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ike Down syndrome, Prader-Willi syndrome (PWS) is a non-hereditary genetic disorder that results from a chromosomal abnormality.

Unlike Down syndrome, which affects one in 700 babies, PWS is rare, affecting only one in 15,000 babies.

My daughter Ruchama is that one in 15,000.

My wife, Chana Ella, was trained in special ed and worked in that field, so she had plenty of exposure to the special-needs population. I, on the other hand, knew nothing about children with special needs, and I certainly didn’t expect to have one. My main concern, leading up to Ruchama’s birth, was how we’d manage with another child. We had been married only four years at that point, and we already had two children, a son who was not yet three and a daughter who was just a year and a half. So I approached the birth with considerable trepidation.

Ruchama seemed perfectly normal at birth, scoring well on the Apgar test. But while Chana Ella and I were busy calling our relatives with the good news and accepting their mazel tov wishes, a nurse came in and gently informed us that our baby been placed in the special care unit because she had hypotonia, or low muscle tone. She couldn’t suck, and her cry was weak, almost like a broken tape trying to play.

From Paul Kimball Hospital in Lakewood, New Jersey, Ruchama was transferred to the Children’s Hospital of Philadelphia (CHOP) for testing. “I hope they don’t find anything wrong with her,” Chana Ella and I kept telling each other. In our naïveté, we thought that as long as there was no diagnosis, our baby would be okay, even if she was floppy as a rag doll.

When Ruchama was ten days old, genetic testing revealed that she had Prader-Willi syndrome. Until that point, I was in a daze, not quite knowing what to make of all the tumult surrounding Ruchama. Once I heard the diagnosis, I thought my life would fall apart.

I had never heard of PWS, but when the doctors described its symptoms, I felt faint. Prader-Willi syndrome, I learned, causes intellectual impairment and motor deficiencies, as well as issues with endocrinology, the eyes, the respiratory system, and behavior. In infants, symptoms include low muscle tone, difficulty feeding, and slow development. Later in childhood, a person with PWS becomes constantly hungry, because the brain never gets the message that the person is full.

I drove from CHOP to Brooklyn, to share the grim news with my parents, and on my way, I stopped at the home of my rebbi.

After explaining to my rebbi what PWS is, I told him that five percent of people with PWS are completely normal, while five percent are devastatingly retarded. The other 90 percent are somewhere in between.

“Five percent is a huge number,” he reflected. “Think about it: What are the chances of you, Yisroel Meir Broyde, being born a Jew? Jews are a tiny fraction of the world’s population. Once you’re born a Jew, what are the chances that you’d be born into a frum family? Even then, what are the chances that you’d attend yeshivah and become a ben Torah?

“You’ve beaten the odds in your life already just by virtue of your being Jewish, frum, and a ben Torah,” he concluded. “So don’t belittle your daughter’s five percent chance at a normal life.”

I was learning in kollel at the time, but my rebbi told me that missing yeshivah shouldn’t even be a consideration when it came to my daughter’s care. “If your daughter is in the hospital, then that’s where Hashem wants you to be,” he said.

That instruction framed the challenge for me in a new and empowering way: my life’s mission, now, was to do whatever I could for my daughter.

Taking my rebbi’s words as our marching orders, my wife and I decided that instead of wallowing in self-pity, we’d jump right into Ruchama’s life and help her in any way possible. In retrospect, that was the best therapy for getting out of our misery.

When we shared Ruchama’s diagnosis with a certain relative, her immediate reaction was, “Don’t worry, I won’t tell anyone. You’re planning to keep it a secret, right?”

Our pediatrician echoed this sentiment, advising us not to discuss Ruchama’s condition with anyone. “You know how our community is,” he said. “And you have to think about what this will mean for your other children’s shidduchim.”

After discussing the matter between ourselves, however, Chana Ella and I decided not to hide Ruchama’s diagnosis. Why aggravate an already stressful situation with the added emotional burden of keeping a secret? We needed help and support from the community, and how would we access that without being open about Ruchama’s condition?

