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.

Life

School is going great and everyone is impressed with Sadie's ability to sit for longer periods of time. She has gone back to her old eating habits...barely eating. We took her off the periactin for a short break because of the sleepy/grumpy side effects. Sadie's geneticist said that was fine. Usually people are on it for 2-3 weeks and then off again for a week or two. I feel my stress level going up again though worrying about her weight. She gained about 1 1/2 pounds during the 3 weeks that she was on the medication. But being back in school has brought the stomach bug to our house. Shelbi and I caught it a few days later. Sadie and Shelbi's stomach bug wasn't as bad as mine, they are both on children's probiotics, so I think that helped them. Sadly, I'm pretty sure Sadie lost most of what she gained. She will start the periactin again this week.
Other than the stomach bug, everything is the same around here. Chasing Sadie around the house to keep her out of trouble and Shelbi is following suit and helping me. Taking and picking Sadie up from school hasn't been that challenging. Maybe I'm just getting used to it?! Daddy's been helping take on Tuesday and Thursday. Thanks Daddy!

Another morning at the hospital

This morning we took Sadie to have her blood drawn for the Angelman Syndrome UBE3A test, AGAIN! They screwed up the paperwork for the 1st test and therefore it had to be drawn again.


As expected, the lab tech blew the first vein and was unable to get enough blood out of her other arm. They had to call in the "Vat" team (i think i spelled that wrong, and i don't know what it stands for except they are supposed to be able to draw blood when the "regular tech" can't do it). Finally, after the 3rd attempt and endless poking with the needle, they were able to get 2 1/2 tubes.


Now for the 3-4 week wait AGAIN.

The UBE3A test is sequencing the genes on the 15th chromosome. It would be like getting number cards 1 to 1000 and you have to make sure each is in the proper numeric sequence. If 53 and 58 are switched that means they are out of sequence. If her genes are not sequenced correctly, she will have 2 documentable diagnosis. The gene sequence test will indicate if she has Angelman Syndrome.

25 Facts of Life

25 things I would like for people to know about me…

This is the recent topic on Facebook. People are writing poignant comments, thoughts, and feelings about their life that people might not know or they want them to know. I’ve read them from 3 people this week and have had it in the back of my mind to write one, but didn’t want to overwhelm my “friends” with complaints…or as I know them the “facts of life.” So here are my 25 facts of life…as I know it.

1. I change my 32 pound, nearly 4 years old daughter’s poopy diaper 2-3 times a day. In addition to the other wet diapers too.
2. I mentally tally Sadie’s calorie intake everyday.
3. I cry when I watch Signing Time, EVERY time…I wish Sadie would sign or talk.
4. I sold my SUV to buy a minivan so the doors open at the push of a button to make life easier. Sadie has to be carried most of the time to the car or she will take off.
5. Sadie has had 2 feet surgeries, 1 eye surgery, 5 gastro procedures/tests, 1 24 hour pH probe, 2 EEGs, a ton of EKGs/Ultrasounds on her heart, casts on both legs for 5 months of her life, 1 MRI, 1 CT scan, 1 Audiotory Brainstem Response (ABR) with Sedation, forcibly given blood for Genetics testing 3 times...4th time will be on Monday b/c someone at the hospital screwed up her test on the 3rd time...hmmm am I missing anything?
6. I have a handicap decal for Sadie.
7. I’m thankful for Meghan each day…I admit I can’t take care of Sadie alone.
8. I cry that Shelbi seems to understand her sister and I’m thankful for her.
9. Sometimes I go 2 days without showering and a week without shaving my legs.
10. I question everyday why GOD would do this to a child.
11. I never wonder “Why Me?”…”Why Sadie?” simply…"why?”
12. I hate it when people say, “God never gives you more than you can handle!”…have those people ever dealt with a tragedy in their life.
13. I hate it when people use the word “retard” in a derogatory way…my daughter is intellectually disabled or formerly known as mentally retarded.
14. I have used the word “retard.” I was ignorant.
15. I’m obsessed about reading other peoples stories. I will even contact strangers and they welcome the kinship we share.
16. I invent new ways to keep Sadie in her clothes…cutting the onsies up and sewing it on her pajamas.
17. My 46 month old loves to strip in her crib and eat her diaper.
18. Shelbi is potty trained at 17 months, sleeping in a queen size bed, saying words.
19. Sadie is nonverbal…that means she does not talk. Even if you hold her arm and say your name 12 times...she will not repeat it back.
20. I hate to attend birthday parties…it reminds me how delayed Sadie is and it makes me overwhelmingly sad.
21. I hate it when people are positive…I’m realistic…please don’t be offended…I’m the one who lives this life…you come in sporadically and I appreciate your positivity…but it saddens me to know you don’t understand.
22. Sadie has 9 doctor’s who see her at least 2 times a year.
23. Sadie is on the Mental Retardation Waiver wait list.
24. Sadie is on medication for anorexics…which is working…she gained over a pound this month.
25. It is a huge undertaking to dress Sadie…she goes through about 3-5 outfits a day. I am always doing laundry…and I hate it, but I love the smell.

26. I love her with all my heart and will do whatever I have to do, even if i secretly complain about it to myself.