winning the war against genetic diseases

WINNING THE WAR AGAINST GENETIC DISEASES

One Man’s Life’s Mission PART I

18 July 22, 2015

BY YITZCHOK SHTEIERMAN

Reb Yosef Ekstein

Thirty years ago people weren’t aware

of Tay-Sachs, the terrifying genetic

disease that plagued Ashkenazic

Jewry — because the stigma in aff ected

families was so great that they would do

everything possible to conceal the truth

about their children who inherited a

genetic illness.

Today the young people in our

community — including those at the stage

of shidduchim — aren’t even aware of

Tay-Sachs because it has been rendered

virtually extinct, thanks to one man with

a vision, who has fueled his Herculean

eff orts with his immense suff ering and

with great siyatta diShmaya.

As Dor Yeshorim marks 30 years since

its founding, Inyan was treated to an

exclusive interview with Reb Yosef

Ekstein, its venerated founder. With

powerful faith and an indomitable spirit

he continues to change the landscape of

genetic diseases in Jewish communities

the world over.

196 Av 5775

‘What Do We Know?’Reb Yosef Ekstein welcomed Inyan to the Dor Yeshorim

offi ces in Williamsburg where a staff of dedicated professionals work every day to ensure the mission that he promised to execute 30 years ago: that not one more couple in Klal Yisrael, Heaven forbid, should know the anguish that he and his family have endured.

Among the employees of Dor Yeshorim are some who carefully examine tests and provide compatibility results, while others fi eld the many delicate issues relating to individuals concerned with genetic diseases occurring in their families and helping them avert the worst. Still others coordinate mass school screenings and community-wide testing events, where hundreds of boys and girls may be screened in one day. And then there are homegrown whiz kids — heimishe yungeleit who continue to surprise even veteran industry experts with their innovations and insights into the world of genetics, genetic diseases and genetic screening.

Reb Yossel himself remains the ever unassuming Satmar Chassid, as he passionately relates his personal journey … a journey that has become the journey of many Orthodox communities within Klal Yisrael.

“We got married in 5723/1963. When our fi rstborn turned about six months old, he stopped developing. Keep in mind that at that time Tay-Sachs, or for that matter other genetic diseases, were simply not on the radar. It was something that nobody dared speak about. Those who were unfortunate enough to be struck by such tragedies did everything humanly possible to hide it — [lest] they wouldn’t be able to make shidduchim for their other children. And so there was simply no awareness and no knowledge. Similarly, diagnosis of genetic diseases was also primitive, even in the medical community.

“You must also understand that in der alter heim, back home in Europe, the general mortality rate among children was very high. My own brother was tragically niftar from an ear infection. My father went out to raise the money to pay the pharmacist in town. By the time he returned, the doctor would no longer administer it to my brother because he felt the chances for recovery were too slim, and it wasn’t worth ‘wasting’ the medication on him. Surely genetic diseases existed then, but we don’t know how widespread they were. There was probably no awareness, and there was certainly no possibility of being forewarned about joint carrier status, so the majority of the deaths of infants and children went undiagnosed.

“When our son stopped developing and later began regressing we did not know what to think. We ran from pediatrician to pediatrician, most of whom said, ‘He’s just lazy,’ or ‘He’s just taking his time.’

“Then we went to the Rebbe [Harav Yoel Teitelbaum, zy”a]. It was Isru Chag Sukkos at the Rebbe’s home on Bedford

Avenue. The Rebbe’s strenuous avodah throughout the days of Hoshana Rabbah and Simchas Torah was truly legendary — he exerted superhuman eff ort in the hakafos until sundown — and he was so weak that he had to rest his legs on the corner of his couch as he leaned back with his hat tilted on his head.

“I handed the Rebbe my kvittel in which I was mazkir our young child. He studied the kvittel and looked up sadly, saying,‘Vus ken men vissen? What do we know?’ Now this was a Rebbe who, a while before, when I was mazkir a woman who had suff ered a stroke, R”l, the Rebbe waved his hand, saying, ‘Es iz gurnisht — It’s nothing.’ He could wave away a stroke victim


“WHEN OUR SON STOPPED DEVELOPING AND LATER ON STARTED REGRESSING WE DID NOT KNOW WHAT TO THINK.”Testing done at the lab.

20 July 22, 2015

and say that it will be fi ne — and it was — and here, with a child who was regressing and for whom the doctors showed little concern, the Rebbe had nothing to say! We were devastated!

