Genetics

 After the more common genetic testing was done, we had to go a step further and do a more in depth testing. It's called Exome Sequencing and it looks at tens of thousands of markers in our DNA. It's a simple blood test, but it takes 4-6 months to get results. Both Jeremy and I had to give blood as well to check if we may have passed on something individually or if we both had a dominant trait that went to Henry and made him this way. 

Talk about a long time to wait for results that may or may not change the course of treatment action. So while we waited, we continued therapies and just getting through the days. It helped alleviate a little of my stress because I felt like we'd done everything we could up to this point and now we just have to wait for the results. Of course something had to come back, right?! Why else is he the way he is?

WRONG. Around Henry's first birthday we got the results back and they were Inconclusive. No joke. The genetic admin called us and was as surprised as we were, but had nothing else to really offer us. They reviewed everything and nothing stood out as to why. So, we went back in to talk to the genetic doc and see any possible next steps. They referred us to the Undiagnosed Disease Network. They do an even more invasive testing called Genome sequencing. It tests the rest of the DNA, but rarely comes back with any results and if so, they are so rare there isn't much information out there to even know what to do. 

You have to have a doctor referral, be 'accepted' into the program, donate more blood and it could take up to a year to get anything back... to say defeat is what we felt is an understatement big time. 

A whole year of taking care of a newborn, essentially. A year of not knowing if my child is ever going to see, hear, crawl, walk, etc. It's exhausting and draining on so many levels. And we just want answers. Peace of mind I guess. I know it may not change much, but having a 'diagnosis' would help with all that unknown. 

Which is why a big part of me really thinks Henry's issues stem more from neurological issues than genetic. Something stopped developing in him. There was a point that his brain stopped firing the signals and everything got lost in translation. I joke the marbles in his head got knocked loose and he is always trying to get them back in. lol 

And who knows, maybe Henry does have some extremely rare genetic condition that we just haven't found yet, but for now, we're doing all we can to help him have some quality of life. Build a bit of independence. It's exhausting, but rewarding at times. But we won't be stopping anytime soon. Henry's got a whole village behind him. Rooting for him. Praying for him. And it's amazing.