Jan. 02--Fourteen-year-old Marie Zaknoun was playing in her backyard with a friend last fall when she began covering and uncovering her eye with her hand, a habit from early childhood.
She went inside her Joliet home and announced to her mother, Loulou Zaknoun, that she could no longer see out of her right eye.
"It's a blur," Marie Zaknoun remembers saying.
Although the news wasn't entirely unexpected, her mother cried.
The Plainfield Central High School freshman's sight has been slowly and subtly fading for most of her life, she and her family said. She was born with Leber's Congenital Amaurosis or LCA, a rare inherited degenerative disease of the retina marked by vision loss at birth. It affects around 3,500 people in the United States, said Dr. Stephen Rose, chief research officer at the Foundation Fighting Blindness.
Many children with LCA are born blind. Some like Marie Zaknoun describe their vision loss as gradual, laced with uncertainty as to how or when it might fade. Amid this unpredictability, the Zaknouns along with other local families grappling with LCA hold out hope for future treatments to restore vision, and are particularly enthused by recent advancements in gene therapy.
There's Lee and Lori St. Arnaud of the La Grange area, who sometimes wish their two children with varying levels of vision could see their faces clearly. And there's 17-year-old Alan Brint of Highland Park, who is blind but has light perception, and whose parents fear this sense will one day go dark.
But the families say it can be a delicate balance to remain hopeful about potential treatments while at the same time accepting loss of sight.
"I feel like I walk this tight rope between acceptance and hope," said Alan's mother, Betsy Brint.
Frustration and gratitude
At the age of 6, despite having low vision, Marie Zaknoun remembers running across a darkened stage and performing in a ballet recital, something she couldn't do alone today. By fourth grade, she said, she was reading large print but after long periods of studying, everything would darken. She'd briefly fear she'd gone permanently blind, but her vision would return. Sight in her right eye, always the weaker one, had become increasingly blurry in late spring and summer, according to her medical records.
Now she walks with a cane and reads and writes in Braille, aids she'd resisted using as a small child, in part out of denial that she would ever need them. She says she can't see at all out of her right eye and has limited vision in her left eye, with some sight straight ahead but little in the periphery, like looking through a telescope.
While Marie has moments of frustration, she said she's learned to flourish with little vision. She loves to sing, and believes her sense of hearing is superior compared to most people with typical sight. She would like one day to work as a rehab specialist for clients who are blind or have impaired vision, a calling she might never have found without her own vision loss.
But she is very scared of her sight fading any further.
"I would hate to lose that vision," she said. "Losing it would just be so different, I don't know how I would take it."
She sometimes wonders if it would have been easier to be born with no vision rather than having some sight that ultimately fades.
But she said she appreciates having experienced color -- after all, how do you explain the concept of orange to someone who's never seen a sunset?
She recounts the litany of sights that have given her joy over the years -- the blue waters of the Mediterranean Sea in her ancestral homeland of Lebanon, the jumping dolphins from the front row at Sea World, the burst of fireworks each Independence Day, with her parents guiding her line of vision.
She's also grateful to have seen the faces of her family and friends. Marie fears that one day she will no longer be able to see them, and that she could forget what her mother, father and younger sister and brothers look like.
"I'm grateful for my vision," she said.
'I can't describe it'
Lori St. Arnaud remembers sensing that something wasn't right as she nursed her newborn son, Patrick, and his big blue eyes never looked back at her.
He was diagnosed with LCA as a baby. Blind from birth, his earliest months were a whirlwind of physical, occupational and visual therapies. Lori and her husband, Lee St. Arnaud, were so overwhelmed at first they thought there was no way they could have another child, in part because there's a 25 percent chance the inherited disorder would be present in the next baby.
"But then we thought, you know what, if our next child makes us half as happy as Patrick has made us, we'll be fine," said Lori St. Arnaud.
Mirielle St. Arnaud was born 21 months after Patrick. Despite the odds in vision's favor, she too was born with LCA, though her sight is better than her brother's.
Mirielle, now 7, has some central vision but nothing on the periphery. She describes it as looking through a tube the size of a pencil. Patrick, 9, only has light perception, though his parents say this sense has darkened in his right eye over the years.
Patrick helps Mirielle with Braille. Mirielle sometimes narrates events she can see but he can't.
"Sometimes I wonder what it would be like to be completely blind," she said.
Mirielle has asked her brother what it's like to have no vision.
"I can't describe it," he said, laughing a little.
Without treatment, Mirielle's sight could wane at some point, said Dr. Irene Maumenee, a research professor of ophthalmology at the University of Illinois College of Medicine at Chicago who has assessed the St. Arnaud kids.
"It's usually so subtle, and it's so slow from one day to the next, from one year to the next," said Maumenee, adding that patients might not be aware of the progression.
Scientists have discovered more than a dozen different genes with mutations that cause LCA, and the various genetic subtypes can affect the retina in different ways, said Dr. Gerald Fishman of the Chicago Lighthouse for People who are Blind or Visually Impaired. For example, Marie's affected gene is different from the St. Arnauds' affected gene.
Some experts say the number of LCA genes is as high as 21, with others potentially undiscovered, making it a hard condition to treat.
Maumenee is studying treatments for one particular gene and believes within 10 to 20 years there will be gene therapy treatments for most LCA subtypes.
The St. Arnaud parents would love for Patrick and Mirielle to be able to see, to keep them safer and help with social and communication skills.
"I think our kids are ready for society, but I don't know if society is ready for them," Lee St. Arnaud said.
The kids, however, didn't seem as concerned.
Patrick said he likes being blind. Mirielle said she doesn't want her vision to decrease, but she wouldn't choose to improve her vision.
"I think I don't want it to change because I like being who I am," she said.
Possible treatment
Alan Brint is preparing to study business in the fall at Beloit College in Wisconsin. He has LCA and was born blind but with light perception. This means he can sometimes detect objects in his path, even if he can't see them the way a sighted person can, but it's a tremendous help in terms of mobility and safety.
He can walk by himself with a cane nearly a mile from his home to school in the daylight. But darkness is far more challenging. One evening he went outside without telling anyone and was locked out: The teen was lost in his backyard until he heard a car in the driveway.
His condition has stayed roughly the same over the years. But his mother said she fears the day will come when his light perception starts to wane, a likely outcome without any treatment.
"If I could just stop you from going dark," Betsy Brint said to her son.
About seven years ago, researchers successfully injected a healthy gene into the eyes of LCA patients with mutations in a particular gene called RPE65, with patients reporting vision improvements and objective tests showing increases in visual function, said Rose of the Maryland-based Foundation Fighting Blindness.
But he said there are still significant hurdles: No one knows how long those treatments could last long term, each form of LCA would likely need its own distinct treatment, and research is very expensive.
Betsy Brint and her husband, David Brint, in 1998 launched the Foundation for Retinal Research to raise money for treatment research for LCA and support other families. The St. Arnauds have sponsored about a dozen fundraisers for that foundation. The Zaknouns held a charity raffle in November for the RDH12 Fund for Sight -- named for Marie's affected gene -- based in South Carolina.
Betsy Brint would love for her son to see himself in a mirror. She wants to show him what color is. She'd be excited for him to see a Blackhawks game, rather than listening to it on the radio.
"He doesn't know what he doesn't know," she said.
Alan Brint, a swimmer who loves to make everyone around him laugh, said he doesn't ruminate about potentially losing his light perception. He said it would be cool to see one day -- he'd like to know what his own face looks like -- but he doesn't fixate on whether there's a treatment out there that will improve his vision.
"I don't think about it," he said. "I just focus on now."
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