one mutation but symptoms of CF-what to do?

D

daisy85

Guest
Hi everyone, I'm new here. For the last 7 years, I have dealt with chronic sinus infections, headaches, stomach problems, and fatigue. I seem to catch everything that goes around, and one round of antibiotics almost never resolves infections. I have discovered that I have a primary immunodeficiency (primary means I was born with it, as opposed to an acquired immunodeficiency), but I have been immunoglobulin replacement therapy for that for a year and a half, and I'm still having the same symptoms, just not catching as many viruses. My hematologist thought to have me checked for CF, so I found a place through the Cystic Fibrosis Foundation and had the testing done. Long story short, my sweat test result was 30, which is not even technically borderline, but because of my symptoms the dr wanted to proceed with the genetic testing, and they found one mutation, 2184delA. They then checked me for deletions and duplications, which all came back negative. The dr and genetic counselor told me that basically there's an emerging understanding that CF is a spectrum and that for some reason that they don't understand yet, some carriers have symptoms. They said that I'm on the extreme end of being symptomatic as a carrier, but that as of yet there is no way to treat carriers who have the symptoms of CF.
The dr also told me that we can't be 100% sure that I don't have another mutation that is just very very rare or hasn't been discovered yet, in which case I'm on the mild end of having CF. So should I be waiting a few months and retesting in case some new mutations have been discovered? Should I be testing through a different lab? Or should I just accept that I'm in limbo and try to learn to live with my symptoms? I'm also wondering whether anyone out there is a symptomatic carrier as well and does receive treatment.
 
D

daisy85

Guest
Hi everyone, I'm new here. For the last 7 years, I have dealt with chronic sinus infections, headaches, stomach problems, and fatigue. I seem to catch everything that goes around, and one round of antibiotics almost never resolves infections. I have discovered that I have a primary immunodeficiency (primary means I was born with it, as opposed to an acquired immunodeficiency), but I have been immunoglobulin replacement therapy for that for a year and a half, and I'm still having the same symptoms, just not catching as many viruses. My hematologist thought to have me checked for CF, so I found a place through the Cystic Fibrosis Foundation and had the testing done. Long story short, my sweat test result was 30, which is not even technically borderline, but because of my symptoms the dr wanted to proceed with the genetic testing, and they found one mutation, 2184delA. They then checked me for deletions and duplications, which all came back negative. The dr and genetic counselor told me that basically there's an emerging understanding that CF is a spectrum and that for some reason that they don't understand yet, some carriers have symptoms. They said that I'm on the extreme end of being symptomatic as a carrier, but that as of yet there is no way to treat carriers who have the symptoms of CF.
The dr also told me that we can't be 100% sure that I don't have another mutation that is just very very rare or hasn't been discovered yet, in which case I'm on the mild end of having CF. So should I be waiting a few months and retesting in case some new mutations have been discovered? Should I be testing through a different lab? Or should I just accept that I'm in limbo and try to learn to live with my symptoms? I'm also wondering whether anyone out there is a symptomatic carrier as well and does receive treatment.
 
A

Anomie

New member
symptomatic carrier?

You should try getting a prescription for kalydeco and see if that helps. I've never thought about it before but symptomatic carriers are another subset of the population that may benefit significantly from this new drug.
 
A

Anomie

New member
symptomatic carrier?

You should try getting a prescription for kalydeco and see if that helps. I've never thought about it before but symptomatic carriers are another subset of the population that may benefit significantly from this new drug.
 
D

daisy85

Guest
symptomatic carrier?

Isn't it just for people with the G551D mutation?
 
D

daisy85

Guest
symptomatic carrier?

Isn't it just for people with the G551D mutation?
 
A

Anomie

New member
symptomatic carrier?

It works the best on G551D and other similar gating mutations but some people with completely different class mutations also had extraordinary improvements with it. Even a few people on here have gotten their doctor to write them prescriptions for it without a gating mutation or any promise that it would do anything for them at all. They even got their insurance companies to cover it. When they were testing kalydeco on the delta F508s they had an average reduction in sweat chloride of 5-8% and this is what I was kinda thinking of for you. As a symptomatic carrier or possibly someone with a milder expression of the disease you could be very close to having a healthy sweat test and kalydeco might be able to give you just enough CFTR function to put you out of the disease range. It won't be easy to convince them because they'll probably tell you its for G551D but the drug has been deemed safe by the FDA and if you push hard enough with your doctors and insurance company you just might be able to get it. Other people have. Just tell them that because you may have an unknown mutation then there is no way of conducting a clinical trial to see if the drug would benefit you and the only way to find out if it helps is for them to write you a prescription for a 30 day supply and go from there. You may also try referring them to the links below. Good Luck!!

http://saltyspark.blogspot.com/2012/03/kalydeco-for-class-i-and-class-ii.html

http://luckycfmom.blogspot.com/2012/03/calling-all-heterozygotes.html
 
A

Anomie

New member
symptomatic carrier?

It works the best on G551D and other similar gating mutations but some people with completely different class mutations also had extraordinary improvements with it. Even a few people on here have gotten their doctor to write them prescriptions for it without a gating mutation or any promise that it would do anything for them at all. They even got their insurance companies to cover it. When they were testing kalydeco on the delta F508s they had an average reduction in sweat chloride of 5-8% and this is what I was kinda thinking of for you. As a symptomatic carrier or possibly someone with a milder expression of the disease you could be very close to having a healthy sweat test and kalydeco might be able to give you just enough CFTR function to put you out of the disease range. It won't be easy to convince them because they'll probably tell you its for G551D but the drug has been deemed safe by the FDA and if you push hard enough with your doctors and insurance company you just might be able to get it. Other people have. Just tell them that because you may have an unknown mutation then there is no way of conducting a clinical trial to see if the drug would benefit you and the only way to find out if it helps is for them to write you a prescription for a 30 day supply and go from there. You may also try referring them to the links below. Good Luck!!

http://saltyspark.blogspot.com/2012/03/kalydeco-for-class-i-and-class-ii.html

http://luckycfmom.blogspot.com/2012/03/calling-all-heterozygotes.html
 
J

JENNYC

New member
This sounds like a good question for Steven. Look for the forum titled Welcome Ambry Genetics. He is very good at answering questions like this. Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

JENNYC

New member
This sounds like a good question for Steven. Look for the forum titled Welcome Ambry Genetics. He is very good at answering questions like this. Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
D

daisy85

Guest
Bill-I'm not sure. I just looked on my insurance website and it says something was sent to Ambry, but I can't tell whether it was the full sequencing or not. does Ambry do a not-full sequencing?
 
D

daisy85

Guest
Bill-I'm not sure. I just looked on my insurance website and it says something was sent to Ambry, but I can't tell whether it was the full sequencing or not. does Ambry do a not-full sequencing?
 
J

JENNYC

New member
Daisy85 Steven on the Family forum under Welcome Ambry Genetics will look that up for you and let you know exactly what test was ran and if anything further needs to be ran. Check it out. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

JENNYC

New member
Daisy85 Steven on the Family forum under Welcome Ambry Genetics will look that up for you and let you know exactly what test was ran and if anything further needs to be ran. Check it out. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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