Read more about the article It’s incredibly frustrating when the answers you get aren’t the answers you want
Gavin / My thoughts / Probably Genetic

It’s incredibly frustrating when the answers you get aren’t the answers you want

I met with Gavin's genetic counselor this afternoon, to go over the results of his exome sequencing. This has been a long time in the making I want to give a huge shout out to Probably Genetic for all their help. Essentially, what I learned is that we really didn't learn a whole lot. I say that because we didn't find answers to the many questions we've had for a very long time. That happens and it's for one of two reasons. The first reason being that there's nothing wrong and the second being that science simply hasn't identified everything yet. There are limits to our scientific knowledge but as that knowledge expands, answers may appear as the data is reinterpreted. When I say we didn't learn anything, that's not…

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September 26, 2020
Read more about the article I can’t stress how important this is
Gavin / My thoughts / Probably Genetic

I can’t stress how important this is

I have a meeting tomorrow that's 15 years in the making. This week, I received an email from Probably Genetic, informing me that Gavin's genetic testing results have come in. The report I received explains that there was a one mutation identified but I don't have the expertise to fully or even partly understand what it means. It does appear to have something to do with electrical activity and his heart. Genetic counseling will provide a great deal of insights and explanation of everything. I have a video conference in the afternoon where I'll get whatever information is I can, digest it, talk to Lizze and figure out what to do. This is the first time in 15 years that we have found something on a genetic level and hopefully,…

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September 24, 2020