have different clinical outcomes.

Knowledge is power. Educate yourself as much as possible. Always be proactive with this disease. We have to stay a step ahead of it if we can. I wish I had some divine wisdom for you, but there is none. Just know the members of this site are here for you.

Stacey

 

[JORDYSMOM]

Marie

I know how hard it is to get that news. Once you get over the shock of it all, try to realize that at least now you can give her the proper treatments. This disease is so tricky. Just because she has certain mutations doesn't mean she will have certain symptoms or clinical outcome. Each person is different. Even twins have different clinical outcomes.

Knowledge is power. Educate yourself as much as possible. Always be proactive with this disease. We have to stay a step ahead of it if we can. I wish I had some divine wisdom for you, but there is none. Just know the members of this site are here for you.

Stacey

 

[JazzysMom]

HUGS to you. I am sorry that it was a confirmed CF dx, but now you can make sure she gets proper treatment.

 

[JazzysMom]

HUGS to you. I am sorry that it was a confirmed CF dx, but now you can make sure she gets proper treatment.

 

[JazzysMom]

HUGS to you. I am sorry that it was a confirmed CF dx, but now you can make sure she gets proper treatment.

 

[JazzysMom]

HUGS to you. I am sorry that it was a confirmed CF dx, but now you can make sure she gets proper treatment.

 

[JazzysMom]

HUGS to you. I am sorry that it was a confirmed CF dx, but now you can make sure she gets proper treatment.