“We ran from doctor to doctor, trying not to leave any stone unturned. The more the doctors seemed to show no apprehension, the more we were fi lled with worry and unease. When our child was about two, we went to a hospital to consult with yet another specialist. He stood with his team of interns around him, and when he saw the notoriously dreaded ‘cherry spot’ in the eye of our child (which is a symptom of Tay-Sachs) h e ran out of the room, leaving his underlings to give us the bitter news. It was the fi rst time I heard the words ‘Tay-Sachs.’ He couldn’t bear to break the news to us. A mentchliche doctor…,

“Our lives changed from one of worry and nervousness to the unfathomable pain of caring for our disabled little boy. Not too much later, Hashem granted us another child. Our happiness was short-lived when we suspected the unthinkable. Without prior proper diagnosis, we were destined to nurture and become attached to our precious little child without knowing if she too would follow in her brother’s footsteps.

“And so it was…. We cared for and cherished our newborn just like any proud parent, not seeing any warning signs, since they only appear later. But soon enough we noticed! The halt in progress and then the regression was all too familiar.... Our third child was, b”H, healthy. But the next two followed the same horrendous pattern! Their adorable fi rst few smiles … their innocence … the fi rst few milestones … all shattered

our hearts more and more, for we were awfully afraid of the unknown. We were frightened of each passing day.”

Strength and Yeshuos From the Tzaddikim “It was bitter. But what is a Yid to do? “We made the decision to keep our son at home for as long

as possible. We also continued building a family, throwing in our lot with Hashem and davening that He would grant us healthy children. It took enormous strength to maintain our emunah and bitachon through those trying times. And indeed we did merit having healthy children too, burech Hashem.

“An eitzah that was helpful to me, and I would recommend it to many people today: I would learn, and still do, the entire Be’er Mayim Chayim (of the holy Rav Chaim of Chernovitz, zy”a, author of Sidduro shel Shabbos, who is buried in Tzfas in the vicinity of the Arizal) on each parashah. The holy words of this giant of Chassidus, and others, truly gave me strength.

“And then there were the kivrei tzaddikim. “This was 35 years ago. There were no fancy, organized

tours to Europe. But I felt drawn there, to the graves of the tzaddikim. I needed to pour my heart out, and I needed a big yeshuah after undergoing such heartrending experiences. B’chasdei Hashem, over the years, I did merit many yeshuos following the many trips that I made to kivrei tzaddikim.”

Reb Yosef recalled: “Today, the tziyun of the holy Rav Yissachar Ber of Radoshitz is a great source of yeshuos for many, but back then when I began traveling to Poland in the ’70s, its location was unknown.

Israeli headquarters 15 years ago.

216 Av 5775

Having perused the sefer Sabba Kadisha, which expounds on his greatness, and the miracles people had merited by coming to his tziyun, I felt drawn to this tzaddik, and so I resolved to search for his kever.

“But where is Radoshitz? (This was before the days of Google Maps.) I went to see the Sadovner Rav, zt”l [Harav Yisrael Sekula, who had a shul on Fiftieth Street in Boro Park], who was originally from Poland. The Rav took out a map, and began looking at it, and his tears welled up and began poring onto the map. He explained: ‘Look at this map. Every speck of this landscape hummed with Jewish life. How can I not cry?’ He pinpointed the location, and with this information in hand my search began. I traveled to Radoshitz, and for seven years I would go to the site of the cemetery — which looked like nothing more than an overgrown fi eld — but could not locate the grave.

“Each year I would return there, yet each year I was unsuccessful. But on my seventh visit, my good friend Reb Mendel Reichberg, z”l, who was the trailblazer in regard to visiting kivrei tzaddikim in Eastern Europe, advised me to speak to a friend of his who was in Poland at that time. He was fl uent in the language, and would be able to help us in our search. After he spoke to many of the elderly locals, one of them began pointing to a certain area, shouting ‘Kvittu, kvittu.’

“It turns out that the word kvittel is derived from the Polish word kvittu, which means ‘paper.’ He was trying to tell us that people would come from all over to bring kvitlach to this site, which was indeed the burial place of the holy Radoshitzer. We anxiously started digging around the site until we discovered the foundation of the ohel. When I returned to America, I confi rmed my fi ndings with the Voidislover Rebbe, who was a grandson of the Radoshitzer Rebbe and was named after him.

