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Friday, July 3, 2009

A is for Autism and for Amanda...

The pictures I don't post, the head dropping down, her averting her eyes because maintaining eye-contact causes her stress. So many of the same pictures over and over and over, hundreds of them; why show them? They actually make me quite sad because when the camera is not out we see an animated Amanda, and then when she sees it she retreats, hiding her face, avoiding me. She also does the same thing with new people, she will relax after a bit, scoot over to them and sit in their laps, and then try to scratch them with a grimace on her face, strange behavior, wish we knew why she has that urge?

We knew Amanda had some issues that were characteristic of autism, but like everyone; friends here, family, on-line friends, we had hoped and prayed it was institutional. Something that could resolve over time, and maybe some things still can and will, but we waited the year we were asked to wait, all the time seeing so many positive changes, but knowing, some things that should be better, weren't.

"Your daughter has all the makers to indicate she has autism". That is what Dr T, the developmental pediatrician we saw yesterday, said to me. She also asked me, "But now what? Do you want me to write this down, that your daughter may have a triple diagnosis? Aniridia, Down syndrome, Autism? Your daughter is a complex little girl Mrs L., but you knew that, didn't you?" and "What will it change for her, will it provide her better care than she receives? Additional therapies? With our state budget in the toilet, can you get the therapy?" So many questions, she was very kind and compassionate, I had tears in my eyes while we both looked at Amanda, both of us wishing Amanda would get a break.

We talked about Amanda's other diagnosis, Aniridia. We got the notice from the insurance, they agreed to pay for the PAX6 F.I.S.H. test. The most important issue surrounding an Aniridia diagnosis and whether or not she will need renal screening for life, the mutation of the PAX6 gene predisposes those people to renal cancer. We have not called to schedule the blood work yet, preferring to do all three girls at once, and Amanda's one year physical is coming up in a couple of weeks. If the test is negative, then her increased chance of renal cancer is gone. That would mean that our Amanda would more likely have Gillespie Syndrome. Even more rare than Aniridia. One fact remains, Amanda's pupils are huge, they are corrugated and bleed into the iris, she has poor vision, though not dysfunctional. And we have witnessed episodes of nystagmus. Something is going on there, but if it does not threaten her life, I am not going to stress about it.

Because of the nystamus and what seem to be momentary lapses in consciousness, she will also get an EEG to rule out epilepsy. Dr T does not seem to think this is Amanda's issue, but her therapists are concerned, so we will rule this out.

I hold her, love her, feed her, bathe her, she is my daughter, and yet knowing that even the professionals agree with the autism diagnosis makes me incredibly sad. I remember almost two years ago seeing her face for the first time and asking A if she had autism. I looked at her and I KNEW something was missing from her gaze, it was not engaging, it did not connect to the camera, does that make sense? So even two years ago I was concerned about Amanda having autism, but more than anything I wanted to be WRONG about that.

On to the next chapter of her life, she is making progress, and that is what really matters. She is up another pound and is nearly 3 ft tall, she IS GROWING.

11 comments:

GoldenAngelsWorks said...

Such a beautiful little girl with so much going on.

My mom used to say to me when I would say about things hurting....
So young and already falling apart! LOL

Cammie Heflin said...

Amanda is a wonderful, beautiful child that is going to be loved and accepted no matter what. She is going to grow and learn and love her life now that she is with you. I can't imagine what she would be like if she was still in Estonia, what a blessing that God placed her with you.

carol said...

Kris,
I am glad that you finally got that appointment over with. I know no matter what you will love Amanda. She is so lucky to have you as her Mama. Good luck with the rest of the testing and let us know the results. Know I am praying for you and Amanda, Kara and Meghan. What lucky girls to have such a loving and caring Mama.
Carol

datri said...

My daughter Kayla is 5 and has Down syndrome and autism. She was diagnosed with autism at age 3. She's just SO different from other kids who have just Down syndrome. But she's doing wonderfully! Sure, developmentally she'd be considered "low functioning" but she's happy and that's all I really care about.

soontobemomof9 said...

Bless this special little soul, who faces so many challenges and yet continues fighting! She is a beautiful girl, and her mother loves her dearly! I would say she is greatly blessed!

Shea said...

My 2nd daughter had sensory issues, thought I didn't know it way back then. Any pictures of the first few years with a smile are with her having red yes. Every photo session started and ended with a total meltdown. One photographer even suggested taking the picture with her screaming and her sister putting her fingers to her lips like she was shushing her. I said no thanks, I'll remember this in my mind forever, no need to capture on film and pay for it. ~Hugs~ She really is a lovely little girl.

Alice said...

I can't believe Amanda has been home 1 year!! I remember checking your blog about 100x/day for the next update. She is so blessed to be in your family. It is wonderful to see a happy, healthy little girl in the pictures. Whatever her issues, she is loved, and encouraged to grow and develop. She is really living now, not just existing. Thank you for your faithfulness.

Anonymous said...

ah, I thought so, sweet child. But the diagnosis doesnt change the child- it just helps to explain how she ticks. So what does the state- or ed system offer for kids with autism? In our state we are so lucky- children with autism get intensive home based treatment. And sometimes school districts can be "persuaded" to provide specialized treatment for autism too.

Charlotte said...

Kris,

I remember drooling over your blog a year ago, watching you in Estonia, loving Amanda, knowing she was such a special girl with such a special family. I know what ever it is she needs, you will always get it for her !

God bless !

Charlotte, waiting for court date soon for Evelina, age 13 !

Mandy said...

Kris - Life just sucks at times! Ugh, if only us moms could take the blows for our children. You just got to keep believing with your heart that there is always a reason - Miss Amanda is here to teach and you are the first of her many students.
She is just beautiful :)
Praying for strength and patience...love ya girl :)

Christine said...

Amanda is just precious and so beautiful! She is one of a kind!

My three little girls

My three little girls
Finally got all three to smile at once

Manda moos music, click pause to turn this off.


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