In the United States, there are only three people with a rare form of progeria of fast terminal aging disease.
Two of them are brothers Nathan and Bennett Falcone, a dynamic couple who play, play and joke like any other child their age.
Nathan, 13, and Bennett, who will soon turn 10, have mandibulo-acral dysplasia type B, the rarest form of a genetic condition that accelerates the aging of their cells to such an extent that sufferers have an estimated life expectancy of 13
But these two, who live in Erdenheim, Pennsylvania, with their parents and sister, refuse to sit down: they have just completed a clinical trial of a drug that has been shown to drastically slow the progression of the disease.
In addition, their captivating personalities have galvanized their entire community to boost research to find better treatments, and even a cure.
Fun Kids: Nathan and Bennett Falcone are playful siblings who bring their community together in Pennsylvania to fight for progeria research, their rare disease of rapid aging
Children (Nathan, 13 and Bennett, nine) are remarkably resilient thanks to clinical trials
They play, joke and play like other children their age, touching the hearts of the people around them
Progeria is a progressive genetic disorder that causes children to grow rapidly, beginning in the first two years of their life.
Children with Progeria do not have different characteristics at birth or during the first year, but as they reach two signs and symptoms such as slow growth and hair loss begin to appear.
Over time, their physical distinctions become more obvious: they remain much smaller than their bald and fragile counterparts. Progeria does not affect intellectual development.
The specific type that Nathan and Bennett (MADB) have affects the development of the lower jaw, the ends of the fingers and the skin. It is caused by a recessive gene that affects zinc levels.
In general, progeria patients die from a heart attack or stroke, the most common cause of age-related death. As with the elderly, their cholesterol levels increase, their arteries harden and their hearts struggle to pump blood in the same way as before, only that all this happens in their adolescence, instead of in their 80s.
Nathan, however, is doing remarkably well at the age that was thought to be his roof.
His family (his parents Phyllis and Mark and his sister) say that progress is always bitter, but they will never stop pushing for more research and funding.
Despite some spikes in cholesterol, children are doing well and do not have to return to their doctors in Boston for four years.
Both he and Bennett have been taking experimental FTI lonafranib for most of their lives, which has helped them gain weight and control their blood pressure, and two years ago they started a clinical trial for a new, everolimus.
Despite seeing some peaks in cholesterol, both are expected to strengthen for at least another four years.
Even more encouraging, her family has touched the hearts of her community, who meet regularly to hold fundraising events for more research.
Researchers struggle to obtain funding, since progeria only affects one in six million children. Investors prefer to fund something with & # 39; results & # 39; negotiable. Leukemia, for example, (one of the most treatable cancers) receives the vast majority of cancer research funds, while DIPG (the least treatable) hardly receives any.
Speaking at a recent fundraising event in her city, however, her mother Phyllis explained to Chestnut Hill Local why progeria research should be important to everyone.
It is a disease of rapid aging, he explained. The general population is aging. Heart disease (which usually kills those with progeria) is the biggest cause of death in the world. Research is the only way to save the lives of your children. It can also help others, even without Progeria.
"It's a race against time to find a cure," Phyllis told Chestnut Hill.
Everyone who knows them is moved by their hilarious personalities and lead
She added: "One of Nathan's arteries in his heart is slightly dilated, so we should have him follow the cardiology to make sure it does not get worse."
But based on their latest evaluations, doctors running their clinical trial in Boston said they do not need to return for four years while they continue to take their current medication.
Phyllis put it in perspective in an emphatic email to Chestnut Hill: FOUR YEARS! In a race against time that seems like a long time!
However, ultimately, such progress is, at least for now, always bitter and sweet.
& # 39;[S]"Good news and bad news," he told the newspaper, "but it's always emotional to focus on progeria, hear words like 'mortality', see our children pass all the tests and listen to everything that is & # 39; 39; badly & # 39; with our guys when there are so many CORRECT things! & # 39;