“This was the beginning. This kept me going. We saw great salvation through davening at the kevarim of tzaddikim, and if I’m allowed to say this, it is these zechuyos that have lent a special siyatta diShmaya to our work over these three decades.”

The Historic Pledge: ‘Never Again’Caring for children with Tay-Sachs is daunting and

excruciating. In a nutshell, the child is born with no ability to produce an enzyme that is responsible for breaking down fatty acids that accumulate abnormally in cells, especially in the nerve cells of the brain and spinal cord. During the fi rst period of time after birth, some of the enzyme is still retained from the mother. As time goes on, the enzyme gets depleted, and thus, the child starts to deteriorate, loses mobility and degenerates progressively. This is almost unbearable for parents to watch.

Reb Yossel related a little of what it was like to care for four Tay-Sachs-affl icted children, and the terrible emotional pain he endured while standing beside them in their suff ering.

“When I would walk through the door, my son would recognize me but, unlike any other child his age, he was unable to show his excitement. He was not capable of running over to give me a warm hug, nor was he able to communicate with words. This caused him to become tremendously agitated, breaking my heart into a million pieces. There is nothing as horrible as watching one’s child deteriorate in front of you.

“It began with fl oppy muscle tone, then he couldn’t swallow, and soon it progressed to seizures, paralysis, mental retardation and blindness. Eventually, it became too much for my family and me to care for our son, thus throwing us into the agonizing position of deciding to fi nd other arrangements for his care. Eventually we found a kindhearted Yiddishe family who took him in and cared for him in his fi nal years.”

Reb Yossel continued, “There were hundreds of families like mine who suff ered unimaginably as a result of Tay-Sachs. With each child that was born, there was renewed anxiety, and new questions, but they did everything possible to hide it all, lest people would not want to make a shidduch with their normal off spring. In fact, I knew a family in which two brothers had grandchildren with Tay-Sachs and each was unaware of his brother’s plight.”

Back in the ’70s, despite not knowing what, if anything, could be done by way of prevention, Reb Yosef was willing to face up to his nisayon. Constantly on the lookout for information, he helped anyone in the community who shared this travail. “It came to my attention that a shidduch was being proposed for someone in my family with a girl from another family that had a child ill with Tay-Sachs. Anyone who knows anything about genetic diseases will know that a situation like this may turn out to be a catastrophe — and I was not going to let it occur. I was panic-stricken, because I


Drawing blood for the tests.

22 July 22, 2015

understood what this meant. I fi nally persuaded them to go and ask the Satmar Rebbe for his opinion.

“The Rebbe was already not well. He looked up and said in Yiddish, ‘I don’t understand the question. Something that can be avoided, why not avoid it?’ He repeated this three times, astounded at the question. Needless to say, I had a good advocate for my cause,” recalls Reb Yosef.

“Our fourth child who endured the terrible disease was born on Purim of 1982 and was niftar two years later, on Purim of ’84. Experiencing the heart-wrenching pain yet a fourth time, I was determined to do something about it. I became acquainted with the physician who had diagnosed and cared for our son at Mount Sinai, and through him I began designing a plan, one that turned out to be the fi rst draft for what is today Dor Yeshorim.

“There was a test in existence that could detect whether a person is a carrier of the Tay-Sachs gene. However, the test was not utilized by our community as it focused on testing individuals who were already married. What would an observant couple do in the event they found out they’re both carriers? But, we thought, what if the same testing could be performed before marriage?

“Yet it wasn’t so simple. At the time, many in the community held the view that testing was a violation of the tenets of bitachon. In addition, they feared that once their carrier status was revealed, no one would want to make a shidduch with anyone in their families. In particular, unbelievably,

family members of aff ected children were vehement in their opposition to testing. The Gedolim were concerned too; they feared that revealing carrier status could cause unnecessary stress and anxiety and cause more harm than good.

“Yet, when I realized that there might be hope on the horizon and that there was a possibility for detection and prevention, I was determined to make it work. And so, I made a promise: I would do everything humanly possible to ensure that not one more Yiddishe kind would know the suff ering that we have endured!” recalled Reb Yosef emotionally.

Rabbi Ekstein, with a few dedicated askanim, countered the objections to widespread screening with a proposal for a community-based program that could provide absolute confi dentiality to those tested. The novel structure of the Dor Yeshorim program allowed all young couples considering marriage to be protected from the risk of having a child with Tay-Sachs disease, while also protecting the identity of carriers in the community.

