Mat and I have three children, Arlington who is 7, Cainan and Finley both who are 4. When Finley, our youngest by a month, was around one year old, we started to notice that she was falling more than normal when she walked, knocking into corners and tables. But we chalked that up to her being a carefree, careless lanky girl who was a little clumsy. As she got a little older, she started standing very close to the TV, or seeming to always look out of the corner of her eyes to view her picture books.
Soon family members were also noticing that something was a little off about Finley's behaviors. They would comment that she wouldn't look them directly in the eye when she talked to them. They said they noticed how close she needed to get to books when looking at them.
We took her to several doctors, starting with her pediatrician and moving on to optometrists and ophthalmologists. They were all convinced there was nothing to it. We were told that she would probably outgrow this behavior, and not to worry. Maybe in a couple of years she would have to get glasses. But having two other children, we knew that something was just not right. We were not willing to accept the answers that we were being given.
Then in July 2009, we made our first visit to a pediatric ophthalmologist. After taking some pictures of Finley's retinas, he reported seeing black areas. He was not sure what it was, so he sent us to a local retinal specialist for further testing. 2 days later, we were told that Finley could have a multitude of things, but she would most definitely go blind. I was shocked. We went from thinking she needed glasses to learning she would live a life of darkness. This retinal specialist suggested we see a pediatric retinal specialist in nearby Boston. In August, 2009, our fears were confirmed by that retinal specialist. She was 99% sure that Finley had Lebers Congenital Amaurosis, a rare retinal degenerative disease. We had her blood work sent to Carver Lab in Iowa, and in May, 2010 it was confirmed that she had LCA. We even had a name of the gene affected, RDH12, one of the rarest forms of LCA.
This diagnosis was hard to take. Our sweet baby with the beautiful blue eyes may have a life of darkness. It makes me want to run out and get every kid movie ever made so that she can see them all. Or take her on a trip around the world so that she can see everything now before her vision goes for sure. I can't imagine her not being able to see all the wonderful things this world has to offer.
Mat and I did not spend a lot of time wallowing in self pity though, or in pity for Finley. We knew that we had to take action. We wanted to do something that might give Finley a chance for the best life possible despite the LCA diagnosis. This meant investigating and securing all the services available for individuals who are legally blind. She has a teacher for the blind that sees her twice a month, got her involved with an occupational therapist, and we began to learn Braille. But we also wanted to pursue medical options for her as well. Unfortunately there were none. There is no treatment for Finley’s type of LCA, no cure.
In fact, as we looked into it, we found that there is very little known about the mutated gene that is causing Finley's LCA. And without knowledge about what was causing Finley's LCA there could never be a treatment, nor would there be for any other little boy or girl with LCA that comes after Finley. The only way for that to change is for serious, significant research to be devoted to this field. So we talked to other LCA parents, searched the internet, and looked for organizations that supported research for diseases of the retina that we could in turn support. We know that research is the only hope Finley has. By bringing any money that we can provide together with money from other like minded people we ensure it gets into the hands of most competent researchers in quantities sufficient to possibly make a dent in finding a treatment of this disease.
And money is the key. The more that is provided for research, the better our understanding, the better the chances of finding something that can help. We of course would never be able to provide enough money on our own to make a difference. So that means fundraising. That is why we are so encouraged about our new foundation that will support research for Finley and other people who have the RDH12 mutation like she does.
Our team is called Finley's Fighters after our little girl. We have had such a wonderful time being able to do something positive for Finley. We know we have a fight on our hands for a cure. Being able to fundraise and know that money will help fund research to find a cure, was very important to us. We will do anything to cure Finley of LCA.
We maintain a family blog (www.pletcher5journey.blogspot.com) that we started a few years ago. It has provided a great way to communicate with friends and family and just generally spread the word about what is going on with Finley. The blog also serves as my first source to get the information out about our fundraising efforts.
This year, we attended the national LCA conference in Philadelphia. After listening to countless researchers thank different organziations for their monetary support for their research, it was confirmed in our minds, that setting up a foundation for Finley is what we needed to do. We saw these researchers present their results on gene therapy and new drug therapies, how already these efforts are restoring vision to others with LCA, and how the money that is being raised is making a difference. We talked with several other families who feel the same way we do about the importance of research. They are with us in developing a RHD12 foundation for our children. We talked with the researchers who wouldn't have found the cure of one type of LCA if it wasn't for money from foundations and from the families who fundraise for them. This conference and the researchers we met fueled our fire to push forward with fundraising efforts for our daughter.
Our family will never be the same. But Finley's diagnosis has changed us for the better. Would we have wanted this for her? No. But can some good come from it? Of course. The more we spread the word about LCA, and the abilities of research to save someone's sight, the better Finley's chances are of always being a sighted person.
Life is 10% what happens to you, and 90% how you react to it. For us the 10% was the day we received the news that Finley would go blind without a cure. The 90% for our family is everything that has followed that day, and will continue until her LCA is cured. We will never give up. We will always fight for a cure. And with fundraising for our foundation and giving our support to research, we know that a cure will happen in her lifetime.
We are thankful that even thought Finley's LCA is rare, that there is hope because of research. We hope that after hearing our story, you will also feel the drive to make a cure a reality for our little girl and all the people out there who have retinal diseases.