ADDISONRetrun to 22q Stories
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Where to Begin? November 29, 2009 We were getting ready to have Thanksgiving dinner that night. We got to my mom’s house about five minutes from ours and just felt crappy. Couldn’t eat, finally laid down for a bit was not helping. A little while later I got sick, I knew something was wrong then. My husband and I got in the car and headed towards the local hospital. On the way my water broke if I hadn’t known before then I knew then we were in trouble. We got to the hospital got upstairs to delivery and 7 minutes later here is our little girl. This was my first pregnancy had no idea I was having contractions all afternoon. I had just been to our OB the previous Monday and was getting ready to go the next day. Everything had been fine, all tests and appointments were going normal. I did found out when we had our first ultra sound that I have a bi-uterus, though, which could cause complications.
So, we had our little girl.
I had no idea what was going on if she was okay, if she was breathing, etc. A little while later we were told they have her under control and she was being transported to Springfield (about 45 minutes) from where we were. That was fine. I got to see her for just a few minutes before they took her away. I was scared to death. The first few weeks we were just trying to make sure she was gonna be okay or not. They were concerned with her brain bleed and getting her breathing under control. About three months or so into being at the NICU I get a call they wanted to do chromosome testing I said go ahead. I wanted as much information as possible. Of course she had lung disease from being premature, etc. But, by then she had been doing as well as could be expected if not better then the doctors and staff originally had thought she would.
Later that week we find out she has DiGeorge Syndrome (aka 22q11 deletion) WOW! That’s a lot to take in. We talked to the doctor that ran the testing got the information we needed and said okay here we go. She has no facial features that you can tell no heart problems no problems with eating, etc. So it was a lot of she could have this could have that.
She has had two surgery’s one for her eyes to get corrected, and tubes put in her ears for infections. She is now 2 years old! and doing absolutely wonderful. We have OT, PT, and DT coming in once a week to work with her. Speech has seen her as well. She is still playing catch up on developmental growth which she can do up till age 5 I believe. She is standing better now and hopefully will walk SOON.
But, we’re taking that one day at a time. She can sit with support just not on her own yet. We are giving her all she can have at this point. We go to our NICU follow up in March and go from there. It’s a daily struggle to remember how far she’s come and the strides she’s made and will continue to make. She is a very upbeat happy, healthy, smily 2 year old. She is our miracle child. She is now showing her lovely personality, as well as hitting her terrible two’s at the same time.
She has a love for Olivia and Bubble Guppies, any of her musical toys that light up or make noise. I have done a lot of research on this prognosis and she does not show any of the typical aspects of it. We will continue to go one day at a time. She has always had HER own time for everything and we’re sure that will continue. She is just our little angel and will continue to make her happy and make sure she’s healthy. We never take a day for granted. Thank you for all your doing for this cause!