Sunday, June 1, 2014


I haven't written in a while, again. I feel like I've said that every time I write lately. 

It has been a exhausting month (or so) full of doctors and blood tests. Searching for answers. 

While all of this has been overwhelming, it is also comforting. Listening to the results was overwhelming and sharing them with family was even more so. It took me a while to work up to writing this post to share with all of our friends. 

Noonan Syndrome. 

Two simple words. All of the answers possibly wrapped up in two simple words. The genetic specialist believes Connor had Noonan Syndrome. This would not necessarily be a fatal diagnosis. Why was it for Connor? We will never know. 

If you decide to Google Noonan Syndrome, please look at support websites. They are the kindest way to find out information. You will see pictures of happy healthy kids and adults. Noonan Syndrome effects learning, heart and blood function, appearance, and other things. 

We will never know 100% if Connor for sure had Noonan Syndrome. It is impossible to give a 100% diagnosis, since he isn't here to run more tests. However, pretty much everything in his autopsy adds up with Noonan Syndrome. 

I didn't feel like this blog, which I have used to document my grief, would ever be truly complete without including these results. 

They ran extensive tests on me, and nothing alarming was found. This is good news. This means that Connor's disorder was most certainly a "sporadic mutation". While that sounds like a bad thing, it just means that it wasn't in our genes. This mean that there is pretty much no chance of it happening again. This gives some comfort moving forward. 

1 comment:

  1. I was thinking of you today. Lifetime replayed return to Zero. Although I was not able to finish watching it, what I did see was a very well done, sadly accurate movie,

    As for your blog post, I am glad you have some kind of an answer. It does not "make it better", but at least you know something.