Friday, March 25, 2011

Finley's Article

Fighting for Finley
By Elizabeth C. Regan
Finley Pletcher is four years old. She has wispy blond curls that cap a tall, thin frame. She explores her world from different levels and different angles, sometimes running at full height, sometimes dropping to hands and knees to sneak around a corner and peer up at what’s going on in another room. Her glasses—dark blue frames with tinted lens­es—are a defining feature against her pale complexion. But the glasses are not corrective. They are meant to pro­tect her eyes from light, not to improve her vision. There is currently no treatment to halt or reverse the retinal degeneration that has already stolen 90% of her sight. Finley is going blind.

Finley was diagnosed with Leber's congenital amaurosis (LCA) in 2009. LCA is a rare genetic disorder occurring in approximately 3,000 people in the United States. Nine months after that clinical diagnosis, genetic tests were able to pinpoint the mutation that was causing Finley’s progressive loss of vision. The gene affected was Reti­nal Dehydrogenase 12, or RDH12. Her parents, Mathew and Jennifer Pletcher, were in turn shocked, frightened, and hopeful as events slowly unfolded to give them a clearer picture of Finley’s condition, its cause, and what could be done to help her.

Jennifer cites subtle clues as she looks back on the first signs that something might be wrong with Finley’s vi­sion. “We started to notice she was acting quirky about 15 months,” she says.
Basically when she started walking,” Mat says.

Into everything,” Jennifer finishes. The comfortable back-and-forth between the couple is indicative of their close relationship and the sense of support that colors their own interactions and draws their family into a pro­tective fold. Jennifer and Mat have three children: Ar­lington, age eight; Finley; and Cainan, now four, who was adopted from China as a 14 month old Jennifer details other traits in Finley that triggered small alarms: the way she would turn her head to look at ob­jects instead of eyeing them straight-on and how she’d fail to spot her parents right away if she was standing at the top of the stairs and they were at the bottom. But she was young, unable to read and not prone to watching the televi­sion yet, so the more obvious cues were not yet present.

When the toddler phase com­menced, it was the clumsiness Mat and Jennifer attuned to more than anything. “She was always falling,” Jennifer says. They brought their concerns to Finley’s pediatri­cian, but the doctor was not concerned. “Finley was in the 90th percentile for height, so there was always an explanation for everything that was going on with her,” Jennifer says.

A rationalization,” Mat clarifies.

Yes,” Jennifer says. “They always had a reason. And it made sense.”

The couple’s decision to bypass the rationalizations in favor of a more specialized opinion was made when Fin­ley was 2 years old, about a year after their move to Con­necticut from Florida. A visit to a local optometrist led to an appointment with a pediatric ophthalmologist and finally to a retinal specialist in Hartford.

It was the retinal specialist who delivered the devastat­ing news. “He said ‘I don’t know what it is, but I can tell you that she’s going to go blind,’” Jennifer recounts. Then, like doctors do, he asked if she had any questions. Jennifer describes her astonished disbelief with charac­teristic levity: “I was like, ‘Buddy, I have nothing to ask because I don’t even know where to start.”

But she had to start somewhere. Jennifer’s first step was to call to her husband, who was in California on busi­ness. The news hit hard. Mat excused himself from the rest of the day’s work.

It was very hard to comprehend what this would mean,” Mat says. “You have all your hopes and dreams tied up in your children as it is, and you always want to try to have the perfect life for them.”
The Pletchers were then referred to Dr. Anne Fulton at Children’s Hospital Boston. Dr. Fulton, the country’s leading physician for LCA cases in children under the age of six, confirmed that Finley’s condition fell under her bailiwick. The results of extensive genetic testing that came back nine months later narrowed down the cause to the RDH12 gene.

Mat is in a unique position to understand the barrage of science that would become a part of their lives from that moment on. His current position at Pfizer has him doing work in a drug safety lab.
While Mat is modest about his education and profession, Jennifer speaks with pride about the extensive knowl­edge base Mat brings to the table.

He’s a geneticist,” Jennifer says.

Yeah, I got my Ph.D. in human genetics,” Mat amends with a grudging laugh. “It does make it a little easier because, whenever we’re reading the research papers, at least I have a little bit of basic knowledge. Retinal dis­eases aren’t anything I’ve ever studied, but at least I’m familiar enough with the jargon, the lingo, that we can kind of get through the papers and get something out of them. That certainly has helped some.”

It has,” Jennifer says, “a lot!”

Mat’s background in genetics has also proven beneficial in reaching out to researchers who specialize in retinal diseases. When the successful gene therapy for a dif­ferent form of LCA was developed at the University of Pennsylvania, he was able, through his connections there, to speak with the researcher who discovered the cure.

He knows what to ask,” Jennifer says. “He knows ex­actly what they need to hear and how to talk to the re­searchers because that’s what he does for a living. He’s been invaluable. It’s true! He undersells himself.”

With all Mat’s knowledge comes frustration. “It does seem clear to me that there’s a path forward, but I’m limited by what I can and can’t do within the confines of my job at Pfizer. I know what can be done and I can actu­ally go into the lab and eventually do it, it’s just that it’s not within the realm of what the job allows for me to do at this time. So, instead, it’s about trying to connect with people who ARE doing this right now, and it IS part of their job, and trying to find out how we can enable them to do the work,” Mat says.

