Aria's Deletion

As many of yo already know, our sweet little Aria has Microdeletion Syndrome. What this means is that her 15th chromosome is missing some genetic material. Try not to focus on that word syndrome, syndrome sounds very scary and life threatening. All syndrome means is that medical professionals have grouped a number of symptoms and have lumped them into the same condition. This particular syndrome has the potential to be life threatening or it's even possible that Aria is just missing some DNA and it won't effect her one bit. We just don't know and that's why we're meeting with all of these specialists. This little sweet girl is the world to us and we're going to do anything and everything it takes to figure out this little body of hers.

So here's a run down of all the specialists she has and will be meeting with:

Neurologist: Met with the neurologist last week and Aria cognitively is doing so great! She is just so smart. I had no doubt about it. I can just look at her sweet face and I know that she is all there and I know that she is so bright. She is such a little copy cat. She can just watch someone do something just once and pick it up just like that and do it herself. She also is getting so great with her words, I'm not sure she knows what they mean, but she can just repeat so many things. She's learning 5 new words each week. The neurologist says that Aria is although really struggling with muscle tension and he really wants to see some major improvements. If there aren't any improvements in the next 4 weeks we'll have to take her in for an EEG. This has been the scariest aspect for me because to be able to do this they would have to put Aria to sleep. This was all before her blood tests results came back with the Microdeletion Syndrome. A symptom of this syndrome could be seizures and because of this they'll definitely have to do the EEG. We'll go back in a few weeks for that and to follow up with blood tests that they did about a week and a half ago.

Early Intervention Specialist: Met with these lovely ladies this week. With Aria's blood test results, medically she qualified by those results alone. Based on her development and age she qualified as well. We're just happy that she will be getting the help that she needs. We've got a very positive outlook that she'll be able to catch up and hopefully have that normal life that every parent hopes for their children. I know that no matter what happens, Aria will always be "normal" to us. She already is. Everything that she has gone through so far we've adapted to and it's just another piece of her that makes her wonderful and unique.

Audiologist: We haven't met with the audiologist yet, that will be next week. I don't really think that we have anything to worry about when it comes to Aria's hearing, but I would rather be safe than sorry. That has been my philosophy through this whole ordeal. I really didn't think anything was wrong with Aria at all, but decided to go through with all of these blood tests for peace of mind in knowing. And I can say that I am glad we did, and although I don't think anything is wrong with her hearing, you just never know.

Geneticist: We'll meet with the geneticist and the genetics counselor on April 4th. They'll draw more blood from Aria and quite possibly from Chris and I as well. There is a 75% chance that one of us past this down to her with out even knowing about it ourselves. She also has a 50% chance of passing it down to her children. Hopefully we can find out more about what this deletion is going to mean for Aria and life soon.

Cardiologist: I took Aria to see the cardiologist this morning and I was so nervous, but it went great!! Aria has a perfect healthy heart. Sure she has a hole in her heart, but they say that's normal. A hole in the heart can be a precursor to genetic issues, but majority of the time these holes close on their own  by the time the child is 2 years old.

What is all of this going to mean for Aria? Well, like I said before, it could just mean that she's missing some genes and she'll be perfectly fine with out them. That's the hope, but with all of the issues Aria has had in her life so far and new tests results from today, that's highly unlikely. All of Aria's weight gain issues and developmental delays can be traced back to this deletion. Some other symptoms of this deletion are autism, anger, rage, aggression, schizophrenia, heart defects, facial abnormalities, behavior issues, developmental delays, intellectual delays, epilepsy, and ADHD. I'm sure there are some others not listed. This syndrome effects about 1 in ever 40,000 people. I think I read somewhere that the first documented case was in 2008 and there have only been about 150 documented cases since then, so this is still pretty rare. I'm almost positive that there are quite a few that are just undocumented.

We have such a positive outlook for our sweet Aria. Everyone that I've spoken to, I've had to remind, this is our little girl and she is just fine. She is no different today with these results than she was 2 weeks ago. She is so great and has been making some great improvements these last couple of weeks. If we could only get her walking, and I'm sure that will come with time, along with everything else.