Whole lives at stake

For children born with chronic diseases, illness is their constant companion.

8 (photo credit: )
(photo credit: )
Say "chronic diseases" and the first thing that comes to mind is old people suffering from diabetes, arthritis, Parkinson's or Alzheimer's. But many children - even newborn babies - suffer from chronic diseases. They range from congenital heart defects, cystic fibrosis (CF), asthma and a wide variety of genetic disorders such as thalassemia, to type 1 diabetes, celiac disease, Down syndrome and various forms of cancer. Because they are so diverse and so complicated to treat in growing children, it is best to bring together a skilled interdisciplinary team of medical specialists, nurses, social workers and other professionals, but there are only a handful around the world. In 2005, the Hadassah Medical Organization established at its Hadassah University Medical Center on Jerusalem's Mount Scopus Israel's first center for children with chronic diseases. It functions under the pediatric department headed by Prof. Eitan Kerem and has already treated more than 1,500 babies, children and adolescents. Kerem is himself a CF expert, and a few years ago a Hadassah research team he headed discovered that antibiotics can repair defective genes in young CF victims. Hadassah used the occasion of the launching to organize - with Shalva (the Association for Mentally and Physically Challenged Children) - the first International Congress on Chronic Disorders in Children, held recently at Jerusalem's Regency Hotel and attended by some 400 health care professionals from around the world. The congress was unusual not only for its subject, but also for the fact that it was free to all who registered. Participating fees for a two-day conference are usually above $100 apiece, but Gerry Schwartz and Heather Reisman of the US, who have seven grandchildren between them, agreed to sponsor the conference for all comers. The Peres Institute for Peace took advantage of this and facilitated the arrival of some 100 Palestinian physicians from Gaza and the West Bank, who are rare participants at Israeli medical conferences, both due to security constraints and fees. The Palestinian - and Israeli Arab - physicians found the subject very relevant, as genetic disorders caused by consanguinity (inbreeding) are very common in the Arab population. Hadassah Medical Organization director-general Prof. Shlomo Mor-Yosef said he was pleased by the presence of both Israelis and Palestinians, as Hadassah has significant ties with physicians in the territories who undergo training in specialties. "We wanted our Center for Chronic Diseases in Children to be in one place," added Mor-Yosef. "We wanted to serve children and their families in a way that would be convenient for them." He noted that the American philanthropists who sponsored the congress have already committed themselves to sponsor four more on the same topic. Prof. Francis Mimouni, chief of pediatrics at Jerusalem's Shaare Zedek Medical Center, praised (competitor) Hadassah for setting up new models for care. "Jerusalem had been fading a bit as a leader, as in the Dan region beautiful new children's hospitals have been built. But now Jerusalem is leading again," he smiled, "with development of the two beautiful Hadassah University Medical Centers, and now at Shaare Zedek we are building a children's hospital." PROF. ROBERT KLIEGMAN of the Children's Research Institute in Milwaukee, Wisconsin, said Kerem's center at Hadassah "will be a model for around the world. We used to define children by what they couldn't do, such as having a low IQ or being unable to dress themselves or go to school. But today, we focus on what they can do and what we can do to build on that. The Hadassah center and others that will be modelled on it will help kids reach their potential." Kliegman focused on his specialty, chronic metabolic diseases in the newborn. One in 1,000 children has some inborn error of metabolism. "There is a growing number of identified errors of metabolism in children because of better screening. We try to prevent them from going into metabolic crisis and deterioration, so many are now living to adulthood. Now that they are reaching reproductive age, these diseases can have an impact on their own children." One disease, called phenylketonuria (PKU), is screened for in every newborn when the heel is punctured to remove blood for the Guthrie test. PKU - the best-known metabolic problem in fetuses - is characterized by an inability to utilize the "essential amino acid" called phenylalanine. Children with pheylketonuria require a special diet and medications, but many also have chronic medical or psychiatric illness. The Milwaukee researcher said the special PKU diet is quite unpalatable, and in the US, some insurance companies won't pay for it after adulthood. Women with PKU who get pregnant often show poor weight gain. The fetus that has not inherited PKU itself can easily be affected - even suffering mental retardation - by a mother whose PKU is out of control. As a few decades ago no PKU child lived long enough to have its own children, this has to be studied more, Kliegman said. If a pregnant women has diabetes, either gestational that appears only during pregnancy or type 1 or type 2 - the baby is more likely to develop impaired glucose tolerance. If blood sugar in the mother is not controlled, the fetus can develop all kinds of defects. Over a third of women who get gestational diabetes, he said, are