The Journal News, Sunday September 2 (front page)
By Khurram Saeed

A disease 'most people have never heard of' hits home
 
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Soon after Jack Posnack was born on Dec. 7, 2005, his mother noticed something very strange. Her son didn't cry.

Not when he was hungry. Or when nurses stuck him with a needle. Or when he was circumcised.

At most, he whimpered.

Jack, born four weeks premature, also would not drink more than an ounce of milk, so he had to be force fed through his tiny nose. A tube was inserted into Jack's chest and he was put on a respiratory machine to help him breath. His body temperature and blood pressure were erratic.

Doctors "scratched their head for three months," said Jack's mother, Robin Fiddle Posnack.

It would take until February 2006 before the New City woman learned that her son was born with familial dysautonomia, a rare genetic disease that plays havoc with the body's nervous system. Also known as Riley-Day syndrome, there are fewer than 350 people in the world with FD - with at least seven of them living in Rockland and Westchester.

"This is an incredibly rare life-threatening disease that most people have never heard of," said David Brenner, executive director of the Dysautonomia Foundation, which has its offices in Manhattan.

FD almost exclusively affects people of Jewish descent with roots in Eastern Europe. One in 27 Ashkenazi Jews is a carrier of the gene that causes the disease. In order to pass it on, both parents have to be carriers. With each pregnancy, they have a one in four chance of having a child with FD.

"The greatest concentration of these people are in the United States and Israel. And in the U.S., the greatest concentration are in the New York metropolitan area," said Brenner, a New City resident.

Brenner and his wife, Alyson, have a 20-year-old son, Michael, who has FD. When Michael was born, the average life expectancy of someone with the disease was five years. Today, thanks to improvements in care and treatment, the average life expectancy has increased to 40 years, Brenner said.

Raising money has always proved to be a challenge since so few people are personally touched by the disease, Brenner said.

Recognizing symptoms
Babies with FD cannot suck or swallow like normal babies, making it difficult for them to maintain their own weight. What they do swallow often ends up in their lungs, leading to infections and pneumonia. They feel little or no pain. The disease hits the body's autonomic system hardest. The body's ability to breathe is impaired, their bodies experience tremendous extremes of blood pressure and heart rate, the digestive system shuts down and babies are not able to produce tears.

For some people, the symptoms become less severe or more manageable, allowing them to get through the day, Brenner said. For others, the disease gets progressively worse, and they suffer from renal failure; curvature of the spine requiring them to use a walker; and corneal abrasions, in some cases, leading to blindness.

There was no way for a person to know they were a carrier until 2001, when the gene that causes the disease was discovered and a carrier test developed, Brenner said. The foundation has raised well over $10 million over the past 15 years for research and treatment, and runs two FD treatment centers in New York City and Jerusalem. Although there is still no known cure, there is reason for optimism one will soon be found.

Brenner said researchers are four years into testing a compound at molecular levels to see if it could become a treatment. Clinical trials are several years away.

"Prior to having the genetic testing, the only way for a family to know they had the disease was to have a child," said Dr. Felicia Axelrod, director of the Dysautonomia Treatment and Evaluation Center at New York University Medical Center in Manhattan.

Even though blood tests have been available for years to detect the recessive gene - it's part of the "Ashkenazi Jewish Genetic Panel" typically administered to those of Jewish descent to test for Tay-Sachs and other diseases - the general awareness level among doctors and people at risk of FD is not good, Axelrod said.

Fiddle Posnack, who had a healthy son from a previous marriage, said her Manhattan doctor never tested her for FD in 2005, four years after the test was developed.

"As patients we have to make sure that we check our doctors," she said. "We really have to make sure our doctors are testing us."

Fiddle Posnack is three months' pregnant with twins, and tests have shown 92 to 95 percent that they do not have the disease. She and her husband will be able to confirm the twins are 100 percent free of FD within three weeks, she said.

Developing treatments
Axelrod, a pediatrician, has devoted 37 years of her life to helping families affected by the disease and developing treatments.

She recalled when parents would think their child was allergic to milk because the child would quickly become congested.

"We realized they weren't allergic to milk," Axelrod said. "The milk was going into the lung."

One of the earliest developments that has had the greatest impact was giving children feeding tubes so the liquid could go directly into their stomachs. This prevented food from flowing back from the stomach into the esophagus and into the lungs, greatly reducing the risk of lung disease.

Rebecca Newman, 10, was 15 months old when she had surgery to have a feeding tube put in her stomach, her mother, Lisa, said.

The Rye Brook girl has a mild form of FD. Her 12-year-old sister, Julia, does not have the disease.

Today, Rebecca eats solid foods well but needs liquid through her tube to keep her well hydrated - once an hour while she is awake.

"Nobody had any idea what they were dealing with," said Lisa Newman, who works as a part-time special education teacher with preschools around Westchester. "Still, to this day, if I take her to other doctors, they will always defer to my judgment."

Rebecca also takes medication twice a day to keep her blood pressure up. Using drugs to control blood pressure was another major breakthrough in the 1980s.

"Parents were able to treat their children at home," Axelrod said.

Five years ago, Newman's daughters came down with a viral infection. While Julia was able to recuperate at home, Rebecca, then 5, spent five days in the hospital recovering from pneumonia.

"You always have to be aware and thinking ahead, and assessing what does she need," said Newman, who agreed the awareness levels of FD are "just terrible."

Coping with crisis
One of the greatest concerns for parents of children with FD are what are known as "autonomic crisis." It can be triggered by physical stress or the anticipation of an event, such as a birthday party.

A crisis for these children means their blood pressure will soar, their hearts will race, they will sweat profusely and they will feel nauseated, Axelrod said.

"We found a few drugs that could break the crisis," she said.

One of them was Valium.

Fiddle Posnack inserts a syringe filled with liquid Valium into a button connected to her son's belly three times a day.

The family moved to New City from Manhattan last summer to be closer to Fiddle Posnack's identical twin sister, also in New City.

Fiddle Posnack, who ran a computer software training company in Manhattan before staying home to take care of Jack, has to take many precautions to keep her son safe, healthy and comfortable.

She mostly keeps him inside the house during the summer. The temperature is set at 68 degrees. They don't go outside in the wind or to the beach because if Jack gets sand in the eye, he could have a corneal abrasion that could permanently damage his vision. She puts drops in his eyes every two hours to keep them moist.

Although Jack does not talk or walk, he does make basic sounds and has been cruising on the furniture. He has normal intelligence, but this month he will join Jawonio, a New City-based agency that cares for people with disabilities. Jack will receive physical, occupational, feeding and speed therapy there five days a week.

"He has a determination that's unbelievable," his mother said.

Jack stacks blocks.

He throws a baseball.

And he blows kisses.