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 generally known as POLG.
His father introduced his passing on March 7 in a statement posted on the web site of the POLG Basis, which Frederik cofounded in 2022 and was the artistic director of.
“Frederik fought his illness valiantly till the very finish,” Robert wrote. “His indomitable lust for all times propelled him by means of the toughest of bodily and psychological 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 is aware of that he’s my Superhero,” Robert wrote. “A part of his superpower was his skill to encourage and to guide by instance.”
He even expressed gratitude for having his illness, Robert wrote. “He felt that there have been so many wonderful people who he would by no means have recognized had it not been for his illness,” and as soon as instructed a buddy, “‘Though I’ll die from it … and even when my dad and mom shouldn’t have the time to avoid wasting me, I do know that they may be capable of save different kids.’”
What’s POLG?
POLG illness is a mitochondrial dysfunction brought on by inherited mutations within the POLG gene—which is important to the processes of replicating cells’ genetic materials and DNA restore. The illness, which has no treatment, impacts a number of organs, together with the mind, nerves, muscle tissue, and liver, and signs will be wide-ranging and debilitating. “One would possibly evaluate it to having a defective battery that by no means absolutely recharges, is in a relentless state of depletion and ultimately loses energy,” Robert wrote.
It’s additionally troublesome to diagnose. Whereas it’s one of many most common inherited mitochondrial diseases, affecting around 1 in 10,000 people, it’s thought of a uncommon illness. Molecular genetic testing for the mutation exists, and the illness may also be detected by means 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 laborious for even physicians to establish. Frederik was identified 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 illnesses. “It’s so relentlessly progressive, attacking so many alternative techniques with sadly the identical 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 yr tenure, the muse has provided $3.6 million of funding for 4 main analysis tasks wanting on the mechanisms of the illness and potential therapies, partnered with Columbia College on Challenge Butterfly to review autopsy tissues from two households with the POLG mutation, and developed a home-based software to evaluate adjustments in features and illness development of sufferers with mitochondrial problems. This yr, the group is launching the primary worldwide POLG pure historical past examine 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 muse, 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 response to Robert’s assertion. Understanding the “basic position of mitochondria in well being and its failings in illness” will be utilized to different illnesses like most cancers, neurodegenerative illnesses, immunologic illnesses, 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 angle of Frederik and different sufferers.
The day earlier than his loss of life, Robert wrote, Frederik requested his father, “‘Papa, are you happy with me?’”
“He had barely been capable of communicate for a number of days, so the readability of those phrases was as shocking as the load of the second was profound. The reply was very simple, and he had heard it oh so many occasions, however right now, he wanted reassurance that he had contributed all that he probably may in his brief and delightful existence and that he may now lastly transfer on,” Robert wrote. “We’re all so very happy with you, Frederik.”
