Neurofibromatosis

so it's been a busy week for us.

my nephew was born on Feb 2. Braden Robert Slocum. Sweet little boy. and i got to keep my niece Lydia (Braden's big sister) from Monday to Wednesday. It was interesting. Overall, i think i did better with 2 toddlers than 1! i got Lydia to listen to me and Kathryn followed anything Lydia did...and vice versa. so it wasn't too bad. of course some chores were ignored...like laundry. oh well. i would have kept her longer, but she was dying to see Mommy, Daddy and Baby Braden.

On Tuesday of this week Kathryn went for another audiology appointment to test her hearing (last time she went she had a cold it she got bad results, so she needed to come back when she wasn't sick to compare) she passed the tests with flying colors. she might not be able to see real well w/o her glasses, but hear she can. do that was good news. However, the audiologist gave me her opinion about kathryn's delayed speech development, saying that if kathryn really is chronically sick during winter, that could be part of the problem. she explained that when we are sick fluid has a tendency to drain into our ear canals in our inner ears...and it makes the sound waves muffled when they try to travel through the fluid, which could be equated to having cotton in your ears...everything sounds blurry or slurred to the brain. hmmm. good to know.

kathryn has been getting much better with the speech issue, but she has an evaluation with a speech therapist in march to start speech therapy. yay!

i also got the "Your Baby Can Read" program in on Monday for my 30 day trial, and i have high hopes, although i haven't been able to get Daniel to watch it all the way through yet. On the other hand, Kathryn LOVES it! 

So Thursday we went to the doctor for a well check for both Kathryn and Daniel. Kathryn is 32 lbs, 37.5 in tall. she had one shot and took it well. Daniel being 9 mon. got 3 shots, and he's a breath holder...poor thing. he is 18 lbs 4 oz and 27.75 in long. both seem fine. 

But when the doctor was examining Kathryn, she noticed quite a few "cafe au lait" spots on her, and i mentioned how i've been noticing that she's getting more of them...just thought they were birth marks or something...well apparently if you have more than 6 pea-sized or bigger, it raises a concern. well, when i looked over kathryn yesterday i found at least 11, so hmmmm. she said she wanted me to take her to see a geneticist though after noticing freckles in her arm pits. once again...didn't know that was a big deal. but after i thought about it...freckles are supposed to be from sun exposure...how often do your armpits get sun exposure...so ok, that makes sense. anyway. she thinks kathryn might have Neurofibromatosis which is a genetic disorder, but that's for the geneticist to decide she says. i thought...wow that's a mouth full...what does it mean?

well, it is basically a mutation in a specific chromosome and the mal-production of a protein that stops tumors from forming...so basically tumors could start to form on the nerves anywhere in her body, but eyesight and skeletal structure were the main things affected by the type of NF kathryn may have...well, her eyesight already sucks, but that's been fixed with glasses. but the bone problems...that wouldn't be cool. anyhow, it relates to slowed speech development in kids and so it seems like this fits...but i dunno. bad thing is, there isn't anything you can do about the disorder other than treat the symptoms. treatment may include removing painful tumors, stopping radical bone growth, and she could get scoliosis. she may also develop freckles in her irises... well, all of this is if she has this...so i guess we'll have to see. things you never think to notice. good thing there are smart doctors who study this.