Hamlett receives first MLD treatment in U.S

By Luke Brantley
Staff writer

WINFIELD — Celia Grace Hamlett was only two years old in February of 2020 when she was taken to the emergency room for severe abdominal pain.
Hospital staff performed a CAT scan, and something was detected in her gallbladder. Thinking it was probably just gallstones, hospital staff transferred her to Children’s of Alabama, where an ultrasound was performed.
Once again, doctors thought it was gallstones. Celia had her gallbladder removed the next morning, but when doctors examined it, it appeared normal—all except for the 5cm mass inside of it.
The mass was sent for testing, and Celia’s parents, Gary and Kassie, waited on the results for two weeks. Finally, they called to check on the results and were told they needed to meet with doctors in Birmingham the following morning.
The test results had come back, and the situation was serious. The mass that had been removed from Celia’s gallbladder was associated with a rare disease known as Metachromatic Leukodystrophy (MLD).
Issues with the gallbladder are one of a few possible signs of MLD, a disease caused by a missing enzyme in the body’s cells that causes severe damage to the brain and nervous system.
Gary Hamlett said he and his wife started to research the disease and what they could do about it. Things didn’t look great at first. MLD causes children to lose the abilities to move and speak and is fatal if untreated.
The treatments that did exist, such as bone marrow transplants, are risky procedures.
“We did what typical parents would do: we Googled MLD,” he said. “It showed that with her age and everything, most of the time the child doesn’t live past five years of age.
“There was no cure, only a trial study that was done in Milan, Italy. We were planning on going to Milan and getting the treatment. My wife and daughter would have had to live there for six months.
“About a month later, our neurologist called us and said, ‘What would you do if I told you your daughter was going to make the history books?’”
The neurologist informed them Celia would be the first child in the U.S. to receive the gene therapy treatment, which she would receive at the Masonic Children’s Hospital in Minneapolis, Minn., where neurologist Dr. Paul Orchard would lead the team performing the treatment.
The treatment was permitted by the FDA as a “compassionate use study,” with guidelines set in place by the FDA for how the treatment would proceed.
The process began in December of 2020 with a series of preliminary tests to make sure Celia could proceed with the treatment.
In July of 2021, Celia traveled to Minneapolis to have some stem cells extracted so they could be sent off to Milan to be modified for the treatment and then sent back.
She went back in September of that year to begin the treatment. Gary Hamlett said there was a brief struggle with their insurance company to cover the cost of the treatment and the lengthy hospital stay.
But he said after a news article was published about Celia’s treatment, Blue Cross and Blue Shield of Alabama met with them and agreed they would fully approve the procedure and fully cover everything.
The treatment involved receiving the new modified genes combined with four days of chemotherapy and a 30-day hospital stay for observation.
“They kept her in the hospital to monitor her for 30 days because her immune system was zero. They had to knock it completely out,” Gary said.
Gary said that Celia, who is now 7, has reported back for annual checkups and is not only doing well, but is ahead of her growth level.
Gary said the journey through his daughter’s diagnosis and treatment was a wild ride.
“It was a roller coaster,” he said. “Initially, we were numb, because we didn’t know if we were going to be able to go to Italy to get the treatment. The only thing we could have done was a bone marrow transplant, and they say that would have accelerated the disease. We read on the internet about the disease and how more than likely by the age of five she would be gone…