Genetic testing is paving a path for future generations.

Like many, Janni’s journey started with a clinical diagnosis—but she didn’t stop there. She turned to genetic testing to discover exactly which gene caused her retinitis pigmentosa (RP). Now, Janni is sharing her story to inspire others to do the same.

 
 
 

Transcript

[Janni reaches for a doggy raincoat. It’s teal with a pattern of yellow rubber ducks. Janni puts the coat on her black Labrador, Shiloh. Janni grabs Shiloh’s guide dog harness and puts it over his head. She buckles the harness in place. Janni gets close to Shiloh’s face and gives him a kiss on the nose. She stands, turns, and they both walk out the front door.]

Janni: I was diagnosed at 26. The first thing we did, of course, was get a second and then a third opinion. Every one of the experts confirmed that I did have this inherited retinal degenerative disease called retinitis pigmentosa.

[Janni is sitting in her living room talking to the camera.] 

Janni: And they pretty much uniformly told me that I should go home and go blind.

[Janni and Shiloh, who is still wearing his rain coat and working, walk down the front steps in front of Janni’s house. She gestures for Shiloh to go left and they walk down the sidewalk. As they walk, the camera zooms into Shiloh’s hind legs and pans up to Janni’s side profile. The camera zooms in on Shiloh’s harness and then zooms into Shiloh’s face.]

Janni: Come on Shiloh. Let’s go. Left, left.

I practiced law for a number of years after my diagnosis. I continued in my job at my law firm in Washington, DC. But we decided to relocate to San Francisco.

[Back to Janni in her living room, talking to the camera.]

Janni: And my doctor on the east coast recommended that I contact UCSF and seek out Dr. Duncan.

[A hand moves a small, delicately machined wheel on a silver medical device. It’s a highly technical machine that can take pictures of one’s eyes’ rods and cones. We see a woman’s face. Her chin is resting on an attachment of the machine, similar to how a chin rests when getting a routine eye exam. Dr. Duncan appears and we see her adjust the medical device and assess the woman’s eyes.]

Dr. Duncan: Janni has been very eager to advance the research and to try and learn as much as she could about her disease.

[Dr. Duncan, sitting in her lab talking to the camera.]

Dr. Duncan: One major piece of the puzzle that can be really helpful in understanding how a disease is inherited in a family—and what a patient can expect for the future—is to try and learn which genetic mutation among the over 300 that have been described is causing vision loss in that patient.

[Dr. Duncan once again assessing the patient in her lab.]

Dr. Duncan: It’s really important for patients to get genetic testing.

[Back to Dr. Duncan in her lab, talking to the camera.]

Dr. Duncan: A lot has changed in the last 10 or 15 years, and every day there are new discoveries that may be beneficial to patients. 

[Dr. Duncan assessing the patient in her lab and reviewing images with a lab technician. The camera zooms in on the images.]

Dr. Duncan: On many, many occasions, the results of genetic testing have revealed a patient is a candidate to participate in a clinical trial. It also helps you understand what other family members in your family might be at risk. 

[Back to Dr. Duncan in her lab, talking to the camera.]

Dr. Duncan: When patients find out they have something that runs in families, their first concern is whether their children are at risk, and whether the children should be tested, and what to look for in their kids.

[Janni and Shiloh are led into Dr. Duncan’s office by a woman.]

Dr. Duncan: Hi, Janni! So good to see you.

Janni: Hi, Jacque!

Dr. Duncan: So good to see you.

[Dr. Duncan and Janni both take seats at Dr. Duncan’s desk. They talk to each other across Dr. Duncan’s desk. The camera zooms in on Dr. Duncan’s face.]

Janni: I was initially tested 10 years ago, and it was surprisingly simple. It involved providing a blood sample and then what we decided to do with the results was up to us. 

[Back to Janni in her living room, talking to the camera.]

Janni: The gene and the mutation that has caused blindness in my family, not only for me but also for my younger sister, is called the K-I-Z gene.

[Janni is in a grocery store. She grabs parsley and smells it. She grabs cilantro and smells it. She puts two red bell peppers into her shopping cart. The scene switches to the grocery store’s butcher. We see cuts of meat in the butcher’s display case. Janni tells the butcher what she wants. The butcher reaches for the cuts Janni has selected and hands her a bag with her order. The video cuts back to Janni in her living room, talking to the camera.]

Janni: Our genetic counselor told us that there was a chance that the inherited disease that I had would be passed on to future generations. And, it became important to me to help my family understand that this is something that is carried in our genes and that the more information we have about it, the more capable we will be.

[The video cuts back to the grocery store. Janni is holding a carton of blueberries. She opens the carton’s lid and feels the blueberries.]

Janni: They are, in fact, blueberries!

[Janni is standing in the frozen food aisle. She holds her mobile phone in front of the ice cream case.]

Aira App: Thanks for calling Aira. How can I help you?

Janni: It’s Janni and I’m looking for [indecipherable name] ice cream.

Aira App: Can you tilt the camera down so that I can make sure it’s all the way…

[Back to Janni in her living room, talking to the camera.]

Janni: Because we live in this incredible time of science and technology and shared information, I believe that it’s worth it to do this very unintrusive, minor test in order to make your life richer and more complete and more engaged.

[Janni is sitting cross-legged in a yoga class. Shiloh is laying down at the top of Janni’s yoga mat. There are other participants in the class. Janni and the class practice moving into downward dog and reverse warrior II. The yoga instructor adjusts Janni’s form. The video cuts back to Janni in her living room, talking to the camera.]

Janni: At this point, it seems unlikely that there would be a treatment that would affect me. But what may become available—as the result of science—to people who are challenged by blindness is just almost beyond imagination.

[A zoomed in image of Shiloh lying down with his head on the ground. There is text over the image that says “Special thanks to Shiloh the guide dog for his contribution. Good boy, Shiloh!”]


 

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