‘September 02 Pinned News’
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Rockland County, NY – 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 his mom learned that her son was born with familial dysautonomia, a rare genetic life-threatening 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.
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. [thejournalnews]
Camp Simcha Special, a part of Chai lifeline Camp Simcha, actually has been a leading and driving force behind the dealing with FD and the push to have it geneticlaly tested for, he leading expert under Dr axelrod is Dr. Stuart Ditchek, a pedeiatrion from brooklyn, and medical director of Camp Simcha special, they are doing great work in dealing with and trying to reduce the number of FD children today, kol hakovod to Dr. Ditchek and Chai Lifeline
9:17, kudos to you. You actually hold the key to the end of this so called “shidduch crisis”!
I’m ashkenazi Chassidish married to a sefardi.
Stop trying to spread these false ideas of racism. I was looking for a girl with good middos, I didn’t care if our ancestors both spent golus in the same backwards countries or not.
I am just stating reality. These are two seperate cultures. One is from the Wild West and another is from Europe, and you can’t realy mix them.
You are not stating reality. Look at Lubavitch, where there are many such shiduchim, and they are just as successful as any other. In Israel too it is simply not true that A/S couples have a higher divorce rate than others.
To “Big City Actuary”
The article states that even if both parents are carriers there is only a one in four chance for the child to have this disease.
That would explain why it is so rare.
As someone who has gone through genetic testing for assorted reasons, the doctors have said that more and more diseases will be added to the list of those being tested for and unfortunately we do not know of all of them yet.
FYI- The doctor at Schneider Children’s is Dr. Jeffery Lipton, not Jay.
Many people have heard of FD. THe headline is presumptuious. Many people with FD lead normal lives.
Anon. 5:46 PM. There are no GENERIC
diseases. Only GENETIC diseases. Then there are GENERIC medications [or drugs].
As far as I know Dor Yeshurim started lately to test for a dozen new generic diseases, but I never heard before of FD.
Anonymous said…
does dor yeshorim check for this
September 2, 2007 3:54 PM
YES
anon 2:05
Is your rhetoric about klal yisroel (asks & sefs)for real? Such racism about the greatest nation ever, less than 2wks before yom hadin!
yes, this is one of the many tests that dor yesharim tests for. This disease is now entirely preventable, with H-shem’s help, now that carriers can be protected from marrying each other through the dor yeshorim testing program .
does dor yeshorim check for this
First let’s see the Sephrdim should be able to rent decnt apprtments in Monsey, which most Ashkenazim lendlords are not willing to do.
For an Ashkenazy girl or boy to take a Sephardic mate, they must either have a real bad name (at risk teen, etc.) or History of Cancer, etc.
I am just stating reality. These are two seperate cultures. One is from the Wild West and another is from Europe, and you can’t realy mix them.
In Israel, when they are mixed, a very large percentage will end with divorce. They are just not competible..
Anonymous said…
Another reason for ashkenizim and sefardim to intermarry.
Dr. Jay Lipton
schnieder children hospital is an expert on FD & the # 1 expert is joseph. Eckstein of dor yeshorim as the most knowledge of this desise & help develop methods how to live easier with this desise
Another reason for ashkenizim and sefardim to intermarry.
if one in 27 have the gene, so one couple in 27 squared, or 729, has both parents carriers, and a carrier couple has one chance in four of having a FD baby, then why are there so few of them?
Not that I’m complaining.
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.”
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.