Update on Cole and genetics

Ahh it has been so long yet again since I have updated!

Cole went to another genetics appointment yesterday. It went very well. He has pretty much been cleared of MPS, which is excellent! The new plan is to test for lysosomal storage disorders, and if that comes back clear, then his doctor will do a complete DNA work up and look for any abnormalities in his chromosomes. He had blood work done yesterday for the lysosomal tests and it will be sent out to a guy in Philadelphia (the doc said this guy is the best!) so it will be about 2 to 3 weeks before we get the results. What a long wait!

Figuring out what is going on with Cole is kind of like trying to find all the pieces of a puzzle. A really big, scattered all over the place kind of puzzle. Because he has the developmental delay, the hydrocephalus, and an abnormalitiy on his lower spine, it makes his doctors questions what is going on with him. If there were just one symptom, they would possibly chalk it up to just a delay, or just hydrocephalus, but because there are multiple things all together, it makes them more concerned.

The nice thing was that his genetic counselor (who is amazing!) told Jon and I that we are doing everything that we should be doing to help him. He goes in for a speech assessment on September 14th, and he goes to his young toddlers group still too. He met with a new genetics doctor too. He was really nice and great with Cole. His old doctor retired. I really loved her, but this new one seems pretty good too :) His genetic counselor is really great at explaining everything to us, and she is great at taking all of my calls too! I start hounding her for test results right at the 2 week mark. I am his advocate, and boy do I take that seriously!

Our new mission right now is to get the approval we need from our health insurance to do the DNA testing. I am hoping and praying that it will be easy to do this and then we can me on our way to finding out what is up with my sweet baby boy!

That is all I have for now :)