Eliza Florian's son Joshua, her fourth child, was healthy and normal at birth. But by the time he was two, he had started showing symptoms that raised the family's concern.
Florian and her husband Lee, of Granby, took Joshua to several doctors and had an endocrinology appointment on the calendar when their son died in 2008.
"We didn't have a diagnosis even though we were trying to get help," Florian said. "He died 28 days before his endocrinology appointment."
What the Florians likely would have discovered at that appointment was that Joshua had a form of ALD, or Adrenoleukodystrophy. It's a neuro-degenerative disease that affects boys, and it's usually discovered between the ages of 4 and 6.
The disease means that a child can't metabolize certain fats, which start accumulating in the nervous tissue and cause neurological damage, Florian said. It can be treated with diet and medication if it's discovered at a very early stage.
"When they start showing signs, the treatment options aren't very effective," Florian said.
If Joshua's ALD had been discovered at birth, there would have been an "inexpensive, simple medication to treat it," Florian said. "An early diagnosis of ALD would have given us the knowledge we needed to get him treated and to have a chance to live a totally normal life."
A simple screening test for newborns that wasn't being used when Joshua was born is now available, and the Florians are part of a movement to get the state to require it at birth, along with the 40 other tests now administered to all newborns.
Florian's family and others affected by the disease have visited the state Capitol to lobby for Bill 465. Adam, Joshua's 9-year-old brother, wrote about his loss and Lee Florian read Adam's words before the committee. Emma, 15, and Ben, 13, spoke to senators privately and asked if they would support the bill, and Emma did a presentation for her science class at Granby Memorial High to help them understand ALD and the newborn screening bill.
The Senate's Public Health Committee unanimously approved the bill last week. Now the Florians' mission is to make sure the legislation gets approval in the Senate and the House.
"People have been really supportive of this bill," Eliza Florian said. "This is a medical issue and shouldn't be a political issue."
The Florians have started a Facebook page about the effort that details how people can help. People from across the country have contacted Eliza Florian to tell her they are working toward the same goal in other states.
"This test could have saved the life of our son and definitely will save the lives of future children," Florian said.
The cost savings is also potentially huge, Florian said, since the screening doesn't require taking any additional blood and the cost per year of caring for a child with ALD can run "into the millions."
Florian said the family didn't learn of Joshua's exact diagnosis until three years after his death, but now that they know, she and her husband feel compelled to save other parents from the same tragic outcome.
"We can't save our son and our grief can't be averted," Lee Florian said. "But when we have this before us, we have to try."