(CNN) - Four months after his birth in Hamilton, Ontario, Devin Scullion was diagnosed with one of the rarest diseases known to humans.
He was born two months premature, and his mother, Jamie Madley, said she knew right away something was wrong.
"He was big for a preemie," Madley said. "His joints were tight, his movements were robotic, his skin was thin -- you could see his veins everywhere. I just didn't know what it was."
Devin's doctors were also baffled, she said, surmising he might have a dermatological problem or a lack of calcium.
But Devin had a genetic condition called Hutchinson-Gilford progeria syndrome, also known as progeria , which causes premature, accelerated aging. Children with the disease have a genetic mutation that causes them to produce the protein progerin, which blocks normal cell function.
Progeria affects approximately one in every 4 million to 8 million infants. There are only about 200 children living with the disease worldwide. There is only one other child in Canada with the disease, according to Madley.
As they age rapidly, these children suffer from a loss of body fat and hair and an inability to gain weight.
They are prone to developing osteoporosis, a disease where bones become weak and are more likely to break.
According to the National Osteoporosis Foundation , most girls develop about 90% of their bone mass by age 18 and boys by age 20.
Building strong bones during childhood helps prevent osteoporosis in adulthood. This is why children with progeria have such issues with bone density and rigidity.
Heart disease due to atherosclerosis, also known as hardening of the arteries, is a critical problem for children with progeria. These children can have heart attacks or strokes as early as age 5. Most die of heart disease by age 13.
However, encouraging results from the first clinical drug trial for children with progeria has researchers hopeful that the first treatment for the disease could be on the horizon.
When Devin was diagnosed, the cause of progeria was unknown and the prognosis was bleak.
"There wasn't much information. It was pretty much, 'There's nothing we can do for your son, take him home and enjoy him while he's there,'" Madley said.
"There was pretty much no hope. There really wasn't any kind of medication. I did what I could -- I put him on a diabetic diet, had him on vitamins."
Doctors told her the life span for a child with progeria was about 13 years, but Devin would likely live about 7 years.
That was 16 years ago. There have been ups and downs. When Devin was 6, he suffered two strokes just three weeks apart. He fought through paralysis and hip dysplasia, and had to learn how to walk again.
But much has happened in the past 16 years. In 2003, Dr. Francis Collins and his team of researchers at the National Human Genome Research Institute at the National Institutes of Health discovered the gene that causes this fatal disease.
Now, results from the first clinical drug trial are offering hope for researchers, children with progeria and their parents.
The drug, called Lonafarnib , was originally developed by Merck & Co. to treat numerous adult cancers and pediatric brain cancer. For the past 2½ years, 26 children with progeria from 16 countries took Lonafarnib orally twice a day. Devin Scullion is one of those children.
Researchers say every child in the study either gained weight or showed improvements in bone structure or arterial stiffness. Side effects from the drug were manageable: upset stomach, weight loss and diarrhea. No one dropped out of the study as a result.
The results , published Monday in the Proceedings of the National Academy of Sciences, are called exciting by researchers.
"It's huge," said Dr. Leslie Gordon, lead author of the study and medical director of the Progeria Research Foundation . "Progeria has always been a 100% fatal pediatric disease for which there was not treatment.
"Now, we not only have our first treatment, but we know for the first time that some aspects of the disease can be improved, and this inspires us to work harder and faster toward additional treatments for progeria that could hopefully work in conjunction with Lonafarnib to make a difference in the health of children with progeria."
Gordon is also a scientist on staff at Boston Children's Hospital where the trial was conducted. Her 15-year-old son, Sam Berns, has Progeria. Gordon said the results give her hope that a cure is possible.
"I think that we have just sort of just broken open the first of many possibilities here for the children," Gordon said. "It is possible that some systems affected in Progeria may be resistant to treatment. But if a cure means getting rid of progerin and really affecting the cardiovascular system in a big way so that these children live longer lives, then trials gives us a lot of hope. I think we can do this for the children and I think it's what the children deserve."
Dr. Mark Kieran, director of pediatric medical neuro-oncology at