Don't get me wrong, I love being a mom, but what I love more is being Erik's mom. He is progressing in his development, easily moving into his 2 year old "attitude", and growing more comfortable and confident with his curiosity.
While life at dr's offices is calming down, there is still the lingering unanswered question of, "what does Erik have, anyway?" We are beginning to get the, "Well, I'm not sure what this is.", answers. In the DNA test that cleared Sean and I of being carriers of whatever Erik has, it states, there are no other cases reported that include both the deletion of the section of DNA and the developmental delays. Normally, when this specific section of DNA is deleted there is nothing else "going on". The lab who conducted the test would like to do a case study on Erik; however, we are very hesitant on proceeding since we don't have any answers as of today. We might consider this as Erik gets older or once we find out more of what we are dealing with. We aren't quite ready to offer him up as a test subject until we are confident that he is getting services and support to benefit his development and function.
We are scheduled to see an ocular geneticist, in September, to help determine more specifically what we are dealing with in regards to his eyes. We saw a retinal specialist in July. It was great to get connected to the dr. since we will have to see him every year; however, he was not able to confirm what the DNA test were saying (Stargardts). He said the only way to get a good look at Erik's retina was to put him under anesthesia. He did not feel it was appropriate to put him under only for the tests. The dr felt it would be more appropriate to perform the test if there was another reason he was going under anesthesia. We were very thankful for his perpective, because Erik has been under anesthesia enough.
So we shall see how things develop. Our geneticist continues to gather test results and make recommendations in order to move towards a diagnosis. For your viewing pleasure and incase you weren't able to see it on Facebook, I have included the video of Erik crawling... Enjoy!
