For Devorah and Yochanan Lieberman of Jerusalem’s Neveh Ya’acov neighborhood, a good day is when their precious eight-and-a-half- year-old daughter Maayan has no pain and does not choke from the fluids in her throat.
The girl, who is even more dependent on her parents and other caregivers than a healthy newborn baby, is apparently the only child in Israel to suffer from Batten disease – an extremely rare and incurable genetically transmitted neurodegenerative disorder that begins in childhood.
It is named after the British pediatrician Frederick Batten, who first described it in 1903.
The couple, who have no family in Israel, had of course never heard of the disorder. Genetic testing institutes for couples before engagement or after marriage do not test for it, as Batten’s disease is so rare. So it was an unhappy surprise when they saw Ma’ayan, who was normal at birth, suddenly decline at the age of three.
“We could see she had some problems. She developed epilepsy and then stopped talking and walking. None of the doctors knew what it was,” her mother said in an interview with The Jerusalem Post
“We had an MRI done in one hospital, but the doctors didn’t find anything. Later, we took her to Sheba Medical Center, and it turned out the original one had been misread. At Sheba, the neurologist looked at the scan results and said in two minutes: ‘This is not normal.’ Then we got the diagnosis,” Devorah recalled.
Maayan’s parents are completely normal. They each had a healthy dominant gene and an autosomal recessive gene that, when joined with another one, causes this form of neuronal ceroid lipofuscinose disorders.
The early symptoms of Batten’s include seizures, vision problems and possibly mild behavior and personality changes and slow learning or regression. Repetitive speech, stumbling or clumsiness may follow.
Physical problems may include poor circulation in lower the feet and legs, reduced muscle mass and body fat, a curved spine, constipation and breathing problems. As a few years pass, Batten children suffer mental impairment, progressive loss of sight, speech and motor skills and worsening seizures. Eventually, the young patients become bedridden, blind and even demented until they die.
The modern-Orthodox Liebermans, including their one older and three younger children, are well aware of Maayan’s dim future, but they are still holding on to hope.
“The doctors have told us not to expect anything. Our kids understand that she is very ill, that we’re praying to God. She is what God has given us. We try to keep her comfortable and happy. My husband, who is so committed to the well-being of us all, and I haven’t given up. Maayan has a wonderful neshama (soul). She knows she is so loved. Her illness has made us all stronger and better. Her siblings don’t feel neglected.”
ALTHOUGH THE community in Neveh Ya’acov is very supportive, the Liebermans would not have been able to manage without a special team from the Center for Pediatric Chronic Diseases, established and run by renowned pediatric respiratory disease expert Prof. Eitan Kerem, the head of Hadassah’s pediatric division.
This facility, which has special expertise in feeding disorders, saw the need for relieving pain and giving close medical and emotional support to severely ill young patients, parents and siblings. Two months ago, it finally opened on the fourth floor the Hadassah Medical Organization’s Mount Scopus hospital– the country’s only pediatric supportive and palliative medicine facility, directed by Dr. Osnat Levtzion-Korach.
The Liebermans highly regard the team at the unique Pediatric Supportive and Palliative Medicine Center. It is directed by Prof. Rebecca Brooks, and other physicians include Prof.
Shaya Wexler, director of Hadassah’s pediatric clinic care and Dr. David Shoseyov, a pulmonologist.
“They’re our home away from home. We’ve being discussing with the team having a tracheostomy for her – she already has a food tube in her stomach. They can be called at any time when we need them. They have helped us cope with emergencies and calmer moments. They decide according to what is best for Maayan, not according to what we ourselves feel,” Devorah said.
“It’s a family team. Everything is discussed. If we had to bring her to the hospital every time Maayan chokes, we’d be there every week. They help us to do things by ourselves.”
Taking care of Maayan is more than a full-time job. They have to do suction, change her diapers and monitor her oxygen saturation in the middle of the night. They have help from Meuhedet Health Services, their health fund and the National Insurance Institute, but their daughter still needs more.
“She is totally dependent. It’s a massive job,” said her mother. “We run a hospital at home. But it’s been worth it. We are fortunate that it happened in Israel, where people care and there is excellent medical care.”
“THOUSANDS OF children a year are diagnosed with life-threatening conditions in Israel,” said Kerem.”