Knowing the exact form of their daughter’s disease gives the Pletchers hope. In the middle of all the unknowns is an incontrovertible, scientific fact upon which they can frame their course of action. “We were relieved [when they found out the diagnosis],” Jennifer says. “We final­ly slept. Now we know what to do.”

To that end, Jennifer—who is a registered nurse—and Mat have added another job to their resumes. They are fundraisers. After a life-changing LCA conference in Philadelphia in July 2010, the Pletchers joined forces with four other families whose children possess the mutated RDH12 gene. Together, they created the RDH12 Fund for Sight. They have since been joined by another family from Eu­rope.

In a unified voice on their foundation’s Web site, the families explain the guiding principle born at the confer­ence: “It was at this time we decided we were not going to patiently wait in line for the research to finally turn its attention to our children’s disease. We were going to try to make sure that a cure would come before their sight left.” The families are encouraged by the development of a successful gene therapy for the RPE65 gene mutation that affects roughly 10 percent of the LCA population. The therapy does not just stop the retinal degeneration; it reverses it. “There is a route out there available to cure kids who have this kind of disease,” Mat says. “In all 3000 of the LCA cases, it is just going to require a specific gene ther­apy for each of the genetic versions.”

The hopes of the founding families of the RDH12 Fund for Sight have been further buoyed by the fact that they’ve secured a commitment from Dr. Jean Bennett of the University of Pennsylvania to carry out research on the RDH12 gene. This is the same researcher who led the development of the RPE65 gene therapy. The closeness of the cure emboldens the Pletchers. “It’s there. It’s just a matter of getting enough money into the hands of the researchers doing the work to make that happen for them,” Mat says.

The RDH12 Fund for Sight started with a goal of $70,000, the amount needed to cover the first year of re­search in Dr. Bennett’s lab. Local efforts have been orga­nized under the banner “Finley’s Fighters,” with support coming from the Pletcher’s hometown of Connellsville, Penn., and across southeastern Connecticut. In Connellsville, the high school students rallied behind Finley as part of the annual Homecoming fundraiser. Finley’s visits to the school put a face—an elfin one with bright blue eyes—on their chosen cause. The students brought in twice the amount they’d ever raised.

The RDH12 Fund for Sight has just presented its first check to Dr. Bennett. The Pletchers have every confi­dence in her abilities. “The cure will be sitting in a test tube by the end of the year,” Mat says. But the mission is far from over.

The cost of curing Finley—and the 85 children in the United States like her—grows with each passing year. The $70,000 start-up cost is actually the least expensive outlay of the entire project, which is expected to take approximately five years. Several phases of animal test­ing and a clinical trial will need to be financed before Finley’s Fighters can consider their battle won.

Mat and Jennifer have seen it happen. “One couple we met has a child with the genetic form of LCA that they do know the gene therapy for,” Mat says. “They signed him up for the next round of clinical trials. It was amaz­ing to think that, in a year’s time, it could all be over for them. Their kid would be cured. From that point on, the rest of their lives would be like it never happened.”

Without a cure, Finley is likely to go completely blind in her late teens or early twenties. Her vision has gradually deteriorated from 20/70 to 20/100 (the threshold for le­gal blindness) over the past year. This slow progression allows Finley to adjust to the change in such a way that the extent of the deficit is not readily apparent to those around her. Jennifer knows that Finley’s firecracker personality will take her far. “Based on what the doctors say, she shouldn’t be able to see very much, yet she just flies around and jumps around non-stop. She’s covered in black and blue marks because she does run into things constantly, but at the same time you would think that she should be much more cautious,” says Jennifer.
Mat agrees. Finley’s attitude, as he describes it, is gung-ho. “If something is sticking, she just keeps pushing on it till it either goes or breaks.” “No one is ever going to tell her ‘you can’t do it,’” Jen­nifer says. “She’s going to do it anyway, whether it’s safe or not. Hopefully when she gets a little bit smarter and a little older, she’ll use that to guide her. She’ll say ‘I can do this even though my sight’s not very good.’”

With Finley in fighting form, the Pletchers continue to rally the troops behind her. Mat and Jennifer can often be found fielding calls from people who want to help Finley di­rectly with dona­tions of items she may need as a re­sult of her condition. But the Pletchers’ message is always the same. “As much as we appreciate people wanting to do things for Finley directly and to get her things, that’s not what Fin­ley needs,” Mat says.

We’re a very blessed family with very good insurance,” Jennifer explains.

What Finley most desperately needs is the one thing her parents can’t provide: a cure.

More information can be found at www.rdh12.org and fin­leyfighters.org. You can also follow the Pletcher’s journey at www.pletcher5journey.blogspot.com. The RDH12 Fund for Sight is a component fund of the Spartenburg County Foundation. The Spartenburg County Foundation is a reg­istered 501(3)(c) charitable foundation, so all donations to the RDH12 Fund for Sight are tax deductable

1 comment:

holly said...

Great article! and you are an amazing family, your determination is inspiring.