“And so I began seeking the advice and support of the Gedolim and spreading the word among family and friends.”

The Gedolim of a Generation Ago“Support and encouragement from the Gedolim came

soon and emphatically, and we called many a meeting with Rabbanim. Having their backing and guidance at the time was crucial, since people were still very confl icted. The Gedolim struggled to fi nd the proper balance in the approach

Israeli headquarters 15 years ago.

“I MADE A PROMISE: I WOULD DO EVERYTHING HUMANLY POSSIBLE TO ENSURE THAT NOT ONE MORE YIDDISHE KIND WOULD KNOW THE SUFFERING THAT WE HAVE ENDURED!”

236 Av 5775

to testing to ensure that it would indeed resolve the issues and not bring harm to those it was seeking to help.”

Now, 30 years later, Reb Yosef marvels at the foresight and breadth of those great Rabbanim. He related that Harav Moshe Feinstein, zt”l, in his responsum on the issue of testing and how it should be done, wrote in a way that indicated his deep and clear understanding of this issue decades ago, before we knew very much about it, and when the science behind it was not yet established in this fi eld.

In what would become the strongly held policy of Dor Yeshorim, Rav Moshe wrote that carrier status should not be revealed to people taking the test. It would place an unnecessary psychological strain on them. They may think they can handle knowing their carrier status, but people at this stage in life are not mature enough for this. In later years, in what would come as close to an endorsement as possible, Rav Moshe wrote: “Dor Yeshorim, which functions in accordance with my previous ruling…”

“The Gedolim understood the common person, and understood how to bring Halachah to them in a way they could absorb. Some people think that the Satmar Rebbe, zy”a, was an extremist, but whoever was privileged to be in his dalet amos saw a man full of compassion who overfl owed with ahavas Yisrael and who took everything, the whole person, into account when rendering a halachic decision,” observed Reb Yossel.

The Call From ManchesterAnother great source of support and guidance was, as Reb

Yossel describes it, “the call from Manchester.” Harav Yehudah Zev Segal, zt”l, the great alumnus of the Mir in Poland, and Rosh Yeshivah in Gateshead, called Reb Yosef one day to request that Dor Yeshorim add another test to their current range.

Speaking of the rulings that those Gedolim set forth, Rabbi Ekstein said, “Over the years some have sought to question our policy of confi dentiality — keeping the ‘carrier status’ secret, even from the people themselves. It should be enough to say that this is the way the Rabbanim of the time, and of today, have seen fi t. But I present to you the following:

“One in four people carries the mutation of a genetic disease that we test for. This means that 25 out of 100 individuals walking around in our communities, respected mechanchim, Rabbanim, baalei batim, askanim and your average Yid, have a 25-percent chance of carrying a disease mutation, which, if he marries another person who happens to have the same mutated gene, risks having one out of four of their children stricken with the disease. But there is nothing wrong with them, and they can marry anyone else as long as the other person does not carry that gene, i.e., they are compatible (as are 99 out of 100 couples).

“Now, suppose that somehow this most sensitive information of carrier status leaks, and it becomes known that So-and-so is a carrier of a disease: Can anyone say with a shred of honesty that this will not aff ect shidduchim for that person?

Can one fathom the extent of the damage that would be done to the entire community should this wall be breached? This would in essence create a “sub-class” in Klal Yisrael, in which 25 percent of the community would face severe diffi culty in getting married, chas v’shalom!”

It is just such a catastrophe that the holy Gedolim foresaw all those years ago when they implemented this system, and it is the holy mission of Dor Yeshorim to uphold it in the most stringent manner. The information is never revealed — not even to the Dor Yeshorim staff ! Rather, they deal only with a sophisticated number system.

‘It’s Dor Yeshorim’s Daughter’This international organization, which today facilitates close

to 25,000 compatibility answers per year, was begun using one telephone and one handwritten ledger — with Reb Yossel and his wife (and a handful of volunteers) serving as the secretarial facilitator, the liaison between the laboratory and the families — and anything else that was required.

“People would call our home phone for anything related to this work. Once, my young daughter picked up the phone. To the caller who asked, ‘Is this Dor Yeshorim?’ she innocently replied, ‘No, it’s Dor Yeshorim’s daughter,” Reb Yosef related with a smile.

