Rare Disease Day: What 5 Kids with Low Vision CAN Do

In honor of Rare Disease Day, I caught up with some of the wonderful families I’ve met whose children have Leber congenital amaurosis. Only 2 to 3 of every 100,000 newborns has LCA. These parents talk much more about what their kids can do, than about what they can’t. And that means developing other senses into astonishing talents, or mastering skills that sighted children do, such as athletics.

I decided to spotlight these great kids when I read a post from Kristen Snyder Smedley on Facebook a few days ago:

“Have you ever been SO proud of your kid that it makes tears stream down your face? Last night I watched Michael in a major theater performance. For almost two hours he kept up with choreography, sang every word, ran up and down steps and bleachers, and knew his mark every single time… and he couldn’t see a thing, with the stage lights interfering with his minimal vision. The best part: he didn’t want me at one rehearsal. He met with the staff to review what was too visual for him to know. He couldn’t follow what the others were doing so he had to memorize it all. And he even knew which kids were going to forget which parts and he was ready to adapt. He totally nailed it. Just. So. Proud.”

I first met these families at the annual meeting of the Foundation for Retinal Research in 2010 and/or 2012. Their children live in a fading world or were born directly into darkness, but the families all have incredible and realistic hope, thanks to recent new treatments for blindness. A blog from 2010 captured the families meeting then-9-year-old Corey Haas, who is now fully sighted thanks to gene therapy for LCA2.

That day vividly demonstrated “genetic heterogeneity,” mutations in different genes causing the same phenotype (symptoms). The families sorted themselves out by mutation in the conference center, and their Facebook pages echo this biological classification.

The several types of LCA disrupt genes that impair the photoreceptors (rods and cones) that signal the brain in response to light, or the retinal pigment epithelium (RPE), a thin layer that hugs the rods and cones and takes care of them, providing nutrients, removing wastes, and sopping up stray light rays. LCA is a severe form of retinitis pigmentosa (RP).

Identifying a causative mutation is the first step towards gene therapy. Two of the kids featured here, Gavin and Shianne, have mutations in the most recently discovered LCA gene.

So as families head to Washington this week for Rare Disease Day, here are some glimpses at what a few terrific kids CAN do.

SHIANNE
Colleen Durdin, from Australia, suggests on the website for her 3-year-old daughter Shianne that people who have never had sight have sharper senses than people who once could see. She counts the ways.

“While we’re outside playing, Shianne will ask me where the dog is, a sound she’s heard and I haven’t noticed.

I’ll walk into her room and stand beside her without making a sound and with her nose in the air she’ll ask if I’m there.

I’ll give Shianne a piece of fruit or a packet of chips and she’ll tell me what the fruit is or what flavor the chips are.

Someone who Shianne has met before will say hello and Shianne will know who it is and say hello using their name.

Shianne will hear the sound of the frying pan sizzling and ask what’s for tea.

We take so many things for granted and it’s not until you meet a person with a vision impairment that you realize how out of touch with reality we can become. Naturally no one would like to be blind and we often feel sorry for those who are, but take a step back and imagine how wonderful it would be to be able to heighten our other senses and think to yourselves: Maybe we are the unlucky ones.”

FINLEY
Hi! Finley, who’s 6 ½, can:
• Ride a bike
• Play board games and iPad games
• Take her dog for a short walk
• Get the mail
• Color pictures
• Write words
• Feed and dress herself
• Walk on a balance beam (a low one) at gymnastics
• Sled ride
A lot of things!!!

Jennifer Pletcher (Finley’s Fighters)

GAVIN
Following the activities of little Gavin Stevens first made me aware that the kids with LCA have musical gifts. About a year ago I spoke with Troy Stevens about his son, who has been completely blind since birth. A cacophony was a backdrop to our phone conversation.

“That’s Gavin,” Troy laughed. “He loves doors and cabinet drawers. He likes the noise when he opens trashcan lids, the refrigerator, cupboards. He’s opening and closing the bedroom door as I talk to you. He also loves the sound of running water in the sink, the shower, and wants to go in the bathroom and turn it on, turn it off.” Then he put Gavin on the phone.

Gavin loves all music, from classical to country to rap. “His favorite part of music is the beats. He likes to dance, and he’s really into hiphop because of the different drumlines. He taps his chest with his hands to the beats of the music, and he does beatboxing. I can turn a song on and he’ll tell me who’s singing it. His favorite singer is Pitbull (mine too! RL). He holds our iPhone to his ear everywhere we go. He’s constantly listening to music.” Youtube captures Gavin singing  “We Are Young.”

Troy and his wife Jennifer noticed that from about 9 months of age, Gavin could hear a tune once, and then sing it, perfectly. And as soon as he was old enough to sit at a piano, he’d pick out tunes he’d just heard for the first time – complex ones. And so he’s just started at the Academy of Music for the Blind, in an LA suburb, the youngest student they’ve ever had. The academy is a legacy of Ray Charles.

“Gavin goes for a full day on Saturdays, and takes classes in piano, percussion, string instruments, and keyboard. He also takes dance/movement and voice lessons.
Gavin loves going to ‘the academy,” and he’s thriving learning new techniques and instruments!” reports Jennifer.

EME
“Eme is 6 now and has vision deteriorated to 20/800 and 20/1200. Nonetheless, she loves rock climbing and climbs the wall faster than most kids with vision! We call her ‘blind monkey.’ She goes across any bars forwards and backwards.

The backwards thing popped up again just this week as she had her piano debut auditioning for her school talent show. Eme played a song like normal, then she turned around and played it standing with her back to the piano, and then she laid down on the bench and reached up and played it with her head below the keys while she laid perpendicular to the keys. She’s a first grader in Prince William County Public Schools in Northern Virginia and just started taking piano lessons in November of last year.

She also plays the ukulele and drums, but the piano is by far her favorite. It clearly tickles her ears and her soul. When she first started taking lessons, her daddy took her to Costco to get an electronic keyboard. She played it once.

“This isn’t a piano, daddy.”

So he explained the differences and similarities.

“I want a piano, daddy. This doesn’t sound like a piano.”

Thanks to dedication from her piano teachers and a Habitat for Humanity ReStore we were able to get the little piano snob a real piano!”

Tabatha Mitchell, MSPH

MICHAEL
More from Kristen Snyder Smedley, whose sons Michael (13) and Mitchell (9), have LCA due to mutation in a gene called CRB1.

“From the time Michael was very little my husband Mike and I sought out activities he could do with his minimal vision. Michael has always done everything the sighted kids do, with all the adaptations to make it work. I believe it is that ‘all day every day inclusion’ that’s given him the foundation and confidence to chase his dreams, even as his minimal vision declines.

Michael grew up playing in the neighborhood football league. He was never the star, but he was usually the most determined, the most coachable, and one of the best teammates. Those qualities helped him learn the game and landed him the starting center of his middle school football team this year. His guard leads him out of the huddle to the ball, and then he takes over – snapping the ball to the quarterback and protecting him.

Michael played baseball, first in a blind group to learn the mechanics, and then in the neighborhood league. A teammate would field the ball, hand it to Michael, and Michael would throw it in to where he was told the play was. He had to hit off of a tee since he can’t see enough to see the pitch. Most 10, 11 and 12-year-olds would be too embarrassed to hit off a tee, and Michael had his issues with it at first. But once he realized it was the only way he could contribute to hitting for the team, he embraced it… and for a few seasons he led the team in RBI’s!”

Michael also wrestles, skis, swims and surfs. “He taught me how to stop looking at the waves and start getting a sense of the patterns, the feelings of the water to know when to ride a wave,” Kristin says.

But it’s onstage that Michael really comes alive, in dramatic performances captured in the Facebook post that inspired this blog. He also plays keyboards in an award-winning rock band. “Michael can’t see sheet music, so he listens to songs and picks out the instrument he’ll play and memorizes that part. He’s working with digital music programs to compose music through his keyboard and computer.” The family is taking part in a fundraiser, Bike the Basin.

Help these families or others! Please donate to the Foundation for Retinal Research, the Foundation Fighting Blindness, or other organizations that support the nearly 30 million people in the United States alone who have any of 7,000 diseases that each affect fewer than 200,000 people. It’s Rare Disease Day!