Mason (copy)

Ressie Jeffries Elementary School student Mason Langlais came home Monday from Children’s Hospital of Philadelphia, where he received a liver transplant.

A local 9-year-old is getting another chance at life following a successful liver transplant at Children’s Hospital of Philadelphia.

Mason Langlais, a second grader at Ressie Jeffries Elementary School in Front Royal, was diagnosed with dyskeratosis congenita, an incredibly rare genetic disease that affects about one in a million people and causes bone marrow failure. Mason came home Monday and is doing well recovering from his Oct. 30 procedure.

“[It’s] a huge relief, of course, with what he has,” said his mother, Jennifer Langlais. “We’re never out of the woods with that.”

Mason’s new liver was his second transplant, his mother said. In 2017, he had a bone-marrow transplant.

“So we’ve had two second chances at life,” she said.

“We’re buying more time with these organ transplants,” she explained.

“He has big plans for his future. I hope that he can experience some of those things.”

Mason is the eighth dyskeratosis congenita patient to undergo a liver transplant and only the second among pediatric patients, his mother said.

Although few doctors have seen such patients, Mason was fortunate that Inova Fairfax’s Dr. Marshall Schorin, who specializes in pediatric hematology/oncology, recognized the early symptoms.

“Luckily, our doctor had seen this in one other patient in his career,” Langlais said.

Most people with the illness go undiagnosed for a while, she said, but Mason was diagnosed in three months.

Mason was born with the disease and diagnosed when he was 3, his mother recalled.

He had dystrophic nails, pale skin and bruising, she said. Through a blood test, they found he had aplastic anemia, which happens when the body isn’t producing enough new blood cells.

After undergoing gene panel testing to find out what was causing the aplastic anemia, they found he had a mutation in the TINF2 gene. This results in shortened telomeres, which are the protective ends of chromosomes.

Telomeres shorten as you age, Langlais explained. But because of her son’s condition, she said his telomeres had shortened so much that he basically had the body of an elderly man.

With shortened telomeres comes greater risk of organ failure and multiple cancers, she said.

“That’s essentially what’s happening here,” she said.

For a year before his bone marrow transplant, Mason underwent weekly blood transfusions “to keep him maintaining life” until the family could get him a transplant at the Stem Cell Transplant Center at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center in an attempt to fix the bone marrow failure.

Under the care of hematologist Dr. Suneet Agarwal, co-program leader for the Stem Cell Transplant Center, Mason was part of a new clinical trial to have the transplant without the usual chemotherapy or radiation because that can harm the lungs and other cells in patients who have DC. Instead, they used a reduced-intensity conditioning, his mother said.

Agarwal is also a medical advisory board member of Team Telomere, a patient advocacy group that Langlais joined to share information with people around the world who have a family member with DC.

When they learned Mason would need a new liver, Langlais said they had him on every list as of June 9. She was tested to see if she could donate a portion of her liver, but his medical team wanted him to have an appropriately sized liver that would grow with him.

In the end, Mason received a transplant from a 20-year-old whose liver also helped a second patient.

Langlais hasn’t met the donor’s family yet but said there’s a process for connecting donors’ families with the patients they save.

She also wants to still be a living donor for someone.

“I’m hoping I’ll be able to give back in that way,” she said.

With her husband, Patrick, 32, and two other children — daughters Jillian, 14, and Wynslie, 16 months — Langlais said she’s grateful to the Front Royal community that has been so supportive during their journey.

“Us being able to share our story, we weren’t given a choice with this and so you have to make the best you can,” she said. “Sharing it with people, maybe they can see how fortunate they are to have health and not have to worry about things like this with their children.”

A GoFundMe link set up by a family friend at gofundme.com/f/langlais has so far raised over $11,000 to give the family “a temporary home base while Mason receives his new liver and related treatments at CHOP.”

The family has also benefited from community support, including a fundraiser in May hosted by Ressie Jeffries that raised $12,000.

With “the support of the community that we have had,” Langlais said she wants to express “how grateful we are to see everyone come together and support us.”

“We try to do thank yous as we go,” she said.

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