This anecdote, one of many that fl owed from Reb Yosef as he reminisced, is perhaps a greater indication of the wholehearted dedication and mesirus nefesh with which this organization was started than about the cleverness of his young daughter. “It consumed us,” he said, “and it still does.”

‘Learn From This Beard’ Next the task was to begin changing the public’s perceptions

and convincing people to abandon their misgivings. Persuading people to be tested and to go along with Dor Yeshorim was a most challenging endeavor. It presented unique challenges within each community, within the various sectors of Ashkenazic Jewry, and within each city and country.

“At that time I would go from community to community, yeshivah to yeshivah, and from school to school, imploring


Rabbi Ekstein in the lab.

24 July 22, 2015

young people to be tested. People were afraid of the unknown. The conventional wisdom of the time was that we were all better off not knowing. My job was to disabuse them of that idea and explain that with time, if we attack this properly, we can eliminate these diseases,” he recalled.

“There was one specifi c community which I had diffi culty getting into. I sent them letters, and I called them many times, but I wasn’t getting through. Finally I approached a Rav from that community and asked him to allow me to say a few words to the bachurim. I walked into the yeshivah and said to the bachurim, “You see this beard? It is white because it has been through a lot. You don’t have to go through what I went through. You can be yoitzei with me [benefi t from my suff ering]. Learn from this beard … have yourselves tested!”

Incidentally, a bachur from that yeshivah approached him a few years later and told him that he had neglected to

be tested. He had not taken the issue seriously, thinking it wouldn’t happen to him. Now, after losing one of his children to Tay-Sachs, R”l, he fi nds himself in the horrifi c position of fi nding out the hard way that he and his wife are both carriers.

“There was nothing I could do for him, though my heart bled for him,” recalled Reb Yossel. The early history of Dor Yeshorim is full of such anecdotes about people who did not heed the call of this “Paul Revere” of Jewish genetic diseases and later suff ered the dire consequences. But ultimately, baruch Hashem, our community as a whole adopted his mission.

If there is one basic idea that can describe the drive that Reb Yossel feels in this work that is now three decades old, it is this: “Learn from this beard.” Part II will appear, iy”H, next week.

Anatomy of a Gene Genes dictate everything about the human being; from

the color of a person’s eyes, skin, and hair to inherited health conditions, and everything in between. When a change happens in one’s genetic makeup, it dictates changes in the person’s physical being. This “change,” or interruption in the regular sequence of the gene, is called a mutation. Each specifi c mutation dictates a diff erent genetic condition or disease. This mutation, or abnormality, is transmitted to one’s children.

Mendel’s Law of Inheritance, named for Gregor Johann Mendel, the 19th-century Austrian scientist who founded the modern science of genetics, states that one single gene mutation can serve as a carrier for a disease. A carrier for a recessive genetic disease has a mutation that lies dormant, having no impact on the individual’s health unless it is combined with another mutation of that same gene.

When both members of a couple are carriers for the same disease, there is a 50-percent chance that the father will transmit the defective, or mutated, gene, and

there is a 50-percent chance that the mother will transmit it. Should both parents transmit that defective gene, their child has a 25-percent chance of being born with that disease — one in four children!

So when we can determine that one of the parents is not a carrier, it will not be possible for their children to have that disease. Their child may still carry the defective gene, but will not have the disease. The mission of Dor Yeshorim is to ensure that two carriers of the same disease-causing mutant gene will

not marry. While the defective gene may continue to be transmitted for generations, there will never be two of the defective genes transmitted to one child.

Unaffected“Carrier”

Father

Unaffected“Carrier”Mother

Unaffected1 in 4 chance

Affected1 in 4 chance

Unaffected “Carrier”2 in 4 chance

R R rR rR rr

rR rR

256 Av 5775

PART II


One Man’s Life’s Mission

42 July 29, 2015

Reb Yosef Ekstein

Dor Yeshorim has succeeded beyond the wildest dreams of its founders. “When I began,” Rabbi Yosef Ekstein said, “I told myself that my greatest goal was to prevent 20 percent of Tay-Sachs births. The only explanation for the unbelievable success and universal acceptance of the Dor Yeshorim

program in Jewish communities throughout the world — not a simple accomplishment — is supernatural siyatta diShmaya, the guiding Hand of Hashem constantly throughout these years. Without this siyatta diShmaya we could not have accomplished any of this.”

