Living with Stargardt Disease

Narrator: 11 Year old Meaghan’s parents had never heard of Stargardt and initially thought their daughter only needed glasses. Then they received her diagnosis.

Meaghan’s Mom: For us at that point in time it was devastating. It was so difficult to hear that your child was diagnosed with a condition that was going to affect her vision, and she would be legally blind. At that point they were words; we really didn’t understand what it would mean for us or for Meaghan.

Meaghan: The toughest thing about having Stargardts is that you can’t see exactly everything that everybody else can see.

Narrator: When Meaghan was diagnosed her eyesight was 20/50. It has rapidly deteriorated to 20/200. But large-print books and vision enhancing devices allow Meaghan to learn at a normal pace and remain in the same school she has always attended. Dylan is a high school student who also has to deal with the challenge of Stargardt. His school, however, is providing priceless support.

Dylan’s Mom: They have helped Dylan from the onset. They called in specialists. I guess it took about 2 months to get everything in place, get his equipment ordered. He uses a cctv and all of this was done by the school.

Dylan: When I’m sitting in class if I don’t use my machine, my cctv, to see the board, I can’t. It all just looks like a blur and I can’t see nothing. I can zoom in how close I want to; zoom out to find things around the classroom.

Narrator: The school also provides an aide for Dylan and the state provides a specialist who comes in to work with Dylan once a week to make sure he’s using his assistive technology and vision-enhancing equipment properly.

Principal: That device allows him the same opportunity that every child in the room has. Nothing really changes with a visually impaired student in the room. Having a student like Dylan in the room is just the real world, its life.

Narrator: Kristal is 49 years old. She was diagnosed with Stargardt in the 3rd grade when the teacher told her parents that she had cried in class because she had trouble seeing the blackboard. Her mother took her to an ophthalmologist.

Kristal’s Mom: When they flipped those little things, does it look better this way or does it look better that way, all she could see was the big E. Then the ophthalmologist said to me, “She will not go totally blind.”, which was kind of a shock because I just thought she needed glasses.

Narrator: Soon thereafter, another shock, there is a genetic component to the disease and Kristal’s brother was also found to have Stargardt. Today, Kristal works at the Boy’s Town National Research Hospital, in Omaha, as a genetic counselor and vision-program coordinator.

Kristal’s boss: The fact that Kristal was legally blind was not a consideration at all when we hired her. She had so many capabilities and skills. Kristal has been an outstanding employee from day one.

Narrator: Kristal uses assistive technology to help with her work. A computer with a speech synthesizer helps her read information on a screen, and she uses a small camera and closed-circuit TV to enlarge material up to 60 times.

Gabriel Travis, MD: In my laboratory at UCLA we are working on a mouse model of recessive Stargardt’s disease and and we have seen very promising effects with a drug. This drug will be entering clinical trials in Stargardt disease patients over the next year or two and we are optimistic that we will see a therapeutic effect in those patients.

Kristal’s Mom: People often talk about your attitude being more important than the ability and I think that Kristal had a good attitude about her blindness and was able to accomplish a lot of things because of that.

Kristal: The biggest and I think most important thing is just to be as comfortable with yourself as possible. That gave me the self-confidence as an adult to be able to raise my children and have a normal, happy life.

Gabriel Travis, MD, Professor of Ophthalmology and Biological Chemistry
UCLA School of Medicine