Prince Frederik of Luxembourg, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, died in Paris at age 22 on March 1—a day after Uncommon Illness Day—of a uncommon genetic illness often known as POLG.
His father introduced his passing on March 7 in an announcement posted on the web site of the POLG Basis, which Frederik cofounded in 2022 and was the artistic director of.
“Frederik fought his disease valiantly until the very end,” Robert wrote. “His indomitable lust for life propelled him through the hardest of physical and mental challenges.”
Frederik—who’s survived by his dad and mom; his brother, Alexander; his sister, Charlotte; his cousins, Charly, Louis, and Donall; his brother-in-law, Mansour; his aunt and uncle, Charlotte and Mark; and his canine, Mushu—was remembered as a resilient fighter and a headstrong advocate. “Frederik knows that he is my Superhero,” Robert wrote. “Part of his superpower was his ability to inspire and to lead by example.”
He even expressed gratitude for having his illness, Robert wrote. “He felt that there were so many amazing people that he would never have known had it not been for his disease,” and as soon as instructed a buddy, “‘Even though I’ll die from it … and even if my parents do not have the time to save me, I know that they will be able to save other children.’”
What is POLG?
POLG illness is a mitochondrial dysfunction attributable to inherited mutations within the POLG gene—which is essential to the processes of replicating cells’ genetic materials and DNA restore. The illness, which has no remedy, impacts a number of organs, together with the mind, nerves, muscle mass, and liver, and signs might be wide-ranging and debilitating. “One might compare it to having a faulty battery that never fully recharges, is in a constant state of depletion and eventually loses power,” Robert wrote.
It’s additionally tough to diagnose. Whereas it’s some of the frequent inherited mitochondrial ailments, affecting round 1 in 10,000 folks, it’s thought-about a uncommon illness. Molecular genetic testing for the mutation exists, and the illness can be detected by way of mind imaging to search for related mind adjustments and electroencephalogram (EEG) testing, however the vary in signs and lack of public consciousness across the illness means it may be exhausting for even physicians to establish. Frederik was recognized at age 14.
Doug Turnbull, a professor of neurology at Newcastle College and a member of the POLG Basis’s scientific advisory board, described POLG deficiency as “the worst” of all mitochondrial ailments. “It is so relentlessly progressive, attacking so many different systems with sadly the same conclusion.”
The illness can influence imaginative and prescient, mobility, and speech, and it may be lethal—life expectancy ranges from three months to 12 years from the onset of the illness.
What does the POLG Basis do?
In its three 12 months tenure, the inspiration has offered $3.6 million of funding for 4 main analysis tasks trying on the mechanisms of the illness and potential remedies, partnered with Columbia College on Mission Butterfly to check autopsy tissues from two households with the POLG mutation, and developed a home-based software to evaluate adjustments in capabilities and illness development of sufferers with mitochondrial issues. This 12 months, the group is launching the primary worldwide POLG pure historical past research to gather knowledge on how POLG illness develops in sufferers over time.
Frederik was instrumental to the development of the science round POLG, not solely as a founding father of the inspiration, but additionally by offering his personal DNA to generate sequences and induce pluripotent stem cells that can be utilized for additional analysis.
The implications of mitochondrial analysis transcend POLG, in accordance with Robert’s assertion. Understanding the “fundamental role of mitochondria in health and its failings in disease” might be utilized to different ailments like most cancers, neurodegenerative ailments, immunologic ailments, and even getting older, the assertion says.
Frederik and his mom Julie, who labored for 15 years to lift consciousness across the illness, made a documentary about POLG from the attitude of Frederik and different sufferers.
The day earlier than his dying, Robert wrote, Frederik requested his father, “‘Papa, are you proud of me?’”
“He had barely been able to speak for several days, so the clarity of these words was as surprising as the weight of the moment was profound. The answer was very easy, and he had heard it oh so many times, but at this time, he needed reassurance that he had contributed all that he possibly could in his short and beautiful existence and that he could now finally move on,” Robert wrote. “We are all so very proud of you, Frederik.”
