Hutchinson-Gilford Progeria Syndrome: A Rare and Fatal Genetic Disorder

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Aging is a natural part of life, but there are some conditions that rapidly speed up the process. One of them is called Hutchinson-Gilford progeria syndrome, and it’s a rare genetic condition that causes a dramatic appearance of aging that starts in childhood.

Hutchinson-Gilford-Progeria-Syndrome-Explainer-GettyImages-769722633 Credit: Getty Images / Design by Jo Imperio

Hutchinson-Gilford progeria syndrome recently made headlines after YouTube star Adalia Rose died of the condition at the age of 15. “January 12, 2022 at 7pm Adalia Rose Williams was set free from this world,” reads a post shared on her Instagram account. “She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her.”

Williams regularly posted about her condition and life on YouTube, where she built up nearly 3 million followers.

Adalia Rose: The Girl Who Ages Too Fast-Embed-Health-GettyImages-1026919380 Credit: Getty Images

Hutchinson-Gilford progeria syndrome isn’t a condition most people are familiar with, and you probably have some questions about what it is and how it affects people. Here’s what you need to know.

What is Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome, aka progeria, is a fatal genetic condition that causes children to develop symptoms that resemble premature aging, according to the US National Library of Medicine. It’s very rare, affecting one in 4 million newborns around the world.

Hutchinson-Gilford progeria syndrome is caused by a single genetic mutation, per the Mayo Clinic. That particular gene, which is called lamin A (LMNA), makes a protein that’s necessary for holding the nucleus of a cell together. When this gene has a mutation, an abnormal form of LMNA called progerin is produced, making cells unstable, and leading to the sped-up aging process.

It’s rare for parents to pass this gene down to children, Susan Dulkerian, MD, chair of the Department of Pediatrics and medical director of Newborn Services in The Family Childbirth and Children’s Center at Maryland’s Mercy Medical Center, tells Health. Instead, it’s usually a “new mutation of the gene that was not present in either parent.”

There are other conditions that can cause premature aging, but “now that we know the gene that actually causes it, we can definitively diagnose someone with Hutchinson-Gilford by finding the change in the LMNA gene,” Caleb Bupp, MD, division chief for genetics at Spectrum Health in Michigan, tells Health.

What are the symptoms of Hutchinson-Gilford progeria syndrome?

People with the condition usually have a normal appearance as babies but, between nine and 24 months, start to show symptoms of the disease. “Early on, in the first couple of years of life, you might get a hint that someone has Hutchinson-Gilford progeria syndrome with a kid that wasn’t growing as much and has a distinctive look,” Dr. Bupp says. Besides a below-average height and weight, the Mayo Clinic lists these as other symptoms of progeria that give children that “distinctive look”:

Narrowed face, small lower jaw, thin lips and beaked nose

A head that’s disproportionately large for the face

Prominent eyes and incomplete closure of the eyelids

Hair loss, including eyelashes and eyebrows

Thinning, spotty, wrinkled skin

Visible veins

High-pitched voice

“Some pediatricians may spot the physical signs, but most people would not recognize the features of Hutchinson-Gilford progeria syndrome because it’s an extremely rare condition,” Milen Velinov, MD, PhD, associate professor of pediatrics and chief of the Division of Medical Genetics at Rutgers Robert Wood Johnson Medical School in New Jersey, tells Health. But once doctors do have a suspicion that a child may have Hutchinson-Gilford progeria syndrome, or if they notice that the child is not growing and there’s no obvious reason for it, the family “would usually be referred to a geneticist to look for changes in the genes,” Dr. Velinov says.

What are the potential complications of Hutchinson-Gilford progeria syndrome?

People with Hutchinson-Gilford progeria syndrome tend to develop the following health issues, according to the Mayo Clinic:

Severe progressive cardiovascular disease

Hardening and tightening of skin on the torso and extremities

Delayed and abnormal tooth formation

Some hearing loss

Loss of fat under the skin and loss of muscle mass

Skeletal abnormalities and fragile bones

Stiff joints

Hip dislocation

Insulin resistance

The condition does not impact a person’s intellectual development or motor skills like sitting, standing, and walking, per the US National Library of Medicine.

