Editor’s note: The devastating effects of Tay-Sachs disease, Familial Dysautonomia, and other genetic conditions are well known, especially among the special-needs community. Thankfully, organizations like Dor Yeshorim are working to eliminate genetic illnesses that plague the Ashkenazic and other Jewish communities. What follows is the story of a family that has first-hand experience with FD, r’’l.

Back in the 1970s, my parents were screened for the Tay-Sachs gene, and both were shown not to be carriers. My husband’s parents aren’t carriers, either. Some of my friends and acquaintances, however, have not been as fortunate. I know of two mothers who have each watched helplessly as two of their babies degenerated and died from Tay-Sachs. I have another acquaintance who has two children with Cystic Fibrosis. Friends of ours, Batya and David Berlinger, have a son named Tuli who suffers from Familial Dysautonomia. It is about Tuli and his family, who live in Jerusalem, that I would like to share some stories.

One of my earliest memories of Tuli was when his mother brought him to our home for a visit. He was a newborn at the time. She related how he was undergoing physical therapy for Erb's Palsy (paralysis of a group of muscles in the shoulder and upper arm) that was probably due to the midwife pulling on him during the birth process. At that time, no one knew that a darker cloud would soon appear over Tuli and his family.

While in New York for a wedding, Batya and David took Tuli, age 7 months, to a lung specialist at Mt. Sinai Hospital. The doctor suggested the possibility that Tuli had FD, and had a histamine test performed under Tuli's skin. The test was inconclusive. When Tuli was 11 months old, two doctors in Israel diagnosed him with FD.

In “Familial Dysautonomia Manual Of Comprehensive Care,” Dr. Felicia Axelrod of NYU describes the disease: "FD is a genetic disease which is present from birth. The genetic defect results in abnormal development of the nervous system, causing a decreased number of nerve cells. The nerve cells which are affected are those which control certain sensations and autonomic functions. The sensory nerve cells which are most severely affected are those responsible for pain, heat perception, and taste. Autonomic nerve cells control bodily functions which we take for granted. Some examples are sweating, swallowing, regulation of blood pressure and body temperature, and the ability to cry with tears.

"All children with FD have the same basic problems. Some children also have what are considered secondary problems—such as feeding problems, vomiting, poor growth, spinal curvature and lung problems."

Clinical manifestations of FD include an infant who, shortly after birth, has problems with sucking or swallowing. Other symptoms may be frequent unexplained fevers and slow motor and physical development. Respiratory infections are common. By the age of 1 to 2 years, feeding problems become less frequent, but they are replaced by the "dysautonomic crisis”--attacks of vomiting, fever, hypertension (high blood pressure), excessive sweating, and blotchy spots on the skin that last hours or days.

Some of the signs leading to Tuli's diagnosis were a bout with pneumonia at 5 months and FTT (failure to thrive). Following the diagnosis, Tuli's parents began gathering information about FD. Over the years, Tuli has had numerous hospitalizations.

Their next son, Matty, was born in December of 1991. He became ill with viral pneumonia and was hospitalized. His situation deteriorated despite the treatment and despite everyone's prayers. David heard about an unusual bracha (blessing) called a lachash (whispered prayer). An item of clothing from the ill person is brought to a rabbi knowledgeable in lachash. The rabbi gives a blessing and the person who brought the article of clothing cannot talk until the item of clothing is put on the ill person. The lachash takes a great deal of energy out of the rabbi.

My husband and another friend went late at night with a piece of clothing from the very ill infant Matty to a certain rabbi in Jerusalem. Meanwhile, Matty's parents waited nervously for the two to return. Batya related the scene to me when I interviewed her for this article, "I was waiting near the elevators when the door opened and Abe came out. He spoke to us. I knew then that our baby Matty would not recover. It turned out that when my husband and the second person came to the rabbi's home, his wife said that he was not feeling well and he could not see them.” Sweet little Matty died at 4 months of age. Since an older sibling, Tuli, had already been diagnosed with FD, and since Matty had become ill with viral pneumonia, the doctors speculated that Matty also had FD.

On the day of Matty's, z"l, funeral, Batya asked that I give her a ride to the cemetery. It is a day that is forever ingrained in my memory. Seeing Matty being lowered into the ground was one of the most tragic scenes I have ever witnessed.

Their next son, Yosef, was born during Pesach of 1994. David waited outside of the operating theater with vials, in order to have blood samples taken from the baby as soon as possible. The blood samples were sent by Federal Express to New York. Family and friends waited with trepidation for the test results. Would he also be diagnosed with FD? Three weeks later, the results came back. No, Yosef was not affected Boruch Hashem. The same is true for Ariel, who was born on July 9, 1997, and for Shlomo, who was born on May 17, 2000.

