Very confused

A

amyr

New member
My sons genetic testing came back with two copies of the same mutation (a very rare one I was told). The Dr. has already been treating him as if it is cf b/c he has several symptoms. He wants us to go to Hopkins B/C he has never seen two of these copies together before. I was also told on another thread that this mutation M470v may not even be disease causing. I have e mailed Steve but am in the meantime jumping out of my skin.

Can you have cf with two copies of the same mutation or does it have to be two different mutations. Has anyone here been in this situation? His sweat test was 49 and he has low fecal elastase #'s. He has all the resp. and sinus issues too. I would love any imput. Thanks.
 
A

amyr

New member
My sons genetic testing came back with two copies of the same mutation (a very rare one I was told). The Dr. has already been treating him as if it is cf b/c he has several symptoms. He wants us to go to Hopkins B/C he has never seen two of these copies together before. I was also told on another thread that this mutation M470v may not even be disease causing. I have e mailed Steve but am in the meantime jumping out of my skin.

Can you have cf with two copies of the same mutation or does it have to be two different mutations. Has anyone here been in this situation? His sweat test was 49 and he has low fecal elastase #'s. He has all the resp. and sinus issues too. I would love any imput. Thanks.
 
A

amyr

New member
My sons genetic testing came back with two copies of the same mutation (a very rare one I was told). The Dr. has already been treating him as if it is cf b/c he has several symptoms. He wants us to go to Hopkins B/C he has never seen two of these copies together before. I was also told on another thread that this mutation M470v may not even be disease causing. I have e mailed Steve but am in the meantime jumping out of my skin.

Can you have cf with two copies of the same mutation or does it have to be two different mutations. Has anyone here been in this situation? His sweat test was 49 and he has low fecal elastase #'s. He has all the resp. and sinus issues too. I would love any imput. Thanks.
 
A

amyr

New member
My sons genetic testing came back with two copies of the same mutation (a very rare one I was told). The Dr. has already been treating him as if it is cf b/c he has several symptoms. He wants us to go to Hopkins B/C he has never seen two of these copies together before. I was also told on another thread that this mutation M470v may not even be disease causing. I have e mailed Steve but am in the meantime jumping out of my skin.

Can you have cf with two copies of the same mutation or does it have to be two different mutations. Has anyone here been in this situation? His sweat test was 49 and he has low fecal elastase #'s. He has all the resp. and sinus issues too. I would love any imput. Thanks.
 
A

amyr

New member
My sons genetic testing came back with two copies of the same mutation (a very rare one I was told). The Dr. has already been treating him as if it is cf b/c he has several symptoms. He wants us to go to Hopkins B/C he has never seen two of these copies together before. I was also told on another thread that this mutation M470v may not even be disease causing. I have e mailed Steve but am in the meantime jumping out of my skin.
<br />
<br />Can you have cf with two copies of the same mutation or does it have to be two different mutations. Has anyone here been in this situation? His sweat test was 49 and he has low fecal elastase #'s. He has all the resp. and sinus issues too. I would love any imput. Thanks.
 
C

CFHockeyMom

New member
Two CF mutations = CF. There are many people on the forum here with two copies of DF508.

Your son's M407V does appear to be rare but that by no means indicates the severity. M407V is considered a missense mutation. These can problematical in that they may only partially affect CFTR function. It is thought that disease severity is somehow linked to the level of function of the CFTR protien. Your son definitely has classic CF symptoms but that doesn't mean anything in the long term.

A lot of parents on newly diagnosed CFers want to know what the future will hold for their CFer. Genes can give some insight but do not hold the answer. We have many people on here (even siblings) with the same mutations and completely different clinical outcomes. Treatment, compliance, environment, and luck all play a very large part in clinical outcome.

Now that you have your diagnosis, treat your child's CF aggresively and proactively. That is really the only you can do to help insure a longer and healthier life.
 
C

CFHockeyMom

New member
Two CF mutations = CF. There are many people on the forum here with two copies of DF508.

