Illness has ‘no funding, no treatment, no cure’

Four-year-old Jamison Eberstein squeals in delight as she practices walking down the driveway. She enjoys all things princess and listening to her mother read Pete the Cat books.

She is particular about the outfits her mother chooses and won’t allow herself to be clad in clothes she doesn’t like.

But the child weighs only 29 pounds and has yet to reach three feet tall. She wears pink glasses, uses a walker, needs a feeding tube for nutrition and is nonverbal.

Jamison has Cockayne syndrome, “a very rare, inherited genetic disorder. The frequency is one in a million throughout the world,” according to Dr. Kenneth Kraemer, chief of the DNA repair section at the National Cancer Institute, part of the National Institutes of Health, in Bethesda.

Cockayne syndrome is a progressive degenerative disease in which the aging process is greatly sped up. Jamison may suffer from hearing loss and cataracts when she is still a child. Her life expectancy is hard to determine, given how few children have this syndrome, but she may live only to be an adolescent or young adult, Kraemer said.

“There is no funding, no treatment, no pharmaceuticals, and no cure — just nothing,” said her mother, Nikki Herson Eberstein of Potomac.

However, the syndrome can be diagnosed prenatally by examining amniotic cells cultured in vitro.

Shortly before Eberstein’s first child, Jackson, reached his second birthday, Jamison was born six weeks early. Eberstein, 35, saw a difference in her children almost immediately. Jamison didn’t make eye contact. She didn’t seem to know her family.

When her motor skills seemed delayed, Eberstein had her medically tested and was told Jamison, who was then 2 years old, had brain damage and probably had cerebral palsy. She had regular MRIs to check on her brain, Eberstein recalled.

A new doctor advised the family to undergo a $25,000 test; Eberstein balked. But the doctor insisted, and that is when she and her husband, Jason, learned the news that their daughter had a medical condition that neither they, nor anyone they knew, ever heard of.

Eberstein said she first refused to accept the diagnosis. “I don’t do ‘no’. ‘No’ is not really part of my vocabulary,” she said. She turned to the Internet and found the Share and Care Network, which helps guide people who have a family member with Cockayne syndrome.

Eberstein proceeded to contact every doctor on the network’s list. “I reached out to every single one of them. Nothing. There really was nothing,” she recalled.

So that someday other families won’t face that same hard reality, Eberstein organized a fundraiser July 10 at Woodmont Country Club in Rockville. She went at it like it was a bar mitzvah celebration, with lights, music and food.

“This is an incredibly sad disorder, and I don’t want this to be sad,” she said of the party, which raised more than $175,000 for Cockayne syndrome research.

Jamison is anything but sad. Her mother describes her as “pure joy. There is nothing about this child that is not joyful. She is happy. She is fun. In a word, she is joy.”

Both of Jamison’s parents carry a defective gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. While their abnormalities may be different, for their child to have Cockayne syndrome, the same gene had to be the one with the abnormality, Kraemer said.

There isn’t much that can be done for Jamison, but research in the laboratory is progressing, according to Dr. Kraemer. The National Institute of Aging is testing mice that have Cockayne syndrome. Adding different cells to the affected gene “seems to help the mice,” he said.

However, clinical trials on people have not been attempted, he said.

Meanwhile, Jamison has nine therapy sessions a week. She receives physical therapy four times a week, occupational therapy twice and speech therapy three times. Her physical therapy involves assisted walking, rolling around on a ball, even riding a bicycle.

This summer, she is attending the Jewish Community Center of Greater Washington’s summer camp’s inclusion program.

During the school year, she is in a program at Forest Knolls Elementary School. The family, which has grown to include 17-month-old Grayson, attends Congregation B’nai Israel in Rockville.

To other parents who learn their child has Cockayne syndrome, her advice is simple. “When the doctors and professionals know nothing about it, it becomes very challenging. You become literally your own advocate. Hang in there.”

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@SuzannePollak