This was validated with the tremendous milestone of the offi cial closing of the Tay-Sachs ward at Brooklyn’s Kingsbrook Jewish Medical Center, an event that served as unequivocal proof of the historical impact of this one man’s mission.

In a letter to Dor Yeshorim in 2008, Dr. Hua-Chin Chen, the director of Pediatrics at Kingsbrook who was in charge of the Tay-Sachs ward, wrote: “Dear Rabbi Ekstein, We have met many years ago, and I just wanted to write you a fi nal chapter regarding Tay-Sachs disease. As you know, Kingsbrook Medical Center had one of the largest Tay-Sachs wards…. Through your aggressive genetic testing system to prevent this serious medical problem, we have eliminated this disease….

“Our last Tay-Sachs patients passed away fi ve years ago and there have been no admissions since. I am grateful for your success and the support of the Jewish communities.”

Accuracy and reliability The hallmark of an organization that has earned the trust

of the Jewish community worldwide has been the ability to rely absolutely on the results of their tests. Getting there was a long journey.

The initial detection of genetic diseases was done by an enzyme assay, which would measure enzymatic activity in the serum or white blood cells of an individual. Tay-Sachs disease is caused by the absence of a vital enzyme in the gene called hexosaminidase (Hex-A). A person without the enzyme will have a fatty substance accumulating abnormally in cells, especially in the nerve cells (neurons)

of the brain and spinal cord. This ongoing accumulation leads to the destruction of these neurons, which causes

Tay-Sachs. We all have two copies of this gene. If either or both Hex-A genes are active,

the body produces enough of the enzyme to function normally.

Carriers of Tay-

Reb Yosef Ekstein

BY YITZCHOK SHTEIERMAN

In Part I of this article Reb

Yosef Ekstein related the

unimaginable suff ering he

and his wife endured in having

four Tay-Sachs babies. Thirty

years ago the science of

genetics was not as developed

as it is today, and the Jewish

community tended to hide the

occurrence of genetic diseases.

Rabbi Ekstein channeled his

suff ereing into the formation

of an organization that has

practically banished Tay-Sachs

and other genetic illnesses

from our lexicon.

4313 Av 5775

Sachs have one copy of the inactive gene along with one copy of the active gene; they are healthy and function normally. However, a child who inherits two Hex-A genes (one from each parent) produces no functional Hex-A enzyme and develops Tay-Sachs disease, R”l.

There were many drawbacks to using this method of detection because the borderline in determining whether someone is a carrier or not was volatile. Results from carriers and non-carriers overlapped, and were sometimes misleading. In addition, there were cases of people who were on certain medications (or had certain health conditions), which would distort the test results. This resulted in many cases where retesting was necessary, and results were often inconclusive.

A much more accurate detection of a genetic disorder is achieved by evaluating the gene itself by DNA screening. Geneticists will gather a number of aff ected volunteers for a study each of whom are carriers of a particular genetic disease. Taking a sample of their DNA, the scientists study it, seeking a common genetic mutation among all carriers of that disease. Once they identify the correct mutation, they can then screen others for these same mutation and know with much greater certainty and scientifi c precision whether they too are carriers of the disease.

“DNA screening was a relatively new phenomenon developed a few years after we started testing. So the latter method, biochemical detection, was the accepted approach.”

Leaving Nothing to ChanceReb Yosef recalled the early days, when the hospital which

he was working with at that time had a long turnaround time, and people were not willing to wait that long before concluding shidduchim. So he decided to split the blood samples. He sent away some to the laboratory at another prestigious university hospital to see what they would answer, while cautiously keeping his connection at the fi rst institution. When the results came back, he compared them and they alarmed him greatly: there were 18 discrepancies in the results! At a loss, he sent the same blood samples back to each of the labs, and lo and behold, the second institution returned the same results, while the fi rst hospital now also provided the correct results.

Evidently, the director in charge of the hospital lab thought he could pull the wool over the eyes of this novice with his beard and peyos. He attempted to convince him that it was possible to be a carrier one day, and not the next.

“This was very distressing and confusing for me, and I knew we had to do something about it,” Reb Yosef recalled. “I had a mission. And that mission was to ensure that no one in our community would ever suff er with a genetic disease. And so ‘almost certainly’ did not count. I knew I had to do everything in my power to make the system of testing, as well as all the procedures involved, as foolproof as possible.”

This early trial infl uenced the way procedures have been


A mass screening in Boro Park this year.