When Tuli's older brother, Pini, was 9, he would sometimes come to our home on Shabbat to play with his best friend, our son Naftali Yehuda. Not infrequently, he would bring his younger brother, Tuli. I remember being so impressed with Pini's ability to feed Tuli liquids through his gastro-tube. (At 15 months, Tuli had surgery for a gastrostomy, the surgical creation of an opening through the skin of the abdominal wall which allows tube feeding, and a procedure called fundoplication, a tightening of the lower end of the esophagus, making it more difficult for vomiting to occur.) When Pini went off to yeshiva high school, Yosef had to learn some care procedures for his older brother.

I remember running into the family at the Jerusalem Botanical Gardens during Sukkot one year. There was Tuli in his wheelchair, with his oxygen supply attached. I felt sad on one hand, but I was also so impressed with the family taking on the challenge of a Sukkot trip with a very sick child.

Tuli attended Gan Harmony, a nursery school in Har Nof that integrates children with special needs together with "regular" children, from age 2 to 6. Following Gan Harmony, he attended a rehab nursery in Jerusalem that was not religious, although half of the class was religious. After that, he started learning in Limudai Hashem, a school for special education. He was put on oxygen in 1999 due to asthma. Since then, it has been his constant companion.

On Tuesday, April 1, 2003,when Tuli was 12-and-a-half years old, he was hospitalized at Hadassah Hospital Mt. Scopus due to convulsions. By Wednesday, he seemed to be improving, but on Thursday, he had a severe asthma attack and was transferred to the intensive care unit. On Shabbat, he had to be intubated. On April 8, he was transferred to Hadassah Hospital Ein Kerem, where he spent ten weeks in several intensive care units.

My husband and I were in touch with the family by phone and e-mail. The situation seemed grim. In an e-mail that David sent the morning of Thursday, May 1, he wrote, "Unfortunately, things haven't changed much and if anything, they are worse. Tuli has now been on a respirator for over four weeks, and the hope of getting him off is dropping. When he isn't drugged he can respond to questions, but most of the time, he is heavily sedated. Batya is still at his side, unwilling to leave, and I attempt to deal with the rest of the family, keep her spirits up, and everything else. At this point, it is up to the Man upstairs.

"Please pray for Rafael Naftali Yehoshua ben Batya. Say tehillim, learn mishnayot or whatever, give some charity and /or do a few extra mitzvot in his name."

I "happened" to choose Thursday, May 1 to visit Batya.  I wrote "visit Batya," because I knew that Tuli was unconscious due to his sedation.  Before coming to visit, I tried to think of what to bring. I decided that I would bring the book “Index to Sefer Tehillim” by Rav Yonason Alpren, which guides the reader as to which chapters of tehillim are to be said on relevant occasions.  This would be food for the soul. I also bought some whole-wheat cookies—food for the body.

The ICU at Hadassah Ein Kerem was familiar to me.  I had served as a social worker in pediatric surgery back in 1982 and over the years, to my sorrow, I had visited people who were in the ICU.  As I entered the unit, I searched for Tuli among the adults hospitalized there.  I found Tuli's bed.  At first, I thought I glimpsed tefillin on him. "No, that can't be,” I thought to myself.  “It must be the various black tubes to which he is attached."  Just then, Batya greeted me.   Since I was unaware of the e-mail that David had sent, I was a bit surprised to see Tuli's father and his paternal grandparents.  Tuli's sherut leumi (national service) volunteer, Atara, was also there.  I looked again at Tuli and asked, "Is that tefillin on him?"  Batya said that even though Tuli was not yet 13, they knew how much he had looked forward to putting on tefillin.  That day, David put tefillin on Tuli for the first time.

During my interview with Batya, I learned that the doctors had tried various drugs to open up Tuli's air passages, but without success.  Finally, they decided to administer isoflurane--a gas that cannot be given for more than three days. The treatment started on Wednesday, April 30, and the doctor informed Batya that the next day, at 12:30 p.m., they’d stop it. He told Batya that if the isoflurane was not effective, there was nothing else to try.  On Thursday morning, Batya called her husband, her sister, and her in-laws, who brought the tefillin.  The tefillin had been written by a rabbi who told Tuli's grandfather that Tuli would reach Bar Mitzvah age.

Batya asked Atara to call her friends in Z’fat and request that they go to the graves of whichever tzaddikim  they could and daven for Tuli. Some of them went to Meron to pray at the grave of Rabbi Shimon Bar Yochai.

