Stories about: gene therapy

The space between heartache and happiness: Two sons with adrenoleukodystrophy

Paul and Liliana Rojas with their sons, Brandon and Brian, both of whom have adrenoleukodystrophy (ALD).
The Rojas family at a recent visit to Boston Children’s.

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 new clinical trial.

Learn more about the results of the clinical trial, recently published in the New England Journal of Medicine, that halted the progression of Brian’s ALD.

ALD is short for adrenoleukodystrophy, a debilitating brain disease that simply goes by its initials.

“Life before ALD was pure happiness without worries,” Paul says. “It was anything a parent could wish for — two boys with no medical issues, active, athletic, the healthiest boys ever.”

The two were inseparable. They played sports together in their hometown of Dover Plains, New York; idolized superheroes; danced like crazy; and dreamed of someday inventing video games. Brian was Brandon’s shadow.

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Gene therapy trial offers hope for Harry

Boy with Wiskott-Aldrich syndrome holds father's hand.
Harry and his father at Dana/Farber-Boston Children’s

In their Brookline home-away-from-home, 2-year-old Duy Anh “Harry” Le plays with blocks and pop-up toys on the floor with his mother, Thao Nguyen. He is lively and happy, and his skin is clear. He looks almost nothing like the sickly baby covered in eczema who arrived in Boston from his native Vietnam in November of 2016 to participate in a gene therapy clinical trial for Wiskott-Aldrich syndrome.

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Newborn screening and gene therapy save baby from ‘bubble boy’ disease

Baby with "bubble boy disease" pictured with his family
Levi with his Dad, Phillip, and Colton with his mom, Kala (photo by Amie Van Amberg)

Happy to have given birth in January 2015 to two seemingly healthy boys, Levi and Colton, after an uneventful pregnancy, Kala Looks gave little thought to the routine heel prick of newborn screening. At 23 and 24, she and her husband, Phillip, were high school sweethearts starting a family.

Two weeks later, a Michigan state health official called. Something came up on Levi’s screen. You need to bring him in right away. Three weeks and numerous blood draws later, the Looks had a diagnosis: Severe combined immune deficiency (SCID) — “bubble boy” disease. Levi’s blood had only a few T cells, crucial ingredients of the immune system, and those were likely his mother’s lingering cells. Soon he would have no immune system at all.

That the fraternal twins are now healthy, active toddlers, climbing onto the dining room table and leafing through picture books and starting to talk, is thanks to newborn screening and a pioneering gene therapy trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Had Levi been born before October 2011, when Michigan began screening all newborns for “bubble boy” disease, he could well have died of overwhelming infection before his first birthday.

Instead, Levi has a functioning immune system after being treated in Boston as part of an international clinical trial of gene therapy for boys born with X-linked SCID. He is one of three boys treated on the trial’s U.S. arm whose disease was picked up by universal newborn screening, now standard in 42 states. Of the other four boys treated at U.S. sites, one from South America was diagnosed at birth, because an older brother had died of the disease. Three boys, from South America or states that didn’t yet have newborn screening, were diagnosed after suffering life-threatening infections that their bodies had trouble shaking.

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Forty years waiting for a cure: ALD gene therapy trial shows early promise

adrenoleukodystrophy-Ethan-Emily
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 7-year-old.

I am sad of Ethan. You too?

A check marks the box.

— Yes. Yes, I am sad too.

Read Ethan’s story on our Vector blog and learn more about the ALD gene therapy trial.

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