If you've been following our story for a while, you likely know that its been on a very long, very challenging journey with Gavin for most of his life. If you're new here, I'll give you a bit of backstory, to help put the significance of what I'm about to share with you, into the proper context.
Gavin will be 20 years old on January 18, 2020. He deals with more than his share of serious physical and emotional health issues.
Gavin began regressing about the age of 4. The only way I can describe it is to say that he was put to bed Gavin, and he woke up an entirely different kid. The change was simply that profound. I know this sounds crazy but it was like someone had replaced him with a very robotic, emotionless and detached version of him. I literally had to get to know him again. His likes and dislikes changed. He went from a very affectionate child to someone who didn't want to be touched.
This began a long, desperate and exhaustive search for answers. Something was wrong and while he would eventually receive a diagnosis of Autism, that never quite fit or explained everything.
The search for answers took us to Akron Children's Hospital and the Cleveland Clinic. Gavin was lucky enough to have access to some of the best doctors in the country and in some cases the world, but no one could figure out what was going on.
Long story short, Gavin has been diagnosed with Autism, more specifically, Childhood Disintegrative Disorder. He has Epilepsy, Asthma, a very rare Autonomic Disorder, Common Variable Immunodeficiency, Schizophrenia, Ehlers-Danlos and is profoundly cognitively and emotionally delayed. He has literally had every conceivable test done to figure out what was going on. He's had everything from Chromosomal Microarrays, which is a test that analyzes chromosomal rearrangements but isn’t high-resolution enough to look at individual genes, to muscle biopsies, MRI's, countless labs, and even spinal taps. There are too many tests to remember, let alone list here. The point is, for the most part, everything has always come back normal.
As a parent, it's very frustrating because I know that statistically, it's improbable that he can have all these incredibly rare conditions and not have them somehow linked together by a root or common cause. Unfortunately, nothing has ever been found that links everything together. The current working theory is that this is all tied to Childhood Disintegrative Disorder, but there's no way to know for sure.
To be honest, I had pretty much given up all hope of ever knowing what is going on and if there's something that can be done to better manage or treat these many conditions. I have always struggled because I didn't know for sure if everything that could be done for him, was being done. We never wanted to put him through anything more than what was necessary and after a while, any practical directions to go in had run out.
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.
