"Parker was born November 9th, 2014,” said Mom Melissa Shoemaker.
He was a happy, healthy baby weighing 8 pounds, 14 ounces.
But soon everything changed.
"He could hold his head up for a little while, but he would get fatigued pretty easily,” Shoemaker said. “The crying, his difficulty feeding, he started to actually cry when we would feed him a bottle, he would just cry like he was in pain."
Shoemaker and her husband Larry were desperately struggling to find out what was wrong with their first child. When Parker was around four-months old, an emergency room physician said the infant might have cerebral palsy.
"After we left the doctor's office and I sat in the car and I just said I pray that he doesn't have cerebral palsy,” said Shoemaker. “But, now I wish he did."
That's because the infant actually had krabbe leukodystophy. It’s a rare, inherited, neurological disorder that the Shoemakers had never heard of.
"I said, have you ever had a diagnosis of this before, another patient, he said yes, and I said how long did they live, and he said two-years,” Shoemaker said. “And I can't explain to you how devastating it is to know that your child is going to die and there is nothing you can do about it."
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When Lily Smith was about five-months old, her parents Benjamin and Kathleen were blindsided by similar news.
"They told us to go home and take lots of pictures and start planning a funeral," said Benjamin Smith.
After getting the crushing diagnosis, the Smiths went on the internet and read everything they could.
There is no cure for krabbe, and like other children with the disease, it will eventually take Lily's life.
"About, I’d say, four or five hours into it I stumbled upon probably the most devastating part, Smith said. “That this is all preventable."
Nearly every infant across the country is tested within days of birth for certain hereditary problems. The newborn screening program is federally mandated, but it isn't the same in every state. Here in Maryland, blood samples are sent to a lab in the city and tested for more than 50 serious health problems. Which disorders make the list is controlled by a State Advisory Council.
Since 2011, the Smiths have been fighting to add the disease to the screening of newborns. New York State started testing for krabbe in 2006, and over the last ten years at least eight other states have added the disorder to the baby blood assessment.
"The newborn screening in Maryland has sentenced my daughter to die, because they refuse to add this disease to the newborn screening program like other states have," said Smith.
But according to some experts, it's a little more complicated. In 2009, a committee that advises the federal government looked at New York’s results with krabbe screening and did not recommend all states adopt it.
Testing for the complex disorder is designed to identify the gene associated with krabbe, however not all children who carry the gene develop the disease. Meaning there isn't always a clear diagnosis.
A stem cell transplant from cord blood is the only treatment for krabbe, and it can be expensive and risky. Yet advocates say if the transplant is done before symptoms start, it curbs the progression of the disorder. Lily was transplanted, and just celebrated her fifth birthday nearly two weeks ago.
"She's very affected by the disease,” smith said. “But the disease has pretty much stopped and her life expectancy has changed from less than two-years of age to about 15 to 20-years of age."
For Parker, krabbe quickly devastated his little body, it was too late for a transplant. He died at just ten-months old.
"I think the hardest part is knowing there is a test that costs $6 that could have saved my child's life,” Shoemaker said. “And even though a transplant isn't a cure, and it is a hard, hard, hard road, we still would have had the choice to save our child that we didn't get."
Both families hope their work will prevent others from having to walk in their shoes. And they have made progress getting laws on the books. The Maryland Newborn Screening Program now has its own fund, and starting this month, hospitals must educate parents about supplemental newborn testing they can buy.
The Maryland Advisory Council on Hereditary and Congenital Disorders is set to vote on adding krabbe leukodystrophy to the newborn screening panel. That will happen at the meeting on Oct. 20.
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