An accurate diagnosis is foundational to treating a sick child. But not all conditions are easy to identify. 

When Malcolm’s mother Leona was a child, she was diagnosed with a connective tissue disorder called Marfan syndrome. The diagnosis had required her to take a daily heart medication and to avoid contact sports in order to avoid health risks, even as an adult. Then, in 2019, Leona gave birth Malcolm—and she began to worry he might have inherited her condition.

Seeking answers, Leona turned to experts at BC Children’s Hospital. She found them, thanks to the Precision Health Initiative (PHI) at BC Children’s Hospital Research Institute. Through the PHI, experts were able to diagnose Malcolm and Leona with a rare condition called Beals syndrome, which is caused by a genetic change in their FBN2 gene. Similar to Marfan Syndrome, Leona’s original diagnosis, Beals syndrome results in variable skeletal and joint differences, such as slender fingers and toes, a protruding chest or restricted joints, as well as a small increased risk for enlargement of the blood vessel that distributes blood from the heart to the rest of the body. 

This news was life changing for both mother and son. With an accurate diagnosis, Malcolm’s team was equipped with the right knowledge to help him thrive. Now 5 years old, Malcolm attends school, plays with friends, and best of all—his family is comforted by knowing exactly how to support their son.

Families with rare diseases often face what’s called a “diagnostic odyssey” when seeking a diagnosis for their health problems. It’s stressful to not know what’s wrong with your child, with no answers on the horizon. No matter how difficult it may be to find a diagnosis, sick children and their families deserve to be set up for success. 

That’s why precision medicine has such transformative potential. Together, Malcolm’s healthcare team didn’t just provide Malcolm and his family with answers; they instilled hope for a brighter, more empowered future.