With our sweet little Christina we receive lots of questions from lots of people; friends, family, and even strangers. And we welcome all questions and are happy to answer them and we don't easily get offended! I thought I would answer the questions I get asked the most often because I think for as many people that do ask, I think there are many others that notice her and don't ask, whether they are too nervous or don't know how. So don't be scared to come up and talk to us! We don't bite! (She does drool a lot though...) We are very open and happy to talk about our sweet Christina and after about two minutes with her you will be in love too!
What is her diagnosis?
I could spend an entire blog post explaining Christina's and my genome microarray and I would likely bore all of you. (Maybe a few people would find this interesting, if so let me know and I can do that!)
But as simply as I can, the name we give it is Trisomy 2q. There is no syndrome name or anything like that. As briefly and simply as I can describe it, in every cell Christina has an extra part of her chromosome 2 sitting on her chromosome 13 where some of 13 was deleted. This specific trisomy only runs in my family and she is currently the only one in the world who has it. (My brother James was the other person!) When you don't have the exact right amount of chromosomes problems occur. In Christina's case this resulted in physical abnormalities and severe mental retardation.
Did you know you were going to have a handicapped baby?
Yes we did. I didn't have an amniocentesis with Christina (where you can test the chromosomes). With Claire I had an amniocentesis and we knew she was chromosomally a female with a balanced translocation even before she was born. So with Christina we didn't have it on paper officially that she had trisomy so I suppose we were only 99% positive. From ultrasound we saw lots of problems and red flags. And since I knew I was a carrier we knew it was a 50/50 probability. The moment she was born and I saw her face I knew for certain she had the trisomy.
Is she blind?
She is not blind, but is likely legally blind. She obviously sees light and it appears as though she sees others things as well. She notices things that have high contrast like a bright pattern or things that are moving. She sometimes looks at her hands or other things in close range. I also think she sees and recognizes our faces but its hard to exactly tell since she clearly recognizes our voices and that may help her determine who is who.
What is wrong with her eyes?
Lots of things!
She was born with glaucoma. Which is the failure to properly drain fluid from the eye so fluid builds up and causes increased pressure. From what I understand about glaucoma there is a channel between the iris and the cornea that allows for drainage. In most cases of glaucoma this channel is blocked or in children it can be underdeveloped. In Christina's eyes the channel doesn't even exist. She has had several surgeries to insert very small tubes to artificially drain the fluids. She also has several eye drops to help alleviate high pressure. At this point, the tubes in her eyes have developed scar tissue around them, causing the tubes to lose some efficacy.
Christina also has abnormally large eyes and the build-up of fluids doesn't help! She also has abnormal facial features, including small eye sockets. So with this combination her eyes bulge out. When she was little she slept with them wide open and at one point she greatly scratch her right eye and caused some damage. We put lubricating medicine in her eyes every few hours to keep them from drying out. She also has her right eye partially sutured closed to help prevent getting too dry. Her eyes still don't fully close when she sleeps but they close much better than when she was younger.
My brother James ended up losing his right eye due to lots of damage from glaucoma but his left eye was in good condition. Her right eye also appears to be in worse condition then her left but her left eye is also not good. Our goal is to preserve her vision and the actual eye its self!
Why does she hate the light?
The glaucoma causes her to be light sensitive. But her extreme light sensitivity is not fully explained by the glaucoma. What is funny to me is I also have sensitive eyes (in every family photo taken outside my eyes are always squinty or closed!) so I didn't help her any in the eye department!
Will she always have a feeding tube?
Probably. At this point she only eats from the feeding tube. When she was born she drank milk from a bottle but it was too hard of work and she was unable to grow. She now would be strong enough to eat orally, but because she was fed from a feeding tube she started to unlearn how to eat and now she doesn't like food in her mouth. We are working on training her again, but its hard because she still doesn't sit up well and she will fight you and gag with food in her mouth. We are okay with her to have the feeding tube, it has been such a blessing for her and for us. But we would like her to supplement with food orally. We think she could learn to like certain sweet, yummy foods that could be enjoyable and fattening for her!
Will she walk?
Yes we think so. It may take a few more years. She has physical therapy and she needs to work on general strength training. But in time she will walk. She has scoliosis and tight hips and joints that will keep her from walking normally but we are confident that she will be able to uprightly walk - probably with an odd gait - from A to B that are in close range.
Will she talk?
Probably not, but we don't know. My brother, James, never spoke. So that leads me to think no. Her severe mental retardation mixed with her partial hearing loss doesn't encourage the development of speech.
How long will she live?
We have no idea. The only data point we have is my brother who lived until he was 19 years old. Christina does seem to be more frail than he was. I wish I knew the answer to this question. I remember when the doctors finally let us take her home from the NICU, I said to one of the doctors I just don't know what to expect with her. And what he said wasn't very helpful... He said, "she might die in the car ride home from here or she could live to 65. We really just don't know."
For someone who is a planner like me, this is very frustrating. I usually can cope quite well with difficult situations. But of all the things we have to deal with Christina, this particular thing of not knowing is my most challenging thing. I would just like to know what I am coping with. Is it a sprint or a marathon with little Christina? I am happy with either situation, I'd just like to know which one it is! But, ironically, now I am coping with NOT knowing. If she were to die tomorrow, we would be sad but we would be okay. We love her and enjoy her life as much as we can and we are at peace no matter what happens. The planning side of me worries about if she does live into adulthood and were to survive Brian and me. Luckily I know a really good estate planning attorney (wink wink, that's Brian!) to set up a special needs trust to make arrangements for her.
And just look at her tolerating all this sunshine!