ProQR is honored to welcome the multi-talented Rebecca Alexander as the EFF 2020 Keynote Speaker. Rebecca was born with Usher syndrome type III causing her to lose both her sight and hearing. She is an advocate for people with vision and hearing loss, athlete, psychotherapist and author. In this blog post, she offers advice for people living with genetic eye disorders and hearing loss, their caregivers and health care professionals, shares her perspective on clinical trials and her inspiring words on how to live your best life.
Q. You were diagnosed when you were about 12 with Usher type III – can you explain how receiving that news felt?
A. I actually wasn’t diagnosed with Usher syndrome Type III at the age of 12. I was only diagnosed with retinitis pigmentosa. It is nearly impossible for a 12 year old to try to wrap their head around the concept of going blind. At the time, my parents addressed my vision loss by supporting me with what I needed at that time. I knew that I would need to hold on to somebody’s arm when I walked in a dark environment like a movie theatre and that I needed to scan because I was more susceptible to tripping over things below me. My official diagnosis with Usher syndrome did not happen until I was 19 and a sophomore at the University of Michigan. At the time, Usher syndrome type III had not yet been identified so doctors’ were not sure which type I had. My own family’s bloodwork helped researchers finally identify Usher syndrome type III.
Q. For anyone that is newly diagnosed with a genetic eye disorder, is there any advice you can give them?
A. You are not alone and there are tremendous resources out there. It is also a very personal experience and each person comes to terms with it in their own way. Finding support and people who are living with similar challenges is incredibly important.
Q. Communication around a diagnosis is crucial, is there something you wish your health care providers had done differently/wish they knew, leading up to and right after diagnosis?
A. Health care providers must remember that while they are clinicians and researchers, they are also working in a helping profession. All patients receive and process their diagnoses differently. Health care providers should always be prepared before delivering a diagnosis to any patient —which means communicating with care, answering questions with compassion, and providing resources for the patient to use when they leave a health care provider’s office.
Q. Do you have any advice for a parent or caregiver as they support an individual through their diagnosis?
A. I strongly encourage parents to get the support they need when receiving a diagnosis to address their own fears and feelings. Educate yourself about how to empower your child or loved one to develop independence and self-advocacy skills. Connect with other parents, families, and caregivers and become a part of the community to share resources and be proactive.
Q. Clinical trials for people with genetic eye disorders are giving new hope to people for potential treatments, but because clinical trials are so new in this area, more education needs to be done to encourage participation. Can you give your perspective on what would motivate you to participate?
A. It’s hard for me to answer this question because I have been told since the age of 12 that there would be treatment in 10 years for my eye condition — that was almost 30 years ago. I think the medical community needs to take greater responsibility around how and what information is communicated about clinical trials being conducted at their institutions. We live in a time now where information is dispersed rapidly and often inaccurately which often leads to false hope and distrust of the medical community among the patient population. I’ve been evaluated for clinical trials in the past and I have either had too much vision or too little vision. At this time, I can’t say what would motivate me to participate in a clinical trial except reliable, consistent, and thorough evidence and documentation of previous stages.
Q. As someone living with Usher type III, you’ve built a life where you can thrive. What would be your advice to other low vision or blind people in overcoming barriers and living their best life and what is the most extreme/toughest event you have participated in?
A. I live my life by focusing on the things I can do and not the things that I can’t. When I experience more vision loss, I allow myself to feel it, to mourn it, and then I move on. There is nothing that motivates me more than someone telling me I can’t or shouldn’t do something. Living with low vision or blindness means you have to be creative and think outside-the-box — life is WAY more interesting and fun this way. I love to participate in physically challenging activities because while I can’t control the fact that I am going blind or that I’m now completely deaf without my cochlear implants, I can take care of and strengthen the rest of my body. Climbing and summiting Mt Kilimanjaro was not easy but I think swimming from Alcatraz to shore in open water may have been harder.
Featured in program:
Rebecca will deliver the keynote speech Living with Usher Syndrome on Friday, 13:15 – 14:00 in the Paris room.
Also, she will be in the Interactive Panel: Demystifying Clinical Trials on Friday, 15:00 – 15:30 in the Paris room.Skip back to main navigation