During Ruchama’s first year, we took her to countless appointments at CHOP, as well as to numerous therapies — 15 hours a week — to help her reach typical developmental milestones.

That year, we encountered nonstop medical issues, which would have been almost comical if they hadn’t been so difficult. Ruchama contracted RSV, a respiratory virus, and, at the same time, Chana Ella developed a kidney infection and had to be hospitalized. Shortly afterward, Chana Ella broke her leg. While this was going on, we were suddenly informed that we had to move out of our house. My widowed mother-in-law was also sick at the time — she passed away when Ruchama was six — and my wife felt constantly torn between her dying mother and her special-needs baby.

If not for all the chesed of our community, we would never have made it through. We received suppers for a long time, and, for a while, lunches as well. Volunteers from Lakewood’s Special Children’s Center would come at eight in the morning to feed Ruchama her bottle — a process that took hours, due to her feeding difficulties.

When Ruchama reached preschool age, she began attending SCHI, a special-education school in Lakewood, and participating in the Special Children’s Center’s after-school programs.

Having her home could be quite challenging, especially when the other kids were around, because she always felt hungry and was constantly on the lookout for food. Eating all the time would be problematic for anyone, but it’s especially hazardous for people with PWS, because they have a very slow metabolism and have to maintain a low-calorie diet for their entire lives to prevent obesity and the resulting health problems. We had to keep every morsel of food in the house locked up, but even so, Ruchama had to be supervised all the time to ensure that she wasn’t eating.

Once, we made the mistake of storing some sealed cases of hot cocoa packets where Ruchama could reach them. One day, Chana Ella found Ruchama covered in cocoa powder and the floor looking like a brown sandy beach. Another time, we found her sitting at the kitchen table, asleep, with her head on the table surrounded by crackers and a cracker sticking out of her mouth.

Any time we couldn’t provide adequate supervision, the Special Children’s Center was happy to have Ruchama overnight or for the weekend. When our fourth child was born, Ruchama, who was four at the time, stayed at the Center for almost a month. We were ready to take her back after two weeks, but the staff literally begged us to let her stay longer. “We have everything set up for her,” they said. “It would be a shame to let her go.”

Once, when we needed to send Ruchama away for Shabbos, she made a fuss about going away alone, so the Center invited her two older siblings to accompany her.

Having that kind of help available, always given graciously and with a smile, made the difference, for us, between coping and going to pieces.

Yet Chana Ella and I felt that we needed more than just physical assistance. The challenges of raising a child with PWS are unique and unremitting, and although we managed well with Ruchama overall, we found ourselves craving the support and understanding that can come only from people who’ve been through it themselves.

In our area, there are support groups for frum parents of children with Down syndrome, but to our knowledge, no such support group exists for frum parents of kids with PWS. While Down syndrome and PWS have some overlapping symptoms, the two are very different, and we didn’t feel that our challenges with Ruchama were understood by the parents of other kids with special needs.

For instance, Ruchama looks perfectly normal, which is a blessing, but one that poses its own set of challenges. Sometimes, she’ll be standing in middle of a room and someone will be trying to get by, but she won’t move, because her spatial awareness isn’t great. Or, people will ask her questions and she won’t answer, because she’s not so tuned in to her surroundings. Not realizing that she has special needs, people get annoyed and baffled by her behavior.

When she was a baby, we joined the Prader-Willi Syndrome Association (PWSA), a national organization based in Sarasota, Florida, that provides support to families of people with PWS. This organization, whose slogan is “Still hungry for a cure,” holds a retreat for parents of children with PWS every two years, and when we attended those retreats, we thirstily drank in the support of other parents who could completely relate to the challenges we were going through. But we didn’t meet any other frum parents there, and between the biennial conferences, we didn’t have a network of parents to turn to when things got frustrating.

One particular challenge that we had to navigate on our own stands out in my mind. Kids with PWS don’t produce sufficient growth hormone, and they have to take regular growth hormone shots so that they can reach a normal height. When Ruchama was very young, several studies were released showing correlation between growth hormone injections and sudden deaths among children with PWS.

