New picture

Gotcha day for Amanda June 23.
You can see how much her hair has grown, and it has been trimmed once too.

I finally got to take some pictures today, I loved this one of Amanda. :o)

Replies to comments

Thank you to everyone who answered my questions here and via email, it helps to get different perspectives.

our daughter still occasionally rocks after 1.5 years home, we gently stop her, it is a coping mechanism that they must be weaned off of when tired or frustrated.

She looks EXHAUSTED in this video and appears to fall asleep during it or have a mild seizure? She about falls over and closes her eyes for long periods of time. Could she have a sleep disorder that is causing such exhaustion she appears autistic and touchy during the day?

hi Amy,

She is sick, she has a cold, so she really is tired, but she just woke up from a nap there, so that may also explain how she looks too.

Amanda drops her head all the time, she is not sleeping, she hangs her head to breath deeply and grind her teeth, it part of her self-stim pattern. I was sitting right in front of her, so I know this for certain. Though seizures are definitely not out of the question for her. She will see a neurologist for her plagiocephaly and aniridia, he can do as many exams as are required to diagnose her.

watch video-11 seconds through 17 seconds in-eyes closed falling asleep!!24 seconds-head falls over, she trembles and then pops back out of it. Please check for a sleep disorder or seizure disorder. Show your doctor this video.Amy

I can send him to the website to watch her, I actually did this video for a friend who is having a doctor look at it for me. (thanks Dede)

Video and baby picture

This is for Dede, you had asked if I had images showing Amanda's Aniridia, this shows it very well. (Isn't she darling, my sweet Amanda, I have no idea how old she was here, isn't that sad?) The ophthalmologist said she has a partial expression of Aniridia. You can click to enlarge this picture. Her left eye (right in the picture)shows the irregular edges of the pupil.

In her video if you turn up your sound, this is a quiet form of her "singing", you can also hear her grinding her teeth, it is a terrible sound. You can also see Kara's Buddha Belly, and her huge belly button, it is apparent that she had a hernia when she was a baby. Also thought to mention, my husband and I are talking about filming Amanda sideways, we can't find a program that rotates it, so I filmed her again with the camera upright,we are talking about the camera, not Amanda.

Gosh, this is frustrating-please help

I called the geneticist today, no openings until May. We only have one Geneticist in Tucson, ONE! I made the appointment, but I will look into getting an appointment in Phoenix for her, meanwhile, I am still waiting to hear from the Pediatricians office about the ultrasound.

Amanda did not sleep well last night, vocalizing from 2 AM on. She and Kara finally went down for a nap, Meghan and I sat down to do her HS'ing, and she is taking a little break. So I am updating Amanda's blog.

I am asking everyone who adopted from Europe for advice about Amanda's vocalizations, it is so loud and upsets Kara and Meghan; frankly it is wearing thin for all of us. She is held, cuddled, fed, and dry, there is no reason why she should be agitated at all. As soon as she climbs down from our laps, she begins the vocalizing while rocking. I have been picking her up to see if she wants to be held, she will scratch or pinch, and push away, so I know it is not what she wants.

I need suggestions about what to do about it, how did all of you, those who adopted from Europe, help quell this behavior? HELP? Check out Kara's blog for another question on behaviors.

6th Picture folder

Meghan in 2005

There were other pictures in this folder, all of our garden when it actually was blooming... this is the first picture of a person in that folder, my Meghan!

She is decked out head to toe in Gymboree, what a surprise! LOL

Sweet Amanda has been home 3 months

I finally got a call back from the pediatrician about the peds geneticist, I have the number and will call Monday. Not really focusing too much on the Aniridia, we are trying to get her through her first cold. Other than a nose which will not stop running and a low grade fever, she seems fine. I just get concerned when my little ones fall ill.

Sadly we had an issue with her insurance and spent the last week fixing that, I also have to call Monday to make sure she has the same primary care doctor listed on her files as Meghan and Kara, for some unknown reason, they switched her to a new one.

She seems to need a lot of cuddling with her cold, she stands up and asks to be held a lot, and I am not complaining a bit. It is good to see her coming to me and Daddy for comfort, I think prayers are being answered here.

We canceled her appointment with the Neuropsychologist because she was sick and we need to get the Aniridia tests out of the way first. Gillespie Syndrome does list autism as one of the issues folks with it have, so we need to see what we are facing here.

Doesn't change how much we adore her, how sweet yet feisty she is, and how well she seems to be doing.

Her favorite thing is to go out and sit in the sun, she adores the sun, the warmth of it. She is always so cold to the touch, no body fat to keep her warm either.

She has some fat on her thighs and belly now, it is good to see, and her pulling to a stand all the time is helping her quads, hamstrings and calves develop.

She is very strong, a wiry strength with a killer grip. I always think about Andrea saying watch those earrings, which I do, I stopped wearing them. The other day Amanda ripped the collar off my tee, it is ruined, but who cares, it is only clothes. She has a habit of grabbing your clothing when you are lying her down, I think it scares her to be lowered after we hold her.

Her brothers all agree she acts less scared and more outgoing, today Julia said "Mom, she is acting more like Kara now" and she is right, it happens so slowly, you do not notice until all at once.

No pictures, I am sorry, Julia has her camera with her most days, and mine is broken, and only 2 years old too, how depressing. I dropped it in Estonia, probably broke a connection somewhere. Looks like we need a new digital camera, maybe for my birthday? (hint to DH here LOL)

Pin pillow contest

Thanks to an anonymous donater, Stitch Pink was offered this adorable pin pillow.

The little ballerina was stitched, and made into a pin pillow.
Included also, is the heart pins shown in the picture.

