Opinion: We need to expand newborn screening program

The benefits of early diagnosis from screening are monumental.

The Province 4 minute read October 8, 2021

Dawn Shirley and her daughter Quinn. The five-year-old was diagnosed with severe combined immunodeficiency — commonly known as SCID when she was just three weeks old. PNG

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

Fortunately, an experienced immunologist observed her symptoms and suspected she may have severe combined immunodeficiency — commonly known as SCID. Because of this early diagnosis, Quinn was able to receive life-saving treatment and now lives a healthy life on Vancouver Island.

Sadly, other babies born with SCID in B.C. are not as fortunate as her.

Even though SCID is a rare disease, you might remember 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 potential treatments significantly advanced thanks in part to research and advocacy by his family.

Babies with SCID don’t produce enough immune cells to protect their bodies from infection which makes it difficult for them to fight any viruses or infections. Many of the safety precautions we’ve had to take to prevent the spread of COVID-19 like isolation and wearing PPE are part of the daily routines that families living with SCID follow religiously to keep their babies from getting sick. The fear and isolation we’ve 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 SCID is more prevalent in Indigenous and Metis populations. The good news is that if diagnosed within the first few months of life, more than 95 per cent of babies will survive. But without early screening and treatment, most babies with this disease often don’t live past their first birthday.

The benefits of early diagnosis from screening 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 screen infants for SCID at birth was developed in 2005 and almost every Canadian province now screens all newborns for the disease. Unfortunately, B.C. is one of the last provinces in Canada not to include this in their newborn screening program. September was Newborn Screening Awareness Month and we want to take this opportunity to advocate for this.

The team at the Canadian Immunodeficiencies Patient Organization (CIPO), along with doctors and families, have been advocating for many years for SCID to be added to the B.C. newborn screening program. We know we share the collective belief that every British Columbian deserves to have access to the world-class health care we enjoy in our province, and for the most part we are fortunate to have that. But gaps in the system like this one end up leaving a few families behind and we know that’s not good enough. That is why we are calling on Health Minister Adrian Dix to add SCID to the 24 other disorders every newborn in B.C. is screened for using a simple blood test.

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

There is very clear data that shows early diagnosis and treatment is life-saving and there are many treatment options which 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 across Canada are working to fill in the gaps left exposed by COVID-19. In this unprecedented time of rebuilding, let’s ensure our health care system doesn’t leave anyone 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 Immunodeficiencies Patient Organization in Victoria.