Looking for folks with the S1159P mutation

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SarahProcter

Guest
My daughter's been diagnosed as having DF508 and S1159P. The latter is supposedly quite rare. I was wondering if there was anyone on here who has this mutation or who knows anyone with it? I'd love to learn more and hear your experiences.

Thanks so much,
// Sarah
 
S

SarahProcter

Guest
My daughter's been diagnosed as having DF508 and S1159P. The latter is supposedly quite rare. I was wondering if there was anyone on here who has this mutation or who knows anyone with it? I'd love to learn more and hear your experiences.

Thanks so much,
// Sarah
 
S

SarahProcter

Guest
My daughter's been diagnosed as having DF508 and S1159P. The latter is supposedly quite rare. I was wondering if there was anyone on here who has this mutation or who knows anyone with it? I'd love to learn more and hear your experiences.

Thanks so much,
// Sarah
 
S

SarahProcter

Guest
My daughter's been diagnosed as having DF508 and S1159P. The latter is supposedly quite rare. I was wondering if there was anyone on here who has this mutation or who knows anyone with it? I'd love to learn more and hear your experiences.

Thanks so much,
// Sarah
 
S

SarahProcter

Guest
My daughter's been diagnosed as having DF508 and S1159P. The latter is supposedly quite rare. I was wondering if there was anyone on here who has this mutation or who knows anyone with it? I'd love to learn more and hear your experiences.
<br />
<br />Thanks so much,
<br />// Sarah
 
G

grassisgreener

New member
Have you checked here?

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/app
">http://www3.genet.sickkids.on.ca/cftr/app
</a>
It can be really difficult to find info on the rare ones, there is only one other person in the database with my daughters 2nd mutation and his combos are different so not much help there. My daughter's genetic report did have some info on how her mutation affects the CFTR protien though which is different than how the DF508 does. Did you get a report?
 
G

grassisgreener

New member
Have you checked here?

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/app
">http://www3.genet.sickkids.on.ca/cftr/app
</a>
It can be really difficult to find info on the rare ones, there is only one other person in the database with my daughters 2nd mutation and his combos are different so not much help there. My daughter's genetic report did have some info on how her mutation affects the CFTR protien though which is different than how the DF508 does. Did you get a report?
 
G

grassisgreener

New member
Have you checked here?

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/app
">http://www3.genet.sickkids.on.ca/cftr/app
</a>
It can be really difficult to find info on the rare ones, there is only one other person in the database with my daughters 2nd mutation and his combos are different so not much help there. My daughter's genetic report did have some info on how her mutation affects the CFTR protien though which is different than how the DF508 does. Did you get a report?
 
G

grassisgreener

New member
Have you checked here?

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/app
">http://www3.genet.sickkids.on.ca/cftr/app
</a>
It can be really difficult to find info on the rare ones, there is only one other person in the database with my daughters 2nd mutation and his combos are different so not much help there. My daughter's genetic report did have some info on how her mutation affects the CFTR protien though which is different than how the DF508 does. Did you get a report?
 
G

grassisgreener

New member
Have you checked here?
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/app
">http://www3.genet.sickkids.on.ca/cftr/app
</a><br />
<br />It can be really difficult to find info on the rare ones, there is only one other person in the database with my daughters 2nd mutation and his combos are different so not much help there. My daughter's genetic report did have some info on how her mutation affects the CFTR protien though which is different than how the DF508 does. Did you get a report?
 
S

SarahProcter

Guest
No, I did not get a report, I should ask about that at her appointment this week. We just got told based on the CA newborn screening, so we haven't seen any actual paperwork, we just got a phonecall and a referral to a local CF center. Thanks for the tip!

There is one person with her mutation listed in the database you referenced; and that person has the same combination (DF508+S1159P). That individual was pancreatic sufficient, and my baby's been gaining weight fine and has ordinary-seeming poo (well, as ordinary as baby poo gets!) so we're hoping she will be pancreatic sufficient as well. But we know that the mutation doesn't dictate the specific outcome, so we're waiting on test results back.

