Newborn screening gives Hudson a head start

Provincial program spots abnormalities early, expedites treatment

Story by Vanessa Gomez

EDMONTON — Hayley Cowie and her family never expected to receive an abnormal genetic-test result just days after their bundle of joy, Hudson, was born.

The Spruce Grove couple’s first child arrived in June 2019 and underwent newborn blood-spot screening while in the hospital as part of the Alberta Newborn Screening Program (ANSP) — a provincewide program offered to all babies born in Alberta by Alberta Health Services (AHS). Screening is offered before discharge from hospital and involves a quick heel poke to collect a few drops of blood for testing.

“The program works to improve newborn health and save lives of Alberta newborns through early diagnosis and treatment of certain conditions such as sickle cell disease, cystic fibrosis, metabolic conditions, endocrine conditions and more,” says Dr. Huiming Yang, medical director Provincial Screening Programs. “Some of these conditions can be fatal if not caught and treated early.”

Hayley and her husband Ian were notified in July by their primary doctor that their son’s screening results had come back positive for Severe Combined Immunodeficiency (SCID) — a genetic disorder that can cause abnormalities in the immune system, making infants susceptible to developing re-occurrent and life-threatening infections. Hudson was the first child in Alberta to be diagnosed with SCID under the ANSP.

“We panicked when we first got the news of the positive screen results — and we were shocked because there was no history in our families,” says Hayley. “We thought it could have been a false positive. Waiting to hear the test results to confirm was the hardest part.”

Armed with the knowledge of this new diagnosis, however, the Cowie family and their healthcare team sprang into action with a treatment plan.

“Because of newborn screening, we were given the chance to fight early,” says Hayley. “The immunology team at the Stollery Children’s Hospital was amazing and walked us through so many uncertain times. They had a plan right away and all we had to do was stick to it.”

The family explored options for treatment and geared up to do a bone-marrow transplant, with family and friends open to being donors. In August, Hudson was accepted into a gene-therapy trial program at St. Jude Children’s Research Hospital in Tennessee.

“To be on the trial, you had to have no previous infections. We were lucky Hudson’s condition was caught early, or we’d be in and out of the hospital system, and may not have qualified for the trial,” adds mom Hayley. “He was able to complete treatment quickly and was completely healthy within six months.”

“Screening is quick and safe,” says Dr. Yang. “Performing newborn screening within a baby’s first 10 days of life ensures they get timely access to the care and treatment they need for healthy development.”

Now almost four, Hudson is a fun-loving big brother to his baby brother Max.

“He’s doing great and there are no concerns at all,” says Hayley. “He has lots of energy and loves anything outdoors.

“For any parents who may be worried, this is a minimally invasive procedure — and I’m a strong advocate for newborn screening.”