Hutchinson-Gilford progeria syndrome is a fatal disease. “Most die in their teens from complications of cardiovascular disease,” Dr. Dulkerian says. The average life expectancy for someone with the condition is 13 years, though some patients may live up to 20 years, the Mayo Clinic says. South African DJ and artist Leon Botha is believed to have been one of the oldest-living people with progeria, having died in 2011 one day after his 26th birthday.

How is Hutchinson-Gilford progeria syndrome treated?

Unfortunately, Hutchinson-Gilford progeria syndrome can’t be cured. Instead, care is “mainly focused on treatment of symptoms—management of cardiovascular disease, physical therapy, and a recently approved medication called lonafarnib,” Dr. Dulkerian says.

The US Food and Drug Administration approved lonafarnib for the treatment of Hutchinson-Gilford progeria syndrome in November 2020. It’s an oral medication that helps prevent the buildup of defective progerin or progerin-like protein. Research has shown that the lifespan of patients with Hutchinson-Gilford progeria syndrome who take lonafarnib is increased by an average of three months through the first three years of treatment and by an average of 2.5 years through 11 years.

Lonafarnib “gives hope,” Dr. Bupp says. “This is a condition that is pretty challening—we know that the lifestpan is capped at 20 years,” he continues. “That is heartbreaking. When you have the possiblitiy of finding a treatment for it, it’s incredibly exciting.”

People with Hutchinson-Gilford progeria syndrome may also be treated with the following, according to the Mayo Clinic:

Low-dose aspirin to help prevent heart attacks and stroke

Other medications to lower cholesterol and blood pressure and to prevent blood clots

Physical and occupational therapy to help with joint stiffness and hip problems

Nutritious, high-calorie foods and supplements to maintain weight

But even though there are now these better treatments for Hutchinson-Gilford progeria syndrome, the lifespan of people with the condition is still short. “Unfortunately, progeria patients experience a downhill course that involves many systems of the body, leading inevitably to death at a very young age,” Robert Hegele, MD, a professor of medicine at the University of Western Ontario who has researched Hutchinson-Gilford progeria syndrome, tells Health.

Adalia Rose, YouTuber with rare genetic condition, dies at 15

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Adalia Rose, known worldwide as a YouTuber who suffered from a rare genetic disease, has died. She was 15 years old.

“January 12, 2022 at 7pm Adalia Rose Williams was set free from this world,” a post published on her Facebook and Instagram accounts stated. “She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her.”

The post continued: “She is no longer in pain and is now dancing away to all the music she loves. I really wish this wasn’t our reality but unfortunately it is. We want to say thank you to everyone that loved and supported her. Thank you to all her doctors and nurses that worked for YEARS to keep her healthy. The family would now like to mourn this huge loss in private.”

Rose lived with a rare genetic condition called Hutchinson-Gilford progeria syndrome (HGPS). According to the National Organization of Rare Disorders, the disease is a “rare, fatal, genetic condition of childhood with striking features resembling premature aging.”

Children with progeria usually have a normal appearance in early infancy, but at approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight.

NORD added children with progeria die of heart disease (atherosclerosis) at an average age of 14.5 years.

Williams had nearly 3 million subscribers on YouTube, where she shared videos of makeup tutorials and other content that displayed her day-to-day life. She also had more than 400,000 fans on Instagram.

Many followers and people reached out on social media to pay tribute to Williams and offer condolences to her family.

Fashion designer Michael Costello, who designed dresses for the teenager, spoke out on social media after learning of Williams’ passing.“My heart is broken,” Costello wrote on Instagram. “I am at a loss for words and cannot stop crying. Adalia has been so special to every single person that she met. She was an angel. Despite the cards she was dealt with, she had the most positive attitude and such big dreams of helping everyone around her. I love you so much Adalia… Words cannot convey how much you’ve changed my life. I will miss you dearly, friend, and I promise to cherish all the wonderful memories we’ve had together.”

