Dawn Shirley & Whitney Goulstone: Why BC Needs to Expand Its Newborn Screening Program

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When Quinn was born in January 2016 at Victoria General Hospital, we thought everything about her was perfect. He acted like any other newborn during his first few weeks, but like his mother, I soon noticed that something was wrong. Her condition continued to worsen and only three weeks later she was admitted to the pediatric ICU.

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Fortunately, an experienced immunologist observed your symptoms and suspected that you might have a severe combined immunodeficiency, commonly known as SCID. Thanks to this early diagnosis, Quinn was able to receive life-saving treatment and now leads a healthy life on Vancouver Island.

Sadly, other babies born with SCID in BC are not as lucky as she is.

Although SCID is a rare disease, you may remember the media coverage of the “bubble boy” in the late 1970s. David Vetter was born in 1971 in Texas and lived most of his life in a sterile plastic environment. Sadly, he died in 1984 at the age of 12, but during his short life, knowledge about this disorder and possible treatments advanced significantly thanks in part to research and advocacy from his family.

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Babies with SCID do not produce enough immune cells to protect their bodies from infection, making it difficult for them to fight any viruses or infections. Many of the safety precautions we have had to take to prevent the spread of COVID-19, such as isolation and wearing PPE, are part of the daily routines that families living with SCID religiously follow to prevent their babies from becoming get sick. The fear and isolation that we have recently experienced from the pandemic is not new to families who have been living with this disease.

Although it can happen to anyone, Recent research shows that SCID is more prevalent in indigenous and Metis populations.. The good news is that if it is diagnosed in the first months of life, more than 95 percent of babies will survive. But without early detection and treatment, most babies with this disease often do not live beyond their first birthday.

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The benefits of early diagnosis from screening tests are monumental. If detected at birth, families can start taking preventive measures right away to prevent any illness / infection before treatment. It also gives families and their doctors time to research the best treatment plan for the type of SCID their baby might have.

A test to detect SCID at birth in infants was developed in 2005 and almost all Canadian provinces now screen all newborns for the disease. Unfortunately, BC is one of the last provinces in Canada to not include this in its newborn screening program. September was Newborn Screening Awareness Month and we want to take this opportunity to advocate for this.

The Canadian Immunodeficiency Patient Organization (CIPO) team, along with physicians and families, have been advocating for many years for SCID to be added to BC’s newborn screening program. We know that we share the collective belief that all British Columbia people deserve access to the world-class healthcare that we enjoy in our province, and for the most part, we are fortunate to have that. But gaps in the system like this end up leaving some families behind and we know that’s not good enough. That’s why we asked Health Minister Adrian Dix to add SCID to the other 24 disorders that all newborns in British Columbia are screened for using a simple blood test.

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Screening, early diagnosis, and treatment save lives and save the long-term health care system money. The hospitalization of a newborn baby is emotionally overwhelming for any new parent. It is also extremely costly for the healthcare system, as it is estimated that caring for each baby with SCID could cost $ 2.5 million during the first five years of life.

There is very clear data showing that early diagnosis and treatment can save lives, and there are many treatment options that allow babies to grow up healthy and lead normal lives. The global pandemic has shown us the importance of health care to our communities, and fortunately many governments in Canada are working to fill the gaps left by COVID-19. In this time of unprecedented rebuilding, let’s make sure our healthcare system leaves no one behind, no matter who they are or how young they are.

Dawn Shirley is Quinn’s mother and lives in the Comox Valley. Whitney Goulstone is the Executive Director of the Canadian Immunodeficiency Patient Organization in Victoria.

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