how do I ask my doctor

L

Lety

Guest
I have been around this website since 2005 when my now 6 year old daughter was diagnosed with CF. She has DD508. I don't post a lot because my grammar is terrible. English is my second languaje. I have learned a lot just reading and I have been able to help my daughter moreoften learning here than from doctors. She is PI and has more GI problems than lung problems. I know that could change anytime. I'm 46 years old and she is just 6. I am so consumed with worry because I want to be around to be able to help her. We don't have any support system, my family is overseas and myhusband's family (his 84 y/o momand 45 y/o sister)they live in the same city but don't care about us. Never visit, never ask anything, months can go by andwe don't know anything about them. I gaveup trying to get them closer. My husband is 54. My husband and I are the only ones who care about our daughter.
Four years ago I had a liver biopsy because my liver enzymes where extremely high. Doctor ran a lot of tests to find the cause but never find anything. Today I learned that they are high again. Being a 508 carrier I was wondering if I might have a second rare mutation that give me all my GI problems. I am extremely skinny and always have been. Ihave to eat constantly, always hungry. but no weight gain.No lung issues but a lot of GI problems. What kind of test is available to determine if I have a second mutation. What is the name of the test. I need to be healthy to be able to help my daughter. I apologize for my silly grammar and spelling.
Thanks
 
L

Lety

Guest
I have been around this website since 2005 when my now 6 year old daughter was diagnosed with CF. She has DD508. I don't post a lot because my grammar is terrible. English is my second languaje. I have learned a lot just reading and I have been able to help my daughter moreoften learning here than from doctors. She is PI and has more GI problems than lung problems. I know that could change anytime. I'm 46 years old and she is just 6. I am so consumed with worry because I want to be around to be able to help her. We don't have any support system, my family is overseas and myhusband's family (his 84 y/o momand 45 y/o sister)they live in the same city but don't care about us. Never visit, never ask anything, months can go by andwe don't know anything about them. I gaveup trying to get them closer. My husband is 54. My husband and I are the only ones who care about our daughter.
Four years ago I had a liver biopsy because my liver enzymes where extremely high. Doctor ran a lot of tests to find the cause but never find anything. Today I learned that they are high again. Being a 508 carrier I was wondering if I might have a second rare mutation that give me all my GI problems. I am extremely skinny and always have been. Ihave to eat constantly, always hungry. but no weight gain.No lung issues but a lot of GI problems. What kind of test is available to determine if I have a second mutation. What is the name of the test. I need to be healthy to be able to help my daughter. I apologize for my silly grammar and spelling.
Thanks
 
J

JustDucky

New member
You definitely need the full sequencing, you could have a rarer mutation. For sure, you have the DF508.....the other one might take a bit of digging if you do indeed have CF.. Make sure you go to an accredited center for testing and evaluation. Have you ever had a sweat test done? That will probably be the first thing they do to you and then go on to genetic testing from there. Just know that not everyone with CF has high sweat chloride levels. I am borderline at 50 as far as mine goes and I do have CF (called atypical by my docs). For peace of mind, go through the testing so that you know and if you do have CF, you will finally get the treatment that you need.
Good luck
Jenn 40 w/CF
 
J

JustDucky

New member
You definitely need the full sequencing, you could have a rarer mutation. For sure, you have the DF508.....the other one might take a bit of digging if you do indeed have CF.. Make sure you go to an accredited center for testing and evaluation. Have you ever had a sweat test done? That will probably be the first thing they do to you and then go on to genetic testing from there. Just know that not everyone with CF has high sweat chloride levels. I am borderline at 50 as far as mine goes and I do have CF (called atypical by my docs). For peace of mind, go through the testing so that you know and if you do have CF, you will finally get the treatment that you need.
Good luck
Jenn 40 w/CF
 
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