These conditions range from cancer, to genetic and metabolic diseases, to organ damage and failure. Although the chances of surviving these diseases are higher than ever before, evidence suggests that these children still experience substantial suffering physically and emotionally. This has a long-term effect on the children who do survive cancer and their families, as well as on the bereaving families of those who did not survive.
“Pediatric palliative care is an evolving field in the Western world. Many families suffer from a poor quality of life because of their daily struggle with the pain or discomfort of their child with a severe debilitating and chronic disease,” he added.
The first plans for the new center date back to November 2013. The facility “has a holistic approach to the whole family. It alleviates the child’s suffering, helps the parents cope with the challenge of caring for such a child and pays attention to the healthy siblings that have their own needs within the challenging framework of the family.”
Wexler, a pediatrician from Cleveland, said that among the conditions the families have to cope with are severe psychomotor retardation; glycosylation disorders, Krabbe’s disease; non-ketotic hyperglycinemia; and even Tay-Sachs disease (which can be avoided by pre-engagement blood tests or even in a newly pregnant woman who can abort, although a small number of Hassidic families refuse to abort even when the disease is inevitably fatal).
"All the children have issues in common such as great weakness, problems with muscles and nerves, swallowing difficulties and the fact that a lot of secretions get into their lungs. These have to be suctioned so the youn patients don’t get pneumonia. In any case, it’s hard for them to speak because they can’t swallow well,” said Wexler. “We never feel it’s a lost cause. We don’t believe in that. We tell the truth, but we always try to give hope.”
Until the opening of the new facility, families have had to go to many types of doctors in different places.
“We run a one-stop, interdisciplinary shop. Often families face medical challenges alone. I am very proud that Hadassah established this center, with support from the Sacha Charitable Foundation, the Adam Goldsmith Memorial Fund and the Hadassah Women’s Zionist Organization of America. We have raised over half a million dollars so far.”
Although the center, with its physiotherapists, social workers (one Arabic- speaking) and others, now cares for 12 families, it expects 50 or 60 in a few months. Some will come from the Palestinian Authority, and it already has a Gazan child with a severe genetic disease.
Shaare Zedek Medical Center across town does not have a supportive and palliative facility for children, but after learning of it, instructions were given by director-general Prof. Jonathan Halevy to refer relevant patients to the Mount Scopus center.
“IN ADULTS,” continued Kerem, “palliative care means the patient will die in a few months, and one has to ameliorate his or her pain.
With children, you try to keep them alive, take care of the pain, provide the proper nutrition and help the parents the and siblings. You have to talk to them. The siblings, no matter how young, often feel guilty that they are healthy, or they feel neglected because the parents are so busy with the sick child. They can be very traumatized by death; children have different concepts of dying and mourn differently.”
Kerem noted that there is a high rate of divorce among parents with children suffering from chronic and terminal diseases.
“We try to do family preservation. We always ask to see both parents together, not just one. We give counsel if one parent feels all the burden is falling on her [or him]. But couples with a strong bond manage to survive and even thrive.”
Kerem said he would love to collaborate with Life’s Door, the voluntary organization set up by radiology oncologist Prof. Ben Corn and his family therapist wife Dvora Corn to help adults with severe or terminal diseases and those facing death. “It has spent most of its efforts on cancer.”
Asked to comment, Corn said, “We are working closely with Shaya. Later this year, a collaboration will begin to study “hope enhancement” among pediatric patients and their parents. The organization has developed techniques to retain and even increase hope despite desperate clinical situations. A formal study to assess these techniques (with approval by the Ethics Committees) will be launched together with several institutions in the US, including the Mayo Clinic, Johns Hopkins and Duke University.”
Brooks, who studied medicine at Hadassah with her boss Levtzion- Korach and learned pediatric intensive care in Australia, said that there are disagreements around the world on the name for such centers.
“When one says ‘palliative,’ people think of cancer pain. We wanted to be more general. So we decided on ‘supportive and palliative.’” When children are able to speak despite their condition, “you see a different child. They feel we have all the time in the world for them.
We have an excellent team, including social workers and a psychologist adviser. [The children] are not suited for Jerusalem’s Alyn Hospital, as they cannot be rehabilitated. Alyn is outstanding doing this. We don’t compete with them. When a child dies, it’s very difficult for all of us, but it is part of aftercare for the family and siblings. We plan to set up a project for caring emotionally for the brothers and sisters,” Brooks said.