Diagnosis to Treatment: Pioneering LCA Patient Eases the Journey
As a global advocacy organization dedicated to helping those affected by blindness caused by rare inherited retinal disease, Sofia Sees Hope connects families with Leber congenital amaurosis (LCA) and other IRDs through its Family Connections program and through events such as its second LCA Family Conference set for July 26-28 in Philadelphia.
The conference offers opportunities to engage in thoughtful and interactive exchanges of knowledge, ideas and viewpoints in sessions focusing on research, future treatments, advocacy and people sharing their stories.
Pioneering LCA patient Tami Morehouse attended the patient advocacy session of the first LCA Family Conference last October in Groton, CT, and participated as a panelist in a session titled: “The Road to Treatment: Understanding How Therapies Are Developed.”
She made research history in the LCA world and in the nation in 2009, when at age 44 during trials for genetic therapy medication, doctors injected under her retinas a human-engineered virus that restored an essential protein for vision. Spark Therapeutics developed the drug that was marketed as LUXTURNA™ following U.S. Food & Drug Administration approval in December 2017.
Tami lives in the Cleveland area and is among the LCA patients who have shared their stories to help others navigate the obstacles that accompany the diagnosis of a rare disease and the journey in finding a treatment.
We’ll share the words she shared with two families – the mom of a boy who received the new genetic therapy treatment, and a mom, and her little boy, who asked a lot of questions about the surgery.
Making Family Connections
Tami holds a special place in the heart Sarah St. Pierre Schroeder, whose then-9-year-old son, Creed, became the youngest person to receive the new genetic therapy for LCA with a mutation in his RPE65 gene. (See our series of stories about Creed, his spring 2018 surgery and his journey.)
Because Tami is the oldest person who successfully received the experimental treatment in both eyes in a clinical drug trial a decade ago, she possesses invaluable insight into the unknowns faced by Sarah and her third grader, who live in Mount Dora, Fla.
Sarah said she is forever grateful for Tami talking with her.
“I will never forget the emotions I felt when Tami reached out to me. Every sentence in her email brought me more comfort about what I was doing for Creed,” Sarah said.
“She was so open about her journey, I felt like we had known each other forever. I felt like she was with us in Miami (where Creed underwent surgery at Bascom Palmer Eye Institute).
“Suddenly I was able to ask someone all the questions I had and get answers. Not just ‘maybe this will happen.’ ”
Here’s some of what Tami shared with us about talking with Sarah:
I’ve had some great conversations with those who have either been involved in the process of treatment of LCA or are hopeful they might be involved in a clinical trial in the future. I’m sure you aren’t surprised when I say that emotions usually run pretty high during these conversations.
Sarah was the first parent I talked with. I kept thinking about her and Creed in the days prior to Creed’s procedure. I remembered how I felt when I was in their shoes and couldn’t help but reach out to them on the night before Creed’s procedure. As it turned out, Sarah seemed very open and happy to talk with someone who had been there and understood a little about all that they were feeling and wondering about.
Sarah and I had lots of communication that night and the day of his procedure, which seemed like it would never get here, and in the days following.
Hearing about the improvements in Creed’s vision and how it has changed his life has been so much fun. Thinking about it is still a bit overwhelming sometimes, but wonderful. I’m so glad for him.
It’s nice to check in with Sarah from time to time to talk about the progress and adjustments they are making. I hope they enjoy our interactions as much as I do.
Here is some of what Tami had to share after talking with a mom considering gene therapy for her son. (Tami spoke to the woman and her son as a confidant and did not want to disclose their names.)
The mom asked that I talk with her little one specifically about what the procedure was like. She wanted him to talk with someone who had actually gone through it. We had a great conversation.
I talked to him about things like, the fact that my surgery wasn’t painful for me but did feel a little funny afterward; that I did have to have lots of eye drops; that my surgery didn’t even take very long; that the doctors and nurses were really nice; that my family could be with me after the surgery when I needed them; and that I was pretty comfortable through the whole thing.
I told him that the best part is that I can see a little better than I could before I had the surgery.
At the beginning of the conversation, the little guy seemed pretty quiet and uncomfortable. As the conversation went on, he appeared more relaxed and seemed to be listening pretty intently. His first question was, “WOW, you mean you had surgery already? WOW!”
He also asked if I thought he would be able to get used to all the eye drops and if it would be a long time before he could play video games after his surgery. I told him that I wasn’t sure of how long he would have to wait to play games, but that if he was patient, his reward might be some really good pizza and chocolate chip cookies, which is what I got to eat after my surgery was over. I got a big giggle out of him then. He said that he is pretty happy that he might get the surgery.
If one thing I said to this child makes his surgery easier for him, I’ll be so happy. I just hope it happens for him as they anticipate.
Mom and I talked about the reasons why she feels good about the safety of the (clinical) trial. That’s always a huge issue with just about everyone that I’ve talked to prior to receiving treatment or participating in any trial. Safety always comes first. Understanding why a procedure is determined to be safe is very important.
We also talked about the importance of being aware of what kinds of results treatment might provide for her son, as well as what she and her son are expecting or hoping for from a particular treatment. There were a couple of participants in the trial with me that seemed to have really high expectations that just weren’t possible. Luckily, it seems like this little guy and his mom are in a good place when it comes to their expectations.
Anytime I talk with people seeking any treatment for any rare inherited retinal disease, I strongly encourage them to do their best to understand as much as possible about the procedure, care and services that they are considering or receiving. This can be made easier by reading everything available about the treatment they are pursuing. Unfortunately, sometimes reading and understanding some of this printed information are two different things.
The more that is known about the treatment ahead of time, the easier it is to understand what is going on when making decisions prior to and during treatment.
Asking questions and expressing any concerns that come up is also very important when making decisions about accepting or going through treatment. Taking any available opportunity to develop relationships and open lines of communication with any medical and/or clinical staff is very important. Doing this can make it much easier for patients, as well as physicians, to openly ask questions and express concerns. This can make all the difference in the world when it comes to getting the answers and information needed.
Another thing to consider for individuals who do receive treatment and experience restored vision, is how improved vision may affect their lives.
For some, this is a wonderful thing. For others, this can be a bit of a challenge.
Thank you, Tami.