Josiah's story, play video
There aren’t many kids like Josiah.
This almost-3-year-old has an irresistible grin, his own business cards, a Web site and a large circle of friends throughout the country. He also is one of only about 40 kids in the world who have been diagnosed with Hutchinson-Gilford Progeria syndrome, a genetic condition that often is referred to as “early aging disease.”
In many ways, he’s a typical toddler, says Josiah’s mother, Jennifer.
Though he’s small in stature, standing less than 2½ feet tall and weighing only about 14 pounds, he’s very active. He loves to play and has discovered that he prefers walking to being carried.
“On the outside, he may look healthy,” Jennifer says, “but we don’t know what’s going on on the inside.”
That uncertainty is inherent with Progeria. The average life span for a child with the condition is only 8 to 13 years, with strokes or heart attacks affecting patients at only 5 or 6 years of age.
Progeria also makes treatments for other conditions more difficult, and since Josiah has had more complications than most Progeria patients, he has had an especially difficult time. Much of his young life has been spent at Geisinger’s Janet Weis Children’s Hospital, with feeding issues at the forefront of his problems.
“He first came to us at about 5 weeks old with constipation,” says pediatric gastroenterologist William Cochran, MD. “More perplexing was his extremely poor growth. There didn’t seem to be any reason for him not to be absorbing the calories he was taking in.”
The malnutrition led to other problems as well, such as difficulty with wounds healing and a weakened immune system. He developed repeated infections that led to multiple hospitalizations. In addition, he suffered from severe reflux, which required surgery to correct.
Josiah was diagnosed with Progeria when he was almost a year old. That diagnosis provided some answers but also posed more questions about how to treat him.
“There were issues that were tough decisions to make: do we treat him because he’s doing so well overall or are we just prolonging the inevitable?” Jennifer remembers. “We determined that we would treat him as though he was going to get better. That’s how I wanted it to be done.”
After his surgery, one of the fears became reality: the swelling and the lack of elasticity in Josiah’s skin – a common aspect of Progeria – prevented doctors from being able to close the surgery site. With his underlying condition, there was no way to combat the infection that developed, and it seemed inevitable that the infection would claim Josiah’s life. Josiah might be able to hold on for minutes, hours or maybe days, doctors thought. He was transferred from the pediatric intensive care unit (PICU) to Children’s 2, the same floor of the children’s hospital where he first was admitted.
“The nurses on Children’s 2 have been not only nurses but friends and family,” Jennifer says. “I thought, ‘we started this journey on Children’s 2, and if it’s going to end, there’s no better place than Children’s 2.’”
To everyone’s amazement, however, days soon turned into weeks, and Josiah continued to make progress. He was able to go home under palliative care, and a few months later, Josiah had healed his abdominal wound.
“They never knew if Josiah would walk; they never knew if Josiah would talk. Despite the knowing that we’re not going to have a long life with Josiah, Josiah has beaten the odds numerous times,” Jennifer says.
“Josiah was critically ill for a significant period of time, but his mom was always focused on his recovery,” Dr. Cochran says. “She’s the best asset Josiah has.”
Since the diagnosis, Jennifer has become an advocate for Progeria research and education. She hopes her efforts will help diagnose another child earlier or will help further research about the condition. She adds that she is grateful for Dr. Cochran, who has played a “phenomenal” role in Josiah’s life and helped lead him toward a diagnosis more quickly than most Progeria patients. She also is grateful to have Janet Weis Children’s Hospital specialists within an hour of her home.
“It’s something most doctors will never see in their lives,” Dr. Cochran says. “Even with rare diseases like this, we’re fortunate that we have Janet Weis Children’s Hospital specialists who can really make a difference in these children’s lives.”
Despite everything, Jennifer says, Josiah is a happy boy who is able to walk, talk and play with his older sister, Daisha; each of those have been wonderful – and unexpected – milestones. While she knows her time with Josiah is limited, she has learned to cherish every moment with both of her children, and she is confident that Josiah will achieve everything he is meant to.
“I have to take each day for the here and now,” she smiles. “Now I’m just trying to cram into a couple of years what most people would experience in a lifetime.”