(No. 14/2002 - December 2002)
Editor: Fran Bock
The Echo of a Heart's Break
by Sonia Peltzer, M.D.
About 500 years ago, in a shtetl near the town of Minsk, Russia, a child was born to a Jewish couple. The child looked every bit like the couple's other children, but hidden inside its body was a secret that would touch the lives of thousands and would take 500 years to repair.
The baby grew, became an adult, and was married. Soon children arrived, a happy family, grandchildren and great-grandchildren. A large family that by appearances was no different than their neighbors in the shtetl they called home. Until one day, years later, a marriage match was made and cousins married; second or third cousins, distant relatives but for their connection to their one shared ancestor.
There was a special something between the bride and groom, as if their marriage had been chosen to endure the pain that would haunt their future. Over time they had several children, talismans against loneliness, a comfort for their old age. And then, the wife gave birth to a child that was different. Unlike its siblings, this baby was sickly from birth. It couldn't nurse well. It would go into fits of gurgling and then coughing. Later, days of vomiting, with sunken eyes and tautly drawn skin, would strike the child. But when the child was well, such a spirit shone from within that everyone was touched with its beauty.
And then one day, when the mother went to check on her sleeping babe, she found the child dead in its bed, soaked with vomit. It was not unusual for families to lose children in those times. But this child had survived years of illness, delayed walking and talking, and had begun to thrive. The parents were heart-broken. Their child had touched them to the very core of their souls. No one would ever understand; no one would ever feel their loss. But little did they know that the tears that flowed like rivers down their faces as they buried their little one would follow the terribly familiar path down the faces of parents just like them; the same sound they heard as their hearts broke would be echoed across the years. Theirs was the first child to die of Familial Dysautonomia (FD). But thousands more would suffer the same fate.
When their great-great-great grandparent had been conceived 500 years ago, a strange mistake happened. Instead of receiving 2 normal copies of the IKAP gene, an error occurred in one copy and one piece of DNA was substituted for another. The substitution, or mutation, was spontaneous and because there was still a normal or "good" copy of the IKAP gene, there was no significant change in cell function and no observable symptoms. This ancestor passed the faulty gene silently through the generations and no one knew the difference. No one that is, until two cousins, who had each inherited this mutation, were married and had a child who got a copy of the mutation from each of them.
Their child had FD and so do mine. I am a descendent of the same Jew who was born and died in a shtetl near Minsk nearly 500 years ago. So is my husband. Thinking only that we shared the common heritage of Russian and Polish Jews , we had no idea that we were distant cousins who had inherited a silent and deadly mutation, a mutation which we would someday pass along to our children.
They say that a person born 500 years ago has approximately 1 million descendents living today. It is not surprising then, that FD has a carrier rate of 1 in 27 among all individuals of Ashkenazi Jewish descent. The FD mutation is as common as Tay-Sachs. You could be a descendent of the founder of this mutation. You could be my cousin.
The rate of FD among Jewish births is 1 in 3600. Yet because of lack of awareness and insufficient prenatal testing, there are more children born to Ashkenazi Jews each year with FD than with Tay-Sachs.
Young couples of Jewish descent are now lucky. When the mutation was identified in 2001, testing for Familial Dysautonomia became available for all those at risk, anyone with the possibility of Ashkenazi Jewish descent. And with the development of pre-implantation screening (in vitro fertilization which allows for implantation of only unaffected fetuses), couples who each carry the mutation are able to safely bear unaffected children.
But the final chapter of this story has yet to be written. Because of the unique character of this mutation, researchers are finding that they can alter the way that the mutation is expressed. The equivalent to a gene therapy cure can become a reality within the next 2 to 4 years. The children who suffer with FD today as well as those who will yet be born before testing becomes widely adopted, have a chance to be cured of FD.
Tikkun olam. 500 years ago, a genetic mistake was set into motion that has killed thousands of Jewish children. We have a monumental opportunity to repair the devastation caused by this error; to do tikkun olam. The time is at hand to close the door on this disease. With your help, our children will be alive to hear its slam.
NOTE: There is a second less common mutation that causes FD and is also found among Ashkenazi Jews. Please make sure that you have been tested for both mutations that cause Familial Dysautonomia.
If you would like to find out more about research that will expand treatment options and find a cure for FD; to support patients and their families; and to promote awareness of FD and its prevention, please contact the author directly (Dr.Sonia Peltzer ) or visit her website at www.fdvillage.org .
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