Stories about: Genetics

Chronic and complex: A family embraces their messy, beautiful life

Lisa Burgess with (clockwise from the top) her husband Mark and sons Ben, Jamie and Dakota. “We always do selfies,” Lisa says. “I make them.”

Dakota Burgess readies to take his place on stage at Ryles Jazz Club alongside his band mates. He paces, grips his saxophone, flips his shaggy blonde hair and paces some more. Twenty-year old Dakota is autistic, as are the other members of the band from Boston Higashi School, a day and residential program for children with Autism Spectrum Disorder where Dakota has been a student for 15 years.

Dakota’s parents, his brother Jamie and a handful of friends are all in the audience, cameras and smiles ready. The show is almost starting. His mom, Lisa Burgess, leans over to a friend. “Just wait, they’re really quite good.”

The music starts. The band is good. Great, even. Dakota is nervous but focused and happy. He stays in tune and handles the spotlight like a pro during solos. At the end of the set, he bows and heads off stage.

Watching him high-five with friends, you’d never guess that Dakota was a defiant toddler. Or that he was a fearful 5-year-old. Or that his parents felt they were losing him to frustration and rage before finding Higashi. Or that he has received care at Boston Children’s Hospital for most of his life.

Dakota still struggles with anxiety but has thrived both academically and socially at Higashi and is learning life skills that will help him become more independent. The school’s jazz program and collaboration with Milton Academy has been a huge bonus.

“He keyed into music very early on,” Lisa says. “It’s really what saved him.”


Dakota playing saxophone with the Boston Higashi School jazz band on April 30, 2015.

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Can a blood test diagnose autism?

New research from Boston Children’s Hospital shows it may be possible to identify children at risk for autism spectrum disorders (ASDs) through a blood test, making screening faster, easier and less expensive than many ASD tests available at the moment.

Currently, ASDs are usually diagnosed through careful assessment of a child’s behavior. For the most part that’s an accurate diagnostic technique, but its main drawback is how long it takes. An accurate behavioral assessment can only take place at an age when most children have developed a long list of language, communication and other social and interpersonal skills. Many times these clues can be subtle, and since these skills take time to emerge naturally, most children in the U.S. aren’t fully diagnosed with an ASD until they are at least 5 years old.

But a blood test that could identify an ASD genetically could be given to children much earlier in life, allowing for earlier diagnoses and interventions, possibly even before symptoms develop.

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Hope for children with a rare “aging” disease

Megan Nighbor

Megan Nighbor is one of about 100 children in the world known to have progeria, a genetic disorder that’s caused her to show signs of old age. Children die from this rare disease at an average age of 13 from a heart attack or stroke, and there’s been no treatment.

But in 2007, Megan and 27 other children with progeria from around the world were flown to Boston Children’s Hospital at the expense of the Progeria Research Foundation to enter a first-ever clinical trial. They each received a drug called lonafarnib, under the supervision of principal investigator Mark Kieran, MD, PhD, Director of Pediatric Medical Neuro-Oncology at the Dana-Farber/Children’s Hospital Cancer Center.

The results, just announced yesterday, are exciting. While we don’t yet know the drug’s effect on life expectancy, all the children had some of their aging symptoms reversed: 1 in 3 had a marked improvement in weight gain—or stopped losing weight and started gaining. More than a third had less blood vessel stiffness, a risk factor for strokes and heart attacks. And many had improved bone density and flexibility and better hearing.

The work continues: A second trial, adding two more drugs, is nearly complete, and a third is already planned.

“We want them to be living until they’re 80, having families and dying of true old age,” says Leslie Gordon, MD, PhD, Clinical Trial Co-Chair with the Progeria Research Foundation.

For more information on this exciting breakthrough, read in our sister blog, Vector, about how the original genetic discovery led to a successful clinical trial in just a decade—and what lessons the progeria story may offer about aging in all of us.

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New Children's study may lead to earlier detection of autism risk

Can studying brain patterns lead to earlier identification of autism?

An early detection of autism is key because it gives clinicians and parents ample time to formulate a treatment plan. But unfortunately autism is difficult to identify in infants and young children because many of its symptoms aren’t noticeable until the child is walking, talking and regularly interacting with his environment.

But work by Children’s Hospital Boston researchers suggests that a noninvasive test to evaluate an infant’s autism risk could one day be available for children under a year of age.

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