Parents Ian and Hayley Cowie were just a few days into life at home with a newborn when the phone rang.
It was the doctor who had delivered their son, Hudson Cowie. The results of a routine screening had come back, and Hudson tested positive for severe combined immunodeficiency (SCID), also known as the bubble boy disease. Infants with SCID appear to be healthy, but non-functioning T-cells means they have little or no immune system. That leaves them vulnerable to severe infections.
The family, from Morinville, were quickly booked in for an appointment at Stollery Children’s Hospital where the SCID diagnosis was confirmed.
“Originally, we resented that newborn screening because we were hoping they were wrong, we were hoping they messed up. We couldn’t be more thankful for it now,” Ian Cowie said.
SCID is one of four new disorders recently added to the list of conditions that all Alberta newborns are screened for. A few drops of blood are collected from a heel poke within 24 to 48 hours of a child’s birth, and then the sample is sent to University of Alberta Hospital, the province’s only testing site for newborn metabolic diseases.
If a baby tests positive for one of the 21 conditions on the list, parents and the physician are notified so treatment can begin right away.
“Getting to these infants early, before they actually get sick, means that their outcome is that much better. That’s been proven in the literature,” said Dr. Sherry Taylor, with Alberta Public Laboratories.
Alberta Health Services invested $2-million to expand the screening panel to include the four new disorders. Taylor said it took about 18 months to pull together the staff, space, and equipment needed to test for the additional conditions.
The addition of sickle cell disease (SCD), tyrosinemia type 1 (TYR1), classic galactosemia (GALT) and severe combined immunodeficiency (SCID), brings the total to 21 conditions.
For Hudson, treatment meant being placed in isolation. He’s not allowed to leave his home, and only his parents and two other designated caregivers can have contact with him.
He’s also awaiting a bone marrow transplant. Once he gets the transplant, he’ll have to remain in isolation for about six months while he recovers. After that, his parents are hopeful he’ll have a clean bill of health. It’s also possible he could require medication for life. But his mother said they just want to get him through this early diagnosis.
“There’s just still so many unknowns, so there’s not really a whole lot we can do until we find out more answers and keep moving along this process,” Hayley Cowie said.
Because the condition is rare, the Cowies had a hard time finding information about it online. They hope that by sharing their experience, they might be able to help other families who get the same diagnosis.