In a small Brazilian town, there resides an extraordinary duo of identical twins named Elis and Eloá. Their story serves as a beacon of resilience and the remarkable power of the human spirit. Afflicted with Hutchinson-Gilford Progeria Syndrome, a rare and fatal genetic disorder causing accelerated aging, these twins confront their adversities with remarkable grace and strength, earning admiration from people worldwide.
Understanding Hutchinson-Gilford Progeria syndrome
HGPS stands as an exceptionally rare disorder, impacting roughly 1 in 20 million newborns globally. Marked by rapid aging from early childhood, individuals with progeria often display growth delays, diminished body fat and hair, prematurely aged skin, joint stiffness, and severe cardiovascular issues. Typically, those with HGPS have an average life expectancy of about 14.5 years, though some may extend into their late teens or early twenties. This syndrome gained public attention through the film The Curious Case of Benjamin Button.
The condition is caused by a mutation in the LMNA gene, which produces the lamin A protein responsible for maintaining the structural integrity of the cell nucleus. The mutation results in the production of an abnormal version of the protein, called progerin, which causes cells to become unstable and die prematurely.
Elis and Eloá’s journey
Elis and Eloá swiftly captured attention because of their distinctive medical condition. Despite the physical hurdles imposed by progeria, their contagious smiles and steadfast optimism have emerged as beacons of hope and inspiration. Guilherme and Elismar, the twins’ parents, have dedicated their lives to offering the utmost care for their daughters, striving to ensure they experience as normal a life as feasible within the confines of their condition.
The family’s path has been far from easy. Their daily life is filled with demanding medical routines, including physiotherapy, aimed at addressing joint stiffness and preserving mobility. Despite these challenges, Elis and Eloá approach each day with remarkable bravery and an unparalleled enthusiasm for life, which is truly remarkable.
A global community of support
Elis and Eloá’s narrative has touched hearts worldwide, sparking a surge of solidarity from individuals and groups committed to promoting awareness about progeria and backing research endeavors. The Progeria Research Foundation, a pivotal entity in this realm, has played a vital role in propelling research forward and furnishing assistance to families grappling with the condition.
Through social media platforms, the twins’ journey is shared with a broad audience, fostering a sense of community and solidarity. Their family’s updates, documenting both the highs and lows of their daily lives, provide invaluable insights into the realities of living with progeria, while also spreading a message of hope and perseverance.
Advances in research and hope for the future
In recent years, there have been remarkable advancements in comprehending and addressing progeria. A notable milestone occurred in 2020 when the U.S. Food and Drug Administration (FDA) granted approval for the first progeria treatment: lonafarnib. This medication has demonstrated efficacy in prolonging the lives of children with progeria by mitigating the accumulation of progerin in cells, thereby decelerating the disease’s advancement.
Though a cure remains elusive, ongoing research presents promising prospects. Scientists are delving into gene-editing methodologies, like CRISPR, as potential means to rectify the genetic mutation at its root. For families such as Elis and Eloá’s, these breakthroughs offer a ray of hope for the future.
And in our other article, we recounted the remarkable story of a girl born without a nose, affectionately dubbed “Voldemort,” who refuses to let her differences define her.
Woman with rare skin condition overcomes negativity and finds true love
Thanks to the rise of social media, we’re all bombarded with images of seemingly perfect-looking people; it seems as though the world has become even more shallow in how people are judged.
For those of us that don’t fit the stereotypical “perfect” mold, the world can seem very cruel, with complete strangers feeling it necessary to criticize someone based on their appearance on social media.
Karine de Souza knows this more than anyone. The Brazilian has spent her life covering her skin in SPF100 sunscreens – even when she’s inside her home – due to her rare skin condition.
The 33-year-old was diagnosed with Xeroderma Pigmentosum when she was three years old which means she is at high risk of skin cancer.
Her ”one-in-a-million” condition, which is incurable, means she is highly sensitive to UV rays as she lacks the ability to repair any damage the sun causes to her skin.
Just a few minutes in the sun can mean incredibly painful sunburn for her. Growing up, she was often isolated from the outside world because it was too dangerous for her to spend too much time outside her house.
“When I expose myself to the sun it doesn’t happen in the moment, I don’t feel anything. However, in the future, the lesions appear and need to be removed because of cancer,” she said.
Karine has had to endure 130 surgical procedures to remove lesions caused by the sun, including the removal of her lower lip and part of her nose.
Sadly, it is not only a physical battle she has to endure. Karine often gets stared at in the street and has been the victim of verbal abuse both within her community and online.
But despite her suffering, she remains upbeat and happy and has even found love.
She met her husband Edmilson through social media, who fell in love with her “story and her strength.” Edmilson has always stood by Karine’s side, and he knew he wanted to spend the rest of his life with her.
He also decided to embrace Karine’s three children from her previous relationship, which of course, meant a lot to Karine.
”He came and he showed me that I could live a true love story”, she says.
But after posting photos of them together online, Karine was once again exposed to a whole host of offensive comments.
”We have already read many offensive comments calling me a monster, deformed, a zombie,” Karine said.
Other comments suggested that their relationship wasn’t genuine and that Karine was a ”sugar mommy,” and that she must be very rich.
”Because of the fact he’s a young man and pretty, that caught people’s attention and they didn’t believe that he was with me because he really liked me,” Karine said.
A photographer who captured the couple after they got engaged posted a selection of the images online and wrote:
”In a world where appearance matters more than the feeling, they met not by chance, but by a gathering of souls, an encounter of acceptance and character and love emerged when their souls met and today you are the inspiration to so many people who do not believe in themselves, in life and especially in love.
“THANK YOU every day for being who you are. STOP complaining for being like you are. HUG LIFE, and accept yourself. Much gratitude for teaching me so much. You guys are AMAZING. You are the missing hope in so many people. Thank you for the big hug, and for the wonderful day we experienced together. I carry your smile with me forever.”
His heartfelt words and beautiful images he captured of Karine and Edmilson went viral, and thousands of people commented, congratulating the couple.
Karine wants others to realize the importance of being positive.
”Be happy, smile, because life happens only once,” she said.
In 2023, Karine and Edmílson welcomed a baby girl into the world, and they couldn’t be happier! Their daughter, Zaia, was long awaited – Karine and her husband had been trying for a baby since 2020.
Karine has been through so much but thanks to her positive attitude she has found the happiness she deserves.
Her story is inspirational so help us inspire others in similar situations by sharing this story with your friends and family.
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