What is POLG Mitochondrial Disease?
"Get to know POLG Mitochondrial Disease," a rare disease that caused the death of Prince Frédéric of Luxembourg at the age of 22.
Prince Frederik of Luxembourg, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, passed away on February 28 at the age of 22 due to POLG mitochondrial disease, a rare genetic disorder.
Diagnosed at 14, Prince Frederik dedicated his life to raising awareness and funding research for the disease. In 2022, he founded The POLG Foundation to advance scientific studies and potential treatments. His efforts included collaborating with designer Donna Karan to create a clothing line to support research and participating in medical trials.
Despite his illness, his determination and advocacy led to over $3.6 million in funding, supporting four major research projects. His final words to his father expressed his wish to save others from suffering the same fate.
A previously recorded emotional video of Frederik resurfaced after his passing, in which he reflected on how his diagnosis reshaped his life and provided him with a sense of purpose.
The video also featured medical experts and his sisters, Emilia and Amelie, who also suffer from POLG. Prince Frederik found joy in designing fashion merchandise for his foundation, believing in the power of creativity to drive awareness.
His father, Prince Robert, described Frederik’s final moments and his remarkable courage in bidding farewell to loved ones.
The family, while mourning his passing, celebrates Frederik’s enduring legacy of hope, compassion, and resilience. They have shared cherished memories and photos, remembering his warmth, intelligence, and unwavering spirit.
His work through The POLG Foundation continues to inspire efforts toward finding a cure.
Understanding POLG Mitochondrial Disease
POLG mitochondrial disease is a rare genetic disorder caused by mutations in the POLG gene, which plays a critical role in mitochondrial function. Mitochondria are responsible for generating energy in cells, and defects in the POLG gene lead to impaired energy production, primarily affecting energy-demanding organs such as the brain, muscles, and liver.
Symptoms of POLG Mitochondrial Disease
Symptoms vary widely, making diagnosis challenging. Common symptoms include:
Muscle weakness
Vision impairment
Neurological disorders
Liver failure
Cardiac complications
Seizures and neurodegeneration
Due to its rarity and diverse presentation, the disease is often misdiagnosed.
Diagnosis and Treatment
Diagnosis requires genetic testing to confirm mutations in the POLG gene. Currently, there is no cure, and treatment focuses on symptom management to improve quality of life. This includes:
Supportive therapies (physical and occupational therapy)
Medications for seizures and neurological symptoms
Nutritional support and lifestyle modifications
The Importance of Research and Awareness
As a complex and rare condition, POLG mitochondrial disease requires further research for effective treatment development.
Awareness efforts, such as those led by Prince Frederik, are crucial in improving diagnosis rates and providing better support for affected individuals and their families.
While the precise number of individuals affected by POLG mitochondrial disease remains uncertain due to diagnostic challenges, Prince Frederik’s tireless advocacy has shone a light on the need for greater research, early detection, and medical advancements.
