SWAIN, N.Y. (WIVB) — Boston Children’s Hospital says that if left untreated, a condition faced by a boy from Allegany County could have led to “complete neurological devastation.”
But hope was found in gene therapy. In fact, the hospital says 6-year-old Conner Hess became the first person in the entire world to get a specific treatment for his condition since receiving FDA approval.
As a newborn, Conner was diagnosed with a deadly genetic condition called adrenoleukodystrophy (ALD), something his mother, Richelle Brooks, found out she has herself.
“We thought we were just handed a death sentence for our son,” Brooks said of Conner’s heartbreaking diagnosis as a baby.
Most moms don’t find out they have it themselves until their child is diagnosed, Brooks says.
Since his newborn diagnosis, Conner underwent several MRI procedures of his brain to find out if he had a cerebral form of the disorder, Boston Children’s Hospital says.
Eventually, a lesion was found on his brain, confirming this past September that this was indeed the case. But the timing of everything was, in one way, fortunate.
Days after Conner’s diagnosis, the U.S. Food and Drug Administration (FDA) approved a gene therapy called Skysona. It was especially positive news for Conner, who, unfortunately, was not able to find a good bone marrow match for a stem cell transplant.
Skysona was provided to Conner through an infusion, which he traveled from Swain, New York to Boston Children’s Hospital to receive.
Dr. Christine Duncan, a pediatric hematologist oncologist, was a central part of the entire process. A holder of numerous prestigious titles, Dr. Duncan is the Senior Physician of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, the Medical Director of Clinical Research and Clinical Development of Boston Children’s Hospital’s Gene Therapy Program and an associate professor of pediatrics at Harvard Medical School.
“Our goal is to have every child who has a mutation in the gene that causes ALD get identified before they have symptoms,” Dr. Duncan says.
Conner has had to have an MRI every six months since he was screened via heel stick at birth. Not every state screens newborns for ALD, but New York was the first to start.
Dr. Duncan first met with Conner’s family in the month of his cerebral adrenoleukodystrophy (CALD) diagnosis to discuss the road ahead.
“Ultimately, what we expect is this is going to stop his ALD from progressing, for Conner to be the same kind of silly, fabulous boy he is now forever,” Dr. Duncan said.
ALD itself is rare, and primarily found in boys. Dr. Duncan says it’s identified in 1 of every 40,000 United States births, or about 200 newborns per year. Even rarer is Conner’s version of the condition, which 35 to 40 percent of babies go on to develop after getting diagnosed with ALD.
Symptoms don’t always present themselves, but in the case of cerebral ALD, children can see progressive deterioration between the ages of 4 and 10. This can result in children becoming wheelchair-bound and unable to communicate with family.
Other symptoms may include changes in vision or behavior, with some children getting diagnosed with ADHD.
ALD can be seen in adults, too. It doesn’t happen as often, but can show itself in the form of changes in walking ability or bladder or bowel function. It is treatable, and bone marrow transplants or gene therapy are the only ways to stop it, Dr. Duncan says.
Brooks says the original plan was to have Conner undergo a transplant locally at Strong Memorial Hospital in Rochester, but the medical staff there didn’t feel confident in their ability to treat the boy. This was before finding out Conner didn’t have a good match.
Other options included traveling further out, possibly to Minnesota or North Carolina.
In studies and clinical trials, more than 60 children, dating back to 2013, underwent the Skysona gene therapy treatment.
Gene therapy itself is relatively new in the field of medicine, Dr. Duncan said, who noted that Conner will undergo supervision for the next 15 years. Doctors will monitor him for side effects and other changes.
In preparation for the infusion Conner received on March 16, medical staff had to collect stem cells from him. Dr. Duncan says this was a multi-step process similar to dialysis.
“Stem cells are the baby cells that live inside our bone marrow…That bone marrow makes your blood cells,” she said.
Conner’s treatment included a single round of chemotherapy, too.
“ALD is not cancer,” Dr. Duncan said. “We wish there was a better way to do it. But the best way we know to make space inside your bone marrow is with chemotherapy.”
Conner was discharged from the hospital this past Sunday, but will need to return to Boston every four to six months. Dr. Duncan says his visits will become less frequent as time goes on.
As of now, this energetic boy who loves video games and anything blue, is doing well.
- Fort Bragg officially renamed during ceremony at military installation
- Study to share what went right, wrong in Christmas blizzard
- Piece of tire breaks off roller coaster at Ohio’s Cedar Point amusement park
- Woman pleads guilty to stealing more than $500,000 from Wegmans
- Teen charged with killing man in South Buffalo last summer
Evan Anstey is an Associated Press Award, JANY Award and Emmy-nominated digital producer who has been part of the News 4 team since 2015. See more of his work here and follow him on Twitter.