Rare genetic mutation sends family on an unexpected journey

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Luke Heller proudly shows a drawing to his speech therapist, Jessica Brown. / Photos by Shelley A. Sackett

 

By Shelley A. Sackett

SWAMPSCOTT—Jody and Noah Heller brought their newborn son, Luke, home to Swampscott in December 2013. Although he was a “sweet baby with an infectious laugh,” by nine months they noticed he was not hitting the same developmental milestones his older sister Lucy had by that age.

 

The Hellers knew something was off. Luke wasn’t able to sit up independently or crawl and never tried to put anything to his mouth. “If you picked him up, his body felt a little floppy,” Jody said.

 

Their pediatrician said Luke had low muscle tone and recommended an early intervention program. He also sent them to a neurologist. “Kids his age usually put everything in their mouths,” Jody said. “He was concerned.”

 

Luke began receiving physical, occupational and developmental services at Aspire Early Intervention in Lynn, but as he got older there were more delays.

 

He didn’t crawl until he was18 months and didn’t walk until he was 2. No one really knew what was wrong. His diagnosis was the umbrella term “globally delayed.”

 

Later, Luke was diagnosed with apraxia of speech, a condition where the brain has difficulty sending signals to the mouth to create speech. Luke knew what he wanted to say, but he didn’t know how to form the words to say it.

 

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Luke, Noah and Jody Heller at their Swampscott home.

 

The Hellers were determined to dig deeper, and visited the Genetics Department at Boston Children’s Hospital. Genetic tests in 2015, when Luke was 18 months old, were inconclusive, but the doctors urged them to keep trying. “They said, ‘we’re learning so much about genetics every day,’ and recommended we come back in two years,” Jody said.

 

When Luke turned 3 and aged out of Aspire, the Hellers enrolled him at Northeast Arc, a not-for-profit organization that helps children and adults with disabilities. It was perfect timing, because Luke would often get frustrated at not being able to express himself, which was causing behavior issues.

 

Through Northeast Arc, behavioral and speech therapists work with Luke at his home. Jessica Brown, his speech and language pathologist, also goes to Luke’s Chabad pre-school with him, where she helps him use a special iPad speech device that gives Luke a voice he otherwise doesn’t have, enabling him to “talk” to his classmates.

 

“Northeast Arc allows us to communicate with our son. He has made so much progress,” Noah said.

 

Still, the Hellers wanted to do more than just treat Luke’s symptoms—they wanted to know what was causing all these delays. Last July, they returned to Boston Children’s Hospital, ready for Luke to take a genetic sequencing test that identifies every protein-coding gene in the body.

 

This time, just before Luke turned 4 years old, they received definitive information. “The geneticists told us that he had a mutation on the TECPR2 gene, but that there wasn’t a lot of information on the disease. It was extremely rare,” Noah said. Only eight children in the world had the same mutation, most of them living in Israel, where the mutation was first discovered in 2012 by an Israeli neurologist.

 

Both Jody and Noah, who are of Ashkenazi descent, tested negative for the Ashkenazi Panel screening test, which assesses the risk of having a child with any of 11 disorders, including Tay-Sachs disease. TECPR2 is not on the panel, but can be prenatally tested by request.

 

The Hellers asked for the Israeli doctor’s name and contacted her immediately. “That started a whole new journey for us,” Jody said.

 

The Hellers hope to get the TECPR2 mutation added to the Ashkenazi Panel in the near future. Jody started a Facebook page for TECPR2 families, and several families are now following the page and sharing stories.

 

“There are definitely others with this genetic syndrome out there, but they have been misdiagnosed as something else,” Jody said. “That’s why we’re really trying to bring awareness to this newly discovered syndrome.”

 

The Hellers and their families are also attacking the disease on the medical front. They started the Luke Heller TECPR2 Foundation, a privately funded entity with the goal of finding a cure for Luke’s mutation. The Boston-based foundation has enlisted scientists from around the globe.

 

In the meantime, Luke continues to work hard and to charm those he encounters with a quick hug and a ready smile. “Luke is smart and determined. We are so grateful to the Northeast Arc,” Jody said.

 

Noah acknowledges that reconciling what happened to Luke has not been easy. “We have a strong, loving family that has really helped us. Jody has done a lot of work to keep our family together and everybody happy. She is the center and strength of our family,” he said.

 

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Swampscott’s Zabar to be honored by Northeast-Arc on May 3

 

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Larry Zabar is the honoree at the Northeast-Arc’s May 3 fundraising event.

 

By Shelley A. Sackett

On Thursday, May 3, the Seaport Hotel in Boston will be transformed into a local star-studded runway as the Northeast Arc hosts its signature fundraising event, “An Evening of Changing Lives.” Emceed by Kim Carrigan, longtime Northeast Arc advocate and host of “The Boston Morning Show” on WRKO-AM, the evening also honors Larry Zabar of Swampscott, Executive Vice President for The New England Council and longtime Northeast Arc supporter.

 

“We are honoring Larry to shine a spotlight on all the remarkable work he has done throughout New England, especially in creating opportunities for people with disabilities,” said Jo Ann Simons, CEO, NE-Arc. She expects over 450 people to attend the event.

 

Zabar serves as a NE-Arc board member, chair of the development committee and vice chair of the advisory board. He is also the longest serving member of The New England Council, the nation’s oldest regional business organization.

 

“Receiving this award allows me to shine a spotlight on, and hopefully raise funds to support, an organization and a group of employees who really deserve this recognition. No one works at the NE-Arc because it’s easy and no one works there to get rich. They work there because of the importance of the mission, the value of giving back, and the difference they can and do make every day in the lives of people with disabilities,” Zabar said.

 

The NE-Arc is a not-for-profit organization that helps children and adults with, or at risk for developing, disabilities become full participants in the community.

 

The evening also features a fashion show spotlighting local celebrities, dignitaries, and business leaders who will be paired with individuals whose lives are changed as a result of the community’s support of the NE-Arc’s services.

 

“This is not a typical fashion show,” Simons explained. “It’s about our mission, and the fashion show and clothes are the vehicle to demonstrate how we change lives.”

 

The show will feature 12 models that represent the entire range of NE-Arc services, including early intervention, family support, employment and residential services. These families who receive NE-Arc services will be paired with local notables, such as Boston Globe Journal Editor Doug Banks and Dan Cahill, Representative for the 10th Essex district.

 

Among those walking on the runway will be the Heller family, whose son Luke has been diagnosed with a rare genetic mutation.

 

“NE-Arc has done so much for Luke and our family. The runway event is an opportunity to say thank you and to raise money and awareness in the community, because NE-Arc is so important to many families like ours,” said Jody Heller, Luke’s mom. Luke started with NE-Arc’s specialty early intervention program, Building Blocks, and now receives services through its Applied Behavioral Analysis program.

 

“The Arc has been life-changing for us,” Heller said.

 

“The Hellers are a remarkable extended family who represent part of the village that it takes to raise a child who has additional needs,” Simons said.

 

Shirley Leung of the Boston Globe, who served as a judge for last fall’s ArcTank competition, will model with her 5-year-old son. who has autism.

 

“Each pair has a story that is inspiring and helps represent the 10,000 lives we change every day,” Simons said.

 

Honoree Zabar humbly added, “This award is not about me. So many businesses in the New England Council support organizations like NE-Arc. The common thread is we all see value in what they and other groups do to make lives better.”

 

For more information or to buy tickets, visit https://ne-arc.ejoinme.org/MyEvents/AnEveningofChangingLives2018/tabid/940603/Default.aspx or contact Paula Vrattos at (978) 624-3080 or pvrattos@ne-arc.org.