What does it mean when 'they' say Prader Willi Syndrome is a complex neurogenetic disorder?
Honestly, I'm not sure what the actual definition is, but my experience tells me what it means for Ayden Jane. The complex part you find out quickly. It stands for effects way too many things that I didn't even know were connected in the body. One tiny little piece of DNA messes with temperature regulation, sleep, metabolism, hunger, endocrinology, muscle tone, motor planning, hunger, growth and development.... Okay, I'll stop there, you get the picture.
As for the neurology piece, in Ayden Jane it shows up in processing speed. Some days she just fires a bit slow. Her response time is slow. She is a step behind. It means that when she was tiny, she needed to be taught how to coordinate crawling, standing, walking, stairs, talking ... pretty much all of it. She came prewired with the ability to do all of these things, but that magic piece that just makes our bodies connected to our brains and the magic of these things just coming was not available to her. It means that she craved motion - swinging, bouncing, upside down, spinning. It means she used to get overwhelmed in new places and just stare. It makes her not always know where her body is in space (not outer space people) so she runs into things, spills things, breaks things... It means she will sometimes overheat and not feel good. It means extra effort to make her body do what she wants to do. It means many things the rest of us likely never even think about because our bodies just do them automatically.
Genetic? Well, that means the root of it all is in her gene's. It was there when she was first formed. It is how she is made. It is tiny non working piece in every cell in her entire body.
So what do we do about it? I mean, that's a tall order to deal with! Basically, we do what we can to just work around the missing genetics. It effects the ability of her brain to use glucose? We don't give her sugars and instead her brain works off ketones. She can't figure out how to make the movements to crawl? We do physical therapy and teach her. She doesn't produce growth hormone to develop lean muscle mass? We give her a nightly shot of it. Her body does not absorb nutrients well? We give her supplements and a ridiculously healthy diet. She struggles to mylienate nerves and make connections, we are sure she gets plenty of good fats and B12 and things to develop what she has. If she had sleep apnea? she would sleep with cpap.
Okay, the list goes on and on and I'm guessing eyes are glazing over but you get the idea. We work each day to make the best use of all the awesomeness that Ayden Jane was created with and just work around that little piece that makes her different.
Honestly, I'm not sure what the actual definition is, but my experience tells me what it means for Ayden Jane. The complex part you find out quickly. It stands for effects way too many things that I didn't even know were connected in the body. One tiny little piece of DNA messes with temperature regulation, sleep, metabolism, hunger, endocrinology, muscle tone, motor planning, hunger, growth and development.... Okay, I'll stop there, you get the picture.
As for the neurology piece, in Ayden Jane it shows up in processing speed. Some days she just fires a bit slow. Her response time is slow. She is a step behind. It means that when she was tiny, she needed to be taught how to coordinate crawling, standing, walking, stairs, talking ... pretty much all of it. She came prewired with the ability to do all of these things, but that magic piece that just makes our bodies connected to our brains and the magic of these things just coming was not available to her. It means that she craved motion - swinging, bouncing, upside down, spinning. It means she used to get overwhelmed in new places and just stare. It makes her not always know where her body is in space (not outer space people) so she runs into things, spills things, breaks things... It means she will sometimes overheat and not feel good. It means extra effort to make her body do what she wants to do. It means many things the rest of us likely never even think about because our bodies just do them automatically.
Genetic? Well, that means the root of it all is in her gene's. It was there when she was first formed. It is how she is made. It is tiny non working piece in every cell in her entire body.
So what do we do about it? I mean, that's a tall order to deal with! Basically, we do what we can to just work around the missing genetics. It effects the ability of her brain to use glucose? We don't give her sugars and instead her brain works off ketones. She can't figure out how to make the movements to crawl? We do physical therapy and teach her. She doesn't produce growth hormone to develop lean muscle mass? We give her a nightly shot of it. Her body does not absorb nutrients well? We give her supplements and a ridiculously healthy diet. She struggles to mylienate nerves and make connections, we are sure she gets plenty of good fats and B12 and things to develop what she has. If she had sleep apnea? she would sleep with cpap.
Okay, the list goes on and on and I'm guessing eyes are glazing over but you get the idea. We work each day to make the best use of all the awesomeness that Ayden Jane was created with and just work around that little piece that makes her different.
This is quite interesting. I knew a bit about Prader-Willi Syndrome but didn't know many of the effects it could have. My idea of a PWS child was a child with developmental delays who is hungry all the time.
ReplyDelete