We had our follow up appointment today at the geneticist. It was a follow up appointment, so I was hoping for a quick look over and an all-clear. Not so much. It was a good appointment, but we left with another appointment for 6 months from now. Our doc is not so sure that it's anything, but he's also not convinced it's nothing. He told me he was perplexed with Hope. She's already confusing men. :)
Here is what we do know: Hope has an abnormally large head circumference. It's also very long - as in front to back, not top to bottom. This is quite obvious if you look at her from the side. She has a protruding forehead. She has sunken eyes. She has a flat bridge of her nose. She has a belly that sticks out more than the average belly. She has a noticeable space between her big toe and the second toe when she stands. She has short arms. If you stand up with your arms to your side, your fingertips might reach mid-thigh. Hope's fingertips reach just below her hips. She is on the very tail end of developmental milestones - particularly in speech. Her spine looks fine.
All of these on their own would not be much to cause concern, but because they are all present, there is some concern. There isn't enough 'evidence' to really diagnose anything, and many of these issues are quite mild. But there are too many factors to dismiss them. So, we wait. We'll wait to see where she's at in 6 months. Our doctor is going to be doing some more reading and research into it.
Many of these factors you would see in someone with Skeletal Dysplasia (dwarfism). The interesting bit is that someone with all of these factors with skeletal dysplasia would typically be at about 3% on the percentage chart for height. Hope is at 50%. Thus, our doctor is perplexed.
I'm really feeling fine about the whole appointment. I've been concerned from the start about her head size, and I'm pleased that we have our pediatrician and our geneticist who are keeping an eye on things. I'm not living in fear, I'm not overly anxious, I'm really at peace. Even in the waiting. I know that my Lord has made his little girl just the way she is supposed to be. And I will do my best to love her, nurture her and keep her healthy as long as she is in my care. She is a blessing to our family and I love my little Hopey!
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