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https://www.newbornscreening.info/Parents/otherdisorders/SCID.html

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A child in isolation to survive with their deficient immunity.

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Ethan Peters, 8, and mom attend Ottawa event to announce life-saving blood test

A boy with a rare and treatable "bubble boy" disorder who was saved by a test after his family lost an older sister to the disease is welcoming Ontario's newborn screening announcement for the illness.

Lori Peters and her eight-year-old, Ethan, travelled from Niagara-on-the-Lake, Ont., to join his sisters at the Children's Hospital of Eastern Ontario in Ottawa today as Ontario Health Minister Deb Matthews announced a new life-saving screening for newborns in the province.

Healthy Ethan greeted Ontario health minister Deb Matthews after she announced newborn screening for SCID. (CBC)

"It saves lives," Matthews told reporters. "It saves money in the long run. With appropriate treatment they can be cured."

Ethan has Severe Combined Immune Deficiency or SCID, a group of rare and potentially fatal conditions in which the immune system either lacks key immune cells called T-lymphocytes or the cells don't work properly. It's also known as bubble boy disorder after David Vetter, a boy from Texas with a type of SCID, lived for 12 years in a plastic, germ-free bubble.

"The most frustrating part of losing our beautiful daughter was that she was never given a chance to fight," Peters said of their daughter, Brooklyn. "We never knew what we were fighting. We felt so helpless and lost."

Ontario is adding screening for SCID, or bubble boy disease, to its standard heel prick blood test for newborns. (J. Scott Applewhite/Associated Press)

Peters said Brooklyn had repeated bouts of pneumonia and hospitalizations. It was only when Brooklyn's final blood sample was sent to Toronto that she was diagnosed with SCID. "She had no immune system to fight even a simple cold," her mother said.

When Ethan was born, he spent eight months in hospital in reverse isolation until he received a bone marrow transplant.

Ethan is now 100 percent healthy and medication free, his mother said. He presented Matthews with a large thank you sign.

Since Aug. 12, newborns in Ontario have been undergoing screening for SCID during standard heel prick test bloods. Ontario is the first jurisdiction in Canada to include this test. In the U.S., several states have being doing it for a couple of years, according to the SCID internet homepage.

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'Bubble Boy' Welcomes New Ontario Screening Test

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A boy with a rare and treatable "bubble boy" disorder who was saved by a test after his family lost an older sister to the disease is welcoming Ontario's newborn screening announcement for the illness.

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There is no cure for SCID, but gene therapy, blood transfusion, bone marrow transplants, enzyme replacement, and preventative protection help fight the deficient immunity.

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For the first few months of life, a child with SCID is protected by antibodies in the mother’s blood. Afterwards, the SCID child begins to suffer from common infections like influenza, pneumonia, and infections of the ear and urinary tract. Other symptoms include rashes, diarrhea, cough, congestion, fever, other autoimmune conditions, failure to thrive, and short stature. Infants are often born without tonsils and lymph nodes.

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http://www.mun.ca/biology/scarr/Somatic_Therapy_for_SCID.htm

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SCID makes those affected highly susceptible to life-threatening infections by viruses, bacteria, and fungi.

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The high cost of current testing has prohibited newborn screening on a population-wide basis. To make screening for all newborns affordable, an automated screening method that could process hundreds of samples every day with minimal hands-on requirements would need to be developed.

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SCID is an inherited disorder. Of the two ways for the fetus to fail to develop normally due to genetic problems, in the the first type both B and T cells are defective. In the second type, only the T cells are abnormal, but their defect affects the functioning of the B cells.

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Of the three parts of the immune system, the cellular and humoral parts are affected by SCID. They are both needed to fight infections by recognizing disease agents to attack them. With SCID, neither the cellular nor the humoral part of the immune system is working properly.

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There are currently 14 disorders grouped under SCID.

Swiss-type agammaglobulinemia. This was the first type of SCID discovered, in Switzerland in the 1950s.

Adenosine deaminase deficiency (ADA). About 50% of SCID cases are of this type. ADA deficiency leads to low levels of B and T cells in the child’s immune system.

Autosomal recessive. About 40% of SCID cases are inherited from the parents in an autosomal recessive pattern.

Bare lymphocyte syndrome. In this form of SCID, the white blood cells (lymphocytes) in the baby’s blood are missing certain proteins. Without these proteins, the lymphocytes cannot activate the T cells in the immune system.

SCID with leukopenia. Children with this form of SCID are lacking a type of white blood cell called a granulocyte.

Taken from "Severe combined immunodeficiency." The Gale Encyclopedia of Medicine

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-SCID is thought to affect between one in every 100,000 persons, and one in every 500,000 infants.
-Early diagnosis of SCID is rare because doctors do not routinely count each type of white blood cell in newborns.
-Untreated infants usually do not live beyond a year

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Frey, Rebecca J. "Severe combined immunodeficiency." The Gale Encyclopedia of Medicine, edited by Jacqueline L. Longe, 5th ed., Gale, 2015. Health & Wellness Resource Center, http://link.galegroup.com/apps/doc/XSORPL336561080/HWRC?u=mtlib_2_754&sid=HWRC&xid=08efdf37.

Wells, Ken R., and Katherine Hunt, PhD, MS, CGC. "X-Linked Severe Combined Immunodeficiency." The Gale Encyclopedia of Genetic Disorders, edited by Tracie Moy and Laura Avery, 4th ed., vol. 3, Gale, 2016, pp. 1842-1844. Health & Wellness Resource Center, http://link.galegroup.com/apps/doc/CX3630400535/HWRC?u=mtlib_2_754&sid=HWRC&xid=d02ca4dd. Accessed 19 Feb. 2018.

“Learning About Severe Combined Immunodeficiency (SCID).” National Human Genome Research Institute (NHGRI), www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/#al-9.

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SCID is one of the most serious human immunodeficiency disorder(s). It is a group of congenital disorders (disease present at birth) in which both the humoral part of the patient’s immune system and the cells involved in immune responses fail to work properly. Children with SCID are vulnerable to recurrent severe infections, stunted growth, and early death. Several different immune system disorders are currently grouped under SCID.

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Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia