What do you see when you look through your eyes? Is it simply whatâs before you â" a landscape of objects, a palette of textures?
Or is it something deeper â" like visions of what could be or memories of what once was?
In the case of Zach Thibodeaux, itâs what you can, while you can.
Last month, in the offices of Dallasâ Retina Foundation of the Southwest, what 9-year-old Zach saw was this: a series of flickering lights, viewed in near-total darkness through the cavity of a hollow sphere straight out of Jules Verne. An electrode gripped his numbed eyeball, capturing his electrical responses.
Nearly two years ago, the fourth-grader at Mary Immaculate Catholic School in Farmers Branch was diagnosed with cone-rod dystrophy, a genetic disease that â" despite some promising gains â" remains without a cure.
His return visit to the medical facility that had finally diagnosed his condition marked a small milestone. While his parents didnât expect much positive news, what they did hope for was something tangible to hold on to after those years of difficulty and uncertainty.
As Zachâs sight has rapidly diminished, theyâve groped for answers. At the same time, theyâve nurtured their science-obsessed sonâs curiosity and boyish joie de vivre, all while preparing him for the prospect of blindness and his growing academic challenges.
See Zach now compared with two years ago, and youâll see a boy whoâs excelled at Braille, mastered the abacus and learned to get around with a cane.
Assistive technologies have helped him with reading and communication, and in January, he earned a companion dog to help prepare him for the responsibility of having a guide dog someday.
Heading into the Retina Foundation exam with his mother, Johanna Uek of Lewisville, Zach was chatty and fidgety, having just returned from family trips to Cape Cod and California.
With the help of an airline discount, Uek had also taken him on a quick jaunt to Niagara Falls â" part of an ongoing mission to provide iconic images heâll no longer have a chance to see once his sight is gone.
After a blood draw, foundation researcher and clinical trials coordinator Kirsten Locke gave Zach an eye-chart test that stretched his patience; from the other side of the small room, his left eye covered with a patch, he couldnât read any letter smaller than 6 inches high. He saw an N as an A, a B as an F; a V drew a long pause.
âCan you give me your best guess?â Locke asked.
âI just see a bunch of sparkles,â Zach answered.
Finally it was time for Zachâs electroretinogram, or ERG, in which he would gaze into the hollow sphere called a ganzfeld stimulator. A few eye drops would numb his eye for the first electrode.
She fastened a second one to his head.
âWhatâs that for?â he asked.
âItâs so youâre grounded. But not because youâve done anything wrong,â Locke said.
Zach smiled. And with a patch over one eye, the electrode gripping the other and wires trailing from his head, he seemed a cyborg, the kind of experiment he would probably be excited to be working on.
âI can tell why it would hurt if it wasnât numb,â he said.
Said his mother: âYouâre a brave little trouper.â
The Retina Foundation sees four to five new patients weekly, all with genetic conditions for which few to no treatments exist. The most common is retinitis pigmentosa, which eliminates sight at the periphery and moves in.
The next most common is cone-rod dystrophy, whose roots lie in ABCA4, the same gene that causes Stargardt disease, another degenerative eye condition.
Zachâs problems began to surface several years ago. He had trouble seeing at night. Bright light was tricky, too. At school, his math scores faltered as he misinterpreted numbers on the board or missed seeing them altogether.
Two doctors told Uek the same thing: His eyes look fine; heâs young; heâs stressed; heâs just getting used to his glasses. But then he started running into things. His face was practically on the table as he did his homework. He wouldnât make direct eye contact.
Four ophthalmologists and a neurologist later, Zach came to the foundation, where a similar ERG unveiled the chaos within his seemingly normal eyes. âHe sat so still,â Uek recalled. âHe was so determined to find out what was going on.â
Deep within, the system had malfunctioned. Typically, waste produced by our electrical reactions to light is absorbed by the eye. In Zachâs case, the process had broken down, and the toxic buildup was killing the rods and cones of his retinas.
Typical of the disease, the damage has ravaged the center of his vision and moved outward. The sight remaining at his periphery helps him navigate and stay oriented. On the surface, though, his eyes look normal.
âHe gets stressed out,â Uek said. âItâs really hard, because when people see him, he does so much they donât think heâs blind, and the things he canât do, they donât get it.
âWe went to get him a passport, and the lady said, âLook straight ahead,â and he said, âI canât.â I had to tell her he was legally blind.â
Fighting on all fronts
Here is what his parents see: a growing boy who for years seemed like any other, a boy full of love and life and potential now threatened by a force no fault of his own.
In response, theyâve tried all they can to help him fight what seems a losing battle. Prayer circles early on, then medical care and research.
Last fall, Uek and Zach saw optometrist Stephanie Fleming of Dallas Servicesâ Low Vision Clinic, who noted promising studies involving stem-cell treatments or artificial retinas in places around the globe, some of which Uek had already heard about.
She and Zach are all over the latest research, seeking anything that could help his vision or slow or even reverse his deterioration â" medical developments, supplements such as vitamin A or acai â" even kale.
âOh, boy,â Fleming said when she heard that. ââThanks, mom.â The boy can eat kale all day long, and it wonât help his vision that much. I believe in french fries â" thereâs some benefits there. It makes the psyche much happier.â
So yes, french fries and ice cream are part of Zachâs regimen, too. But medical advances are still out of reach, untested. Fleming encouraged Zach to be patient.
âYou donât have to be the first person out of the gate to try it,â she said. âYouâre young. â¦ Thereâs some promising work with artificial retinas. Stem-cell research is even more promising.â
Last month, at the Retina Foundation, Uek told CEO and chief scientist David Birch about advances sheâd heard about in China. Maybe they should take him there?
âHeâs going to be better off waiting until sites open up in this country,â Birch said.
One British firm has made exciting progress in gene-replacement therapy, and it shouldnât be long before trials are available in the U.S., he said. As with televisions, everything improves every few years.
He agreed stem-cell research, including trials being conducted at UCLA, looks most promising at the moment.
âWe can put stem cells into the retina right now, but they still donât make the connection to the brain,â Birch said. âBut within a few years â¦â
The dayâs examinations showed Zachâs optic nerve and the surrounding blood vessels continuing to deteriorate as his photoreceptors â" which capture light and convert it into electrical signals sent to the brain â" are being killed off.
Later, Uek said: âI knew itâd be bad news. But it gave us a reference to go with. You know, we donât have forever.â
As they left the foundation offices, Zach put on the oversized sunglasses theyâd given him to protect his eyes from the sun. âOK, LL Cool J,â Uek said as the elevator doors opened.
Through his eyes, Zach still saw a world of imagination that only a childâs eyes can create.
âWatch, Mom,â he said as they stepped inside. âThis is how you walk like a squid.â
And he spread his arms and legs wide and danced side to side, wiggling, as Uek shook her head, smiling.
About the series
Nine-year-old Zach Thibodeaux is going blind, the result of a condition called cone-rod dystrophy, a degenerative disease for which there is no cure. In â Zachâs Journey,â staff writer Marc Ramirez and our photographers are chronicling the Lewisville boyâs passage into darkness.
READ Zachâs full story in our e-book Zachâs Journey, available for all e-readers at dallasnews.com/ebooks.
READ previous installments of the series at dallasnews.com/zachsjourney.