Genetic testing gave Theresa Taylor the information she needed about her Leber congenital amaurosis, and inspired an advocacy trip to Capitol Hill.
Frustration. Devastation. Determination. That is the emotional roller coaster I experience daily, living with Leber congenital amaurosis (LCA). This genetic, retinal condition robbed me of most of my vision at birth. As it progresses, it is slowly taking what little sight I have left. Living with an inherited retinal disease (IRD) can undermine my confidence, and in many ways, my independence; but while going blind affects every aspect of my life and controls many of the decisions I make, I refuse to allow it to define me!
Even at a young age I understood that blindness was an inevitable reality for me, so I pushed to get as much accomplished as I could, before I lost what little sight I had. I am proud to say I have started, operated, and grown a successful business. My greatest joy in life, however, are my two amazing children. Being a good mother is my most important goal, and so I have made it a priority to succeed, to show my kids that anything is possible with hard work and devotion.
Being a single mom that is losing her vision has definite challenges. Nothing gives me more purpose and happiness than my kids, so the thought of not being able to see my son walk across the stage to get his high school diploma, or watch my daughter walk down the aisle on her wedding day brings tears to my eyes. It is this love for my children, and my thirst for knowledge, that was the driving force behind my recent decision to have genetic testing done.
In recent years, my vision loss has accelerated, only emphasizing the challenges I face. Having decided not to let LCA define my future, I decided to do what I could to fight back against the disease. I tell my children all the time that knowledge is power, so I decided to get empowered by learning more about what causes LCA. I wanted to know what was happening inside me, to cause my vision loss.
I started researching everything I could about the disease. What I read about LCA—the ultimate prognosis and current lack of treatment—initially deepened my sense of hopelessness. I pushed on, however, determined not to lose hope. I began reading about the field of gene therapy research and soon realized that my best option was to have genetic testing done.
Genetic testing is fairly new and can be pricey. Frankly, I wasn’t quite sure how to go about getting the right type of testing done. Happily, I found the ID YOUR IRD* website during my research. The site not only provides information about how gene testing works, it offers free genetic testing to eligible participants, subject to the terms and conditions of the initiative. The site was informative and easy to use, so I filled out the request form and hoped for the best. I was surprised to get a call the next day from a patient liaison, who explained the program to me. My physician confirmed my eligibility and ordered the test. The entire process was complete in under eight weeks!
I now know which of my genes is affected, as well as the exact mutations within that gene. Having this information is helping me follow the research. The most important part of the ID YOUR IRD program—for me—was that my children could be tested. With the help of our physician, a simple saliva test quelled my worst fears: my two children did not inherit my LCA genetic mutation. The relief I felt at receiving that news was priceless.
I am determined not to stand by and let blindness take over my life. I believe the field of gene therapy research is very promising, and gives all of us with genetic vision loss long-needed hope. That’s why I said, “Yes,” when I was asked to travel to Washington, D.C. in 2016, and represent patients who would benefit from the 21st Century Cures Act, a bill before congress that would authorize billions of dollars to boost funding for medical research. I was also honored to sit down and discuss the 21st Century Cures Act with House Speaker Paul Ryan. His genuine care and concern moved me. Congress signed the bill into law on December 13, 2016—a huge step forward for medical research.
I’ve learned a key lesson through this process. Knowledge is power, which is why I will continue seeking the latest information about IRDs and keep a keen eye on the gene therapy research that is changing the way science views this inherited condition.
*The ID Your IRD gene testing initiative is no longer offered at this time.