44 July 29, 2015

implemented and still function at Dor Yeshorim to this day: The entire screening operation, from beginning to end, is under very tight control. For every few blood samples submitted to the lab for testing, one of them is a control sample — previously tested. When the results come back, the results of those samples are compared to the results that were given previously to ensure that exact results are received each time.

The sophisticated system at Dor Yeshorim checks and rechecks, and keeps track of these controls to make sure that the lab is returning consistent results. Codes are given, and multi-tiered and redundant controls are all in place so that chas v’shalom not one wrong answer is ever returned to a family. Each piece of information in the entire

process is entered into the system by two separate individuals, and any discrepancy must be resolved

by yet another person. An employee cannot enter any data before he has undergone rigorous training.

B’chasdei Hashem, now, decades later, withclose to 400,000 individuals tested, and close to

300,000 compatibility requests for shidduchim on record, Dor Yeshorim sets an industry standard as it continues to operate a foolproof system with utmost diligence and accuracy.

Nevertheless Dor Yeshorim does not rely on technology alone. “Our policy is that for each answer we give, there are two diff erent people who verify the computerized results. Do I go beyond the call of duty? That would depend on whom you ask. The chairman of our medical advisory board, Dr. Edwin Kolodny, head of Neurology at NYU, once told me, ‘Rabbi, no one does this.’ A professor at a prestigious

hospital in Yerushalayim said to me, ‘One in a thousand is an acceptable statistic.’ But for Dor Yeshorim it is not: We thrive on trust, mutual trust with a community that entrusts their shidduchim to us,” asserted Rabbi Ekstein.

A Reciprocal Trust Speaking of trust, Reb Yosef explains that trust goes both

ways, and community members must conduct themselves with reciprocal trust. “This is something that the general public, especially shadchanim, must understand and respect.

“Often, we get calls from frustrated individuals, wanting the results immediately. What they don’t understand is that we have protocols and processes that have been developed during 30 years of experience — for their own good! This includes steps related to confi dentiality, and ensuring that the two numbers being checked indeed belong to the two people in question, and not someone else’s number. This is also why we will only give results to the phone number given at the time of screening. In addition, results will not be given to one party alone; if only one party calls, the other party will be notifi ed of the compatibility request, to ensure that the two numbers checked indeed represent the two parties involved in the shidduch.

“Occasionally we have instances where people don’t grasp the seriousness of carrier compatibility, and they call with numbers that are not theirs (either one that the shadchan erroneously gave them, or they unintentionally use numbers from a previous shidduch). Too many times, we receive compatibility inquiries with one of the parties not even aware of the shidduch. They certainly do not

“OUR POLICY IS THAT FOR EACH ANSWER WE GIVE, THERE ARE TWO DIFFERENT PEOPLE WHO VERIFY THE COMPUTERIZED RESULTS.” Dedicated

phlebotomists.

4513 Av 5775

realize the potential damage they can be causing. Baruch Hashem, with all our protocols in place, we catch these mistakes. People call us at the very last moment, when they’re under the stress of fi nalizing a shidduch. No amount of pressure can move our commitment to do our mission properly, a mission that is ultimately for their own good. This is why we urge the public to check numbers early in the shidduch process.”

A Changing Landscape With so much focus on the genetic

diseases aff ecting the Ashkenazic community, what about Sephardic Jews? “There are many factors that diff er in the nature of genetic diseases in the two communities.

“Although the diseases and mutations that Dor Yeshorim tests for are prevalent primarily among the Ashkenazic community, people who are not Ashkenazic can also be carriers of these diseases, although the carrier rate is lower. However, individuals of Sephardic decent may be carriers of diff erent mutations and other diseases prevalent in their community.” In addition, some people may not understand that if there is even one Ashkenazic or Sephardic ancestor anywhere in their lineage, they are at risk for both the

Ashkenazic and Sephardic mutations! “Thus, in Klal Yisrael today —

especially in Eretz Yisrael where marriages between Ashkenazim and Sephardim are common — people must be tested for both sets of mutations.” Indeed, Reb Yosef related that just the previous day, a girl whose father is Sephardic but whose mother is Ashkenazic called the offi ce. She had to be persuaded that she is just as much at risk of being a carrier of an Ashkenazic disease — potentially transmitted by her mother — and should she marry an Ashkenazic boy, she would be at risk for transmitting a disease.

