7.25.12 On and on my friend...

Anyone else watch Lambchop when you were little? Around '92, my BFF and I used to sing the song over and over again, for goodness knows what reason. "This is the song doesn't end. It goes on and on my friend..." It makes you feel a little loopy singing round in circles.

And I feel that same loopiness again. This morning I spoke with the Genetics doctor regarding the disorder CDKL5. This is another possible match with many of Aimee's symptoms. We had submitted a request to test for this disorder, but were denied by our insurance company. Does it really matter? As I read this morning on another mom's blog, "having a diagnosis means practically nothing and practically everything." I found this mom's site through the CDKL5 support site. From this side of the fence, getting a diagnosis seems like being accepted into an exclusive club. All of the sudden, you are in-the-know with a group of other parents. There are colors and hope products and lingo. Just thinking about passing to the "known diagnosis" side makes me feel giddy. I realize it doesn't mean there is a cure, but it does mean resources, knowledge, and maybe even a bit of companionship.

I try not to read up on syndromes, since we have had so many disappointments. Yet, this morning, after hearing that we would not be able to test for it, I wanted to know if CDKL5 matched Aimee at all. Of course, I wish I hadn't now. It probably isn't the answer, but seeing all the information that is out there for the 200 families that know for sure that this is the disorder that their child has... well it makes me realize how much information could be out there for us somewhere. It makes me feel like I'm singing a ridiculous looped song over and over again. Will we ever reach the answer at the end of the song or will the song really go on and on?

Since we can't do this test, our Geneticist is entering Aimee's banked DNA into her own research. She is currently sequencing seizure syndromes and there is a possibility that she could find a match with Aimee. Fingers crossed.

Monday we met with the Opthalmologist. I scheduled the appointment for 3 reasons:
1. Aimee has started to track during vision therapy. A few times now she has even tracked across the midline, which is a HUGE deal, as it means that one side of her brain communicated with the other side. Unfortunately, every time this has happened, one of her eyes wandered.
2. For the past several months, Aimee's eyes have been weepy and seeping constantly.
3. General check up to make sure that functionally her eyes are still in good form.

The first problem of the lazy eye was impossible to deal with in the appointment. Aimee refused to wake up. There was no way for him to determine if we needed to be concerned or not. If her eye does continue to wander, her brain will eventually blind that eye in order to preserve visual clarity. We really want her to keep the limited amount of visual input that she already gets. It is essentially in our court, as the doctor can't say if the problem is concerning at this point. If we feel that it is, then we should patch her good eye for 4 hours a day to teach her brain to use the weaker eye.

Ophthalmologists are not the most gentle of doctors.

For the gooey eyes, we had a dye disappearance test done. They put a drop of dye in each eye and then waited 15 minutes or so to see if the tear ducts would drain it through the nose as they should. Unfortunately, both her tear ducts were completely blocked. The Opthalmologist feels that the reason for the blockage is due to her very small nasal passages and small facial bones. He is concerned that she will have constant infection and skin deterioration around the eyes. In order to attempt to prevent this, she will go under anesthesia in September. They will first probe the duct to clear it and the place a stent in the duct to keep it open.

Aimee can see light and movement.

As far as her eye functionality, it seems that they are continuing to work well. Her visual issues are all caused by neurological dysfunctions. Meaning that her eyes can see, but her brain doesn't process the information. We have discovered, with the help of the vision therapist, that she does have the ability to interpret certain types of visual stimulus in controlled environments though.

Yesterday, Aimee and I (and Caleb) met with the Preschool teacher in preparation for the coming school year. Ed and I need to decide over the coming few weeks how many days per week we would like to have Aimee in school and whether or not to send her via bus (I'm thinking not so much). They are hoping to have her there 4 days from 9:30-12. She will continue to have vision, speech, occupational, and physical therapy during those times and the teachers are all very excited to have her back in class. It was pretty neat to hear the teacher talk about how much they have learned from Aimee over this past year. She is the most "difficult" student they have as far as severity of disability goes, but they are really rising to the challenge of stimulating her in class.