3905inst
- Thread starter samb
- Start date
MyBabyCeline
Member
Hi samb,
Check this link from the Cf mutation database, it gives a brief idea about your daughter's mutation
http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=533
Also if you google it you can find an article talking about this mutation (here's the link for the article: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987192/pdf/ejhg2009140a.pdf)
I haven't actually read it but always remember that every CF patient is a unique case and you can't always relate a certain genotype to a specific phenotype because even siblings with the same mutation combination have shown different phenotypes for CF.
I hope I helped you in some way..
Check this link from the Cf mutation database, it gives a brief idea about your daughter's mutation
http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=533
Also if you google it you can find an article talking about this mutation (here's the link for the article: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987192/pdf/ejhg2009140a.pdf)
I haven't actually read it but always remember that every CF patient is a unique case and you can't always relate a certain genotype to a specific phenotype because even siblings with the same mutation combination have shown different phenotypes for CF.
I hope I helped you in some way..
MyBabyCeline
Member
Hi samb,
Check this link from the Cf mutation database, it gives a brief idea about your daughter's mutation
http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=533
Also if you google it you can find an article talking about this mutation (here's the link for the article: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987192/pdf/ejhg2009140a.pdf)
I haven't actually read it but always remember that every CF patient is a unique case and you can't always relate a certain genotype to a specific phenotype because even siblings with the same mutation combination have shown different phenotypes for CF.
I hope I helped you in some way..
Check this link from the Cf mutation database, it gives a brief idea about your daughter's mutation
http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=533
Also if you google it you can find an article talking about this mutation (here's the link for the article: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987192/pdf/ejhg2009140a.pdf)
I haven't actually read it but always remember that every CF patient is a unique case and you can't always relate a certain genotype to a specific phenotype because even siblings with the same mutation combination have shown different phenotypes for CF.
I hope I helped you in some way..
Patti Rowland
New member
Hello! Just saw this. My daughter also has this same gene which is very common in the Swiss population. Her other gene is also delta508. She was diagnosed at 10 years old. She really did not exhibit symptoms till she was about 8 1/2. She started losing weight and coughing at night. I must have taken her to that worthless pediatrician 50 times with worry. I changed pediatricians and even though she missed it as well she at least sent us to an allergy specialist that figured it out. We had absolutely no idea we were carriers of CF, nor did we know anything about it. You are lucky that your daughter was diagnosed early and you can begin to fight back against the progression.
Today my daughter is 25 and a college graduate. She has had some set backs this past year though. She had her first "clean out" at 18 years of age and has had a total of 4 clean outs. She never seems to get much response from these clean outs though
She is currently in the VX 445 clinical trial .
She is PI and only cultures PA.
I hope things are going well with your daughter and if I ever hear anything of interest about that rather rare gene our girls have I will share with you!
Today my daughter is 25 and a college graduate. She has had some set backs this past year though. She had her first "clean out" at 18 years of age and has had a total of 4 clean outs. She never seems to get much response from these clean outs though
She is currently in the VX 445 clinical trial .
She is PI and only cultures PA.
I hope things are going well with your daughter and if I ever hear anything of interest about that rather rare gene our girls have I will share with you!