How @ProbGenetic is helping us take a MAJOR step forward in the search for answers

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  • Post last modified:January 22, 2020

I had resigned myself to focusing on the quality of life over anything else and frankly, I sorta moved on. The limits of what was possible to test for at the time had been reached, and no one could find a reason for why his health took such a sudden, drastic turn.

About a year or so ago, I began consulting for a new company called Probably Genetic. Probably Genetic was founded by a couple of PhD candidates in the field of genetics, with a specific focus on rare diseases. They knew how important genetic testing was for an accurate diagnosis. This was especially true for kids diagnosed with Autism. Quite a few rare genetic diseases present similarly to Autism and go undiagnosed because genetic testing is still very inaccessible to most people.

Their mission is to make genetic testing as accessible as possible and help with the diagnosis of underlying rare disease, that so often goes undiagnosed because no one is looking. These rare diseases need to be identified in order to better understand what’s going on and improve treatment plans or make them more effective.

Gavin is in the process of having full genetic sequencing. This basically means that if something is present and it’s known to science, it will be found. He’s never had an opportunity like this before and the idea of better understanding what he has going on is something I had given up hope of even obtaining.

Gavin, Emmett and their mom are having this testing done. Gavin is not genetically related to me (I adopted him) and so his mom needs to be tested. Emmett has some rare health conditions, so he’s being tested as well. Elliott and I are not currently being tested but we may in the future.

Full disclosure, the testing is being done at no charge as part of our partnership. My evaluation of the process we will be going through will be honest and transparent. I will be documenting this in order to help you all understand the process, how it works and how to navigate it.

There is no guarantee that they will be able to identify what’s going on with Gavin but this is the closest we’ve ever been to finding answers. To be completely honest, this is very emotional for me because I want. so badly to help Gavin reach his potential and live a healthy/happy life

I’m prepared to learn new things, even if what I learn is not good. I’m also prepared to hear that nothing remarkable was noted. The important thing at this point is that there is a solid chance that knowledge will be gained and knowledge is power.

For more information about, please visit Probably Genetic. I’ll be documenting the entire process. Stay tuned for more updates. They’ve been kind enough to provide me with a discount code to share with all of you. If you use the code theautismdad100 at checkout, you will save $100. Their goal is to help you find the answers you’re looking for.

Rob Gorski

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

This is so interesting, thank you for sharing. Our son is adopted and the whereabouts of his birth parents are unknown. Does a birth parent also have to be tested in order to gain information about the child?

Mylinda Elliott

Were those test painful to him? I have always wondered…

Curtis G.

Hoping you find the answers you are looking for. We all want to give our children as healthy and happy a life as possible.

BJW

I’m glad he has this opportunity. I know if I could find a way to give Henry a better life, I would. Hope this points in a positive direction for treatment. If not, at least you will know more and understand it better.