daughters of diabetic women, and 7% are offspring of diabetic fathers. The offspring of diabetic mothers have an increased risk of metabolic syndrome and obesity as they get older. "It is a vicious cycle, even though not all develop diabetes. As more children survive metabolic conditions, we will see more problems that have to be diagnosed early." Prof. Orly Elpeleg of Hadassah's metabolic disease unit discussed a condition called mitochondrial respiratory chain defects, which occurs in one in 5,000 to 8,000 births. As it is connected to recessive genes, it is more common in the offspring of consanguinal couples, especially Beduin, but also in Kurdish Jews and others. The babies are sometimes born dead, while others die soon after; those who survive, said Elpeleg, are usually unable to do any voluntary activity. "The gene we are looking for is like finding one name in 200 phone books of 1,000 pages each. "Because of genetic makeup and the high level of genetic research here, Israel is the best place for this research," she said. ALTHOUGH IT sounds unbelievable, Dr. Esti Galili-Weisstub of Hadassah's child and adolescent psychiatry unit described the types of mental disorders diagnosed in children as young as 10. "Schizophrenia and depression are only a small part of what we have to deal with," said the psychiatrist. There are also the various types of Pervasive Developmental Disorders (PDD) such as autism. "PDD is not simple to diagnose. I recall a boy brought to me at 14 who had severe behavioral problems. He was getting into fights and wandering the streets. But we were able to help him, and I was invited to his wedding." Developmental learning disorders, she said, usually come to the attention of family doctors and teachers. If the child is very intelligent, it would manage to struggle until junior high school, but when he or she gets to senior high school, he will fall behind behind, may skip classes and get headaches. These problems should be diagnosed as early as possible." Her unit also sees young victims of post-traumatic stress disorder after car accidents, chronic illnesses, burns, falls or even dog bites. Bipolar disorder is extremely difficult to diagnose in adolescents, she said, but more than 2%t of teens suffer from treatable depression, which if ignored can lead to suicidal behavior. With the severe shortage of public psychiatric clinics for children and teenagers, Galili-Weisstub said she feels "a professional dilemma when offering early diagnosis, because we can't offer professional treatment early." Prof. Abraham Rudolph, a chronic care expert in San Francisco, lectured on congenital cardiovascular malformations (CCM) that cause irregular heartbeat, cardiac failure, infective endocarditis and other problems. "We are completely ill equipped to deal with this problem. Some 1.8 million Americans have congenital cardiovascular malformations. For the first time in history, there are more adults with them than children, and the number of adult defects is increasing by 5% per year. Half of survivors should have lifelong special care, but fewer than 10% are getting it." He noted that most children with CCM and no other abnormalities develop quite normally, but have a higher risk of subtle motor deficits and global developmental delays THE PROBLEMS of premature babies were discussed in detail by Hadassah's Dr. Itai Berger. "Prematurity is the main cause of death in infants.," he said. "Sixty years ago, if a baby weighed less than a kilo, it was classified as stillborn." Today, he added, it can survive and even be normal, although the risks of physical and cognitive defects is still high. Extreme low-birthweight (ELBW) is defined today as babies born at less than 25 weeks of gestation or weighing 401 to 1,000 grams. Twenty-six-week-old fetuses are not rare today, and 70% of them survive. They are at high risk for severe disabilities such as cerebral palsy, epilepsy, asthma, deafness, visual problems and cognitive impairment, said Berger, but nevertheless, "most ELBW babies are free of severe disabilities." Even if they seem normal as they grow older, their reading, writing, math and IQ can be affected by their prematurity. ELBWs, he said, should be followed up for two years, but many problems are picked up at school age. "We suggest that preterm children get ongoing neurodevelopmental review throughout adulthood," Berger concluded. Preventing premature births is the best investment. Finally, Dr. Naama Constantini, a leading sports medicine expert and family physician at Hadassah Optimal in Jerusalem, discussed the fastest-growing chronic disease in children - obesity. "Kids who are overweight have a much higher risk of being obese adults. It is a vicious circle; inactivity leads to the ingestion of too many calories, which means they gain weight and don't like to exercise and suffer from low self esteem. "But if you are active in sports as child, you are 19 times more likely to be active as adults. However, Israeli children are increasingly inactive," said Constantini - whose own large brood of seven are all avid sportsmen. But she noted that there are very few books with advice and guidelines on exercise for children with chronic diseases. "For example, there are no studies of the effects of exercise on kids with inflammatory bowel disease. Should young anorectics or epileptics or cancer patients exercise? We need research to create guidelines." It is hoped that Hadassah's center on Mount Scopus will be able to provide some of the answers.