Update on Finley

Thursday Finley had the electroretinogram (ERG) test at Boston Children's Hospital. (Click on the ERG and it will explain the test).

The test wasn't until 1:15pm, but we had to be at the hospital by 11:45am. So we left around 9am and stopped at Target and got her some gatorade to drink and also a few small new toys to entertain her. We weren't sure how long we would REALLY have to wait (you never know if they are going to be behind or not), so we wanted to make sure we could keep her busy. She was only allowed to have clear liquids on Thursday morning until 11:15am, and she did pretty well with that. She drank about 5 glasses of juice, so she was in a good mood when we got there.

She behaved very well. I accidentally forgot to take the camera in the hospital, but she looked very cute in her hospital outfit. We didn't have to wait long - they were on time. We were kept busy with visits from nurses and doctors and anesthesia, etc. Finley was very cooperative with everything they had to do (which wasn't much before she went in).

At 1pm, they called us into the operating room. I got to go with her and stay with her until she fell asleep. They used a mask to put her to sleep and she didn't fight it at all. She was out in about 30 seconds. While we were waiting for the procedure to be done, Mat and I had lunch and I did grab the camera. :)

The procedure lasted just under 1 hour. We got to be with her in recovery right from the start. She was still asleep when we went in, but doing well. We met with Dr. Fulton at this time and she talked about the priliminary findings. We will get the full report in about 3 weeks time that will outline all the details from the test.

But, from what Dr. Fulton could tell, it looks like Finley's retina is functioning at about 10%. 0%, obviously would be totally blind. So she doesn't have much function at all. Dr. Fulton was not surprised by the findings. What she continues to be surprised about is that Finley's vision is 20/70, which is just about normal for a child who is 3 years old.

Anyway, the results basically confirmed what we already knew at this point. She will never read small print, she will never drive, she will have trouble seeing in the dark. Also, her peripheral vision will be very bad. Which is why she seems to "search" when looking at faces, or writing her name, or looking at anything. We have also noticed lately that she is squinting more. Or she will furrow her brow, then open her eyes wide, and then furrow again - like she is trying to "clear" what she is seeing.

Anyway, Dr. Fulton said this is the first step in a long line of steps. She wanted to make sure we were in contact with BESB (Connecticuts Board of Education for the blind/vision impaired), and we have been. She wanted to see if we wanted to see a genetic counselor, but honestly- we aren't having any more children, so we probably don't need that. We have scheduled her night vision test. Monday I will hopefully be able to schedule her vision field test. We are getting priliminary genetic test results back, and will get the blood genetic test back sometime in the spring.

Dr. Fulton is still thinking that this is Lebers Congential Amaurosis (LCA). Click on the word, and it will tell you more about it. (This website will also lead you to other websites about LCA that are really interesting to read about). The Carver Lab is where we sent her blood genetic test. What we have learned lately that LCA is rare. There are only about 3000 people in the United States that have LCA- men, women, children combined. The Carver Lab is trying to genetically test all 3000 of those people so that we can start to find a cure. There are 11 different types of LCA. Right now, gene replacement therapy is going on for 1. 1!!! So a lot more research is needed. We won't know what type of LCA Finley has until the blood test comes back next spring. And even then - we may STILL not know.

So, it is all very frustrating, but manageable. A low vision teacher will begin working with her in the very near future. Mat and I are going to start to learn braille, so that we can learn right along with Finley. She will continue to be the cutest, most fun loving 3 year old on the planet. You can't look at her, and not smile. I can already tell that her vision problems are not going to slow her down.

So, are we sad? Sure. We are sad that it isn't the path we thought she would take. But mostly we are becoming comfortable with our "new normal" with her, and will take each day as it comes. We are in full mode of finding out all we can about LCA, meeting other families who have children with this disease, and promoting research to find a cure. And we encourage all of our readers to do the same! Help us find a cure for LCA. Promote research. Promote gene therapy. Put yourselves in our shoes. We believe that Finley can live a full life sighted or blind. But given a choice - we would want her to live a life with sight.

We will keep everyone posted. We had a really fun day today at an apple orchard/pumpkin patch, so I will have a lot of pictures for Tuesday!

Enjoy your weekend everyone!