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| | Email this article • Print this article | 'Call to action' on Canavan
D.C. screening aims to raise awareness of genetic disease
by Rick Newkirk
WJW Intern
Jacob Sontag is only 8, but it is unlikely he will live to become a bar mitzvah. Jacob has Canavan disease, and without rapid scientific advances, his brain and spinal cord will continue to deteriorate, ultimately leading to death.
A rare affliction most prevalent in Ashkenazi Jews, Canavan disease was in the spotlight last week, as U.S. Sen. Hillary Rodham Clinton (D-N.Y.) joined dozens of Canavan family members at the Library of Congress for a screening of the film As Daylight Breaks, a documentary following a family in the fight against Canavan.
Clinton said the film was a call to action.
It is my hope that this film, like all the efforts leading up to it, will make it possible for even more people to put more energy into the fight to find a cure and prevention for Canavan, Clinton said.
The documentary was an undergraduate thesis project for Stefenie Sasson, a graduate of New York University's Tisch School of the Arts.
Jacob, the subject of the documentary, was guest of honor at the June 23 screening.
His illness inhibits his ability to produce an enzyme necessary for proper functioning of the brain. Without aspartoacyclase, the lacking enzyme, a Canavan child's brain will begin to deteriorate after age 2 or 3.
The film centers not only on Jacob, but on his mother, Jordana Holovach, and her struggles to provide her son with as ordinary a life as she can.
Holovach holds As Daylight Breaks in high regards.
It's a wonderful documentary that exposes the life of my son, she said. But, more importantly, it really exposes life with a chronically ill child or family member.
Along with managing Jacob's life, Holovach has testified before Congress, and in September 2000 she created a research fund-raising foundation called Jacob's Cure in an effort to raise money for a disease that flies just below the radar of the public domain.
A recent newsletter from the Jacob's Cure claimed a total $300,000 in fund raising for 2003. Although that was more than double the amount gathered in 2002, it was still short of the organization's $700,000 goal.
Canavan is what is known as an orphan disease, Clinton said. It has not received the research dollars and attention that it merits.
But the affliction is not a complete anomaly. There are approximately 200 children affected by the disease in the United States and around 1,500 worldwide, according to Dr. Paola Leone, leading researcher of Canavan disease. While most children die between the ages of 3 and 10, some patients have lived to be as old as 22.
Canavan disease is classified as a leukodystrophy, one of several rare genetic disorders that prevent the production of a necessary enzyme in the brain. Although people of any ethnicity are prone to the disease, it is mainly found in Jews of Ashkenazi descent.
To pass along the disease, both parents carry the recessive gene mutation. Any child born to two parents who are carriers has a 25 percent chance of receiving two copies of the defective gene, effectively afflicting the youngster with Canavan disease. (Canavan is one of seven genetic diseases that are primarily found in Ashkenazim and can be screened in a blood test.)
Leone began researching the illness in 1995 when she was confronted by the parents of a Canavan child. Since then, she said she fell in love with the project and spearheaded research in the field.
In 1998, her team at the Robert Wood Johnson Medical School of the University of Medicine and Dentistry of New Jersey successfully performed lipid-form gene therapy on Canavan patients.
In 2001, three patients, including Jacob, received viral gene therapy -- a process whereby Leone's team injected a virus into the patients' brains. The process was repeated in 2003 on seven more patients.
Unfortunately, Leone said, there is only so much she can do without extensive stem-cell research.
This isn't corrective, Leone said, adding the gene therapy can only have an effect on the cells that exist in the brain. We cannot replace the cells.
In 2003, Clinton sponsored the Lifespan Respite Care Act in the Senate which provides respite care funds for family members of individuals with a chronic illness or other developmental disabilities. Before the screening, she renewed her vow to those patients.
We want [the children] and others who might ever confront Canavan to know that we are supporting them and supporting in every way possible the hope for a better future for them, the senator said. We want to eventually eliminate this disease once and for all.
Gareth Holovach, Jacob's stepfather, said the family's time is always spent dealing with Canavan in one way or another.
It's our whole lives, he said. In every aspect of every minute of every day. We work to take him in for his care, and to raise money and to fund research. It's what we do.
Holovach also said he and Jordana will not let the disease take away Jacob's childhood.
He has the spirit of a child, he said. We spend a lot of time for his dignity to make sure we treat him the same as other 8-year-old boys.
Information about Canavan disease is available from Jacob's Cure (www.jacobscure.org), Canavan Research Foundation (www.canavan.org) and the Canavan Foundation (www.canavanfoundation.org).
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