Is there anyone like me?
- Thread starter KayyyA
- Start date
OK you had a genetic test that was evidently negative. The initial screening, on a genetic test, is 39 most common mutations. A second test is for 100 mutations. There are almost 2000 known mutations, any 2 will give you CF.
You need to go to an APPROVED CF CLINIC and see a CF SPECIALIST. Ask him/her to order a FULL CF SEQUENCING.
Yes, I am like you. My second mutation is very uncommon.
Bill
You need to go to an APPROVED CF CLINIC and see a CF SPECIALIST. Ask him/her to order a FULL CF SEQUENCING.
Yes, I am like you. My second mutation is very uncommon.
Bill
J
John O
Guest
Kayy A
I suggest going to a CF clinic if you are in USA you can find a clinci near you if you go to CFF.org I suggest asking the doctor to use Ambry Genetics Lab in california. They screen for over 1800 mutations of CF. All you need to do is contact Ambry and they send you a tube for your blood. Have the blood drawn and send it back to the lab in Calif. My wife used Ambry for her diagnosis of CF carrier. IF you have questions let me know. Good Luck!!!!
I suggest going to a CF clinic if you are in USA you can find a clinci near you if you go to CFF.org I suggest asking the doctor to use Ambry Genetics Lab in california. They screen for over 1800 mutations of CF. All you need to do is contact Ambry and they send you a tube for your blood. Have the blood drawn and send it back to the lab in Calif. My wife used Ambry for her diagnosis of CF carrier. IF you have questions let me know. Good Luck!!!!
I only have 1 gene identified and its not a common one L206w. Currently, CF Foundation funded some further genetics testing which will test all the way to DNA sequencing to try to find the other gene. Good Luck with yours. The meds help so much once you can get diagnosed. I was 38 yrs old.
LittleLab4CF
Super Moderator
KayyyA, Welcome to genetic limbo. As Printer explained basic neo-natal tests that include CF, catch most CF patients in total numbers but over 90% of the CFTR mutations aren't routinely tested for. For all the fuss over CF genetics, for now, it is much to do about nothing excepting a lucky few. I am talking about Kalydeco and similar drugs that are in clinical trial for CF. If you live in the Czech Republic there is no shortage of educated and talented people but resources always seem to be at a premium. A good lab for commercial genetic testing at the level we need isn't found just everywhere. I would try an international medical NPO for full genetic testing and hopefully the promise of a genetic drug. If pigs could fly.
If you don't have the means to get a full genetic test, chances are the genetic drugs aren't available so don't waste anymore time worrying about CF genetics. I admit that my own curiosity over CF genetics has caused me to go against my own advice.
Your description of the symptoms you have are pretty familiar and I feel for you. Although my sweat chloride test confirms CF along with my clinical presentations, I am technically still a carrier. I have a single copy of S1235R and nothing else that anybody is claiming to be a CFTR mutation. I was tested last year and being a geneticist myself, I ordered an exhaustive test that included over a thousand possible mutations that haven't even been looked at. Still I just have this one mutation and guess what? Research has shown clinical CF presentations with heterozygous S1235R. Ok, one substantial research paper was cited to show this. I could care less if I had one or twenty mutations if knowing was all there was to it. For most people that is all that it is.
LL
If you don't have the means to get a full genetic test, chances are the genetic drugs aren't available so don't waste anymore time worrying about CF genetics. I admit that my own curiosity over CF genetics has caused me to go against my own advice.
Your description of the symptoms you have are pretty familiar and I feel for you. Although my sweat chloride test confirms CF along with my clinical presentations, I am technically still a carrier. I have a single copy of S1235R and nothing else that anybody is claiming to be a CFTR mutation. I was tested last year and being a geneticist myself, I ordered an exhaustive test that included over a thousand possible mutations that haven't even been looked at. Still I just have this one mutation and guess what? Research has shown clinical CF presentations with heterozygous S1235R. Ok, one substantial research paper was cited to show this. I could care less if I had one or twenty mutations if knowing was all there was to it. For most people that is all that it is.
LL
JustaCFmom
New member
I am in Israel. I know of someone who sent their blood sample overseas for the full sequencing. don't know how you would do it there. It must be quite expensive.
The bottom line is you have to treat those ugly bugs in your lungs and it is worth going to the best specialist (ideally, a CF specialist) in your area to get the best care that you can. It sounds like it is worth doing CF treatments to keep your lungs happy.
I've included some links that may be helpful for you. One is specific for Czechs and the others are for Europe and international. I love this forum, but I am also involved with the local CF forum because there is info that is important for me HERE. Good luck and I hope you get your answers!
http://www.cfklub.cz/
http://www.ecfs.eu/ctn/national-cf-associations ;
http://www.cfww.org/members/3/Czech_Republic/
Contact Information
Mrs Anna Arellanesová
Klub nemocných Cystickou Fibrózou
Address
Kudrnova 22/95
150 06 Prague 5
Czech Republic
Telephone
420. 2 .572 .119 .29
Fax -
004.2. 572.215.15