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.
