PLATTSBURGH - When Samuel Bartlett was born, his parents were unaware of a condition lurking within him that would impede him from living the life of what most would consider a typical child.
His condition, known as 1p36 Deletion Syndrome, wasn't realized until more than five weeks after he was born to his parents, Shannon and Steve Bartlett. And, even then, the alphanumeric jumble left Samuel's parents with more questions than answers.
"When I got the diagnosis, the geneticist came in and told me what he had and handed me a piece of paper that she printed off the Internet," recalled Shannon. "It was the most negative piece of paper you could have been handed, with medical jargon I didn't even understand."
"It had a child who was probably one of the worst-case scenarios of 1p36 and just a few blurbs," said Steve.
The medical community didn't have much information about 1p36 when Samuel was born, and, more than three years later, the same is still true.
"There's not a lot of information, there are no books about it," said Steve. "There's such a lack of information and knowledge out there about what this condition is."
"It was such a big question mark, which was pretty scary," he added.
What is known about 1p36 is the condition occurs in one in every 5,000 to 10,000 births. That information, compiled by a nonprofit organization known as 1p36 Deletion Support and Awareness, shows 1p36 is "the most common chromosome deletion" that can be characterized by "moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features."
In Samuel's particular case, 1p36 has affected his motor skills, speech development and hearing. However, how he has been affected isn't uniform with how others with 1p36 are, said Shannon.
"People that have the syndrome, they do eventually walk independently and have some kind of communication whether it's sign language or verbal with an alternative communication device, but it seems to take longer," explained Shannon. "Not all kids who have 1p36 are the same, though. Some kids have seizures, some don't, some have eating problems and need a feeding tube, some don't."
"Sammie wears hearing aids, but in some kids, their hearing is completely fine," she continued. "Somewhere in his missing genetic information is obviously some part of his hearing."
Because so much is still unknown about 1p36, Shannon and Steve are behind efforts to fund research and provide educational materials for families with loved ones who have the condition. The two have gotten on board with a movement to get a $50,000 grant for 1p36 Deletion Support and Awareness through the Pepsi Refresh Project. The process involves members of the public voting on-line and through text messaging for their project. If the project is among the top 10 voted for at the end of the month, the project will be funded.
"The whole 1p36 community would just be ecstatic," Shannon said of the project being funded. "Being able to create something that could maybe give a family a little bit of hope at what could be possibly the worst time in their life I think would be fantastic."
The money, said Shannon, would be also be used to design and build informational exhibit for national conferences on 1p36, which are critical to keeping up-to-speed on research of the condition.
"I think it would just do a lot to ease the minds of a lot of people just to know what they're dealing with," Steve said of how the funding would be used.
If the project isn't funded, all hope is not lost, said Shannon.
"We'll just continue to do small fundraisers until we get there," said Shannon. "If we don't make it, at least we're raising awareness. We're getting the word out there."
(Editor's Note: To vote for the 1p36 Deletion Support and Awareness project on-line, visit www.refresheverything.com/1p36. More information about the condition can be found on-line at www.1p36dsa.org.)