Maya’s diagnosis a gift that helps other kids

July 5, 2021

As an infant, Maya Butland of Edmonton was diagnosed with galactosemia, a rare genetic disorder, and has miraculously overcome many obstacles to get to where she is today. Galactosemia is now included in the list of conditions babies are screened for through Alberta’s Newborn Metabolic Screening Program.

As an infant, Maya Butland of Edmonton was diagnosed with galactosemia, a rare genetic disorder, and has miraculously overcome many obstacles to get to where she is today. Galactosemia is now included in the list of conditions babies are screened for through Alberta’s Newborn Metabolic Screening Program. Photo supplied.

Toddler’s genetic condition joins Alberta’s Newborn Metabolic Screening Program

Story by Nicole Ouellet & Grady Semmens

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, at the time of Maya’s birth, Galactosemia had not yet been included on the list of conditions screened for through Alberta’s Newborn Metabolic Screening (NMS) Program. In April 2019, it was added as one of the 21 screened conditions, preventing so many babies from having to experience what Maya went through.

Early detection, using a few drops of blood from a quick heel poke (newborn blood spot screening), allows healthcare providers to diagnose and treat screened conditions, like Galactosemia, sooner before the condition progresses and worsens.

The NMS Program, offered free of charge through Alberta Health Services in collaboration with Alberta Precision Laboratories (APL) and other partners, ensures that all newborns 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. They also work to inform and educate parents, health professionals and the public about the program and the importance of newborn screening.

“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 NMS Program.

“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 screened conditions.

Learn more about Alberta’s Newborn Metabolic Screening Program.