Your son's M407V does appear to be rare but that by no means indicates the severity. M407V is considered a missense mutation. These can problematical in that they may only partially affect CFTR function. It is thought that disease severity is somehow linked to the level of function of the CFTR protien. Your son definitely has classic CF symptoms but that doesn't mean anything in the long term.

A lot of parents on newly diagnosed CFers want to know what the future will hold for their CFer. Genes can give some insight but do not hold the answer. We have many people on here (even siblings) with the same mutations and completely different clinical outcomes. Treatment, compliance, environment, and luck all play a very large part in clinical outcome.

Now that you have your diagnosis, treat your child's CF aggresively and proactively. That is really the only you can do to help insure a longer and healthier life.
 
C

CFHockeyMom

New member
Two CF mutations = CF. There are many people on the forum here with two copies of DF508.

Your son's M407V does appear to be rare but that by no means indicates the severity. M407V is considered a missense mutation. These can problematical in that they may only partially affect CFTR function. It is thought that disease severity is somehow linked to the level of function of the CFTR protien. Your son definitely has classic CF symptoms but that doesn't mean anything in the long term.

A lot of parents on newly diagnosed CFers want to know what the future will hold for their CFer. Genes can give some insight but do not hold the answer. We have many people on here (even siblings) with the same mutations and completely different clinical outcomes. Treatment, compliance, environment, and luck all play a very large part in clinical outcome.

Now that you have your diagnosis, treat your child's CF aggresively and proactively. That is really the only you can do to help insure a longer and healthier life.
 
C

CFHockeyMom

New member
Two CF mutations = CF. There are many people on the forum here with two copies of DF508.

Your son's M407V does appear to be rare but that by no means indicates the severity. M407V is considered a missense mutation. These can problematical in that they may only partially affect CFTR function. It is thought that disease severity is somehow linked to the level of function of the CFTR protien. Your son definitely has classic CF symptoms but that doesn't mean anything in the long term.

A lot of parents on newly diagnosed CFers want to know what the future will hold for their CFer. Genes can give some insight but do not hold the answer. We have many people on here (even siblings) with the same mutations and completely different clinical outcomes. Treatment, compliance, environment, and luck all play a very large part in clinical outcome.

Now that you have your diagnosis, treat your child's CF aggresively and proactively. That is really the only you can do to help insure a longer and healthier life.
 
C

CFHockeyMom

New member
Two CF mutations = CF. There are many people on the forum here with two copies of DF508.
<br />
<br />Your son's M407V does appear to be rare but that by no means indicates the severity. M407V is considered a missense mutation. These can problematical in that they may only partially affect CFTR function. It is thought that disease severity is somehow linked to the level of function of the CFTR protien. Your son definitely has classic CF symptoms but that doesn't mean anything in the long term.
<br />
<br />A lot of parents on newly diagnosed CFers want to know what the future will hold for their CFer. Genes can give some insight but do not hold the answer. We have many people on here (even siblings) with the same mutations and completely different clinical outcomes. Treatment, compliance, environment, and luck all play a very large part in clinical outcome.
<br />
<br />Now that you have your diagnosis, treat your child's CF aggresively and proactively. That is really the only you can do to help insure a longer and healthier life.
 
N

NoExcuses

New member
agree with claudette 1000000000%

time to be proactive & agressive.

offense is the only way to go with CF - defense simply doesn't cut it

best of luck!
 
N

NoExcuses

New member
agree with claudette 1000000000%

time to be proactive & agressive.

offense is the only way to go with CF - defense simply doesn't cut it

best of luck!
 
N

NoExcuses

New member
agree with claudette 1000000000%

time to be proactive & agressive.

offense is the only way to go with CF - defense simply doesn't cut it

best of luck!
 
N

NoExcuses

New member
agree with claudette 1000000000%

time to be proactive & agressive.

offense is the only way to go with CF - defense simply doesn't cut it

best of luck!
 
N

NoExcuses

New member
agree with claudette 1000000000%
<br />
<br />time to be proactive & agressive.
<br />
<br />offense is the only way to go with CF - defense simply doesn't cut it
<br />
<br />best of luck!
 
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