Saturday, March 28, 2009

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?

Sunday, March 8, 2009

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.

Friday, March 6, 2009

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.