Living With LCA: Maverick Johnston
A revolutionary genetic treatment could improve the vision of 5-year-old Maverick Johnston, but his mom first wants to know more about the side effects and capabilities of the breakthrough drug called LUXTURNA™, developed by Spark Therapeutics.
Maverick, a kindergartener from Paso Robles, Calif., lives with Leber congenital amaurosis LCA RPE65 and enjoys a great quality of life, said his mom, 35-year-old Laurel Singletary-Johnston.
Laurel worries about LUXTURNA’s™ possible adverse effects, specifically citing any potential cataract development. She will continue to have doctors scan and check Maverick’s vision every six months, but she wants to review information about the drug’s longer-term effects before going forward with the treatment.
“Emotionally and mentally,” she said, “it’s going to have to be my decision. What if we give him this window of what he can potentially see, and then what?…
“In the grand scheme of things, he’s really healthy and that’s really important to me. His quality of life is so amazing, and we really don’t have a lot to complain about,” she said. “It’s scary to go through a procedure that’s so new.”
While she has reservations about LUXTURNA™, Laurel connected with Dr. Aaron Nagiel of Children’s Hospital Los Angeles on Feb. 28 – National Rare Disease Day. She and Maverick consulted with Dr. Nagiel to be on track to potentially receive the gene therapy treatment after evaluating the three-year results of the drug’s clinical trials.
Patients in Spark’s Phase 3 clinical trials are being followed from the time of their initial treatment to 15 years out to determine the efficacy, durability and safety of LUXTURNA™.
Monique da Silva, head of Corporate Communications for Spark Therapeutics, said the data have been presented at multiple medical meetings since November 2017 and that the three-year-safety data were submitted to the Food and Drug Administration in the fall of 2017.
In December 2017, the FDA approved LUXTURNA™ and doctors performed their first surgeries during the week of March 19, including that of 9-year-old Creed Pettit of Mount Dora, Fla., at Miami’s Bascom Palmer Eye Institute. Treatment with LUXTURNA™ entails injecting a human-engineered virus containing copies of a normal gene so that the cells can express a protein the retina needs to convert light into vision-enabling signals sent to the brain.
In California, Maverick is blossoming in kindergarten, and while he rides his bike and can hit a ball off a tee, he’s found his perfect sport: Swimming – spring, summer and fall, two days a week.
“He loves his Speedo,” his mom said. “He is such a good swimmer and there’s a big black line at the bottom that he can follow.”
Laurel and her husband, Jason, a 36-year-old Army retiree working with the National Guard, do not let their son use his level of vision as an excuse not to do something. Maverick uses a headlamp to find toys that fall under the table, flashlights are all over the house, and his home is filled with bright lights.
She feels the family doesn’t have to make a rash decision.
“I don’t feel bad about my decision. You have to trust your mom-gut. Right now, I just feel this is the right decision for my family.”
A rough road to LCA diagnosis
Getting to this point for Maverick, his mom, his dad, and little sister, 3-year-old Dagny, has been more than a rough road.
Laurel had an otherwise uneventful pregnancy with Maverick, but during delivery experienced extreme difficulty. She said it was strange, because they checked out of the hospital fine, but Maverick had a very wide-eyed, blank stare and would not let anyone hold him except her.
His first pediatrician diagnosed Maverick as autistic at 2 months old.
“She told me he had autism and I’m not a doctor, but I knew that was crazy.”
The next doctor told her to get Maverick’s eyes checked. She took him to a well-known ophthalmologist where Maverick did well tracking a toy, until Laurel mentioned that he could track it because it jingled, not because he could see it.
When her son was about 4 months old, she was told: “There’s really nothing we can do but follow his progress to see if anything improves.”
The day before his third birthday, Maverick was diagnosed with nystagmus, or involuntary eye movement, which Laurel also had noticed.
Then the doctor told her that Maverick had a brain tumor, despite already having had an MRI for a sacral dimple.
“Brain tumor?! … I was literally losing my mind,” she said.
A second MRI showed no brain tumor.
In between all of this, she said, “It was every optical diagnosis you could imagine, detached optical nerves, visual maturation delay and 50 other eye diagnoses they tried to give us.”
Maverick at 3 years old saw Dr. Mark Borchert of Children’s Hospital Los Angeles and he recommended an electroretinogram (ERG), which produced the doctor’s suspected diagnosis: LCA, a rare inherited retinal disease (IRD).
Maverick then received a genetic diagnosis of LCA RPE65, but only after his parents paid $3,000 for the test. A neurologist later wrote on Laurel’s behalf to a community non-profit organization in nearby San Luis Obispo called Jack’s Helping Hand, which reimbursed most of the cost.
Being a self-advocate
Even early interventionists had few answers and a visual therapist didn’t seem to challenge Maverick to move him along.
Laurel asked what she could do and was told: “Wait until he gets into school and see how much he struggles.”
“It felt like, in a way, we were brushed under the rug. I had to beg for him to have a cane. I had to beg to have someone show him how to use a cane.”
“He’s 65 pounds right now and I still carry him” in crowds because he can’t navigate through movement around him.
“People think he’s playing chicken with them and think he’s a disrespectful little kid when in reality he is so kind and has the best heart. The lack of patience, understanding and compassion among the general public is sad. We’re just trying to enjoy our lives like everyone else.”
Finally, about a year ago, a supervisor of the home-visiting visual therapist intervened and determined Maverick should have begun therapy when he was 2. He received more intensive attention before starting in kindergarten last fall and now receives in-school therapy twice a week.
Through all of this, Maverick has played and learned like other kids.
Then came December 19, 2017, the day the FDA approved LUXTURNA™, the ground-breaking genetic therapy treatment for people with a mutation of their RPE65 gene. It is also the first drug in the United States to treat an inherited disease.
“I never posted one single thing on my Facebook page (about Maverick’s LCA) until that day because I never wanted someone to feel sorry. On that day I posted it because I had something positive to share.”
She didn’t want to hear, “ ‘Oh, my God, I don’t know how you do it.’ My answer is yes you can, you do not have a choice. I was really meant in my heart to be Maverick’s mom; I don’t ever put him in a situation where he can fail. I put him in situations where he can succeed.
“I really hate the judgment and I hate all the things that he has to go through. I wish he could drive and have 100 percent independence like every other kid, but I really believe he’s going to have a happy, fulfilled and successful life.”
Laurel’s advice to other parents of children with LCA is persistence.
“You have to be their advocate. You are the Number One person to advocate for them until you can have peace with what’s happening. Without hope, you have nothing.”
And what has helped Laurel hang on to hope while navigating the maze of doctors and diagnoses, opinions and judgments? One little quote:
“The key to success is playing the hand you were dealt like it was the hand you wanted.”