If you would like to win this cute pin pillow -What you need to do is leave a comment to this post (anyone can leave a comment), and on Oct 17th, a winner will be selected! NonBlogger entrants must have an email to be entered.

Please if you could, advertise on your blog for this contest, it would be much appreciated. Enter the contest here

Answering comment day

Jennifer said:
I hope you get some answers soon. Remember, this won't change the Amanda you love!!

Jennifer, absolutely, she is still our same special girl, but we will be better equipped to help her with all her needs, and know how to protect her as well.

traceylynndel said...
You are right to find out all you can. Better to know too much about something you don't need than find out you don't know enough. It also enables you to ask the doctor intelligent questions once you do find exactly what she has. I'll continue praying for sweet Amanda and her family too.

I know that forewarned is forearmed. Thank you for your prayers, we have not heard about her referral yet, it is time to call the doctors office.

carol said...
Kris, I am so glad that you have the access to the internet so you can search. Amanda is very lucky to have a mom that is such a good medical detective. I hope you find all of the information you need. Good luck Kris. I wish there were more people like you out there that take the time to find answers to their problems. We cant always leave it up to our Drs. as the dont always have the time or energy it takes in finding all of the information needed.GOOD LUCK

Carol, thank you for always supporting me and my family

Christina said...
Kris,I can relate to the frustration you are going through. It reminds me of our experiences with our son. It seemed like every time we saw another specialist, they found something else wrong! I started to feel like there was some form they were trying to "check" every box on! It never fails, whenever I hear the words "odd are your son does not have this/that", from a physician, I know to get ready, prepare, and reasearch because "odd are" he WILL end up with it. I know it can be frustrating, but you are being a great mommy to Amanda, and doing the right thing to reasearch and be prepared. I will be praying for you and your sweet baby girl!
S.P.S. I love the pic of Amanda at the top of your blog -- is that a new one?

Christina, exactly, I feel the same way about sweet Amanda, the dentist, the heart doctor, the eye doctor, at least her hearing was normal. I am almost afraid to take her to another specialist, what will they tell me about her?

The picture of her is new, yes, I love it too!

WheresMyAngels said...
Never heard of this. Also has she been tested for celiac's, that could cause weight issues. Mercede was always a very thin child. Her heart was part of the problem but she also has a very high metabolism because she eats more than all my kids.Prayers that you get some answers.

She has not seen the GI doc yet and I know they did not test her blood for Celiac, she does not eat any wheat products, so the test would not be accurate anyway. I guess after she can chew and eat breads, we can test her for Celiac.

deanie said...
Kris, your family is always in our prayers. Amanda is such a precious Angel and has so much to teach the world. We are praying that her problems are not life-threatening and that God cradles you all as Amanda goes through these tough times.

Thank you Deanie, she truly is a very special little light in this world. She is beginning to giggle and interact more and come out of her funk (depression from being in a new home is likely) She does continue to exhibit autistic behaviors, but at least she is coming to us for love and attention. As long as she will be OK despite all her special health issues, then I am OK too, the main thing I am concerned about is the Wilm's tumor, if she has it, or is she susceptible to it.

GoldenAngelsWorks said...
Prayers for our dear Amanda... Poor little thing just keeps having more added to her....I pray for the best outcome on this... I pray also for your family to receive comfort and peace that God is in control and knows what is going on.

Thank you Dawn, I know with prayer she can be OK.

Randy and Sheila said...
I don't have this condition but the eye dr is always saying that my pupils react too slow...I got to wear sunglasses at school and thought I was the coolest! I hope it turns out to be just an inconvenience for her too.

I hope so too Sheila, that would be the best case scenario for her.

Pediatrician visit

Amanda saw her primary care doctor today, he looked at her eyes and we talked about the findings of her eye doctor. He will be ordering her referral to see the geneticist and will order the ultrasound to check her abdomen.

She was laying there quietly contemplating the doctor as he talked to me. Very strange behavior for her, she seemed calm, she was not gnashing her teeth or breathing hard. Seems she trusted him, we do too, or he would not be her doctor.

She and Kara are napping, Meghan and I need to homeschool. Will update her blog when we know more.

Gillespie syndrome?

Yesterday I posted to groups I am on about the newest scare we have with Amanda, my heartfelt thanks to those who responded.

I have to tell you I am scared for Amanda, I am trying not to borrow trouble, but Aniridia can be life threatening for her. Since she is so thin and fights to gain weight, the possibility that there is something wrong is high. Cancer takes life-giving nutrients and takes it in, but does not allow them to keep the "host" body strong. Amanda eats a lot; she eats as much as Kara, who is getting overweight. Her thyroid is within normal limits, so it is not that.

We have many doctors to see still, GI, ENT, a nephrologist, and a geneticist. Every medical professional who has seen Amanda has asked if there was something else going on with her other than Down syndrome, and of course we won't know until she sees every doctor she needs to see.

I have been reading about Aniridia, and it is possible that Amanda could have Gillespie Syndrome, which is quite rare, but she does not have complete Aniridia, but partial.
http://www.socialstyrelsen.se/en/rarediseases/Gillespie+syndrome.htm This of course would be a better case scenario for her. Her risk of renal cancer would be no higher than any other child's.

Since most cases are in Sweden, and since Amanda is from Estonia, not that far away, the possibility is there. I wrote an organization in Sweden for more information, yes, I know, perhaps jumping the gun? I am relentless when it comes to finding answers, I think I should have been a detective.... Yes, Amanda having Gillespie Symdrome is all supposition, but when either I am facing a health issue, personally or in someone that I love; my first response is to learn about it, and that is what I am doing now.