The isoflurane was stopped at 12:30 p.m.  Batya and family kept their eyes on the machine that measured Tuli’s oxygen rate.  "We stared at the clock and we stared at the monitor," Batya related.  An hour passed with little change in Tuli's oxygen level.  Another hour passed with little improvement.  An interminably long third hour passed with little change.  After four hours had passed, Hashem delivered the sought-after miracle.  Tuli's oxygen rate came up to the normal level for someone with his history of FD. 

"Tuli's oxygen saturation level showed that he was out of the woods," his mother related to me.  "From that day on, we continued putting tefillin on Tuli."

Tuli was out of the woods, but he still had a long road ahead.  The doctors then considered performing a tracheotomy, an operation that involves cutting into the trachea and inserting a tube, to help wean Tuli from the intubation and respirator.  Within less than a week, Tuli underwent surgery without any complications.  In the beginning of June, he had a permanent IV insterted and he was transferred successfully to a small ventilator.

Despite this small victory, the misery of hospitalization and surgery began to take its toll on the young patient. Tuli had thought that after the tracheotomy, he would be able to go home.  When he found out that this was not so, he became very depressed.  The doctors treated his depression with various medications, and after a while, Tuli returned to his usual, smiley self.

While hospital staffs were planning Tuli's transfer to Alyn Rehabilitation Hospital, the Berlingers started to plan for Tuli's Bar Mitzvah in July.  After two-and-a-half arduous months at Hadassah, Tuli was transferred to Alyn Hospital.

I visited Batya and Tuli a number of times at Alyn. Batya spoke about various rehab processes in which Tuli was engaged.  He was given a special apparatus to place over his tracheotomy so that he could speak.

Batya spoke about how appreciative she and her family were of all the help that friends and family provided.  For the first three weeks at Hadassah, she never went home.  For the first month at Alyn, someone was always with Tuli.  Friends and neighbors cooked meals, did laundry, babysat, and did other things that the Berlingers needed.  Without all of the chesed, the acts of kindness, the family could not have managed.

When I asked Batya about whether Tuli gets counseling, she said that he does not want to talk about having FD.  "He apologizes every time he goes to the hospital," she told me.  That statement is a glimpse into his sweet natured nature.

The blessing of the rabbi who had written Tuli's tefillin became a reality.  On July 14, 2003, Tuli and his family greeted guests in the hall at Alyn Hospital.  Not only was it a Bar Mitzvah celebration, but it was also a celebration of Tuli’s improvement enabling him  to sit up in a wheelchair and attend most of the affair.

Among the speakers was Doniel Kahn, a friend of the Berlingers (and ours), who volunteers weekly with Tuli.  He had been learning mishnayot Megillah with Tuli, and they had finished the night before Tuli was hospitalized.  At the celebration, Doniel gave a short talk about the learning and about Tuli.  (David and Pini had finished all of mishnayot for Tuli.)  Batya spoke as well, and I doubt there was a dry eye in the hall.  Her father rose to speak, but he was overwhelmed with emotion and could not continue.

Medical staff members from the various hospitals came to offer a mazel tov. Batya thanked them and everyone else who helped them and continue to help them.  She thanked Hashem for allowing them to celebrate Tuli's reaching the age of mitzvot. 

Towards the end of the evening, Tuli was wheeled up to the microphone and he said a few words to everyone through his tracheotomy.  At 10 p.m., he left the guests that still remained and went up to his ward.  It was a very special event!

 Until a decade ago, most people with FD did not live past their eighteenth birthday, but life expectancy has been extended due to improved treatment.  FD victims can now expect to live well into their 40s or 50s.  At present, there is one FD patient in Israel who is 52 years old.  Out of the approximately 120 individuals with FD in Israel, 40 of them are above the age of 18.

Although there is no known cure for FD, there have been major breakthroughs. In January of 2001, two different medical teams discovered the gene responsible for FD.  Now, doctors can carry out universal testing to determine who is a carrier of FD and to focus on better treatment, including the development of gene therapies.

As to the theological question--why does Tuli have FD--his mother says, "Some people have said to me that perhaps Tuli is ill so that people can do acts of chesed.  We don't know why Tuli has to suffer.  What keeps me going is emuna, faith.  Faith that Hashem has a master plan and tests only those He knows can survive.  'Tzadik Hashem b'chol derachov, v'chasid bechol ma'asav.' 'Righteous is Hashem in all His ways, and kind in all His deeds,'" confides Batya.

Dor Yeshorim’s main office number is 718-384-2332, and its hotline is 718-384-6060.   For more information on FD, visit www. familialdysautonomia.org.