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 a statement posted on the web site of the POLG Basis, which Frederik cofounded in 2022 and was the inventive director of.
“Frederik fought his illness valiantly till the very finish,” Robert wrote. “His indomitable lust for all times propelled him by way 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 capability 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 those who he would by no means have identified had it not been for his illness,” and as soon as instructed a buddy, “‘Regardless that I’ll die from it … and even when my dad and mom would not have the time to avoid wasting me, I do know that they may be capable to 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 mass, and liver, and signs will be wide-ranging and debilitating. “One would possibly evaluate it to having a defective battery that by no means totally recharges, is in a continuing state of depletion and ultimately loses energy,” Robert wrote.
It’s additionally tough 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 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’s so relentlessly progressive, attacking so many various programs with sadly the identical conclusion.”
The illness can impression 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 provided $3.6 million of funding for 4 main analysis initiatives trying on the mechanisms of the illness and potential remedies, partnered with Columbia College on Challenge Butterfly to review autopsy tissues from two households with the POLG mutation, and developed a home-based device to evaluate adjustments in capabilities and illness development of sufferers with mitochondrial problems. 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 line with Robert’s assertion. Understanding the “basic position of mitochondria in well being and its failings in illness” will 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 boost consciousness across the illness, made a documentary about POLG from the angle of Frederik and different sufferers.
The day earlier than his dying, Robert wrote, Frederik requested his father, “‘Papa, are you pleased with me?’”
“He had barely been in a position to 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 straightforward, and he had heard it oh so many occasions, however presently, he wanted reassurance that he had contributed all that he probably might in his quick and exquisite existence and that he might now lastly transfer on,” Robert wrote. “We’re all so very pleased with you, Frederik.”
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