H199Q - any info?

O

oneson

New member
Hi All,
very new to this cf world. my 8yr old son has d508f and h199q. Does anyone out there have any info on this combo of genes? he presents no signs of cf at this point or prior, only discovered when aggressive (read:thorough) GI ordered sweat test to rule out cf due to longterm recurring constipation. needless to say, ruled it IN. now starting neb and vest 2x daily. concerned w/using meds when no physical signs of necessity. Hi res CT w/sedation sched for next week. nervous about sedation, anxious to learn results of CT. will base decision to continue meds/vest on CT results. Any thoughts from experienced parents/practitioners are welcome.
 
O

oneson

New member
Hi All,
very new to this cf world. my 8yr old son has d508f and h199q. Does anyone out there have any info on this combo of genes? he presents no signs of cf at this point or prior, only discovered when aggressive (read:thorough) GI ordered sweat test to rule out cf due to longterm recurring constipation. needless to say, ruled it IN. now starting neb and vest 2x daily. concerned w/using meds when no physical signs of necessity. Hi res CT w/sedation sched for next week. nervous about sedation, anxious to learn results of CT. will base decision to continue meds/vest on CT results. Any thoughts from experienced parents/practitioners are welcome.
 
O

oneson

New member
Hi All,
very new to this cf world. my 8yr old son has d508f and h199q. Does anyone out there have any info on this combo of genes? he presents no signs of cf at this point or prior, only discovered when aggressive (read:thorough) GI ordered sweat test to rule out cf due to longterm recurring constipation. needless to say, ruled it IN. now starting neb and vest 2x daily. concerned w/using meds when no physical signs of necessity. Hi res CT w/sedation sched for next week. nervous about sedation, anxious to learn results of CT. will base decision to continue meds/vest on CT results. Any thoughts from experienced parents/practitioners are welcome.
 
O

oneson

New member
Hi All,
very new to this cf world. my 8yr old son has d508f and h199q. Does anyone out there have any info on this combo of genes? he presents no signs of cf at this point or prior, only discovered when aggressive (read:thorough) GI ordered sweat test to rule out cf due to longterm recurring constipation. needless to say, ruled it IN. now starting neb and vest 2x daily. concerned w/using meds when no physical signs of necessity. Hi res CT w/sedation sched for next week. nervous about sedation, anxious to learn results of CT. will base decision to continue meds/vest on CT results. Any thoughts from experienced parents/practitioners are welcome.
 
O

oneson

New member
Hi All,
very new to this cf world. my 8yr old son has d508f and h199q. Does anyone out there have any info on this combo of genes? he presents no signs of cf at this point or prior, only discovered when aggressive (read:thorough) GI ordered sweat test to rule out cf due to longterm recurring constipation. needless to say, ruled it IN. now starting neb and vest 2x daily. concerned w/using meds when no physical signs of necessity. Hi res CT w/sedation sched for next week. nervous about sedation, anxious to learn results of CT. will base decision to continue meds/vest on CT results. Any thoughts from experienced parents/practitioners are welcome.
 
M

Mommafirst

Guest
I did a quick search for you and here is what I found. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=137">H188Q</a>

I have no clue what this means though -- maybe with some better background than I. It says, "This alteration does not affect a restriciton site so we are testing an ASO." I don't know if this means that the H188Q doesn't appear to present with symptoms or what. You might want to post on the families section under the Ambry thread. Steven may be able to make sense of it.

Welcome to the site. I'm sorry to hear about the diagnosis, but think its a good sign that at his age he still has no symptoms.
 
M

Mommafirst

Guest
I did a quick search for you and here is what I found. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=137">H188Q</a>

I have no clue what this means though -- maybe with some better background than I. It says, "This alteration does not affect a restriciton site so we are testing an ASO." I don't know if this means that the H188Q doesn't appear to present with symptoms or what. You might want to post on the families section under the Ambry thread. Steven may be able to make sense of it.

Welcome to the site. I'm sorry to hear about the diagnosis, but think its a good sign that at his age he still has no symptoms.
 
M

Mommafirst

Guest
I did a quick search for you and here is what I found. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=137">H188Q</a>

I have no clue what this means though -- maybe with some better background than I. It says, "This alteration does not affect a restriciton site so we are testing an ASO." I don't know if this means that the H188Q doesn't appear to present with symptoms or what. You might want to post on the families section under the Ambry thread. Steven may be able to make sense of it.

Welcome to the site. I'm sorry to hear about the diagnosis, but think its a good sign that at his age he still has no symptoms.
 
M

Mommafirst

Guest
I did a quick search for you and here is what I found. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=137">H188Q</a>

I have no clue what this means though -- maybe with some better background than I. It says, "This alteration does not affect a restriciton site so we are testing an ASO." I don't know if this means that the H188Q doesn't appear to present with symptoms or what. You might want to post on the families section under the Ambry thread. Steven may be able to make sense of it.

Welcome to the site. I'm sorry to hear about the diagnosis, but think its a good sign that at his age he still has no symptoms.
 
M

Mommafirst

Guest
I did a quick search for you and here is what I found. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=137">H188Q</a>

I have no clue what this means though -- maybe with some better background than I. It says, "This alteration does not affect a restriciton site so we are testing an ASO." I don't know if this means that the H188Q doesn't appear to present with symptoms or what. You might want to post on the families section under the Ambry thread. Steven may be able to make sense of it.

Welcome to the site. I'm sorry to hear about the diagnosis, but think its a good sign that at his age he still has no symptoms.
 
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