Progeria: The Rapid Aging Disease

Few things in life are as wonderful and momentous as the birth of your children. Parents share in the happiness that comes from watching their kids grow up, one birthday and milestone at a time. But not everyone gets to collect scrapbooks of baby photos and watch the height marks on the doorframe climb; because if your child randomly gets the genetic mutation for progeria, they’ll develop one of the rarest incurable diseases on earth, and you won’t even realize it until months after they’re born.

What is Progeria?

Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is an extremely rare genetic condition that causes rapid premature aging. It’s most commonly detected in children between 18 and 24 months. Children with progeria have bodies that grow up over days instead of years. They age so fast that by the time they’re three-years-old they look like miniature versions of a frail, bald, and disfigured 90-year-old.

Progeria was first observed back in 1886. Since then hundreds of individuals have been recorded in medical journals with the syndrome. As of December 2022, The Progeria Research Foundation reports currently 212 people in 51 countries that are living with the disease.

The good news is progeria is still extremely rare, even among those who carry the gene. That’s because it’s a condition that still needs a very specific set of circumstances for rapid aging to occur, and scientists are not clear yet on what triggers it. Your chances of getting it are around 1 in 4-8 million (0.000025%). That stat only jumps higher if you’re born into a family that already produced a child with progeria. So if your older sister was born with it, there’s a 2-3% chance you will develop it too.

Most children born with the disease die from strokes or heart attacks caused by their strained cardiovascular systems before their mid-teens, with the average lifespan hovering around 14. If the condition happens later in life, rapid-aging symptoms start fast, and your risk factors for injury, heart failure, and cancer soar as your life expectancy plummets.

Early Symptoms and Signs

Babies that have this condition are generally born without any symptoms, but there are a few tell-tale signs that may occur. Doctors have described infants born with abnormally tight and shiny skin from the upper thighs to mid torso. This usually coincides with an uncharacteristically thin and pointy nose, and/or a bluish tint to their skin and mucous membrane. But it is entirely possible that a baby will show no symptoms until 9-24 months of age when progeria hits hard, stunting growth, killing hair follicles, and changing the structure of the face and head.

In the first two years of life the face changes, caused by underdevelopment in the face and jaw bones. Features appear to collect in the center of the child’s face, making their skulls seem abnormally large in comparison. The eyes may appear strained and bulbous. Eyelashes, eyebrows, and all other hair on the face stops growing and begins to die at the root.

The nose, if not already underdeveloped, becomes smaller and sharper. The lips become thin. Ears remain abnormally small and ear lobes may disappear altogether. Teeth either fall out or grow misaligned and weak.

The skin loses its softness and begins to wrinkle, becoming more akin to the thinner skin of an elderly person, easily bruising and revealing prominent veins. Hair growth on the scalp also halts, and any hair that existed before the disease took hold falls out. Hair on the head might be replaced with the occasional thin wisps of white or light blond, but most people with progeria lose all body hair.

Height and weight stop increasing. Body fat under the skin disappears and weight retention is all-but impossible. The child’s frame becomes incredibly frail, and sometimes the collar bones develop poorly, causing narrow shoulders and a “pear-shaped” chest. The stomach can also appear swollen.

Their bones are easily fractured, especially their limbs, which are abnormally thin and poorly padded without fat or muscle. Few patients ever reach a height of 4 feet (1.2m), unless the disease becomes active later in life, but even those who had a childhood free of active progeria tend to remain smaller and weaker compared to their peers.

It’s a horrifying disease that steals time, but only in the body, because unlike natural aging, progeria leaves the mind free from senility and dementia. Children born with the condition experience little to no trouble with comprehension and memory, keeping up when it comes to normal learning and brain development.

How Progeria Infiltrates Your Cells

Progeria happens when a rare mutation in your cells tricks the body into thinking it’s a lot older than it actually is. The body begins to produce excessive amounts of progerin, a protein that breaks down the cell’s walls, leaving the DNA inside vulnerable to damage way ahead of schedule. The body races through the aging process in response to catch up, convinced the body is farther along in its lifespan than it is.

To better explain the science: If you haven’t taken high school biology in a while, just remember that cells are the smallest unit of life. They’re what make up all living organisms. A cell has three main parts: the membrane that protects it, the nucleus that contains our DNA, and the cytoplasm swirling around inside it holding everything together.