In light of these studies, CHOP discontinued growth hormone for children with PWS. Concerned that Ruchama would not grow properly without the growth hormone, I consulted with specialists at two other prominent hospitals, and discovered that the medical community’s reactions to the study were mixed. One leading specialist told me that the children in the studies had all been obese and suffering from other medical issues, which meant that growth hormone injections could not be conclusively implicated in the sudden deaths.

Considering that the studies were inconclusive, we wanted Ruchama to continue receiving growth hormone. But CHOP’s endocrinology department, which administered the growth hormone, said they would continue the injections only if the pulmonary department gave its consent.

The pulmonary department said that they couldn’t give consent because Ruchama’s tonsils and adenoids were enlarged and needed to be removed. They referred her to the otolaryngology department for surgery, but the ENT specialists were afraid to put her under anesthesia because of her hypotonia. “Anesthesia relaxes the muscles,” they explained, “and that can be dangerous for a person whose muscles are in a relaxed state to begin with.”

Ruchama also needed surgery on her eye muscles, but the doctors at CHOP were not willing to operate on her because of the anesthesia problem. Rather than go along with this passive approach, Chana Ella and I took Ruchama to Boston Children’s Hospital, where we scheduled eight appointments for her in two days. The endocrinologist there said she’d be willing to administer growth hormone cautiously, while the pulmonologist felt there was no choice but to remove Ruchama’s tonsils and adenoids. The otolaryngologist agreed to perform the surgery if pre-op testing results were normal, and the anesthesiologist was willing to put Ruchama out on condition she remained in ICU overnight after the surgery for monitoring.

A month later, we returned to Boston for the surgery, after which the doctors at CHOP agreed to reinstate her growth hormone shots. Later, I heard from an endocrinologist there that the Broydes had broken CHOP’s ban on administering growth hormone to kids with PWS.

It was a lonely victory, however. We knew no one else who was going through a similar dilemma, no one else who could guide us from firsthand experience or benefit from all the knowledge we had amassed in the course of advocating for our daughter.

Once, Chana Ella was schmoozing with Ruchama’s teacher, when the teacher remarked, “I thought you told me that PWS is not so common!”

“It’s not common at all,” Chana Ella said.

“Well,” the teacher replied, “just this morning I was driving behind a green minivan with a big magnet from the PWSA.”

“And who do you think was driving that minivan?” Chana Ella retorted. “My husband!”

At this point, 14 years after Ruchama’s birth, Chana Ella and I feel not only the need to reach out to other PWS parents for support, but also the strong desire to help others going through this unique challenge. Along with sharing valuable information about PWS, we could give other parents so much chizuk.

One thing I would tell a parent who is new to this challenge is that the diagnosis is actually empowering. When Ruchama was first diagnosed, we were devastated, but the truth is that the kids who aren’t diagnosed early are the ones who don’t do well, while kids like Ruchama, who are diagnosed as newborns, are able to achieve their full potential.

If you were to go online and look up Prader-Willi syndrome, you’d shudder at the images and descriptions you saw, and you’d hope never to meet anyone with this dreaded syndrome. But if you met Ruchama — who has every symptom of the syndrome, but is nevertheless high-functioning and lovable — you’d wonder what the big deal is. Just recently, a volunteer came on Shabbos to be with Ruchama and she asked her what game she’d like to play.

“I don’t play games anymore,” Ruchama told her very seriously, with all the self-importance of a 14-year-old. “Now I like to schmooze.”

Ruchama isn’t in the top five percent of kids with PWS. But thanks to Hashem’s kindness, and with the help of all the therapy and special education she’s received, she’s definitely on the higher-functioning end of the PWS spectrum.

That gives me tremendous satisfaction, because ever since she was born, I’ve followed my rebbi’s advice and devoted myself to her care. Her success is my success, and seeing her grow into a mature and delightful young woman makes me feel as though I’m truly fulfilling my mission in life. As a person with special needs, her neshamah is much closer to accomplishing its tafkid in this world than the neshamos of regular people. Today, I can honestly say that I feel honored to have been given the responsibility to finish the job of bringing her neshamah to its tikkun.

 (Originally featured in Mishpacha, Issue 694)