So, I started this post a couple weeks ago, but never finished it. So here is the part that I wrote before...
Alot of you saw on Facebook that I posted that Fiona's oligoarray (a test that looks for specific duplications or deletions on each chromosome) came back normal! This is great news, but it doesn't just stop there. On one hand we are very happy that it came back normal, but on the other hand it just means that we have to keep looking for answers.
Most of my posts keep things to the fact- what is going on with Fiona and how she is doing. Rarely do I post about how I feel. But all of this genetics stuff is very frustrating. I can't tell you how many hours I have spent researching things and looking for answers. My head is constantly spinning and I feel like most people just don't understand. Most people have no idea what it's like to just KNOW in your heart that something is going on, but no one can seem to figure it out. I am not one to just pour my feelings out there, so people see what I want them to see. No one sees the things that we struggle with on a daily basis. No one sees what goes on in my head. I'm not saying that things are horrible, because they're not. She is AMAZING and I love her to death. She is smart and beautiful and I would not change her a bit. But things are complicated. It is very frustrating when no one can give you an answer or a solution so you just have to figure things out on your own.
I'm not saying all this because I want you to feel sorry for us or because I want your pity. I say these things for a chance for you to understand...
And now on to the test results:
Last Thursday (March 8th) Fiona had a bone survey (which is basically an x-ray of every bone in her body) and a bone age test done. I just talked to the genetic counselor last night and she gave us the results.
The bone survery didn't really show anything that gave them any sort of clues. The only thing they really noticed was that there is a slight increase in the distance between the discs in her spine. But apparently this is not really an issue.
Her bone age test on the other hand showed that her bone age is very delayed. She is 27 months old and her bone age is 15 months. This basically means that her body thinks that she is 15 months old, which is why she is so small and growing so slowly. Ok, so now we sort of have an answer as to why she is so small. The bad news is that a delayed bone age isn't really an answer or a diagnosis in itself. There has to be a reason that she has such a delayed bone age.
One "good" thing about this is that maybe now I don't have to worry so much about how much she is eating and how many calories she is getting. I mean, I still have to make sure she is gaining weight, but I know that she is always going to be small no matter what she eats or how many calories she gets. (I am going to call her nutritionist today just to be sure about all of this)
So what's next? We will start DNA testing for a group of disorders that her geneticist thinks she might have. We will also be seeing endocrinology (hopefully soon) because they deal more with the growth part of things.
There is never a dull moment around here :)