Family hopes Jacob’s Light will spare others from their anguish

Wednesday, Aug. 4, 2004 | 11:08 a.m.

Foundation

To learn more about Jacob's Light Tay-Sachs Disease of Nevada or to donate to the foundation call (702) 384-4800 or e-mail Michelle Chapman at jacobslight @ cox.net.

To help the DeFevre family defray medical costs not covered by their insurance an account has been set up at the Nevada State Bank under Michelle Chapman on behalf of Jacob DeFevre. Deposits can be made to Account No. 0748003407.

To learn more about Tay-Sachs Disease on the Internet, some recommended Web sites include:

When Jimmy and Summer DeFevre's first child, Jacob, was born on Sept. 5, 2002, at Desert Springs Hospital they were told he was healthy.

Jimmy, 28, a Bonanza High School graduate, had dreams his son would grow up and break his state 50-yard freestyle swimming record or would play baseball and soccer, just as he had done.

But what Jimmy and Summer did not know was that they are carriers of an extremely rare genetic neurological disease called Tay-Sachs. One in every 250 people is a carrier of the disease.

Tay-Sachs is incurable, and there is no treatment for it. The genetic disorder destroys the central nervous system and is always fatal. The infantile and juvenile strains of the disease kill victims by age 5 -- many even younger, medical experts say.

Jacob began showing symptoms when he was 6 months old. He was not diagnosed with the disease until four months ago.

Jacob lives each day with seizures and the inability to have a bowel movement without the use of suppositories. He is blind and soon will need a tracheal tube to help him breathe and swallow, his doctors say. Death is a matter of months away.

"When I was told Jacob had Tay-Sachs I knew nothing about the disease, but after I learned about what it does, my world crashed in," said Jimmy DeFevre, who put his career in real estate sales on hold to be a stay-at-home dad and give Jacob round-the-clock attention.

"I love Jacob with all of my being, but I'm torn because as much as I want him to live and get well, I know there is no hope for him and I do not want to see him suffer."

Jimmy's mother, Michelle Chapman, who also is a carrier of the disease but did not know it until being tested recently, assists her son and daughter-in-law in the care of Jacob and does not want to see what happened to her family happen to others.

Recently Chapman, Jimmy and friend Geralyn Guidice founded the Jacob's Light Tay-Sachs Disease of Nevada Foundation. It received its corporate charter on May 5, according to records filed with the Secretary of State's office. Chapman says she is awaiting the organization's non-profit certification.

"Jacob brought a light into our lives and he puts a light on the subject of this horrible disease -- a light that should have been put on it a long time ago," Chapman said.

"Our organization, in addition to raising funds to assist families of children with Tay-Sachs, will work with organizations such as the Jewish Community Center to encourage a pre-pregnancy testing program that will help prevent others from going through what my family is experiencing."

Cases of Tay-Sachs are very rare, but there are many people who carry the gene trait for the disease and don't know it, and the disease is being reported more frequently in a wider variety of ethnic groups.

Once a disease generally limited to Eastern European Ashkenazi Jews, Tay-Sachs is becoming more wide-spread among varying ethic groups, including people of Irish descent, French-Canadians, American Cajuns, Hispanics, Greeks, Turks, Spaniards and people from Asia and India, experts say.

Medical research has found that one in every 27 Ashkenazic Jews, Cajuns and French-Canadians are carriers and that one in 50 to 190 Irish-Americans are carriers. About one in 2,500 new-born Ashkenazic Jews gets Tay-Sachs disease.

Carriers of the disease cannot get Tay-Sachs. However, when two carriers have children there is a 25-percent chance their children will be born with Tay-Sachs, a 50-percent chance they will be born a carrier and a 25-percent chance they will be born healthy and not a carrier.

When a carrier and a non-carrier produce a child there is a 50-percent chance the baby will be a carrier and no chance the child will get Tay-Sachs. When two non-carriers produce a child there is no chance the baby will be a carrier or get the disease, medical experts have determined.

According to the National Institute of Neurological Disorders and Strokes, carriers have a genetic mutation of hexosaminidase A, an enzyme. That condition causes a fatty substance called ganglioside to accumulate abnormally in cells, especially the nerve cells of the brain.

