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.
Tragic events bring orphan colt, mare together
An orphan colt whose mother died shortly after giving birth has a new mom – a mare that had tragically lost her foal – thanks to the generosity of strangers and Washington State University veterinarians playing matchmaker.
Pairing an orphan foal and a nursing mare is a challenging task and one that commonly ends with failure. In this case, the connection was instantaneous.
“The mare had only been without a foal for about 24 hours,” Dr. Lisbeth Matthews, an equine medicine and surgery intern, said. “We walked her into the Veterinary Teaching Hospital and past him. He made a noise, and she went, ‘oh, there’s my foal,’ and started making noises back at him.”
It was a surprise to everyone how quickly the mare, named Shelly but affectionally called Mama by her owners, Roy and Faye Lions, accepted the colt. Equine veterinarian Jenifer Gold, who was helping to care for the foal and to supervise its introduction to the mare, said nursing mares frequently reject orphan foals, and when they don’t, the pairing process often takes days.
“She walked in and started nickering at him like it was her own baby – it was unbelievable,” Gold said. “I’ve been doing this for 20 years, and I have never seen it happen that way.”
The foal, which has been named Laredo, was admitted to the teaching hospital by his owner, Spokane resident Rachel Williams, just days after he was born when he started showing troubling digestive issues. Shortly after the colt arrived in Pullman, Faye Lions placed a call to WSU to see if the equine team was aware of any orphan colts needing a nursing mare.
“Our foal was dead, and nothing was going to bring it back, so we were hoping we could help someone else,” Faye Lions said. “It just so happened there was a foal there.”
A day later, the colt and Shelly were introduced.
“For them to be so willing to basically hand over their animal to a complete stranger after experiencing their own tragedy was pretty phenomenal,” Williams said. “I feel like in this scenario it was the worst of the worst for everybody, but there was a little bit of silver lining to the story.”
Williams is also grateful for the care and treatment she and her foal received at WSU.
“I just can’t even find words to say how great the veterinarians at WSU were,” she said. “They went above and beyond. I am just happy I ended up at WSU. I am so glad we were able to match those two up – it is kind of a miracle.”
Shelly will live with Williams until the colt is ready to be weaned, likely in six months, before she will return to her home in Kamiah, Idaho.
“It will be tough to say goodbye because you just naturally start to bond with animals, and she has kind of been my lifesaver,” Williams said. “It will be bittersweet for sure, but I am sure her owners will be happy to have her back.”
During the spring, the equine team at WSU typically sees at least a handful of orphan foals. Equine medicine specialist Dr. Macarena Sanz said orphan foals can be fed a powdered milk formula designed for horses, but those raised by humans typically develop behavioral issues that can become problematic as the animal matures.
“They turn out to be socially weird, have no understanding of personal space, and they are more difficult to train,” WSU equine veterinarian Macarena Sanz said. “The fact that this orphan foal has a mare is really going to make a difference.”
Sanz strongly encourages owners to immediately call their veterinarian if a foal is orphaned, as early care is critical to the animal’s survival.
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