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Thank you. This forum has been an incredible help to me. It was back in June when I first posted here asking for ideas that it was suggested I get the genetic testing. While I thought I was 99% more likely to be ruling cf out then to to be diagnosed, people here helped set me on a path to...
Before results started coming back I was starting to wonder if I was grasping at straws and trying to make pieces fit into an old diagnosis. As someone who has dealt with depression, I have a family Doctor who likes to blame that for all my troubles, no matter how far fetched.
I now have the...
I will ask about it, but you are right, Canada is behind. From what I have have read, Kaydeco is only covered in my Provence for a single mutation at this point. With not actually seeing the doctor yet I can only go by what I can find online but it looks line the second mutation is a class 1...
Ok, got the paperwork
Two pathogenic variants were found in the CFTR gene. Test by multiplex-pcr analysis for 39 recurrent pathogenic variants in the CFTR gene.
R117H
1717-1G>A
7T/7T
Sweat test 74
from what I have read the R117h is mild.
I'm in Ontario, Canada. I was first diagnosed in 74 at 7 months old when I had staph pnemonia. At that time sweat tests were mid 60's to mid 90's. Also had pancreatic stimulation test which showed no bicarbonate or enzymes. After about age 5 I seemed to really improve with little problems. By...
I called my doctors office, it maybe tomorrow or Thursday before I can pick up the paperwork, my dr is not in today and he needs to sign it first. I will post it as soon as I get my hands on it. Thanks. I am also starting a list of questions for when I have my clinic appointment.
The receptionist called this morning because I had called twice I guess the doc gave her the ok, she asked if I wanted her to give me the results over the phone even though she couldn't answer any questions. I said yes. So, all I know is the genetic came back and I have 'mild' cf. The cf nurse...
Just a little update, I've had all the tests the cf dr wanted so far. I called his office Friday and didn't hear back, called again today and his receptionist said he would be in briefly today then he was away for the rest of the week. Through my family doctors office I found out I failed the...
My immunologist realized my WBC had been raised for at least 7 years ( as long as he had paperwork for) and sent me. I just got off cipro a week before seeing the hematologist and it was still raised. Once all the results are back I will be pushing for some answers, and more tests if needed. Thanks.
No news on the genetics yet but I had a methacholine challenge for asthma/hyper-reactive airways ( at least I believe that is what they said it was for) and I failed it. I had a reaction to the second dose and my lung function dropped 26%, the tech just said it was a moderate reaction and I...
I only talked to the doctor on the phone about the results so far, he said I could be a carrier with a high sweat test. I haven't heard of that. The genetics were sent to sick kids hospital in Toronto Canada. From what I could find this is all the testing they do here in Canada...
Thanks, I will keep you posted when I find out about the genetic results. For now I need to put it on the back burner, I have a nurse coming to teach me home self infusion Friday for my angioedema so for now I need to focus on that. Thanks for the support.
This will actually be my second time diagnosed if it happens. I was very ill my first year of life and by the time I was 8 or so they though I was too healthy too be a cf kid and undiagnosed me. Thanks.
Thank you both, I do believe if the genetics come back with mutations I must have a mild form. On the phone the doctor mentioned I may be a carrier with a high sweat test? In all the reading I have done I have not come across that. Is that even possible? I'm not even sure if/what treatment they...
I just got my sweat test results and they came back at 74. Still have to wait on genetic testing results due mid- end October. Not sure what to think right now.
Thanks to all the advice I've received on here. I had my appointment at the clinic. The doc doesn't think it is too likely it is cf causing my problems now but because of by previous high sweat test levels and childhood diagnosis he wants to retest everything. I am having a ct scan of my sinuses...
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