Disclaimer Ha Ha

Just for anyone who is reading this, this blog is meant to inform the reader about what is going on in our life. AND how it affects me, Sadie, Shelbi, and Daddy....That includes me venting and also sharing good things too. Just wanted to say that! =)
Thanks for your interest in Sadie and life with a disabled child!
Lisa

High 5 for Shelbi

After a long stressful day...I'm thinking back on my last post and would like to give kudos to Shelbi for the sweets words she says...

Of course Mommy and Daddy
Daisy (dog)
TaTa = sister
Joyce (neighbor)
Nanny (grandmother)
Memaw (grandmother)
Jack
GaGa (Meghan)
NeeNee (Nicole)
bus
door
box
diaper
wawa (water)
up
down
on
off
spicy (so cute)
bless you
I love you
more
no
home
duck
mooo (cow)
baba (sheep)
buck buck (duck)
dog
ostrich (so cute)
help
ooooooohhhhh (open)
uh oh
bye bye
ruffffff (barking sound)
doll
damn-it (opps she copied me today)
please
giraffe
sit
juice
baby
ball
cup
booby
ouch
booboo (cut/bug bite)
bug
me
toothpaste
pee peee
poooo (poop)
green (signs it too)
blue
A (points to it too)
B (points to it too)
points to letter C
ABCs (just those 3 letters)

today she copied a bunch of words, but I'm drawing a blank

She also knows a minimum of 150 signs (me too) thanks to watching Signing Time with Alex and Leah.



I love you sweetie!

The Past Month

Ok, so I swore I would be more diligent about posting...and I really don't know what happened to the time.

In the past month, Sadie locked me out of the house. Apparently, occupational therapy is doing a great job...she was able to turn the dead bolt behind me when I walked on our front porch to wave to our neighbor. Lucky for me, my husband was only 5 minutes away and saved the day. Needless to say, we have a spare key now.

About two weeks after that Sadie was also able to lock me IN Shelbi's room. Long story short...Shelbi is in a big girl bed and we put a lock on the outside of her door to keep her inside. Yes, I know most people would say that my child knows to stay in bed until I come to them. Well, Shelbi's been in a queen bed since she was 15 months old due to her ability to climb and also the desire to not be caged in a crib. After a terrifying few minutes my neighbors heard me screaming out the window and came immediately...using the spare key to get me out. I immediately ran to our bathroom and Sadie is standing in our shower with Bill's razor in one hand and his toothbrush in the other...Conclusion...the lock is now higher up out of her reach.

Facts...the developmentally pediatrician continues to track her at 60 to 50% of her chronological age...12month old in language, feeding, mentally, etc. and 20-24 months in play/social skills. We all know she is so happy and social. Genetics pediatrician encourages us to do all we can for her, but understanding we need to have realistic expectations about her development. She says that concerning her curve of development and considering her age...we need to be realistic about how far we stress her/us out by pushing too hard. She encouraged us to find a balance between their appetite stimulant medication and allergy medication. They are both antihistamines. Orthopedic Surgeon believes at this time the tibia torsion surgery is not in her future and that Sadie's toeing-in is because of her very flexible hips. He discourages the "W" sit position. And so do we...."Fix your feet" is the catchy phrase we use to help her realize she's sitting that way as recommended by her private PT, who is awesome!!!

She is currently prescribed Prevacid 2 times a day (morning and bedtime), Claritin once a day at bedtime, and Periactin once a day at lunch to increase her appetite.

