Finley

Okay - so don't be mad. I don't have any pictures. And I forgot to post on Sunday and Monday. I have a horrible memory and too many things going on. But meals from last week - good! We found we are not big fans of Halibut. But if you are- that was an easy recipe. And I am not making anything new this week. My mom and I cleaned and freezer and I found a few gems in there I need to cook before buying more food.

Anyway......

I wanted to update everyone on Finley. Monday we received the long anticipated blood results from Carver Lab. For those of you who have long forgotten- in August (yes almost 9 months ago) we had to send Finley's blood work off to find out what type of Lebers Congenital Amaurosis (LCA) she has. Or really, to find out if that is what she has at all. Our doctor was 99% sure this is what it was, but without a "for sure" the blood work was sent off. Plus, there are 14 different known types of LCA. 14 different genes that can cause problems with vision like Finley's. And it was anyone's guess which of the 14 she had. (it gets a little complicated, so I will skip that part).

So, blood work went off. And for the last 9 months, we have waited. And wondered. And waited some more. Monday, the results were in. Finley definitely has LCA. She has the gene labeled RDH12. This does not mean much - this number/letter combo - I know. But it is definitely an answer. LCA affect 3000 people in the United States. It is very, very rare. Out of those 3000 people, around 120 of those people have the RDH12 gene affected. So Finley has about the rarest of the rare.

Of course she does.

LCA and RDH12 is autosomal recessive. What that means is that both Mat and I have to have the "problem" (a gene that is affected) in order to pass this on. Finley had a 25% chance of getting LCA because Mat and I both have a defect on the RDH12 gene. This is like a 1 in a billion chance of happening.

And it did happen. Mat and I both have the defect - and we passed it to Finley, and that is why she has LCA RDH12. That is as simple as I can make it.

We have not found much information on RDH12 because it is so rare. There are not many people out there researching this particular gene. But what we have found is this: 1) it is progressive. How fast it will progress to total blindness is not clear. It could take a year, or 20. A few studies said that most people with RDH12 LCA are completely blind by 18-25 years of age. If we have that long, I would consider ourselves lucky. I am hoping research catches up by then.

2) The sunlight can make it worse. From what we can tell, it seems like sun rays might be damaging her retina further with this particular LCA. So - we have a lot of sunglasses now for her. She has to wear them all the time while she is outside. She doesn't seem to be ligh sensitive inside, but that may come with time.

3) Vitamin A is not processed properly in the eye. This one - I really don't have a lot to say about. We are not sure if an increase in Vitamin A would make a difference or slow things down. That is going to take more time to research.

That is all we know. There is very little else known. It is highly variable, and from what we can tell, Finley seems to be on the better end of the deal. She has pretty good sight right now (for a kid with LCA) and we are hopeful that means she may be in her teens before she goes completely blind.

We have an answer. I actually feel some relief. I have been waiting for so long just for something to work FOR - to know exactly what we are dealing with, that I have forgotten to just breathe. It is now a chapter closed. The waiting for the answer is over. Now we know. And now we can move forward.

Today we had a chance to meet a first grader who has LCA. We were able to meet her braille teacher, her vision teacher, and see her classroom/workroom. She has her own room with a lot of equipment where she learns braille. And then her vision teacher spends the day with her - translating all of her work into braille, and visa versa.

At first - I was overwhelmed. I looked at her, and watched her type away in braille and felt a complete sadness. I saw Finley sitting there. But then- the little girl took the braille paper out of he Brailler, and started to read what she wrote. She read a whole story. I was then AMAZED. A 7 year old - who still has some vision like Finley - who just started braille in Kindergarten, was READING braille. Fluently and with her fingers. I was blown away.

My sadness quickly turned to joy as I watched this little girl in her class. She was energetic, and engaging. She had her desk among other children and her brailer at a desk right next to her. Her vision teacher was off to the side - doing her own thing. She was not "helicoptering" her at all. The little girl was responsible for getting her work done, and the vision teacher was just there to translate her worksheets into braille and then when the little one was done with her work, the vision teacher would translate back into print for the main teacher to read.

I saw a glimpse into our future. And it was okay. Finley is going to still be independent. She will not be hand held. She is going to know how to read Braille by first grade. She is going to have friends, and classmates, and fun. I left there feeling uplifted with a feeling "okay. We can do this. SHE can do this."

Is this what we wanted for her? Of course not. Do we feel guilty that we passed this to her? Of course we do.

But it is what it is (sorry Carrie - I know you hate that saying). And Finley is Finley. Stubborn little firecracker.

We will continue to update you as we find out more. But for now - we have ended one road, and begun another. And we are going to fight! We are going to fight for research. Fight for a cure! But we need your help. We cannot do it alone. We need all of your to help us find a cure for LCA and, of course, LCA RDH12. WE know they are close.

If you want to join us and walk on Finley's behalf, go to the Finley's Fighters Visionwalk page. (go to the top of the blog and click on Finley's Fighters in WHITE and it will take you there). Donate to a wonderful organization that will be responsible for funding the cure that we know is in Finley's future. Your help means everything to our family.

Alone we can do so little; together we can do so much. - Helen Keller.