Update time! :)
Hey everyone! Update time 🙂 Sorry it has been so long since I last posted. My health has been forcing me to slow down quite a bit lately but I must be honest, I miss writing here regularly and hope to be back full-time soon. : ) Today was pretty eventful though so I didn’t want to miss the chance to update you all. : )
David and I went back in to the genetics office today and got some feedback and answers we’ve been waiting to get for a long time. We also have a couple new paths to take in our search for answers and help, one being a path that caught me off guard.
First of all, I got to find out today that David does NOT have a Carnitine Deficiency. That is good news for us as false positives on those tests are very rare, and having a Carnitine Deficiency can be everything from so mild it’s just a simple diet change to so severe it could cost a child his/her life. When the doctors first told me David had a test come back positive for this stuff and at a metabolic disorder level on top of it (the kind that could eventually kill him) I was understandably stressed out and beside myself as we all worked together to try to get the further testing done to find out for sure. Today’s news offered MUCH relief on that note to say the least.
Second of all, we still had to get more labs drawn today (which David is extremely petrified of… poor little guy…) but this time it was for something totally different. And due to a receptionist/appointment scheduler whose organization skills seem to be lacking a bit lately, I didn’t get to find out what was really going on today until I showed up and met with the genetics counselor again. I was under the understanding we had to re-do the Carnitine tests because the originals got wasted and were thrown out (which was NOT the case and that’s why I was finally able to get the answers I had been longing to hear for months now on that issue).
Nope today, the labs were being drawn for a genetic test involving David’s Autism. I didn’t even know something like that could be done for the average person so I was pretty shocked. At the same time, I found out that David has been officially marked as being at high risk for Ehlers-Danlos Syndrome (EDS) which is the chronic disability that has me down for the count and fighting for my health a lot. Before today, the only one I knew of that had been officially placed on the confirmed risk list was Joshua. David we all were worried about, but no one had gone further with it yet.
As for the Autism genetic testing, if I understood it all right, the reason my insurance is covering it and the doctors want it done is, generally speaking, a two-fold thing. The first reason is because David’s Autism is so severe and his issues so wide-spread, they want more answers. His case is unique and puzzling to most professionals that encounter him. The main thing I have heard most of them say that keeps him from an official full on severe/classic diagnosis (he is diagnosed “moderate to severe with severe developmental delays”) is the fact we broke through with language in his case. He talks. Sign Language being his most clear and his actual speech being at least 80% echolalia, but he’s still talking. In just about every other area, he tests so far into the severe range I have had doctors and specialists actually complain that they can’t even complete some of the tests because he simply can’t connect enough to do them.
On the other hand though, even with the extreme issues, repeated regressions, on and off seizures, cognitive delays, and more, David still manages to surprise and impress those around him on a regular basis with the things he’s able to pick up and do. Memorization and puzzles being two of his most impressive and his drawing skills are quickly developing as the second runner-up. His drawing skills have even turned into the key for teaching David how to write his letters again after all these years. I have an alphabet poster hanging at his level and he has taught himself how to “draw” the letters literally one stroke at a time. Using a similar path as the one I used to teach him shapes like squares, circles, triangles, etc.
All this paired with David’s unusual back history (I’ve been told several times his first severe regression happened at a surprisingly young age as well as that David was showing tell-tale signs since he was just a few months old) has the specialists wanting more answers and looking for them in any area that might produce some. Hence, the genetic testing.
The second reason has to do with David’s new standing as “high risk” on the EDS issue that I mentioned earlier. EDS is a genetic mutation that interferes with a body’s collagen and connective tissue to put it in its simplest form (there’s actually a LOT more that goes into it, but this post is already getting long) and even though there are no cures, there are limited treatments depending on which type someone has. With each genetic mutation though in a body, the ability to expect typical outcomes from ordinary things tend to become something of the past. So, based on what I could understand, they are wanting to know just how much of his genetic make up is messed up before going further with anything so as to not accidentally make things worse for him. Which includes not only trying to find the genetic base of his EDS but also that of his Autism (if there is one).
I am not sure when the results will be in, but you can bet your bottom dollar this whole thing has my attention big time.