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.

7.21.12 Good news

We met with the Pulmonary Clinic this week to check in about Aimee's use of the BiPap machine. The doctor was really pleased with her progress and impressed that we have really worked to make this successful. Using the BiPap machine is a big pain, but even worse was trying to get the mask to fit on Aimee's cute little face without causing skin breakdown and without leaks into her eyes. A few months ago, a mask was finally put on the market that is designed for children. We were really excited to try it, but when we got it home we found that we couldn't get it to stay on Aimee's head. Because Aimee has microcephaly (a really small head), the straps that are meant to secure it to her would just slide up and over causing the mask to cover her mouth or chin. We are very excited to report that about 3 weeks ago we devised a simple trick to get her mask to stay on her face properly through the night.

After we met with the doctor, we saw the BiPap technician. He takes the computer from the BiPap and downloads all the information off of it so that they can track Aimee's progress. The computer records a lot of information, including her respiration rate, leak rate, how many hours the mask is on, the pressure rates, ect. He said that he has been spending quite a bit of time with other kids in the hospital that have microcephaly trying to get these new masks to stay on the kids. They have been using medical tape and all sorts of other tricks. When he saw the little adjustment we had made, he was really excited. He said that he was going to let the nurses know so that they could use it in the hospital too. Fun to be able to share a success with other kids, even if it is a little thing.

One of the concerns I had with using the BiPap recently is whether or not to have it on Aimee when she is sick. On one hand, if she has sinus pressure or congestion in her airway, the added pressure from the machine could make her feel much worse. On the other hand, getting proper oxygen would help her to heal faster. I expressed this concern with the doctor and was relieved to find out that if we are consistently using it when she is well, her body will be in the best shape possible to fight illness, even if we can't use it while she is sick. Such a relief!

In other very GOOD news:
Thanks to several of you wonderful friends and family, we have the exact funds needed to take Aimee to the specialized therapy center in California! WOW! What a blessing and weight off of our shoulders. We are really thankful and so excited to report to you from San Rafael. We will be driving away from Washington on August 4th (2 weeks from today!) and our first therapy sessions will be on Monday, August 6th. We will keep you up to date from there on progress and what the therapy is like for Aimee.

7.7.12 Genius

More than being successful, more than being independent, more than being well educated, physically capable, or adjusted... what I really want for my children is to know that they are loved and free to be the genius they are created to be today.

I have been asked if I am closely monitoring Caleb's development. Really, I am not. One lesson that Aimee has taught me is that development is good, but it is also merely a guide. It should not be allowed to take my focus. It does not determine a future, an ability to love or affect others. Again, I do want to help my children reach their full potential and I pray for them every night that they would have dreams. I do want them to have aspirations and a successful future. I do want Aimee to someday sing and dance. However, we do not get to know how long life will be, so I cannot focus everything on their someday. At times I find myself saying, "When you are older", "When you grow up", "Someday you...". They may always be in training for who they will become (just as we all are), yet, the importance of who they are today should not be ignored.

light box vision therapy
This week I made up a daily schedule of therapy exercises. When the PT came for an appointment on Monday, she gave me two more daily requirements to add to the list. I just needed to see if they could even all fit in a day with allowances for eating and resting. It actually was possible, but it would have to be the focus of every moment and poor Caleb didn't fit in at all.

The reason why I am processing our life focus, is not because I plan to stop working with Aimee daily. It isn't that I will just toss all thought of tomorrow. It is simply that I find so much of my attention captured by the someday, the long term, that I neglect attending to today.

Today Aimee communicates love. She expresses joy. She shares peace in stormy moments. Yes, she is limited by her circumstances. Yes, it seems like she trapped in a cage. Yet, she can communicate with her heart in a way that I cannot. Her brain and her body don't know how to sing and dance, but her heart does better than anyone else I know. I pray that I do not squelch her current exceptional genius by focusing all attention on teaching her to live like the rest of us tomorrow.

Side Note: We were supposed to meet with Genetics, but ended up cancelling the appointment. Apparently they neglected to run a chromosome test for another possible disorder. A bit frustrating since they were supposed to start the process with banked DNA last July. Hoping to go in for the results of that test in a couple months. 

Ps. Check out the great family photos we got taken last weekend with 
Erin Cox Photography at HERE at erincoxphoto.com/blog