Alberta's Newborn Metabolic Screening Program - Maya's story

July 5, 2021

National Philanthropy Day

Maya Butland, age 2

Maya’s third birthday is just around the corner and her mom, Faaria Butland is planning the cake, the activities and presents, but in the flurry of all the planning, Faaria’s excited voice suddenly quiets.

“Birthdays are always so special for us and we have fun planning and getting things ready, but it’s also a time of reflection,” says Faaria. “Maya’s first two months of life is a time when our family embarked on a journey we continue to travel and will keep taking it one day at a time.”

At just eight weeks old, Maya was diagnosed with Galactosemia, a genetic disorder that impairs the body’s ability to process and produce energy from a sugar called galactose and can be the result of an enzyme deficiency. Her complications included failure to thrive, cataracts which required eye surgery, in addition to a liver biopsy at just seven weeks old.

Maya has had to overcome many obstacles and her mom says it is a miracle she is where she is today.

“She is on track developmentally, growing well and healthy,” says Faaria. “She already knows at three years old to ask if new foods are ‘Maya’ safe.”

While Maya is now thriving, early diagnosis and treatment with Alberta’s Newborn Metabolic Screening program, run by Alberta Precision Laboratories, could have prevented all of this. But at the time of Maya’s birth, galactosemia had not yet been added to the list of conditions to screen for. Because of Maya’s diagnosis, galactosemia is now included on the list of 21 conditions, preventing so many babies from having to experience what Maya went through.

Early detection through taking a baby’s blood sample by a quick poke of a baby’s heel can allow healthcare providers the ability to diagnose and treat for conditions like this before the condition progresses and worsens.

The program ensures that all babies born in Alberta receive timely access to effective newborn blood spot screening and to have an initial screen reported on or before the 10th day of age; and informing parents, health professionals and the public about the program.

“Early detection and treatment of screened conditions can make the difference between healthy development and lifelong impairment,” says Dr. Ross Ridsdale, Clinical Scientist, APL Biochemical Genetics with Alberta’s Newborn Screening Program, run by Alberta Precision Laboratories.

“When a patient is diagnosed with Galactosemia, this means immediate and lifelong removal of galactose from the diet, along with calcium supplementation and individualized care. It’s interesting to think that removing one sugar from the diet is the difference between life and death,” adds Dr. Ridsdale.
          
Without timely screening and intervention, infants with treatable conditions may suffer irreversible health problems and possibly death soon after birth.

In 2019, over 50,000 newborn babies born in Alberta (99%) were screened for 21 conditions. Of the 50,000 infants screened, 289 received an abnormal screen result and were referred for diagnostic testing and 106 of these babies were diagnosed and treated for one of the 21 screened conditions.
 
In the early part of 2020, 41 infants were screened, diagnosed and treated for potentially fatal conditions. The first cases were blood sickle cell disease. Hematologists have said that newborn screening has transformed the care of these patients. In addition, two other babies’ lives were likely saved after screening positive for the very rare conditions, isovaleric acidemia, and VLCAD, a type of fatty acid oxidation disorder. People with VLCAD can't break down certain types of fat into energy for the body.

Throughout Canada and the rest of the world, new conditions are being added to newborn screening programs as new treatments come available and early detection is of benefit.  New treatments like enzyme replacement therapy, gene and cell therapies are changing the outcomes for genetic diseases. Conditions like Spinal Muscular Atrophy, X-Linked Adrenoleukodystrophy, Pompe disease and others have been adopted by newborn screening programs elsewhere and will be potential screening conditions for Alberta.

Learn more about Newborn Metabolic Screening.