retinitis pigmentosa

Stars' Eyes: Vivian Stancil

Between her mother dying when Vivian Stancil was just seven years old, and her father suffering from alcoholism and tuberculosis, you would think that Vivian would have already dealt with her lifetime allotment of challenges before she left grade school. But you’d be wrong.

Or perhaps you’d guess that maybe this girl who started raising her four younger siblings when their father died, before eventually living in three different foster homes, couldn’t possibly bear any more adversity. But again, you’d be wrong.

At age 19, Vivian was diagnosed with retinitis pigmentosa, a genetic eye disease that causes gradual vision loss, and as of this writing, does not have a treatment that can reverse it. Retinitis pigmentosa causes the light-sensing cells in the retina, the rods and cones, to die, and patients with this condition typically experience difficulty seeing especially in dim light, as well as reduced peripheral vision; it can sometimes take away their central vision as well.

Despite all these hardships, Vivian — who is now legally blind — didn’t let life get her down. After earning her degree, she went on to teach kindergarten in southern California for more than two decades. After retirement, unfortunately, Vivian’s problems were far from over, as she experienced depression and became severely overweight, at more than 300 pounds at 5 feet tall.

vivianstancil

Faced with extremely high blood pressure, and told by her doctor that he didn’t expect her to live ten more years, Vivian again beat the odds, by doing something she had never done before: swimming.

Beginning at age 50, Vivian learned to swim, and has taken to the water like, well, a fish. Counting her strokes and listening to the sound of the water hitting the lane markers to tell where she was in the pool — because, remember, she doesn’t have useful vision! — Vivian began to lose weight and become healthier. She’s lost over 100 pounds, and has become a competitive senior swimmer, winning a whopping 271 medals at the local and state level.

“What I want to tell children and adults is, ‘you can be whatever you want to be, if you put your mind to it.’ I have problems just like everybody else, but I don’t allow them to get to me. I want to be able to leave a legacy to my friends and to the community.” - Vivian Stancil, in an interview for Amy Poehler’s Smart Girls website

Stars' Eyes: Danelle Umstead

Umstead has won three Bronze medals in alpine skiing in the Paralympic Games

Umstead has won three Bronze medals in alpine skiing in the Paralympic Games

Danelle Umstead is used to turning heads as she flies down the alpine slopes. An accomplished skiier, Umstead has made three Paralympic teams and won three bronze medals, an incredible feat for anyone, let alone someone with severely limited vision.

Umstead has a genetic eye condition called retinitis pigmentosa (RP), which affects the photoreceptor cells in the retina — the rods and cones — and has caused Umstead to lose her vision. Like so many people with severe eye disease, she hasn’t let this stop her.

Now, Umstead is turning heads for a different reason. Fulfilling a longstanding dream, she is competing on ABC’s fall season of “Dancing with the Stars,” partnering with Artem Chigvintsev. Umstead is the program’s first visually impaired contestant.

“I have no central vision whatsoever,” Umstead says according to an article on Team USA’s website, and also acknowledges that in her “peripheral vision, there’s big, black blind spots closing into my central. So I just have little pieces left between the two here and there.”

Patients with RP typically experience decreased vision in dim light and reduced peripheral vision, which may progress to involve their central vision as well. At the time of this writing, there is no cure for this disease. However, the future is bright for patients with inherited eye diseases like RP, thanks to the determined research and tireless efforts of many, many patients, scientists, and doctors, who have recently produced the first commercially-available treatment for an inherited eye disease, as I discuss here.

Here’s Umstead’s first performance on Dancing with the Stars, dancing the foxtrot:

Podcast: Retinitis Pigmentosa

I recently had the privilege of joining the Four-Timers Club as a guest on the excellent Straight From the Cutter's Mouth podcast. During this episode, host Dr. Jay Sridhar and I reviewed retinitis pigmentosa and some systemic syndromes, such as Usher syndrome and Bardet-Biedl syndrome, that include retinitis pigmentosa as part of the condition.

Here's a link to subscribe to this top-notch podcast on iTunes.

Retina podcast