Archive for adrenoleukodystrophy
Making history: Gene therapy for CCALD gives Conner a second chance
Like a lot of 6-year-olds, Conner Hess finds joy in simple acts: drawing pictures, cuddling his two cats, and playing video games with his father. When his fun times at home in New York are interrupted by trips to Boston Children’s Hospital, he knows it’s to help fix a “boo-boo” in his brain. What he ... Read More
Matthew, the ‘wee marvel’: One of the first ALD gene therapy recipients
When the Elliott brothers are asked how many siblings they have, they always say, “four.” It’s a way of honoring the memory of their eldest brother, Marc, who died in 2010 from adrenoleukodystrophy (ALD). ALD is a degenerative condition that destroys the protective sheath surrounding the brain’s neurons. Gradually, as the disease progresses, symptoms grow ... Read More
The space between heartache and happiness: Two sons with adrenoleukodystrophy
When Paul and Liliana Rojas talk about their life, they describe it in one of two ways — the way it was before their sons, 10-year-old Brandon and 7-year-old Brian, were diagnosed with ALD, and the way it is after. Their story is one of heartbreak — but also hope, in the form of a ... Read More
Gene therapy halts progression of cerebral adrenoleukodystrophy in clinical trial
Adrenoleukodystrophy — depicted in the 1992 movie “Lorenzo’s Oil” — is a genetic disease that most severely affects boys. Caused by a defective gene on the X chromosome, it triggers a build-up of fatty acids that damage the protective myelin sheaths of the brain’s neurons, leading to cognitive and motor impairment. The most devastating form of the ... Read More
Forty years waiting for a cure: ALD gene therapy trial shows early promise
A small piece of notepaper, folded twice, sits tucked in a slot of the secretary desk in the living room. Every so often, I pull it out, read it, then reread. Addressed to my mom, the paper has a question and two boxes, one “yes” and one “no,” written with the careful precision of a ... Read More
Moving gene therapy into high gear
Gene therapy, still experimental but beginning to enter the clinic, attempts to utilize advanced molecular methods to treat and even reverse genetic diseases. The field started in earnest about 25 years ago and has had many setbacks along the way to its recent earliest successes. International collaboration has been critical. Children’s Hospital Boston is one ... Read More