Update on Cash

M

momofcash

Guest
We just heard from Children's and they did find two more mutations. It has been a very long road and I had actually started to believe it might not be CF. I am just numb right now. I was trying to find a good site to research the mutations that he does have. We won't be meeting with the pulmonologist until Thursday. If anyone has a recommendation I would appreciate it.
 
M

momofcash

Guest
We just heard from Children's and they did find two more mutations. It has been a very long road and I had actually started to believe it might not be CF. I am just numb right now. I was trying to find a good site to research the mutations that he does have. We won't be meeting with the pulmonologist until Thursday. If anyone has a recommendation I would appreciate it.
 
M

momofcash

Guest
We just heard from Children's and they did find two more mutations. It has been a very long road and I had actually started to believe it might not be CF. I am just numb right now. I was trying to find a good site to research the mutations that he does have. We won't be meeting with the pulmonologist until Thursday. If anyone has a recommendation I would appreciate it.
 
J

JazzysMom

New member
I am so sorry, but better to know and treat now. Here is a link that talks about mutations that should address most of your ?? on it.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis">http://www.genetests.org/servl...#DifferentialDiagnosis</a>
 
J

JazzysMom

New member
I am so sorry, but better to know and treat now. Here is a link that talks about mutations that should address most of your ?? on it.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis">http://www.genetests.org/servl...#DifferentialDiagnosis</a>
 
J

JazzysMom

New member
I am so sorry, but better to know and treat now. Here is a link that talks about mutations that should address most of your ?? on it.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis">http://www.genetests.org/servl...#DifferentialDiagnosis</a>
 
L

LisaV

New member
OMIM ( <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM</a> ) is the scientific "bible" for genetic mutations. Not easy to use. Sometimes more than you want to know. But where the docs go for the summary info.

Goodluck.
If it's not CF and you don't mind sharing. I'd love to know. (You could PM me.) My second husband's family has stuff running around in it that might not be CF (see my sig).

Edited to add<img src="i/expressions/face-icon-small-happy.gif" border="0">uh. I get it now. It IS CF it is just that the mutations are rare.
 
L

LisaV

New member
OMIM ( <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM</a> ) is the scientific "bible" for genetic mutations. Not easy to use. Sometimes more than you want to know. But where the docs go for the summary info.

Goodluck.
If it's not CF and you don't mind sharing. I'd love to know. (You could PM me.) My second husband's family has stuff running around in it that might not be CF (see my sig).

Edited to add<img src="i/expressions/face-icon-small-happy.gif" border="0">uh. I get it now. It IS CF it is just that the mutations are rare.
 
L

LisaV

New member
OMIM ( <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM</a> ) is the scientific "bible" for genetic mutations. Not easy to use. Sometimes more than you want to know. But where the docs go for the summary info.

Goodluck.
If it's not CF and you don't mind sharing. I'd love to know. (You could PM me.) My second husband's family has stuff running around in it that might not be CF (see my sig).

Edited to add<img src="i/expressions/face-icon-small-happy.gif" border="0">uh. I get it now. It IS CF it is just that the mutations are rare.
 
M

momofcash

Guest
Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.

We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.
 
M

momofcash

Guest
Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.

We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.
 
M

momofcash

Guest
Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.

We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>momofcash</b></i>

Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.



We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.</end quote></div>

I would leave another message for Steve from Ambry since the websites didnt help. He would be the next best step in helping........
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>momofcash</b></i>

Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.



We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.</end quote></div>

I would leave another message for Steve from Ambry since the websites didnt help. He would be the next best step in helping........
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>momofcash</b></i>

Thank you both for the websites. Unfortunately the 2 mutations I was told about today were not listed on either site. The geneticist said they were very rare and she was trying to find more inforamtion about them as well.



We knew from his initial screening that he had mutation G542X. The two identified on the other chromosome are R297Q and R74Q. I am just trying to find anything other than CBAVD and that they are rare. Very frustrating. Hopefully we'll find out something.</end quote></div>

I would leave another message for Steve from Ambry since the websites didnt help. He would be the next best step in helping........
 
O

okok

New member
Hi

I found some information on the mutation R297Q. It states that it is a rare polymorphism and when paired with df508 on the opposite chromosome does NOT cause disease.
here is a link: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8680407&dopt=Abstract
">http://www.ncbi.nlm.nih.gov/en...7&dopt=Abstract
</a>

i also found some info from sickkids on the other mutation r74q which sounds like it could possibly be disease causing:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1082
">http://www.genet.sickkids.on.c...xternal?sp=1082
</a>

there has been one person who had chronic pancreatitis and also had this mutation and no other cf mutations. so this one could be causing trouble for your son????

Good luck with you pulmo visit. I hope it will be helpful for you and that your son will get the treatment he needs. It sounds like your son might be a good canidate for the nasal potential difference test if that is available. Without remembering your son's symptoms (other than constipation) which in the case CF really does not have a unique treatment (as opposed to other causes of constipation), I would suggest that they go ahead and treat him as if he has CF or at the very least to moniter him closely in case he develops symptoms of CF.

Again good luck and let us know how it goes.

PS... i just saw in the update on the sickkids report that the other chromosome for the person with chronic pancreatitis had your child's other mutation R279Q. so i guess that person did not have CF but did eventually develop chronic pancreatitis...? I have heard that some CF carriers are more susceptable to chronic pancreatitis but i think it is mostly a hypothesis. Anyway i am sure your doctor will much more helpful than me. Hopefully anyway!
 
O

okok

New member
Hi

I found some information on the mutation R297Q. It states that it is a rare polymorphism and when paired with df508 on the opposite chromosome does NOT cause disease.
here is a link: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8680407&dopt=Abstract
">http://www.ncbi.nlm.nih.gov/en...7&dopt=Abstract
</a>

i also found some info from sickkids on the other mutation r74q which sounds like it could possibly be disease causing:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1082
">http://www.genet.sickkids.on.c...xternal?sp=1082
</a>

there has been one person who had chronic pancreatitis and also had this mutation and no other cf mutations. so this one could be causing trouble for your son????

Good luck with you pulmo visit. I hope it will be helpful for you and that your son will get the treatment he needs. It sounds like your son might be a good canidate for the nasal potential difference test if that is available. Without remembering your son's symptoms (other than constipation) which in the case CF really does not have a unique treatment (as opposed to other causes of constipation), I would suggest that they go ahead and treat him as if he has CF or at the very least to moniter him closely in case he develops symptoms of CF.

Again good luck and let us know how it goes.

PS... i just saw in the update on the sickkids report that the other chromosome for the person with chronic pancreatitis had your child's other mutation R279Q. so i guess that person did not have CF but did eventually develop chronic pancreatitis...? I have heard that some CF carriers are more susceptable to chronic pancreatitis but i think it is mostly a hypothesis. Anyway i am sure your doctor will much more helpful than me. Hopefully anyway!
 
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