Progeria attacks that outer membrane, breaking down the cell’s framework and leaving the DNA inside your nucleus vulnerable to disease and decay. That’s why toddlers with the disease look like a miniature version of your grandparents, their brand new cells—the base unit of life—already look and perform like those of old people.

This cell damage resembles the natural aging process, because that’s what aging is—our cells slowly breaking down, signaling the changes that come with getting older. Usually, it takes a couple of decades to start that process, but children with progeria are born with that breakage already occurring, fifty or so years earlier than it should.

Adult-Onset Progeria

While the majority of reported cases occur in infants there is also a form of late-onset progeria also known as Werner’s Syndrome. It’s the same disease, but given a different name because it affects an adult population dealing with issues infants and children don’t experience: like fertility complications and rapidly-forming cataracts.

Werner’s starts attacking anywhere from late teens to late thirties. Because of the older body, adults with late-onset progeria start to experience hereditary diseases their bodies were destined for a lot faster than normal. By their twenties arteries harden and cataracts form—along with issues such as diabetes, strokes, osteoporosis, several types of cancer.

Individuals that develop progeria later in life are usually already living with bodies that have been fighting off the mutation for quite some time, with varying levels of success. That may mean they’re shorter-than-average, experiencing early thinning and graying of hair, and develop unusual facial features and skin damage.

As the adult with progeria ages internally, so does their external body. Adults that may have already started dropping weight from the loss of body fat also begin to lose muscle mass. Their skin’s color and texture changes. They may experience frequent ulcers, bruising, weakened bone structure, and even changes in their voice, which can become higher pitched.

If any of this is making you nervous because you’re short, thin, or bald sooner in life than you’d prefer, don’t sweat it. You only need to start worrying about progeria when those gradual signs of weakness and aging no longer remain gradual, and your body’s bones, muscle, skin, and systems begin to decline at a breakneck pace. Adults with this condition seem to age from 30-80 in a few short years after also losing their hair and teeth.

Treatment

As recently as November 2020, the FDA approved a branded drug called Zokinvy, which is a type of inhibitor therapy used for cancer, to treat people with progeria. It’s the first drug approved to treat the disease, a product of years of clinical trials made up mostly of children in the progeria community volunteering as test subjects.

So far Zokinvy has helped slow the decay for over 90 people since 2007. The average increase in life expectancy is only about two years, but it’s the most progress made in the disease’s history and advocates remain hopeful even better inhibitors will reach the market soon. Though you might want to get in on a clinical trial because in the U.S. 30 capsules of the drug cost $24,508 for families without insurance. There is no generic version available as of yet, and black market substitutes have been known to be fraudulent.

Living with Progeria

While the disease is terrifying and the cure seems impossible, individuals with progeria are some of the most optimistic and kind people you can imagine. Children raised knowing they probably will never get to grow up and lead normal lives are still playing with their siblings, dancing with their parents, learning to play instruments, and enjoying their favorite sports and movies like any other kids. You can follow patients’ joys and struggles on YouTube and in-depth interviews on talk shows. Some patients even shared they were even grateful for the disease, for making everything in life matter now and completely.

Let me introduce you to two people living with progeria and how they’re making a difference everyday, living the best lives they can while educating the public.

Tiffany Wedekind

Tiffany Wedekind of Ohio, age 45, is believed to be the oldest living person with adult-onset progeria and is passionate about sharing her story. Diagnosed at 38, she’s still passionately pursuing her art, business, and hobbies despite living with a body well-past her actual age.

She told People Magazine: “I knew very early that something was different about me,” “But I just wanted to live my life and be like everybody else.”

Tiffany always knew something was off about her. She had always been smaller than her friends as a toddler, but not drastically so. As a child she played softball and took dance lessons. As she grew up, she realized she wasn’t the same height and weight as her school mates, but she was still active in school activities and enjoyed a normal teenage social life.

But there were always signs something was wrong. Her growth stopped progressing normally by age 10, and as a preteen her height and weight halted at 4’5” and 58 lbs (1.4m and 26 kg) she knew before she entered high school that something was very wrong, but remained undiagnosed.

When Tiffany reached her early 20s she knew something far more serious was happening with her body than just being a lot shorter and skinnier than her friends. She was going bald, her teeth started to fall out. Her older brother, Chad (who also was small for his age) had also started suffering the same symptoms, only much worse, as he was already suffering from heart and bone complications. Both siblings were given a series of genetic tests for the root cause and both tested positive for progeria.

