A few years ago when I was first diagnosed with HCM, I had blood taken at a Toronto genetics clinic and sent to Harvard for analysis. An "unknown variant" was discovered - a genetic mutation that hadn't been seen before but that was quite possibly responsible for the cardiomyopathy, especially as, on further investigation, a number of family members were shown to have the same mutation.
I thought that was that, but according to a phone call from Dr. Sneakers' office, the Harvard people uncovered some new information just in the past month. ("Haven't they told you about this yet?" his nurse asked. No.) I'd had no idea that the research was ongoing, although I suppose I should have assumed it would be.
Anyway, to make a (very) long story short, Dr. Sneakers now thinks my genetics are "too complex" for a biopsy to provide any useful information at this point.
So, no biopsy. Which is fine, but I'm feeling totally out of the loop and not enjoying that very much. What does he mean by "too complex"? And why does a test I had for HCM influence his decision to perform a test investigating my supposed Brugada Syndrome? His nurse promised me an appointment with him just to sit down and talk about what he's learned.
I feel like I'm reading a book written in another language, and somebody has ripped out a bunch of really important pages just to make it even more confusing.
4 comments:
That's so frustrating! Sometimes, I feel like I need a medical degree just to understand my one diagnosis and all the associated tests. :-/
I hope your (future) appointment goes well with Dr. Sneakers and you learn how to finish that book. Maybe he'll even give you some of those pages back.
I'd feel off-balance, too, Helen, given your situation. And this, after going through the nervous anticipation of having the biopsy for weeks, too.
I wish you the best regarding your appointment with Dr. Sneakers. I hope he'll clear up the confusion and offer plenty of useful information. It just feels awful to be stuck in limbo.
Thinking of you ...
-Wren
How very frustrating. I hope the appointment clears everything up so you understand what's going on. And that the doctors can agree on a unified plan that will work for you. sigh Good luck.
Thanks, you three. :) I hope I learn more too. I have a feeling the answer is going to be "we just don't know," but at least it's something!
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