A GoFundMe ‘Memorial for Adalia Rose’ account has been set up by the family, where contributions raised will “go towards funeral costs and medical expenses.”

Teen YouTuber with ‘Benjamin Button’ disease dies at 15

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American YouTube sensation Adalia Rose Williams, who was born with a rare condition known as the “Benjamin Button” disease, died Wednesday at the age of 15, according to her Facebook page.

The announcement of the death of Williams, who was diagnosed as a baby with Hutchinson-Gilford progeria syndrome and shared details of her life with the rare genetic disease with her YouTube fans, was met with heartbreak from her fans. More than 170,000 comments were left on the page, which had been shared more than 115,000 times.

“ Adalia Rose Williams was set free from this world,” the announcement on her Facebook page read. “She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her. She is no longer in pain and is now dancing away to all the music she loves.

“I really wish this wasn’t our reality but unfortunately it is. We want to say thank you to everyone that loved and supported her.”

Williams, who hailed from Austin, Tex., was diagnosed with progeria when she was three months old and was one of around 400 children worldwide who are living with the disease. She had reportedly lost her hearing less than a month ago.

Despite being afflicted with an incurable syndrome that causes rapid aging, slowed growth and hair loss, the teen was a sensation on YouTube , attracting nearly 3 million subscribers to her channel.

“ This makes me so sad,” one follower said on Facebook. “Adalia Rose brought so much love and joy to the world. May she rest in peace.”

“My heart is broken hearing this new,” wrote another. “Your baby was is and forever will be a superhero to me she is a shining light. I will forever remember her.”

The disease Williams was living with is often called the “Benjamin Button” disease after the 2008 film ‘ The Curious Case of Benjamin Button ,’ which starred Brad Pitt in the titular role. The movie’s character ages in reverse before eventually dying.

How Adalia Rose touched the hearts of millions including J.Lo’s dress designer as real life Benjamin Button girl dies

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SHE was the YouTube star who touched the hearts of millions while chronicling her battle with real life Benjamin Button disease.

And Adalia Rose Williams is leaving behind a huge legacy after her family announced she passed away on Thursday aged 15.

6 Though tiny in size, Adalia has left a huge mark on the world Credit: Instagram

6 Her positive and fearless attitude was inspiring to millions Credit: YouTube

6 Natalia and her husband, Ryan Pallante - Adalia’s stepfather - are now mourning the loss of their only daughter Credit: Barcroft Media

As a popular content creator, she chronicled her battle with Hutchinson-Gilford progeria syndrome on social media while becoming a voice for diversity and anyone suffering through illnesses.

Adalia Rose was diagnosed with with the progeria syndrome - a genetic condition that affects less than 500 children around the world - as a baby.

The condition also causes rapid ageing and hair loss as well as difficulty with the voice and joints.

She advocated for others to “be kind” after becoming a target of cruel trolls who sent vile messages to the YouTube star calling her “ugly” or wanting to hurt her. Some even told her to kill herself.

But social media was often a place where Adalia could inspire hope to others going through their own struggles.

As well as health updates, Adalia Rose often posted inspirational messages and showed her fearless attitude moving one day to the next.

Among those to celebrate the life Adalia lived and her radiating positivity was Jennifer Lopez’s designer Michael Costello.

He designed dresses for Adalia Rose’s 13th birthday in 2019 and took to social media to share his devastation while remembering her strength.

Michael wrote: “My heart is broken. I received a message at 7pm last night, Adalia Rose Williams was called home to God.

“I am at a loss for words and cannot stop crying. Adalia has been so special to every single person that she met. She was an angel.

“Despite the cards she was dealt with, she had the most positive attitude and such big dreams of helping everyone around her.

“I love you so much Adalia… Words cannot convey how much you’ve changed my life.

