Battling against Batten disease CellCept, used for organ transplant patients, may help children with the rare and fatal neurodegenerative disorder; further study of the drug is stalled due to lack of funds
Monday, November 12, 2007
By DIANE O'DONNELL
STATEN ISLAND ADVANCE
STATEN ISLAND, N.Y. -- Lauren Surrey steps on to the alley. With the help of her aid and friend, Danielle Venice, the legally blind 13-year-old rolls the bowling ball down a special railing toward the pins. Crash! Two pins remain standing.
Nearby and waiting her turn, Michele Surrey, 18, sits in her wheelchair.
On second try Lauren picks up the spare. She hears the cheers of dozens of onlookers at the Batten disease bowl-a-thon at Rab's Country Lanes in Dongan Hills.
"Yeah! Good job," yells Venice. "Give me five."
Lauren gleefully slaps Venice's hand. For a moment, the Prince's Bay teen savors the thrill of victory.
"She can't process all this," says her father, Fred Surrey, co-founder and vice president of the Metro NY/NJ Chapter of Batten Disease Support and Research Association (BDSRA). "But she's smiling now."
The Surrey sisters have the juvenile form and most common type of Batten disease, a rare, inherited, fatal neurodegenerative disease that can occur at three stages in childhood: infantile, late-infantile and juvenile, and occasionally, adulthood.
In the juvenile form, signs of the disease usually occur between the ages of 5 and 10 and may be subtle, such as personality and behavior changes, slow learning, clumsiness or more apparent vision problems and seizures in a formerly healthy child.
Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills, eventually becoming blind, bedridden, demented and unable to communicate. The disease is usually fatal by late teens or early 20s.
HOPE FOR THE FUTURE
There is no cure for the disease. But recently, research into slowing and possibly reversing some of the debilitating aspects of the infantile and late-infantile forms has been investigated in studies involving gene therapy and stem cells.
Research on a drug that may slow the loss of motor skills in the Surreys' juvenile form has been stalled because of lack of funds. The drug, Mycophenolate Mofetil (CellCept), used to prevent the body from rejecting organ transplants, slowed the disease progression in a study using Batten-afflicted mice.
In children with Batten disease, their immune system turns on them, researchers theorize, causing some of the disease progression. The self-attack response is similar to that of an organ recipient's when a kidney or liver is transplanted.
"It just happens that the one lucky break we have is that for one of the things that's dysfunctional in Batten disease, there's already a drug that targets it that's used for something else," explains David Pearce, a biochemist who conducted the mouse-model study at the Batten Disease Diagnostic and Clinical Research Center at University of Rochester Medical Center.
But in order to try CellCept on children with the disease, the Rochester center needs approval from the Food and Drug Administration. The cost to do such a clinical trial, which includes hiring more staff to design and monitor it, is estimated at $500,000.
"We want to do it as soon as possible," says Pearce by phone from Rochester, "but without the funds we can't start the necessary process."
Known as an "orphan disease" because nationally there are so few cases, its low numbers provide little financial incentive to pharmaceutical companies to make and market medications for it. Batten disease families are now trying to raise money for the CellCept study on their own.
The Nov. 3 bowl-a-thon raised more than $21,000 toward that goal.
For the last seven years, the Staten Island Chapter of the New York State Society of CPAs has been hosting the bowl-a-thon, thanks in part to Surrey's long-time friendship with Gerard LoVerde, a certified public accountant and past-president of the society.
"One of the difficulties that we're faced with is Batten disease is not well known, so it becomes a difficult thing when you start talking to people about a disease that nobody's heard about to try and raise funds," says Lance Johnston, executive director of the Ohio-based BDSRA, an international support and research networking organization for families of children with the disease. "Add to that the fact that nobody rich and famous has a child with Batten disease and it's just that much more difficult."
UNKNOWN NUMBERS
While the disease is rare, just how rare is unknown. According to the National Batten Disease Registry, housed in the Institute for Basic Research in Willowbrook, there are about 450 children and young adults worldwide living with the disease. The BDSRA puts those figures at about 400 here and estimates about 3,000 worldwide.
"I can tell you how many children and young adults we know about that have Batten disease, but that's not all of them," says Johnston, who notes that many countries will not release such information. "There's no reporting mechanism. It's not like a communicable disease where there's required reporting to the CDC, so there's a lot of children that we don't know about."
Add into that equation the number of children who are misdiagnosed -- often as epilepsy, mental retardation or retinitis pigmentosa -- and the figures blur even further, says Johnston, who lost a daughter to the disease.
It took almost two years before the Surreys learned what was wrong with their first-born daughter.
At age 5, Michele began having vision and learning difficulties in school. Prescription eyeglass failed to help.
A series of appointments with pediatricians, ophthalmologists and a retina specialist followed with a misdiagnosis of Stargardt's disease, a rare non-fatal genetic disease with symptoms similar to Batten disease.
"You lose track of how many doctors you see," says the girls' mother, Janet Surrey.
In 1998, Michele became ill with a fever of 104.7 and her vision declined drastically, prompting a visit to a neurologist, and a new series of tests that pointed to Batten disease. Two years later, Lauren began having vision and learning difficulties.
Carrier and prenatal tests for the juvenile form of Batten disease were developed in 1996.
AT HOME
Away from the noise and activity of the bowling alley, life for the girls has peaks and valleys that can change in a heartbeat.
At home, Michele sits at a desk in the living room alongside the television. A DVD of "Shrek" (a favorite of the girls) plays for the umpteenth time.
"All she has is light perception -- light and dark -- and if it's subtle, she wouldn't know the difference at all," says Fred.
Nearby, Lauren rummages through her school bag.
Suddenly, she becomes irate when newly purchased dolls can't be located. Lauren's voice raises to a high-pitched scream. The parents begin a doll hunt.
Within minutes, Fred enters the room with two unopened boxes -- one with a Barbie in it, the other a Bratz. Lauren, who has some peripheral vision left, holds a box within an inch of her nose.
"I don't want it," she shrieks, chucking Barbie to the floor. The Bratz doll also fails to calm her.
Lauren's "melt downs" can last minutes or hours. They can involve shouting, biting and flailing her legs and arms.
"It can be sparked by nothing. It can be sparked by something," Fred says, matter-of-factly. "She was looking for something that she thought wasn't there. In her mind she knows exactly what she wants, but she can't tell you what it is."
TRYING FOR NORMALACY
To help normalize the homefront routine, Venice, 27, a residential habilitation worker with On Your Mark, assists the family 20 to 30 hours a week.
Despite their health struggles, the Surrey girls relish doing what most teens enjoy -- for example, on Friday nights they accompany Venice to the mall for shopping and fast food.
Every year the Surreys attend the annual three-day Batten disease conference to network with other families enduring the illness, learn of new research and honor those children who've died. This year's conference, held in Rochester, N.Y., in July, was particularly hard for the family, because a close friend of the girls' succumbed to the disease.
"Some people tell their children it's a terminal illness," says Janet, briefly gazing at her husband's eyes. "We choose not to."
The decision is partly due to the girls' diminished ability to understand such a concept. The parents estimate their daughters are functioning at a second-grade level.
It's also partly to preserve what happiness they have, adds Fred.
"I think Michele knows in her heart what's happening."
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