Over the past several years Dor Yeshorim invested considerable

resources in researching and developing reliable testing methods for the genetic diseases that are prevalent in the Sephardic community. They now off er screening for an additional 13 illnesses in addition to the Sephardic mutations for which they have already been screening.

The new Sephardic disease panel is in the advanced developmental stages now, but is not yet ready to be implemented in standard tests. However, screening for these diseases can be ordered by special request by calling the Dor Yeshorim offi ce.


“NO AMOUNT OF PRESSURE CAN MOVE OUR COMMITMENT TO DO OUR MISSION PROPERLY, A MISSION THAT IS ULTIMATELY FOR THEIR OWN GOOD.”

U.S. headquarters from where calls are returned to places over the world.

46 July 29, 2015

Focused on the Individual Dor Yeshorim does not stop at basic carrier screening.

There are many families in our community who experience the devastation of having children succumb to rare genetic diseases that are not on the standard Dor Yeshorim panel. Understandably, they turn to Dor Yeshorim for help and guidance to prevent the recurrence of those diseases. This is an entirely separate wing of Dor Yeshorim, in which hundreds of thousands of dollars are invested each year. “We intensively investigate the family tree, testing up to four generations and researching the genes and mutations that produce those diseases, which can then allow us to arrange for preventive testing.”

At any given time, Dor Yeshorim is researching multiple diseases, which requires enormous time and eff ort, as well as funds needed to pay the laboratories and universities involved in identifying the origin of these diseases. All this is done with utmost dignity and confi dentiality.

Very often, through these eff orts, serious diseases that are found to occur in our communities then become part of the regular panel — which means that everyone going forward will be tested for carrying those diseases as well.

‘Why I Was Spared’Reb Yosef Ekstein was born in Budapest 1944.

“Those were terrifying times. The Nazis were advancing and the Hungarians were no angels either. You know, the Gemara says that the passuk in Tehillim, ‘Ki alecha horagnu kol hayom — We have been slaughtered all day for You, Hashem,’ refers to the mitzvah of bris milah. You can ask: Why, of all mitzvos, is this one that we were slaughtered for? I can tell you that my mohel was no longer among the living two days after performing my bris in Budapest. Yet I, an eight-day-old infant, was spared, and my parents managed to escape with me into Romania.

“My parents, who possessed tremendous emunah and bitachon, and were wholehearted, passionate supporters of Dor Yeshorim, would always tell me, ‘Yossel, you were spared for a purpose.’ And so I believe. The Eibershter spared me. He has decreed for me great pain, but I believe it was for a purpose, that of helping to eliminate pain from others, and I will continue to do everything to help His children for as long as He gives me the strength.”

Expanding the Test Panel In their quest to eliminate other genetic diseases, Dor

Yeshorim continuously seeks to replicate the success they have experienced with Tay-Sachs. The current panel of tests detects nine severe diseases that run the gamut of neurological, neuromuscular and metabolic diseases, to those aff ecting other parts of the body — all of which are debilitating, and very often fatal.

Dor Yeshorim initiates many research projects at a cost of tens of thousands of dollars, and organizes teams of clinicians, scientists and bioinformatics experts with the goal of identifying additional disease-causing mutations found in Jewish genes from diff erent ethnic groups. This research eventually results in new tests and the prevention of further tragedy in Klal Yisrael.

Dor Yeshorim has recently introduced a secondary, optional panel in which people can choose whether to be tested for another group of diseases that is not part of the standard panel. In the past, every time Dor Yeshorim added another test, many shidduchim were held up since the fi les needed to be updated. They therefore encourage people

to call them as early as possible (even before entering the shidduchim stage) to voluntarily request that their fi le be updated to include the optional panel of tests. All it takes is one phone call, because usually another blood sample is not necessary.

Rabbi Ekstein told us, “Just because a test exists for a particular disease does not mean that every member of Klal Yisrael should be screened for it. A careful evaluation of the disease, including how fatal and debilitating it is, is conducted before any additional test appears on the panel.

“If we test for a disease, but we are not confi dent enough that it

is reliable, we cannot in good conscience tell people that they are compatible based on such a test.

“We will only test for diseases that present serious health issues and for which there is no cure. Rather than being an organization that is here solely to test for a long list of diseases, we recognize that we are an integral part of Klal Yisrael’s shidduch process. And that is a weighty responsibility indeed.”

Robotics at work.

4713 Av 5775

winning the war against genetic diseases

Documents