Lifestyle

Meet Twins with the Rare Benjamin Button Syndrome, Who Became Symbols of Resilience

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4d ago

Oct 23, 2024 / 3100 Views

Evan Walker

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.

Parents were really surprised when their baby was born with a big smile on its face.

Ayla Summer Mucha startled her parents by beaming brightly when she was born in December 2021. Her parents fell in love with her right away, despite their first confusion due to an unusual illness that caused her smile to be permanent. Ayla is now well-known on social media, and her charming smile is adored by people everywhere.On December 30, 2021, Cristina Vercher and her husband Blaize Mucha were eager to finally see their newborn girl after nine months of waiting. However, unexpected news was delivered by the doctors during the C-section delivery.Due to bilateral macrostomia, Ayla Summer Mucha’s mouth did not form normally from birth.When a baby is growing inside its mother, the corners of the mouth sometimes don’t meet correctly, a condition known as a facial cleft. Just 14 cases similar to it have been documented in medical books due to its extreme rarity.Because the ultrasounds revealed no issues, Ayla’s parents were unaware of this until after she was born. They became really concerned when they noticed that she was speaking with her mouth agape. Even though Ayla was so small, the problem was evident, which startled and worried Ayla’s parents, who are now 23 and 22 respectively.”I had never met anyone born with a macrostomia, and neither Blaize nor I knew about this condition,” Adelaide’s Vercher remarked. Thus, it came as a huge surprise.Not just the parents expressed surprise.

A baby with bilateral macrostomia was beyond the capabilities of even the medical professionals.The fact that it took hours for a doctor to respond to our questions made it much more concerning. She added that the hospital was also ignorant of this uncommon ailment. “As a mother, all I could focus on was my mistakes.”However, medical professionals informed the anxious parents that there was nothing more they could have done. Cristina was concerned that she might have erred during her pregnancy or contributed to her daughter’s illness.She remarked, “I couldn’t stop wondering where I might have made a mistake as a mother.” They were convinced, nevertheless, that they had no iNFLuence over this problem and that they were not to blame following days of genetic testing and scans.The Mucha family concentrated on assisting Ayla in managing her illness, which limits her food and drink options, comfortably. Babies with this illness occasionally require surgery to become better.Ayla’s parents posted her story on social media so that people may learn more about it. Around 6.5 million users enjoyed Ayla’s adorable smile on TikTok. The amount of support that the Muchas received shocked them.”I just looked it up, and there are only 14 cases like hers that are known,” a commenter said. She is truly unique. Mom, you ought to feel proud.Regarding Ayla’s smile, another internet user stated, “She is gorgeous and just perfect the way she is.” Her smile made me smile as well.But nasty things about Ayla were said by several people online. But Ayla’s supporters swiftly came to her aid.”Your daughter is stunningly gorgeous. Never pay attention to such nasty folks. One individual remarked, “She’s like an angel.” Someone else posted, “Oh my gosh! You’re quite adorable! Pay no attention to their hurtful remarks. You’re simply too cute.”You’re a strong mom, and your daughter is beautiful,” commented another commenter. I apologize for exposing you to those hurtful remarks.Vercher said, “I think it’s important to be kind and accept everyone, no matter what,” to the hurtful remarks made about her child.If she and her child were in a similar circumstance, she hoped that people would treat them with the same respect. Vercher said that anyone could experience similar circumstances. She added that since you have no control over what other people say on social media, it can be a difficult place.Vercher ignored the criticism in favor of highlighting the encouragement and kind remarks. “We’re really proud of ourselves, so we won’t stop sharing our experiences and favorite memories,” she remarked.