Alorance9571
New member
I had a gene sequencing test done, and it came back as follows:
Finding: Presumed Positive
They found two disease causing mutations, G542x (now called 1624G). The other, is 3120G (now called 2988G) Both are heterozygous, but the testing couldn’t tell if they were on different chromosome copies. The report states that parental testing (which isn’t possible in my case) is the only way to tell if they are on different chromosome copies.
I’m seeing my Pulm for m. abscessus, and he doesn’t think I have CF, and says I’m simply a carrier, because neither mutation was homozygous. But, from what I’ve read, that doesn't matter. If you have two mutations (assuming they are on different chromosome copies), you have CF.
Symptoms (since childhood, 35yrs old now) are:
-Chronic infection of lungs
-sinusitis with polyps
-easy dehydration (I’ve found that no amount of water keeps me hydrated in the heat)
-a lot of dry salt on arms, neck and chest when I get too dehydrated and hot
-heat intolerance
-frequent constipation
-nausea (likely due to the dehydration)
-fatigue (also likely due to dehydration)
-frequent low potassium levels (leading to wicked foot cramps!!)
I can count on one hand the number of well days I’ve had in my life. I’m pretty much always dehydrated, I sweat a lot. In the last couple of weeks since researching CF, I’ve found salt to be the ingredient I may be missing. So, I’m testing that now.
Am I just reaching here, or does this sound like CF to you all? I’m awaiting a referral to a CF clinic, but I think my doc wants to send me to National Jewish in Denver. It typically takes a month or two to get an appt there.
From all of my research on this site and elsewhere, it seems that being diagnosed with two mutations is common, so my doc is really confusing me right now.
I really appreciate any advice you can give me!!
Amy
Finding: Presumed Positive
They found two disease causing mutations, G542x (now called 1624G). The other, is 3120G (now called 2988G) Both are heterozygous, but the testing couldn’t tell if they were on different chromosome copies. The report states that parental testing (which isn’t possible in my case) is the only way to tell if they are on different chromosome copies.
I’m seeing my Pulm for m. abscessus, and he doesn’t think I have CF, and says I’m simply a carrier, because neither mutation was homozygous. But, from what I’ve read, that doesn't matter. If you have two mutations (assuming they are on different chromosome copies), you have CF.
Symptoms (since childhood, 35yrs old now) are:
-Chronic infection of lungs
-sinusitis with polyps
-easy dehydration (I’ve found that no amount of water keeps me hydrated in the heat)
-a lot of dry salt on arms, neck and chest when I get too dehydrated and hot
-heat intolerance
-frequent constipation
-nausea (likely due to the dehydration)
-fatigue (also likely due to dehydration)
-frequent low potassium levels (leading to wicked foot cramps!!)
I can count on one hand the number of well days I’ve had in my life. I’m pretty much always dehydrated, I sweat a lot. In the last couple of weeks since researching CF, I’ve found salt to be the ingredient I may be missing. So, I’m testing that now.
Am I just reaching here, or does this sound like CF to you all? I’m awaiting a referral to a CF clinic, but I think my doc wants to send me to National Jewish in Denver. It typically takes a month or two to get an appt there.
From all of my research on this site and elsewhere, it seems that being diagnosed with two mutations is common, so my doc is really confusing me right now.
I really appreciate any advice you can give me!!
Amy