Monday, May 24, 2010

Pondering about Ladybug

I learned the official karyotype for the deletion that Ladybug has, today. (After deciding that it's not okay for the geneticist's office to ignore me about this.) It is 9(q)33.1 and specifically, she is missing 1 gene...the DBC1 gene. The genetic counselor told me that they aren't even sure what that gene does or is responsible for. I have looked this deletion up online and found only two bits of information about it. One piece of information that I found, was written by a mother of a little boy with this disorder (his actually involves a bigger deletion). She shared a detailed description of his life and his issues, and it felt good to know that someone else in this world understands what it's like to have a child who has these kinds of issues. It appears that this is quite a rare genetic syndrome. It is so rare in fact, that there is no official "name" for this syndrome yet. This technology is just "too new", and there is still so much they don't know. The genetic counselor has told us that the lab that did Ladybug's testing, doesn't yet understand how this will affect Ladybug or what this means for her. That makes me just a bit nervous. I wish that someone could tell us more about how this will affect Ladybug's life. But just as soon as I say that, I realize that we already know quite a bit about how this affects Ladybug's life. She is sweet and precious and innocent and precocious and moody and helpful and she has lots going on. She has severe sleep disturbance, she is G-tube fed, she has sensory issues and is self-abusive and she loves ice cream! She has autistic tendencies (and likely will be diagnosed with autism). She likes books and balls and would rather box herself in between the plastic bins, than play with the toys inside them. She is everlastingly sweet and precious! We adore her and love her like crazy! We don't know what this will do (if anything) to Lynzie's life expectancy (and maybe that's what really scares me), but we do know what her life is doing for our lives. She is a blessing, plain and simple. Someday, in the life to come, she will look over at me and start talking and never stop. She will understand what a birthday is and she will know how to sing a song. She will answer questions and she will ask if she can help me make cookies. Someday she'll ask me about her adoption and how she came to be a blessing in our lives. Someday her body will be perfect and she will learn how to count and tie her shoes and use the bathroom. I keep looking forward to all the things that Lynzie will be able to do someday...but I am always careful to remind myself not to miss what she is doing today. She is teaching me. She is teaching my husband. She is teaching her brothers and her sister. And we are gladly soaking it all in.

2 comments:

  1. thanks for sharing your musings on your sweet angel. I totally understand your grapplings with uncertainty; our sweet Hyrum has unknown prospects, and as older parents with delicate health, I wonder what will happen to him when we become feeble. Luckily his siblings adore him almost more than we do. More likely there'll be hard feelings over who gets to keep him than who inherits whatever else we might have to pass on. ;-) Kidding, of course, but he truly is a blessing. So happy that you are having joy in your journey as well.

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  2. hugs. I loved this post. not that there is so much uncertainty, but your ability to see her for who she is and beyond the unknown.

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