Although a child often appears normal at birth, the disease progresses, slowing a child's development and destroying motor skills. It eventually leads to retardation, breathing difficulties and paralysis before death, experts say.

Jacob, like many Tay-Sachs children, was misdiagnosed because many doctors have never seen Tay-Sachs. Doctors initially diagnosed him with muscular dystrophy and cerebral palsy before a simple eye test discovered cherry-red spots in the back of his eyes -- the dreaded trademark of Tay-Sachs.

Know before birth

Jayne Gershkowitz, executive director of the National Tay-Sachs and Allied Diseases Association, also urges pre-pregnancy testing and, if necessary, testing during pregnancy, which can determine if a child will be born with Tay-Sachs less than 12 weeks into a pregnancy.

Las Vegas pediatrician Dr. Michael Rosenman, who treated one Tay-Sachs baby in Texas and another in California prior to coming to Las Vegas nine years ago, says it is frustrating for doctors "because there is no hope and no cure on the horizon.

Rosenman said the best that doctors can do is treat the symptoms of Tay-Sachs with medicine to numb the pain and lessen the impact of seizures.

"I strongly urge testing to reduce the risk of children being born with Tay-Sachs," he said.

Jimmy DeFevre said his biggest regret is that he and his wife didn't know they were carriers, and he said they hope they can spare other parents from the agony they are going through.

Summer works in customer service for a local credit service company. After Jimmy completed school for real estate, it was decided that she would keep her job because she had health insurance for the family.

"In addition to taking care of Jacob, the foundation is what gets me out of bed each day," Jimmy DeFevre said.

"By doing what I can to get the word out about Tay-Sachs I feel I am accomplishing something. My son will die but his spirit will live on through this foundation and the work we will do."

He said that cost and other excuses should not stand in the way of Tay-Sachs testing before a decision is made to have children, especially among members of at-risk ethnic groups.

Gershkowitz said testing for Tay-Sachs costs $75 to $300 per parent and is not always covered by health insurance. In some cases, she said, testing is only covered for women after they become pregnant.

Her organization recommends just 33 laboratories nationwide that meet the organization's quality control standards to conduct carrier tests. The organization does not make recommendations of labs that do pre-natal tests.

DeFevre said that while he and Summer will never again risk having children through conventional means, there is hope for them and other Tay-Sachs carriers. He said artificial insemination using his treated sperm and his wife's treated egg can produce a healthy child. And adoption also is an option.

But, DeFevre admits, the toll that Tay-Sachs has taken on his young family cannot be measured solely by Jacob's daily suffering or the financial burden brought on by any debilitating ailment.

"Summer and I have gone through a lot and things are rocky right now," he said. "We're confused. She is not sure whether she wants another child. We have a lot of issues to face. We hope that in the end what has happened -- and what is going to happen -- will make us stronger."

His mother, Chapman, also wrestles with demons.

"I hope this story will scare people -- scare them enough to get tested so this will not happen to them," she said. "I passed this (disease) on to my son. I am in part to blame for what has happened. I have to live with that."

Progress made

Gershkowitz said her national organization, which receives no state or federal funding, relies on private donations and other philanthropy to provide help for families and money for research.

"We have seen some progress," she said. "There are clinical tests being done on those who have late onset Tay-Sachs (the only strain of the three types of Tay-Sachs where a victim survives to adulthood)."

She said clinical testing for infantile and juvenile Tay-Sachs is on-going in laboratory mice.

Another area of research utilizes controversial stem-cell research, which uses tissue from aborted fetuses.

Chapman and DeFevre said those who donate to their organization can stipulate that their gift not go toward stem-cell research if the donor opposes such research. They said those donations instead will go to microbiology research, which also is being used to try to find an effective treatment or cure.

The local organization plans in Jacob's lifetime to start a Web site, hold a benefit concert and otherwise raise money to help families of victims offset the cost of phenobarbital, which is used to control seizures; special car seats for victims with paralysis; and easily digestible foods such as Pediacure.

For now, it's a waiting game for the DeFevres.

"All we can do now for Jacob is love him unconditionally, make him comfortable and pray," DeFevre said as he cradled Jacob in his arms and comforted him through a brief but rasping cough. "It seems to be working."

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