I just wish we knew more. And I understood more. I am so worried about my little one.
 
S

SarahProcter

Guest
No, I did not get a report, I should ask about that at her appointment this week. We just got told based on the CA newborn screening, so we haven't seen any actual paperwork, we just got a phonecall and a referral to a local CF center. Thanks for the tip!

There is one person with her mutation listed in the database you referenced; and that person has the same combination (DF508+S1159P). That individual was pancreatic sufficient, and my baby's been gaining weight fine and has ordinary-seeming poo (well, as ordinary as baby poo gets!) so we're hoping she will be pancreatic sufficient as well. But we know that the mutation doesn't dictate the specific outcome, so we're waiting on test results back.

I just wish we knew more. And I understood more. I am so worried about my little one.
 
S

SarahProcter

Guest
No, I did not get a report, I should ask about that at her appointment this week. We just got told based on the CA newborn screening, so we haven't seen any actual paperwork, we just got a phonecall and a referral to a local CF center. Thanks for the tip!

There is one person with her mutation listed in the database you referenced; and that person has the same combination (DF508+S1159P). That individual was pancreatic sufficient, and my baby's been gaining weight fine and has ordinary-seeming poo (well, as ordinary as baby poo gets!) so we're hoping she will be pancreatic sufficient as well. But we know that the mutation doesn't dictate the specific outcome, so we're waiting on test results back.

I just wish we knew more. And I understood more. I am so worried about my little one.
 
S

SarahProcter

Guest
No, I did not get a report, I should ask about that at her appointment this week. We just got told based on the CA newborn screening, so we haven't seen any actual paperwork, we just got a phonecall and a referral to a local CF center. Thanks for the tip!

There is one person with her mutation listed in the database you referenced; and that person has the same combination (DF508+S1159P). That individual was pancreatic sufficient, and my baby's been gaining weight fine and has ordinary-seeming poo (well, as ordinary as baby poo gets!) so we're hoping she will be pancreatic sufficient as well. But we know that the mutation doesn't dictate the specific outcome, so we're waiting on test results back.

I just wish we knew more. And I understood more. I am so worried about my little one.
 
S

SarahProcter

Guest
No, I did not get a report, I should ask about that at her appointment this week. We just got told based on the CA newborn screening, so we haven't seen any actual paperwork, we just got a phonecall and a referral to a local CF center. Thanks for the tip!
<br />
<br />There is one person with her mutation listed in the database you referenced; and that person has the same combination (DF508+S1159P). That individual was pancreatic sufficient, and my baby's been gaining weight fine and has ordinary-seeming poo (well, as ordinary as baby poo gets!) so we're hoping she will be pancreatic sufficient as well. But we know that the mutation doesn't dictate the specific outcome, so we're waiting on test results back.
<br />
<br />I just wish we knew more. And I understood more. I am so worried about my little one.
 
S

Sakem

New member
Has anyone ever looked at the dates of the mutation database and how outdated it is???? I once saw another database that listed how many people there were with certain mutations...not sure where I saw it at, maybe the CFF.org website? does anyone know about this?
 
S

Sakem

New member
Has anyone ever looked at the dates of the mutation database and how outdated it is???? I once saw another database that listed how many people there were with certain mutations...not sure where I saw it at, maybe the CFF.org website? does anyone know about this?
 
S

Sakem

New member
Has anyone ever looked at the dates of the mutation database and how outdated it is???? I once saw another database that listed how many people there were with certain mutations...not sure where I saw it at, maybe the CFF.org website? does anyone know about this?
 
S

Sakem

New member
Has anyone ever looked at the dates of the mutation database and how outdated it is???? I once saw another database that listed how many people there were with certain mutations...not sure where I saw it at, maybe the CFF.org website? does anyone know about this?
 
S

Sakem

New member
Has anyone ever looked at the dates of the mutation database and how outdated it is???? I once saw another database that listed how many people there were with certain mutations...not sure where I saw it at, maybe the CFF.org website? does anyone know about this?
 
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