Olivia has started to say "hi" or "hey" with some regularity. I would say that she does this 2/5 times. Don't you love that, 2/5 times, it's from one of the many developmental tests that we fill out when Olivia has an appointment with the geneticist or the team at UNC. I was trying to catch it on video but I had pushed the wrong button on the camera and ended up taking a still picture instead.
I'm on a mini-mission to capture Olivia on video more often. It's been a frustrating process for both of us as she never wants to perform when I pull out the camera! We have a few videos of her talking. Here's one of her when she's about 18 months old using her sign language to ask for more jello. Makes me smile. I really wish things were still as simple as a mild speech delay!
I love that you are trying to get her on video more. Maybe try setting your camera up on a tripod, and getting a remote for it. Then it will be a more natural enviroment.
In October, 2008 Olivia was disgnosed with MPS III or Sanfilippo Syndrome, type B. MPS stands for: Mucopolysaccharidoses. It is a genetic lysosomal storage disease (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.
1 comment:
I love that you are trying to get her on video more. Maybe try setting your camera up on a tripod, and getting a remote for it. Then it will be a more natural enviroment.
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