Sunday, January 10, 2010

Pink Pearl

Today Audrey, Grandma Babs, Brian and I visited our opthamologist, Dr. Angela Moll for a monthly checkup. We have been happy with the care that she has given our daughter as well as the time she has been willing to spend with us answering the million questions that we have. Although the checkup didn't reveal anything groundbreaking, we were able to schedule appointments for genetic testing, which will give us a diagnosis, and an Electroretinagram, which will indicate how much of a response to light she has, if any. Although the prime suspect in our search is LCA (Leber's Congenital Amaurosis), mainly because it is the most common genetic retinal disease, there are still other possibilities left to rule out. Once we have a diagnosis, then we will begin looking for the specific gene that has caused her condition. Currently there are no treatments available for any of the retinal diseases, but we are encouraged by the very recent successes of human and animal trials as well as developments in gene therapy research.

After her dialation, Dr. Moll looked into her eyes and said that one of her retinas was pale in color and that she might have detected some granularity on both of her eyes. These are common characteristics in people with retinal diseases. She said 'maybe' and 'might' because it's all really to soon to know for sure. As she grows, we'll be able to get a better idea of what we're dealing with. Audrey fussed as Dr. Moll shined the lights into her eyes, which encouraged us that she might have some light perception. Another result that the exam elicited was that aside from her retinal issues, she's pretty darned farsighted, with a prescription of +7.

Although babies aren't commonly prescribed glasses because of their impracticality, Audrey has developed a couple of bad habits, namely tilting her head to the left (we think her right eye is dominant and that she tilts in order to compensate for the left), and rubbing her eyes. Both behaviors are very normal in visually impaired babies, but they are also potentially damaging, and so she was prescribed glasses with the primary purpose of protecting her eyes from her hands. She did get a prescription in the glasses too, which will help her if she has some workable vision.

Although I know that my baby fashion icon would look 'spec'tacular in anything she put on, I was a bit disappointed in the baby eyewear selection. I was envisioning cateyes or hornrims or some other retro-type look for her. The baby eyewear industry is in serious need of a muse and here she is! (I hope that those of you in the baby eyewear industry take note!) Most of our options either looked silly or didn't fit, but we settled on a practical shape that looked comfortable and now we're waiting to preview which shade of pink she'll be able to best rock. We don't want the glasses wearing her after all! She's most likely a winter, so pinks will look great in general, but I'm intrigued by the color 'pink pearl' for obvious reasons!!

The glasses are attached to a croakie-type of elastic band that wraps around the back of her head. The optometrist said that many babies hate the strap and often have difficulty adjusting. I told him that Audrey has worn either a hairband or barette in her hair practically every day of her life and didn't think it would be a big deal. He got really excited about that in a way that only a pediatric optometrist could, and he encouraged me to keep it up. As you might imagine, this was a moment of great vindication for me and one that I wish Brian could have witnessed since he gives me such a tremendous amount of flack over my insistence that Audrey be adorned with a large-scale hair accessory of some sort on a daily basis. As most of you know, I'm from the south and from birth I have been ingrained with the belief that big hair is really important (even though I spent most of my life fighting mine). So, as in Audrey's case, since she doesn't have big hair, she NEEDS to have a big bow. Hopefully the 4 months of accessorizing that she has under her belt will help yield the fringe benefit of a harmonious beginning with her new glasses.
We'll post some pics of Audrey in her glasses when she gets them. Stay tuned!!

2 comments:

  1. Hi there. I am new to your blog. It popped up in my Google alerts for LCA. Reading about your experiences brings a flash back for me when we first realized something was different about our daughter's vision. She ended up with the diagnosis of LCA. She is now almost 9 years old and we have a 3rd child (our eldest is sighted) who also has LCA. Just wanted to encourage you to hang in there and love on that baby girl. She will be just fine.
    LeAnne
    P.S. Here's a link to my blog where I posted about my dtr Heidi.
    http://oochakitty.blogspot.com/2009/08/my-dilemma.html

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  2. Hi LeAnne,

    Thanks for finding us! Beautiful family you have there. It is nice hearing from someone who has been thru this before. We will definitely take your advice; it's definitely not hard to love little Miss Audrey...;)

    Welcome aboard!
    -Brian

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