A wish denied

When Melanie gazes down at her 2-year-old son, Russell, she cannot help but wonder if he is in physical or emotional pain.

Does he know what is going on around him? Does he know his mother is still in the room with him when she isn’t holding him?

Russell’s “muscles are getting tighter, and he’s losing his eyesight. He’s starting to have seizures,” says the Rockville mother, who asked that her last name be withheld for privacy reasons. Sometimes she catches herself imaging: “Who would Russell be without this disorder? I wish that the essence of Russell could have come into a healthy body. That’s what I wish for. I wish that Russell could have a full and healthy life.”

Russell has Tay-Sachs disease, a recessive genetic disorder in which the body is missing or has a significantly reduced level of the enzyme Hexosaminidase A, resulting in a progressive deterioration of nerve cells and of mental and physical abilities. While Tay-Sachs can strike later in life, most cases emerge in infancy. The victims develop normally until approximately 3 to 6 months of age, whereupon they experience loss of motor skills and visual acuity, progressive weakness and an increased startle response.

Eventually, they become totally immobilized and unresponsive. Most die before their fourth birthday.

There is no cure.

Research is ongoing, including at the National Institutes of Health in Bethesda, and in university labs throughout the country. Scientists are hoping to replace the defective gene responsible for Tay-Sachs with a corrected copy, explained Staci Kallish, a clinical geneticist and a board member at the National Tay-Sachs and Allied Diseases Association (NTSAD).

Tay-Sachs research has entered the animal-testing phase; monkeys are being tested to see if what has been working in smaller animal models (mice, cats) is safe to use on primates. In other studies, scientists are exploring the possibility of removing stem cells from the blood of an affected person, performing gene therapy, and then replacing the stem cells. NIH, since at least 2002, has been recruiting Tay-Sachs sufferers for observational studies only.

No clinical trials on human subjects are underway. While feeding tubes may prolong life for a Tay-Sachs patient, currently the emphasis is on prevention. Before deciding to have a child, the NTSAD recommends that couples be genetically tested – usually just a blood test – to see if they are carriers.

In order for a child to inherit Tay-Sachs, both parents must be carriers. If both parents are carriers, there is a 25 percent chance their child will be born with the disease.

For the general public, the odds of being a carrier are one in 250. But Ashkenazi Jews face far worse odds. “Ashkenazi Jews are all considered high risk with a carrier rate of one in 27,” according to the NTSAD.

Because Melanie was in her 40s when she wanted to have children, she and her husband conceived both their children with donor eggs. Melanie and her husband are Ashkenazi Jews; the woman who supplied the donor eggs for both boys is not.

However, she was a carrier.

Today, Brooks is a healthy, lively 4-year-old. Russell has been sick all his life. While still in the hospital, his low muscle tone was noticed immediately, but Tay-Sachs was not immediately suspected. For medical reasons, Russell’s bris took place about nine weeks after his birth as opposed to the eighth day of life, as is customary.

A doctor performed the circumcision, and Rabbi Michael Safra of B’nai Israel Congregation in Rockville delivered the prayers. It was the first time Melanie heard her son cry. “I was so happy. It was the first real cry I had from him.”

Russell seemed to be growing, and then, suddenly, at the age of 1, his body began to fail. His parents noticed one of his eyes did not appear to be tracking properly, and they took him to an ophthalmologist, who noticed a cherry red spot in the retina of Russell’s eye – a tell-tale sign of Tay-Sachs.

Today, he is nearly 2, and is already virtually immobilized. While he moves his eyes to study the reporter holding him, he flops around, doll-like, with no control of his limbs, neck or head. Russell’s parents know that their time with him is running out.

Brother Brooks still waits for Russell to start playing and running with him, as he wants, and suggests, innocently, that perhaps Russell isn’t working hard enough at physical therapy.

Melanie is aware that Russell will only get worse and that seizures, blindness and the inability to eat are in the near future. She then adds, “I love Russell more than I ever thought I could.” The couple would like to have another child. “Of course, we’re scared,” Melanie says. “If I am so lucky to get pregnant again,” she will opt for amniocentesis, a test of a fetus’ health.

Michelle Klancnik of Arlington can relate to Melanie’s story.

Her son, Ethan, who was conceived through in vitro fertilization, was born two years ago. “He was perfect in every way. He progressed normally as far as we can tell until 6 months. He was almost sitting up at 6 months.” Shortly thereafter, Klancnik and her husband began to notice problems. “He startled suddenly. He had low muscle tone and when he saw something, he grabbed for it but could not quite get it.” Yet, he was social and laughed a lot, she recalls.

But at 10 months, came the diagnosis: Tay-Sachs. Less than a year later, he was dead. Klancnik says being able to comfort her son at the end was a help, but she wanted to tell researchers: “Work harder and faster. It’s heartbreaking to hear that there is no cure, no treatment.”

Ethan almost joined a clinical trial at the NIH but side effects of the treatment caused the trial to be canceled. The family was told that a feeding tube and other interventions “could keep his body alive for a few months, but he would suffer,” she says. “He was at the point where he could no longer cry, no longer laugh.

The inability to swallow is a sign that he was ready.” When they first learned of Ethan’s disease, Klancnik was asked if she was an Ashkenazi Jew, or had relatives with that background. “I had heard of Tay-Sachs, and I knew that it was awful. I thought it was confined to Jews, because that is what [some] doctors lead you to believe.”

Since her son’s death, Klancnik has turned her attention toward preventing other families from experiencing what her family did. She has created her own website – TSAPO.org, Tay-Sachs Awareness and Prevention Organization. The website features a smiling picture of Ethan, beside the following statement: “I passed away from Tay-Sachs, a genetic condition that is fatal in early childhood. With the right testing [of parents], it is almost completely preventable and so my wish is that everyone would have access to genetic testing and that no one would suffer from Tay-Sachs or other preventable genetic disease again.”

[email protected]

@SuzannePollak

See related story: Screening for ‘Jewish’ diseases