Nothing can ever truly prepare a parent for the hardship of a child born with a severe handicap. For the Perlowski* family this was especially true when their third and fourth children were born with a severe vision impairment. They were told that the condition is unfortunately known to degenerate and in many cases, cause complete blindness.
After two children with perfect vision, the double occurrence of this vision impairment was a clear indicator that something was seriously wrong, especially considering that there were other extended family members whose children were born with similar symptoms.
As her children began to reach marriageable age, Mrs. Perlowski started to worry. If this condition were indeed genetic, as evidence suggested, how could she proceed with shidduchim?
Determined, Mrs. Perlowski picked up the phone and made the call that would change everything. She called Dor Yeshorim.
Unbeknownst to many, Dor Yeshorim, the preeminent premarital genetic screening organization, is also the premier worldwide source of information, guidance, and research when it comes to genetic conditions.
After assuring the family that we would remain at their side every step of the way, we invited the parents to meet with us in the New York headquarters. We took a detailed history and discussed the concerns at hand. The information provided, coupled with the knowledge that extended family members also suffered from severe vision impairment, led Rabbi Ekstein and his team to strongly suspect that there was indeed a genetic component at play.
Initially, the testing yielded no definitive results. Without a clear cause of the disease, we could not begin working on developing a reliable compatibility test that would enable their children to proceed with shidduchim.
We needed to conduct more extensive testing to help figure out the underlying cause of the blindness. In order to do so, we would need DNA samples from the unaffected children in the family as well as all the extended family members who had a history of the mysterious disease. This would better help us with identifying the specific genetic mutation.
We contacted all the family members in question and with sensitivity and patience, we explained the complicated case and how pivotal their DNA samples would be to untangle the cause of the disease. Their help could well provide the answers that would save future generations from blindness.
We Found the Gene!
Three months later, Mrs. Perlowski answered her ringing phone. “We found the mutation!” exclaimed Rabbi Ekstein with joy. Finding the answer had taken hours and hours of intense and extremely costly research and analysis, done with the most sophisticated laboratory equipment available. The results showed that the extended family had a rare and previously undocumented mutation causing the blindness.
Knowing the exact mutation meant that we now had the information needed to develop case-specific genetic testing. This tailor-made test will allow Perlowski children and relatives to enter into shidduchim with peace of mind, knowing that Dor Yeshorim has the necessary means to ensure both parties are not carriers of the genetic mutation causing the vision impairment.
The story does not end there.
With the genetic mutation clearly defined, Dor Yeshorim is currently working with a group of professors researching the option of gene therapy for this gene, which could potentially stop the regression of the disease. The hope is that one day we can call the family and say: “We have unraveled the genetic mystery and hopefully with Hashem’s help improve and/or stop the regression of your children’s eyesight.”
*names have been changed to protect the privacy of individuals.