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About Sickkids
About SickKids

August 28, 2013

SickKids Takes Lead Role in Newborn Screening in Ontario

Members of the Division of Immunology and Allergy at SickKids will play a key role in screening newborns for severe combined immunodeficiency (SCID).

With the recent announcement of Ontario becoming Canada’s first province to screen for SCID, SickKids’ role in the management of this patient population is pivotal. The hospital will be responsible for analyzing the immune system, detecting the genetic abnormalities causing immune abnormalities and treating the most critical patients.

“This is a monumental triumph for children born with severe combined immunodeficiency and their families,” says Dr. Chaim Roifman, former head and current member of SickKids’ Immunology Division, and Senior Scientist at the SickKids Research Institute. “Newborn screening will detect this problem early before complications develop and allow for prompt life-saving interventions such as bone marrow transplantation. Newborn screening for SCID will no doubt save many lives and prevent suffering of children.”

SickKids is a national centre for SCID, a rare and often fatal condition that robs the body of its ability to fight infection. The disease was made well-known internationally by the case of David Vetter, a boy in Texas who lived most of his life in a sterile plastic cocoon before passing away at the age of 12 in 1984.

The disease affects approximately 1 in 100,000 newborns worldwide, and it is estimated that in Ontario each year five to 10 infants will be diagnosed with SCID.

This important screening development is thanks in large part to the work of the Canadian Immunodeficiency (CI) Society, under the leadership of its chairman, Dr. Roifman, who initiated the process and lobbied Queen’s Park for newborn SCID testing and is now pushing to take the effort nationwide.

“Thanks to Drs. Pranesh Chakraborty, Director of Newborn Screening Ontario, and Michael Geraghty, Head of Metabolics, and their teams at the Children’s Hospital of Eastern Ontario (CHEO), applications to the Ministry of Health were perfected, the miniaturized newborn screening test was established and logistic arrangements have been optimized to allow for a timely start of this life-saving effort,” says Dr. Eyal Grunebaum, Head of the Division of Clinical Immunology and Allergy at SickKids.

The process also received significant endorsement from other high-level individuals that helped push the cause.

“Our CEO, Mary Jo Haddad, strongly supported the inclusion of SCID among the diseases screened in Ontario,” says Dr. Grunebaum.

SCID is curable through a bone marrow transplant if it is detected early and before a patient falls ill. Far too often, diagnosis is made after a baby becomes sick, and for these infants even the common cold can be deadly

“SickKids was the first and still is the only centre in Ontario that performs bone marrow transplants to cure this condition,” adds Dr. Grunebaum with much pride. “Many of the life-threatening immune deficiency conditions causing SCID were identified by the Immunology team at SickKids.”

SCID is the latest addition to Ontario’s newborn screening program, which has undergone a significant transformation over the last decade, improving to a level that is now the benchmark for other provinces.