Sisters 4 Sight: My Family’s Journey Through Gene Replacement Therapy

The day my family received the news my niece, Sophia, was diagnosed with Leber’s Congenital Amaurosis (LCA), a mutation to the RPE65 gene, as well as SPATA5, it was quite a shock and raised many questions within my family. We learned these conditions cause developmental and health issues. Once Sophia was diagnosed, we pushed for the doctors to look more closely at my oldest niece Ava, who was having visual abnormalities as well. If it had not been for Sophia’s early diagnoses we might not have had the opportunity and knowledge for early intervention with Ava.

From an early age, we noticed that Ava had some vision difficulties; she was drawn to bright lights and did not make eye contact. She presented with a lazy eye that my family attempted to correct with eye muscle surgery when she was 2. Ava had a pattern of running into doors, tripping over objects on the floor, and using her hands to guide her when the lighting was poor. We attributed many of her actions to double vision. When my sister and brother in-law completed the genetic testing for Ava, our families worst fears were confirmed. Ava and Sophia both had Leber’s Congenital Amaurosis. After the apparent shock wore off, my family started to do research. My sister and brother-in-law were referred to Dr. Drake and Dr. Russell at the University of Iowa. At their first appointment, they were notified of the research trials being conducted specifically targeting the RPE65 gene mutation and that the FDA was close to approving gene replacement therapy.

After some further testing, they determined that Ava would be a perfect match for the surgery. Due to Sophia’s other health issues, the surgery would not be suited for her at this time. Gene replacement therapy was a very new term to us, and the exact process of completing the therapy was unclear. After watching presentations, reading, and consulting with doctors, the gene replacement therapy surgery sounded outstanding.

In layman’s terms, the doctors take cells with the correct mutation for the effected gene, place it into a virus, and then inject it behind the retina. Through the power of science the corrected genes replace the defective mutations, therefore, restoring some vision. Our hope is that this surgery will also stop the degenerative process.

The FDA approved the treatment in January 2018. My family was now one step closer to our goal of giving Ava the chance to see clearer and potentially retain her sight. Before my family knew it, they were headed back to Iowa for the first eye surgery (June 28, 2018) and then the second, a week later (July 5, 2018). The emotions that we experienced throughout those days can never be explained on paper or through words.

After the surgery there were some adjustments, but within the first week after treatment everyone could see the improvements! Those improvements were confirmed by the test results at the hospital. Ava is now able to see clearer and in more detail! Her vision at night has improved and her peripheral vision has changed by leaps and bounds. Is this a cure? Is this going to continue to improve her vision? We are not sure. What we are sure about is that without the organizations, researchers, genetic testing, friends, family, hospitals, and therapy services my niece would not have been able to get her vision back or be where she is today.

There is one story that sums up how much progress Ava has made since treatment. My sister and brother in-law were sitting at the dinner table and Ava said “There are spider webs all over my arms and legs!” With a confused look my sister stated, “Ava there are no spider webs on you.”. Ava was referring to the hair on her arms and legs. It was the first time that she had ever noticed them.

If there is one thing to be gained from my family’s story, it is the understanding that there is hope. We now have the opportunity to let Ava experience life not only by touch, sound, smell, and taste but also by giving her the opportunity through sight.

If you would like to hear more about my family’s story and stay up to date on Ava and Sophia’s journey, you can follow our Facebook Page: “Searching 4 Sight Ava & Sophia’s Journey”! 

Coastal Connection blog post contributor, Marissa Gratza MS, CCC-SLP

Marissa graduated from the University of Central Missouri with a Bachelor’s and Master’s Degree in Communication Disorders. Marissa has gained experience in a variety of settings including acute care, school and clinical settings.

Due to a family member being diagnosed with a genetic disorder as well as, hearing and visually impaired, Marissa has a great passion for working with augmentative and alternative communication devices.

Marissa also holds a strong interest in developmental delays, literacy disorders, receptive and expressive language disorders, voice disorders and swallowing difficulties. Marissa completed her clinical fellowship year in both a behavioral and private clinic, working with children (4 years-18 years) presenting with language, speech, and feeding disorders. Marissa strives to provide individualized treatment plans to increase success for her clients. When not at work, Marissa enjoys spending time with her family, running and going to the beach.

Related Tag: Coastal pediatrics