At 45 her life is still independent but she deals with heart disease, arthritis, and painful calcification in her joints. Her heart’s valves are quickly narrowing, and so she’s on constant alert for a heart attack, which is how her brother passed at age 39. She wears wigs and dentures, and mostly survives off a liquid diet.

Despite her disability and the loss of her brother she is actively creating art, making soy candles for her home business, and grateful for a daily yoga practice that keeps her body flexible and healthy as possible. Her optimism in the face of a badly dealt hand remains inspiring.

Sammy Basso

Sammy Basso of Tezze Sul Brenta, Italy, age 26, is the longest-living person with progeria. Having been born with the disease—he’s blown past his 14-year life expectancy.

Basso speaks publicly about his disease, bringing attention to the worldwide medical community while working towards a cure. Boots-on-the-ground working, because Sammy’s actively researching the disease as a scientist, having earned his degree from the University of Padua in Molecular Biology. He even put off some open-heart surgery so as to not miss any studying.

Sammy has dedicated his life to progeria outreach and education, including lots of media interviews and his own TED Talk. He also wrote a book “The Journey of Sammy” about a road trip he took along Route 66 while spending time in the US partaking in clinical trials. He even made sure to stop by Roswell, New Mexico and convinced the women at the museum gift shop he was an alien. Can’t say the man doesn’t have a sense of humor!

Sammy feels that any studies involving premature aging are valuable, especially in his home country of Italy where the median age is 47. Living in a country with an older population, he felt Italian scientists would rally to learn more about how to stop the effects of rapid aging. He was right, and founded the Italian Association Progeria Sammy Basso. It’s one of only two research organizations in the world for the disease.

Sammy is still active in the scientific community and has since completed his PHD. I’ll leave you with these words from him:

“The thing I would like them to learn by my experience is that their life is important…. They can be helpful for the world.”

Key Takeaways

• Progeria is a rare genetic condition causing rapid premature aging, often detected between 18-24 months.
• Children with progeria age rapidly, appearing like elderly individuals by age three, with a lifespan averaging 14 years.
• Progeria is triggered by a mutation producing excessive progerin, breaking down cell membranes and accelerating aging.
• The FDA approved Zokinvy in 2020, the first drug to treat progeria, extending life expectancy by about two years.
• Individuals with progeria often lead active, optimistic lives, contributing to research and public awareness.

Frequently Asked Questions

What is Progeria?

Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is an extremely rare genetic condition that causes rapid premature aging. It is most commonly detected in children between 18 and 24 months.

How rare is Progeria?

Progeria is extremely rare, with a chance of occurrence around 1 in 4-8 million (0.000025%). The chances increase to 2-3% if there is a family history of the disease.

What are the early symptoms of Progeria?

Early symptoms of Progeria include abnormally tight and shiny skin from the upper thighs to mid-torso, a thin and pointy nose, and a bluish tint to the skin and mucous membranes. These symptoms may not appear until 9-24 months of age.

How does Progeria affect the body?

Progeria causes the body to produce excessive amounts of progerin, a protein that breaks down the cell’s walls, leaving the DNA vulnerable to damage. This leads to rapid aging, stunted growth, loss of hair, and changes in facial structure.

What is the average lifespan of someone with Progeria?

Most children with Progeria die from strokes or heart attacks before their mid-teens, with the average lifespan hovering around 14 years.

Is there a treatment for Progeria?

As of November 2020, the FDA approved Zokinvy, an inhibitor therapy used for cancer, to treat people with Progeria. It has helped slow the decay for over 90 people since 2007, increasing the average life expectancy by about two years.

What is adult-onset Progeria?

Adult-onset Progeria, also known as Werner’s Syndrome, affects individuals in their late teens to late thirties. It causes rapid aging and associated health issues such as cataracts, diabetes, strokes, osteoporosis, and various types of cancer.

How many people are currently living with Progeria?

As of December 2022, The Progeria Research Foundation reports that there are 212 people in 51 countries living with the disease.

How does Progeria affect the mind?

Progeria leaves the mind free from senility and dementia. Children with the condition experience little to no trouble with comprehension and memory, keeping up with normal learning and brain development.

Who are some notable individuals living with Progeria?

Tiffany Wedekind, age 45, is believed to be the oldest living person with adult-onset Progeria. Sammy Basso, age 26, is the longest-living person with Progeria and is actively involved in research and advocacy for the disease.

Sources

• Original Into the Shadows video: Progeria: The Rapid Aging Disease
• Hero image source by Afficer / openverse, by-sa.

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