REAL STORIES
Living with, and managing
MCT8 deficiency
OUR JOURNEY WITHMCT8 DEFICIENCY
For patients and caregivers, sharing
your story can be empowering.
YOUR MCT8 DEFICIENCY STORY MATTERS.
REBECCA AND ELIJAH
“Elijah, whom I call the ‘joyful hero,’ has a smile that can light up any room; however, his life didn’t start that way. His early years with his biological parent were tough. He didn’t receive consistent medical care, and although he was initially diagnosed with cerebral palsy, Elijah lived in unstable conditions, mostly bedridden, sleeping 17 to 18 hours a day, and often distressed.”
CHRISTINA AND CARTER
“As a single mother, I am grateful to have the support of family and friends, especially my mother, who has cared for my son since birth through her daycare. There’s also an online group for MCT8 deficiency families, providing a connection to other families around the world with the same diagnosis.”
NICOLE AND LIAM
“My journey into motherhood began with pure joy: my firstborn, a healthy daughter, completed my world as a single mom. Ten years later, remarried, I faced heartbreak—losing my son Will six months into pregnancy. Trusting my instincts, I requested genetic testing but was initially denied and told it was just a fluke, and it wouldn’t happen again.”
