'Finley's Fighters' battle girl's rare genetic disorder
By Kevin Hotary - Staff Writer
Salem - posted Tue., May. 17, 2011
Ever since their daughter Finley began to walk, Matthew and Jennifer Pletcher noticed that something was not quite right. She seemed to bump into objects, and fall down more frequently than would be expected, and a certain way she would scan books or look at the television, all suggesting “that her vision just wasn’t quite right,” said Matthew.
Doctors who examined Finley initially didn’t make much of the problem. “They figured that at the most she was just going to need glasses,” said Matthew. And even though they got this same message time after time, “it still didn’t seem like the right one to us,” he added.
Finally, after a vacation in 2009, in which other family members remarked on how Finley didn’t seem to look directly at them when they spoke to her, the Pletchers were convinced that they needed to consult a specialist.
Noting degenerated areas in Finley’s retina, the specialist was still unsure of the cause, “but he said, no matter what it is, it’s going to cause her to go blind,” said Jennifer.
A pediatric retinal specialist in Boston and later genetic testing confirmed the original prognosis: Finley had only 10 percent usable vision due to Leber’s congenital amaurosis (LCA), a rare genetic disorder that causes the progressive degeneration of retinal cells – the light detecting cells of the eye - typically resulting in complete blindness by the teen years. Approximately 3,000 people in the United States have one of the 16 types of LCA. Of those, only about 3 percent have the specific type that affects Finley, which results from a mutation of the RDH12 gene.
“We never, ever thought that that would be possible,” said Matthew of the prognosis for Finley. As an autosomal recessive disorder, both Jennifer and Matthew must carry the RDH12 mutation, although neither has any symptoms, nor is there any family history of LCA. Finley’s older sister is also unafflicted.
“It’s like the reverse lottery. The odds are stacked against you, but in this case you lose if you win,” said Matthew.
As is typical for many disorders as rare as Finley’s form of LCA, there is no current treatment, and research into the disease is sparse. But while many parents would just accept the fate that seems to await Finley, Jennifer, a nurse, and Matthew, a biomedical researcher, refused to go forward without a fight.
“Our first inclination was to go out and see if there’s anything available, to see what the options are,” said Matthew.
“We read research paper after research paper, just looking for anything,” added Jennifer.
Based on their research, they were able to do some little things. As light may speed the progression of degeneration, Finley wears dark glasses, and her diet is enriched in vitamin E, as there is some suggestion that antioxidants might help.
“But it’s really just complete guesswork on our part,” said Matthew.
That guesswork turned into concrete action last year, after they became involved with the Foundation for Fighting Blindness, an organization that deals with all forms of blindness. After raising $15,000 for the foundation, the Pletchers, together with several other families across the U.S. and a family in Europe, decided to start their own nonprofit organization singly devoted to finding a cure for the RDH12 form of LCA – The RDH12 Fund for Sight (www.rdh12.org).
The original goal of the group was to try to stimulate further research into RDH12-LCA, but the recent success of gene therapy on another form of LCA gave the group a specific path.
“That success really said to us that it’s no longer just about funding research. Here’s a path that could actually be a cure,” said Matthew. And with that, they contacted Dr. Jean Bennett at the University of Pennsylvania, the lead investigator in the successful gene therapy work, and worked out an agreement to fund her research on RDH12, presenting her in March with $70,000 to begin the work.
“The goal is that she will have the gene therapy for RDH12 constructed and tested in a mouse model by the end of this year,” said Matthew. If successful, the group will try to raise an additional $250,000 to test the safety of the therapy, and “that clears the path to start registering for clinical trials,” said Matthew.
“If everything goes as planned, in three to four years we’ll be in the place where she’ll be able to start human trials,” said Jennifer.
And time is the most critical factor when dealing with LCA.
“The earlier you get to it, the more likely that it’s going to really make a difference,” said Matthew. As for Finley, who still has some vision, he added, “with every day that goes by, she loses a few more retinal cells. She loses a little bit more vision, and she loses more of the chance for the therapy to help her.”