My only hope is that people continue to understand Sadie...so much is assumed because she looks so normal. She is a 4 year old with a 1 year old understanding...She is 100% dependent on her care...diapering, changing her clothes, predicting her wants and needs (she is non-verbal), drooling, high calorie food, her safety...she doesn't see danger. She is getting bigger and more things are becoming a danger to her. She can now reach things she never could before, locking doors, climbing. Nothing can be left unattended...she still puts things in her mouth...she is a stuffer. She would unroll the toilet paper...it is stored in the cabinet. She knocks over open drink containers. She sucks on the soles of shoes if they are left out. She doesn't understand hot and cold. She can reach the stove from the other side of the counter. She is now exhibiting stim type behavior...banging her head with her hand...like Dustin Hoffman did in "Rainman." She doesn't always see depth perception and often falls down the step in our house into the playroom. She can't be unattended outside...she puts sticks and wood mulch in her mouth. She literally choked on a piece of mulch last summer and we had to throw her upside down and do back blows. She has almost zero reflex skills for self protection. We start to lose our balance and we can catch ourselves, she will simply fall and hit her head....She doesn't eat well...remember those days when your child is 1 year old and you are encouraging him to eat the peas, but he just doesn't want too. You somehow think if you make that food and airplane that he'll eat it...Sadie is like that everyday every meal. Every meal, I mean every every meal...I pray she will get enough to at very least sustain her weight and hope she might gain a little

This list goes on and on...I don't write to be negative or vent...just to be truthful in the reality of a day with Sadie. Not that its important to me that people understand me or her or our family... I don't want sympathy...but maybe some empathy for life...Some gratitude about how lucky you are and our friends are to have a "normal experience" with their children. In many ways, I've become cynical about other people gossiping about the stupidest things. Or even complaining about the most trivial of life's issues. Or assuming and questioning why I don't go back to work...people let me tell you...I can't go back to work...Sadie is a full time enigma...school, therapy, doctors...scheduling...it goes on and on...I'm just sick of the smart ass comments about how nice it might be to stay home... I'm sick of the comments oh, I'd be so bored if I stayed home, or the smart ass comments "oh that must be nice" I just think that the old rule should apply...if you have nothing nice to say then say nothing at all...or what ever happened to the basic thinking before you speak. I just can't believe how many rude people there are...friends that actually say "oh, I'm so retarded." A friend of mine actually said, you know that's my word. Come on people, you can't be serious...have a heart...Sadie's medical diagnosis is mental retardation...politically correct or not...please get the picture. At anytime, someone could become brain injured...please don't take that for granted and be mean to people who can't help themselves.

Dental, GI, Developmental Pediatrician Appt.

hello all,
I just finished sweeping up coffee grinds off the kitchen floor...a white tile kitchen floor. Sadie pulled the coffee filter out of the trash...standing right next to me. Before I could get to her, she spilled it on the floor!

The week before last, both girls went to the dentist. We have been concerned about Sadie grinding her teeth. She tends to grind at night or when she isn't feeling good. After holding both girls so the dentist could get a good look, he confirmed that her molars are worn down. He mentioned a mouth piece, but I know she isn't ready for that. Shelbi's teeth look great. We finally get to use regular toothpaste!!!

This past week Sadie had 2 appointments with specialists. The first appointment was on Monday with her GI doctor. She has grown 1 inch and now weighs 32.5 pounds. The periactin is working to stimulate her appetite and the prevacid keeps her stomach and reflux calm. He advised us to continue the same medications and we follow up with him in September.

The second appointment this week was on Friday with her Developmental Pediatrician. He tracks her progress and tells us where she is developmentally. He confirmed that she is a dream patient...sweet, calm, easy to work with, and loving...The assistant preformed her evaluation and the doctor examined her. The doctor told us he was surprised to see little language and very little communication. She is developmentally between a 12-24month old. Language, feeding, and other oral motor milestones are 12 months, while play and interaction are 22-24 months. She maintains 50% of her chronological age...Maintaining that 50% since we have been seeing him for the past 2 years. Reality...she will probably continue to maintain that percentage, but on a positive note she will continue to grow mentally.

