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 exactly the true. We did learn what it isn’t. I know that sounds weird but we did learn what Gavin doesn’t have. For example, Gavin didn’t test positive for the vascular form of Ehlers-Danlos and that’s huge. We’ve been worried about that. The counselor explained that the vascular form of Ehlers-Danlos is genetically detectable 96% of the time. 4% of the time, it apparently doesn’t show up…

Based on Gavin’s history, it’s reasonable to say that he doesn’t have that. Again, that’s really good.

The only thing that was found, is a variation of the AKAP9 gene and that’s it. It’s not a mutation and simply a variation of that gene, compared to the control. It doesn’t really mean anything at this time.

That’s it.

I will say that this is incredibly frustrating because for all the health challenges Gavin has, pretty much every test comes back normal. Basically, we always seem to walk away with more questions than answers. Don’t get me wrong, I’m grateful everything came back normal. It’s just that after 15 years of searching, I really want answers.

There are next step type options and that is whole genome sequencing. That’s not in the cards right now and frankly, we aren’t sure we’d gain any useful knowledge.

For now, I’m just happy that nothing catastrophic was found. We’re still waiting to get the results for Lizze and Emmett.

As for the session itself, I really enjoyed the conversation. Our counselor was very nice, knowledgeable and patient. I was peppering her with questions nonstop and she answered all of them. We discussed options going forward and that was that.

I was going to share the report but it really wouldn’t mean anything to most of you and there’s a ton of Gavin’s personal info there. It needs serious redacting. I will try to get a sample report to share so you can see what this part of the process looks like.

Going into this, I knew there was a chance that we wouldn’t find many answers. Probably Genetic makes that very clear throughout the process. All they can do is provide the information. Sometimes that information provides a clear path forward and other times, not so much. At the end of the day, we’ve been able to rule out certain, life threatening conditions that have been on our radar for awhile now.

I suppose learning what he doesn’t have helps. It checks things off a list and provides comfort in the sense that we don’t need to worry about some of the unknowns now. At the end of the day, knowledge is power and knowledge has been gained.

Rob Gorski

Full time, work from home single Dad to my 3 amazing boys. Oh...and creator fo this blog. :-)
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Curtis G.

You may have not reached the end of the road to answers, but at least you are a few important steps ahead of where you started.


It’s hard when what you know doesn’t give you solutions to work for.