What Is Mitochondrial Disease?
Harper was diagnosed with an incurable genetic disease. In simple terms, mitochondria are often described as the ‘powerhouse’ of the cell because they help provide the body with energy.
When mitochondria do not work the way they should, the body’s cells may not receive the energy they need to function properly. Mitochondrial diseases can affect many parts of the body and may look different from child to child.
Family Note: This page shares Harper’s family’s understanding and experience with mitochondrial disease. It is not intended as medical advice. Families should speak with qualified medical professionals for diagnosis, treatment, and care guidance.
Understanding POLG
There are different variants of mitochondrial disease. Harper had the POLG variant, a genetic disorder that can cause developmental regression and serious medical complications.
When POLG is diagnosed at a very young age, there may also be a risk of Alpers disease, which can involve liver failure. Harper had this full disease presentation, and her liver began to fail in August 2024.
Genetic
POLG is connected to changes in genes that affect mitochondrial function.
Progressive
Symptoms and complications may worsen over time.
Serious
Children with severe forms may face complex, life-threatening medical challenges.
Harper’s Clinical Trial Journey
A community of doctors, family, and supporters helped Harper reach a clinical trial in Canada.
Harper’s mom and aunt learned about a clinical trial in Montreal, Canada. Harper was too sick to fly commercially, and she did not yet have a passport, so her family and medical team had to search for another way.
Harper’s care team did everything in their power to help her access the trial. They held a Zoom meeting with the doctors in Canada, consulted with specialists in other states, worked with the state to help Harper receive a passport from the hospital, and found a way for Harper to travel safely.
Friends from the hospital donated the use of a private jet and air crew to fly Harper, her family, a doctor, and a nurse to Canada so she could be part of the trial.
Hope Through Treatment
The trial medication was, for Harper’s family, a source of hope. It was created to help slow the progression of the disease and support healthier cell growth.
Harper responded in meaningful ways. Her family saw her trying to sit up more on her own. She began to speak again. She smiled, interacted more, and her liver numbers improved. Those changes gave her family hope and gave them more good days with Harper — days they will always be grateful for.
Although Harper’s brain surgeries set her back and her liver was ultimately unable to recover, the clinical trial gave her family precious time and hope. They also saw how other children responded to the medication, which strengthened their belief in the importance of continued awareness, research, and support.
“The trial medication gave us more good days with Harper that we are forever grateful for.”
The Liam Foundation
The clinical trial was connected to the Liam Foundation. Liam is a boy in Canada who was diagnosed with POLG, and his father has worked tirelessly to connect with doctors around the world in search of treatment, progress, and ultimately a cure for this heartbreaking disease.
There are promising breakthroughs happening around the world, and continued awareness and support can help move that work forward. The foundation helps families access treatments and medications connected to the trial, allowing families to focus more on caring for their children during incredibly difficult times.
Harper’s family is deeply grateful to Liam, his father, and everyone supporting this work.
Hope Through Treatment
Enrolling in the clinical study offered our family a beacon of light during a difficult time. This innovative treatment aimed to stabilize her condition and bolster cellular health. We witnessed beautiful milestones during this period. Harper showed signs of increased core strength and reclaimed her voice. Her joyful interactions and improved laboratory results were incredible gifts that allowed us to cherish every extra moment together safely. While surgical complications and liver failure eventually took their toll, the trial provided us with invaluable time and a sense of possibility. Seeing the positive impact on other participants solidified our dedication to advocating for research, funding, and community support for all those navigating similar medical paths.
The medicine from the trial allowed us to enjoy beautiful moments with Harper that we treasure deeply.