The doctor feels that she should be able to make choices with pictures, but after speaking to her teacher and also feeling my gut instinct...she truly isn't ready for that yet. Her only interest in pictures is putting them in her mouth. We will keep trying new things. The Assistive Tech devices should be here in a week or two...We ordered the "put 'em arounds." It is a sound device that is about 6inches by 8inches. The top half holds a picture and the bottom half is a button. When the button is pressed it can say a 10 second recording...ie. "I want milk." These devices attach to the wall and can give Sadie a voice and way to communicate. I really hope they work. We ordered them in November and it has taken this long to process all the paper work. Our insurance is covering it...$500 for 10devices...yikes!

She's drooling a lot these past few days...I always feel like she gets a cold or sinus infection when that happens. Both schools also told me she was quite fussy too.

Sadie continues to attend public school special ed preschool 3 times a week and private preschool 2 times a week. I feel like a taxi! I often wonder where do I draw the line...the money...time...energy...traveling all week to get her the best...the goal is to give her the best but at what expense?

Clarifying the reason for Angelman testing

They name the chromosome disorders based on the effected chromosome...ie.
> trisomy 21 (three copies of #21 is called Down Syndrome). We are part
> of several large organizations that compile data for families in our situation.
> Sadie as of right now is the only with her diagnosis. Therefore,
> there isn't a name for one person with one thing. Of the chromosomes
> there are numerous possibilities for error. Like the likely hood of
> the lottery numbers being drawn. Sadie has a diagnosis....del8p23.3
> with extra xp22.2....no one else has that same karotype. It was a
> complete shot in the dark that another chromosome was
> affected...angelman which is the 15th chromosome. She has most of the severe Angelman Syndrome characteristics. The geneticist felt
> like Sadie ought to have more cognitive and language based on the
> minor amount that her chromosome 8 is missing. But now we know that
> she is severely affected by this minor mutation in her chromosome 8.
> At this time she has had the most sophisticated genetics testing and the result is Sadie is Sadie.

Angelman Results

It's been a while since I posted. Honestly, I don't know where the days went?
Life has been busy. Our family, all excluding my husband, had the stomach bug...twice. Yes, the stomach bug can go through your house two times in two weeks. Shelbi and I shared a bucket for a few hours, while daddy took care of Sadie. The first round only lasted 6-8 hours. I do say only because the second round two weeks later lasted three days for Shelbi, 5 days and three stomach medications for Sadie, and one day for me with days of still being nauseous.
Sadie finally went back to school this week.
We skipped school and went to the zoo last Friday. It was 60' out...who would blame me? The girls had a great time. Sadie even mimicked some kids saying "ewhhhhh" when the elephant was pooping.
Although the beginning of the week was excruciatingly cold, today was a sunny 75 and tomorrow is supposed to be the same. We went out and played in the backyard as much as possible. Both girls love to be outside. I'm so glad...I think they got that from me...I love gardening.
Tomorrow we are going to the the Down Syndrome monthly meeting for parents and play group for the kids.
As for therapy, Sadie is having kinesio taping done to help with the external rotation of her legs. Basically, it's stretchy tape that winds around her leg like a candy cane to rotate her leg outward. We are really discouraging the W sit position too. We constantly say, "Fix your feet Sadie!"
Oh and on the medical front, the Angelman UBE3A test came back normal. So the deletion on the 8th chromosome is more profoundly affecting her than we originally thought it would.
Sadie recently showed some interest in sitting on the potty. She's interested in the potty...not telling me she needs to pee. There's a BIG difference. So this week, whenever she is dry for a while, I put her on the potty. Sometimes she goes and sometimes she doesn't. And she still goes even if she's standing without a diaper. We are no where near potty trained, but at least she isn't afraid of the pee coming out anymore.
She is so loving and happy. I only wish she could talk. She will be 4 next month and I can't believe it.

Yawning

So funny. A couple of nights ago, Bill was in the kitchen, tired after taking care of us all. We had the stomach flu. He let out one of those deep yawns. The kind that tells everyone in ear shot that you are exhausted. A few seconds went by and Sadie makes exactly the same yawning sound. I giggled a little and told Bill, I think Sadie just yawned like you. I asked her to yawn again...She did it 3 times. It was the cutest thing.