What's Carbon Deputy Jace Marietti Doing now
Despite living with one of the most rare and difficult genetic syndromes on the planet, Jace Marietti keeps striving for and attaining goals that daunt those living with a clean bill of health.
After six years of living in a doctor's office, Marietti was diagnosed with Cockayne Syndrome at the age of seven. The rare disorder was supposed to kill Marietti before his 12th birthday and yet he will turn 18 on Sept. 27.
In addition to beating his projected lifespan by more than six years, he also is the youngest individual to ever become a deputy within the Carbon County Sheriff's Office. In March, Jace was honored by hundreds of local residents at Carbon High as law enforcement officials from around the state made their way to Price in order to swear Marietti in as an honorary deputy.
Cockayne Syndrome (CS) is characterized by developmental abnormalities and photodermatosis causing a child's cells to be continually damaged by UV light. And once they are damaged, those affected lack the ability to repair their cellular genetics.
One of the major effects of the syndrome is premature aging, which causes those affected to live within the body of an 80 year old before they reach the age of 10. Additional maladies include hearing loss, eye abnormalities and problems with most major organs.
Persons with this syndrome also tend to suffer from microcephaly (a smaller than average head) and are of short stature.
The rare type of CS Jace suffers from is called combined xeroderma pigmentosum. Jace's mutation is located on the XPF gene.
"Jace is one of only three people worldwide to be diagnosed with this type of CS and so his health and deterioration have been documented by some of the best doctors in the world," said Jace's mom Valerie Marietti.
According to Valerie, she first learned of CS from a dermatologist who was treating Jace. It is an experience she will never forget.
"She said he had Cockayne Syndrome, it's fatal and there is no treatment. So you need to get with your geneticist and neurologist and get ready for him to die. She didn't even write the name of the syndrome down for me," said Valerie. "Thank God my sister was with me because I was broken by what I had heard and woman just left me there."
Valerie has learned to take the good with the bad as she and Jace have had the opportunity to work with some of the world's best doctors. Partly because of her tenacity, partly because of the rarity of his condition.
"We knew something was wrong by the time he was a year old," she explained. "He wasn't advancing the way a normal kid would. So we built a bottom apartment for him at our home. And then spent years trying to find out what was the matter with our Jace."
According to Valerie, one of the most difficult things about CS is the isolation the disease causes. Because those affected can't go outside, they experience a great amount Cabin Fever.
"People see Jace and he looks the same as he did a few years ago, or at least they think so," she explained. "We who see him every day, see the toll this is taking. He used to be able to run, now a 30 foot walk is daunting. His eyes have sunken in to the point where his lashes are causing scars on the lenses of his eyes. It can be devastating to watch but he is always amazing."
Because of their difficulties, one of Valerie's passions is to get out the word on CS and the things those effected can do to provide a longer, easier life for their children.
Until recently, she didn't even know that Jace suffered from a different form of CS than many of the other kids they know who are fighting the mutation.
The Marietti family recently got back from the Share and Care Cockayne Syndrome Retreat and Medical Conference. The Carbon County family has attended the conference for several years.
At the retreat, a large group of families and professionals dedicated to helping Cockayne syndrome (Progeria) (CS) patients meet once a year at different place across the country. This year's event was held in Salt Lake as the Marietti's hosted.
The conference supports families and provides funding for research agendas dedicated to Cockayne syndrome and other DNA repair disorders.
"We hosted the annual 2014 conference and retreat for families to meet with medical professionals and other families who have children who have this rare condition," said Valerie. "We also bring medical researchers and professionals together to collaborate on research and meet children with CS to further their research studies."
To help offset the massive medical bills which have accompanied Jace's struggle, the Carbon community has come to Jace's aid just like many other local children stricken with difficult diseases.
"We live in such a great place," said Valerie. "Time and time again, they have helped Jace."
Those interested in following Jace's story or donating to his cause can find him on Facebook at Team Jace.
The site includes information about the "I partied with Deputy Jace," T-shirts and the history of his syndrome.