“I will miss you dearly, friend, and I promise to cherish all the wonderful memories we’ve had together.”

What is Progeria? Hutchinson-Gilford Progeria Syndrome, otherwise known as Progeria or HGPS, is a rare and fatal genetic condition. Another progeria syndrome is Werner’s syndrome, otherwise known as “adult progeria”. This type does not manifest itself until the late teen years, and sufferers have a life expectancy into their 40’s and 50’s. There are thought to be 100 known cases in the world, and according to a study from the Netherlands it affects one in four million births. Progeria does not affect the reproductive organs, and there have been cases of women with the condition giving birth to healthy babies.

Her mum Natalia created a Facebook page for Adalia Rose in 2012 when her daughter was only five years old, where the family received messages of support and encouragement.

Speaking to NBC Bay Area News in 2012, Natalia implored parents to teach their children kindness and compassion, faced with a deluge of hateful bullying campaigns, especially from teenagers.

Natalia said: “I will turn blue with saying that – educate, educate your kids.”

Natalia and her husband, Ryan Pallante, who is Adalia’s stepfather, are now mourning after they lost their only daughter.

Adalia Rose Williams was called home to God… Adalia has been so special to every single person that she met. She was an angel Michael Costello

In a post to Instagram, a heartbroken family member told Adalia’s 405k followers she had died.

The post said: “January 12, 2022 at 7pm Adalia Rose Williams was set free from this world.

“She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her.

“She is no longer in pain and is now dancing away to all the music she loves. I really wish this wasn’t our reality but unfortunately it is.

“We want to say thank you to everyone that loved and supported her. Thank you to all her doctors and nurses that worked for YEARS to keep her healthy.”

The teenager amassed over 2.91million subscribers on YouTube.

Her last video was released just one month ago, titled “Meet Baby Luka” and received 303,000 views.

6 Adalia Rose racked up millions of views on YouTube Credit: Barcroft Media

6 Adalia will be sorely missed after her family announced she passed away on Thursday Credit: Barcroft Media

6 She was diagnosed with with the progeria syndrome as a baby Credit: Barcroft Media

YouTube Star Adalia Rose Williams Dies Aged Just 15

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@adalia06/Instagram

YouTuber Adalia Rose Williams, who had ‘Benjamin Button disease’, has died at the age of 15.

The Texas teenager was diagnosed with Hutchinson-Gilford progeria syndrome when she was just three months old, her mother Natalia Pallante said. It’s a rare, progressive genetic disorder, affecting fewer than 500 children across the world, which causes children to age rapidly within their early years.

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While some live on into their adult years, the average life expectancy of a child with the condition is around 13 years, with heart problems and strokes the most common causes of death.

Williams was ‘set free from this world’ on Wednesday, January 12, according to a statement posted to her social media accounts.

‘She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her. She is no longer in pain and is now dancing away to all the music she loves,’ it read

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‘I really wish this wasn’t our reality but unfortunately it is. We want to say thank you to everyone that loved and supported her. Thank you to all her doctors and nurses that worked for YEARS to keep her healthy. The family would now like to mourn this huge loss in private.’

Designer Michael Costello, who fashioned Williams’ birthday dresses back in 2019, also posted a statement.

‘My heart is broken. I received a message at 7pm last night, Adalia Rose Williams was called home to God. I am at a loss for words and cannot stop crying. Adalia has been so special to every single person that she met. She was an angel. Despite the cards she was dealt with, she had the most positive attitude and such big dreams of helping everyone around her,’ he wrote.

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‘I love you so much Adalia… words cannot convey how much you’ve changed my life. I will miss you dearly, friend, and I promise to cherish all the wonderful memories we’ve had together.’

Her Facebook page has more than 12 million followers, as well as 2.91 million subscribers on YouTube and 404,000 followers on Instagram.

Among the thousands of comments, one user wrote, ‘My heart breaks to hear this. I was lucky to have met her and to see how amazing she was. She touched so many people with her amazing energy. I’m so sorry for your family’s loss.’

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