So we had some great news this past Friday. I will share with you but have to add a little background first. I'm attempting to do this while watching football so bear with me. I have explained in the past that Hypertrophic Cardiomyopathy is a genetic condition (most of the time) passed on through family members. If you can identify which genetic mutation you have then the rest of your family (present and future) can be tested for that mutation. So everyone can be ruled in or out for HCM. It is important to note that not everybody that has the mutation will express it with symptoms of HCM but one can still pass the gene on to their children. These children may then express it with HCM and possible instant death. Point being if you know the mutation you can rule people "in" or "out" which makes the course of action definite. The problem is that although science knows some of these genetic mutations there are invariably thousands more that they don't know of. So it's really a flip of the coin if the genetic test will amount to an answer.
According to our cardiologist at Mayo Clinic there was a 70% chance they would discover my genetic mutation with a blood test because of the shape of my septum. Kellie and I chose to see a genetic councilor while at Mayo with the decent odds of finding an answer. These tests are rarely covered my insurance and are quite expensive. Again this is where our luck took a real nice turn. One of the genetic testing companies was having a special that would cover the remaining expense of the test after we paid the balance of our deductible. LUCKY for us I had reached our deductible a loooooooong time ago. So the test was free. No brainer, right? Take more blood please! They told us we'd hear of results in 8-10 weeks.
So I forgot about the test until last Friday when I received a call from the genetic councilor at Mayo and she told me they had identified the genetic mutation associated with my HCM. For all you science nerds (my lovely wife included) the genetic mutation is MYBPC3. Yep wrap your brain around that fellas....if you google it (as I did) there are many scientific papers on the subject. Most of them seem to be written in Chinese but one of them did state it's the mutation that is associated with HCM in cats. I'm pretty sure that another paper will tell me it's also associated with people....at least I hope so. If not I got bigger problems than I thought!
Now we can rule in or out my entire family. This will allow Kellie and I to test any future children we might have. This really makes a HUGE difference. This test could save someone in my family's life and that is a very reassuring thought. Science is a crazy beast...that is for sure. Sorry for the long, drawn out explanation. I am fairly confident that I explained this correctly. I'd say about 70% confident. OK back to football!!!!! Philly's on the comeback. Word!
Have a great rest of your weekend people. Lots of love,
Steve
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4 comments:
well apparently football was completely neglected for a while because that was amazingly detailed and easy for a non-science, and i'd like to think: non-geek (me) to understand! ...only the cat part worries me. but i figure that's more your and kel's prob than mine. very good updates!
Wow, does Toby know you are part cat?
Toby hasn't figured out my true identity but when he does I'm in big trouble. I'll probably just climb the tree in the back yard until he comes to terms with it. Tell Kel not to call the Fire Deparatment I'll come down when I feel safe.
So Steve is pretty much correct but the mutation IS associated with HCM in humans.....no worries about some feline DNA being mixed in people!
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