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Yvonne Abraham

Of mice and Marisol: A child’s research legacy

Tom O’Brien and his daughter Marisol, who had Vanishing White Matter Disease.
Tom O’Brien and his daughter Marisol, who had Vanishing White Matter Disease.
By Yvonne Abraham
Globe Columnist / March 13, 2011

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Tom O’Brien stepped inside a concrete science building at Tel Aviv University on Monday morning, his billowing anticipation laced with pain.

“Hello, Sweet-pea,’’ he whispered to himself.

The former director of the Boston Redevelopment Authority was in Israel, accompanying the governor on his trade mission. But for O’Brien, the trip was about more than making connections for his real estate company. It was also about his daughter, Marisol, who died in December 2008 when she 8. And, as he explained, about Marisol’s mice.

Marisol was the youngest of the four children O’Brien and his wife Tricia adopted from Latin America. Marisol, born in Guatemala, was a joy from the moment she was placed in Tom O’Brien’s arms.

“That first night, I put her in bed next to me,’’ O’Brien recalled. “In the middle of the night, I woke up and she had both her hands on my chest, and her eyes were wide open, like she was waiting for me to wake up.’’

She was 8 months old, then. At home in Lexington, she grew into a calm, delighted toddler — the whole family’s Sweet-pea.

Then, when she was 3, Marisol began to limp. After countless doctors’ visits and tests, she was diagnosed with a form of leukodystrophy called Vanishing White Matter Disease, a rare neurological disorder which eventually left her unable to move her limbs, eat, or speak, and made her prone to seizures and muscle spasms.

From the healing waters of Lourdes to the National Institutes of Health, the O’Briens searched for miracles. Tom O’Brien remembers the day a doctor at the NIH in Bethesda gently scraped a little skin off Marisol’s right forearm to send to an Israeli doctor doing promising research into her illness. His daughter, poked and prodded so many times by then, barely noticed.

Using Marisol’s skin cells as a model, professor Orna Elroy-Stein at Tel Aviv University bred mice with the same genetic mutation — the DNA coding error that had caused the child’s disease. As far as Elroy-Stein knows, they are the only such mice in the world. They became known as Marisol’s mice.

Though they never met her, Elroy-Stein and her researchers feel like they know Marisol. Her picture is posted at their desks as they study the disease.

“When we talk as a group about the project, we always mention ‘Marisol, Marisol, Marisol,’ ’’ Elroy-Stein said, speaking by phone on Friday night. “We feel very close to her.’’

The O’Briens, too, keep her memory close: They established a foundation to help fund research into the disorder that took her life, and to support parents of kids with other neurological diseases. The initials of O’Brien’s company, HYM Investments, stand for “Hold you me,’’ which is something Marisol used to say a lot.

But it’s hard to make sense of a life as brief and painful as hers, and they struggle sometimes. And so Tom O’Brien felt compelled to see those mice.

“I wanted to see what had become of this journey,’’ he said, on the phone from Tel Aviv.

He spent three hours with Elroy-Stein and her researchers, learning about the progress they’ve made, and how much further they have to go. Then he put on a white lab coat and went down to the basement, where scores of Marisol’s mice sat in cages.

He felt his daughter’s presence there.

“It’s so hard when you go through something like this,’’ O’Brien said. “You have a lot of questions, and they don’t have answers, they’re for God. Why did the disease progress the way it did? Why did she have to be in pain? Why did she have to die?

“You begin to get some of those answers when you’re standing there looking at those mice. You begin to sense that Marisol’s purpose in part might have been to help with this path of discovery.’’

It was getting on towards noon, and O’Brien was due back at the hotel. There was a briefing by staff from the American ambassador’s office, and a meeting with Israel’s chief scientist. He was in Israel to work.

He forced himself to leave the mice, took off the lab coat, hugged Elroy-Stein goodbye.

As the taxi pulled away, Marisol’s father wept.

Yvonne Abraham is a Globe columnist. She can be reached at abraham@globe.com.