Israel Has Twice as Many 'Bubble Children' Compared to Western Countries

The rare genetic condition, in which children are born with no immune defense, is almost always found only in children born to parents who are relatives

Ido Efrati
Ido Efrati
File photo: A baby in an incubator.
File photo: A baby in an incubator.Credit: Nir Keidar
Ido Efrati
Ido Efrati

Since the beginning of the year, six babies were born in Israel with the condition known as severe combined immunodeficiency syndrome, a rare genetic condition that is almost always found only in children born to parents who are relatives. The numbers are slightly down from the eight so-called “bubble children” born in 2016.

Roughly one child in 25,000 is born with SCID in Israel, about twice the frequency of the disease in other Western nations. The figure for the United States is one in 50,000 births.

The truth about the incidence of SCID in Israel was only recently discovered, through a survey specifically designed to identify such cases that provided the first precise data on the incidence of the disease. The data surprised a large number of doctors who had thought until recently that the frequency of the disease in Israel was similar to that in other developed countries.

Bubble baby disease, as it is also known, is characterized by a deficient antibody response. There are several types of white blood cells, all of which are crucial to the immune response. SCID may involve B-cells (which make the antibodies), T-cells (which stimulate the B-cells) or both.

Babies born with SCID simply have no immune defense and are unable to fight viruses, bacteria or fungi. They suffer from a wide range of chronic diseases and rarely survive for more than a year. Their only hope lies in a transplant of the bone marrow that produces the white blood cells. In the interim, to survive in the modern world, children with the condition are confined to sterile environments – which in the past was typically a plastic bubble, hence the soubriquet bubble child.

Until a couple of years ago, infants with SCID tended to be brought in for medical treatment only months after their births, by which time they were terribly ill. They would usually be sent straight to intensive care and many did not survive, said Prof. Raz Somech of the pediatric department at Sheba Medical Center, who heads the national center for newborn screening. Somech also directs the effort to screen for SCID in Israel.

From November 2015, the Israeli Health Ministry added SCID to the list of diseases that all newborns are screened for. The tests are conducted in the hospital and the samples are sent to the Health Ministry’s central screening laboratory. If a preliminary indication of SCID is found, the finding then has to be confirmed by Somech’s lab.

Some 370,000 tests for SCID have been conducted since it was included in the battery of infant testing. In many cases, the results of the test raise a suspicion of the baby having the disease. The parents and child are then sent for further diagnostic work.

Somech’s national clinic works in close cooperation with Israeli hospitals and HMOs. The clinic receives about 60 cases a year of suspected SCID, which are then pursued through further testing.

“The infants diagnosed with the disease are treated accordingly. They are placed in isolation and receive intravenous infusions of antibodies and in the end undergo bone marrow transplants, The most successful bone marrow transplants occur when they are performed at age three to four months,” Somech said, adding that the screening process has not missed a single case of SCID since it was introduced. “Of 14 infants diagnosed with the disease in the past two years, only one has died, due to a heart problem. All the others underwent successful transplants or are in the final stages before undergoing a transplant,” he said.

The other infants who are referred to the immunodeficiency clinic turn out to be suffering from partial dysfunction of their immune systems as a result of other genetic conditions, though not from bubble baby disease. Some of the cases the clinic has seen involve other diseases that are known to medical science but that had not been known to have an influence on the immune system, Somech explained. In most cases, these disease are less dangerous than SCID and do not require bone marrow transplants. Addressing the condition through a range of other steps, including proper training and education, partial isolation conditions and various vaccines is enough instead, he said.

“In 90 percent of the bubble child cases, the children are the result of marriage between relatives, and the immediate diagnosis through the screening allows their lives to be saved,” Somech said.

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