Blue light helps Amish children

By Corin Kelly
Monday, 27 June, 2016


Outside, from far across the fields, a strange blue light beckons in the dark. Where horse-drawn buggies clatter along dusty country roads and many families shun electricity, blue light cuts harshly through the night.
Crigler-Najjar syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice (yellow discoloration of skin and eyes) and damage to the brain, muscles, and nerves.
Crigler-Najjar (type 1) is the form of the disease that starts early in life. Arias syndrome (type 2) starts later in life.
In Lancaster County, the first Amish arrived from Switzerland between 1737 and 1767. The insular communities presented biological risks that only worsened over time as the population expanded but its genetic profile didn't.
Currently, more than 50,000 Lancaster County Amish can trace their lineage to just 80 ancestors. This causes a 'founder effect' that exists at the unlikely intersection of random chance and deliberate community planning: The result of generations of intermarriage, genetic drift and the biological bottleneck those factors have spawned.
The scene is bathed in the glow of a single gas lamp. Upstairs, a baby sleeps in another kind of light, in a very different world.
High-intensity blue electric rays burn down upon his crib, creating an iridescent haze that envelops the room. The lights are suspended from a heavy stainless steel canopy just inches above the child.
The baby wears only a diaper and has no blankets, just starched white sheets. Mirrors are built into one side of the crib. Fans hum loudly to keep him cool.
With his chubby cheeks and bleached blonde hair, 15-month old Bryan Martin looks like an angel in his luminous cocoon.
But Bryan is a very sick child. The whites of his eyes are yellow and his skin is an unnatural gold.
The blue lights are saving his life.
Light treatment (phototherapy) is needed throughout a person's life. In infants, this is done using bilirubin lights (bili or 'blue' lights). Phototherapy does not work as well after age 4, because thickened skin blocks the light.
A liver transplant can be done in some people with type 1 disease.
Blood transfusions may help control the amount of bilirubin in blood. Calcium compounds are sometimes used to remove bilirubin in the gut. The drug phenobarbitol is sometimes used to treat Arias syndrome (type 2).
In the past children diagnosed with the disease would not survive. In the 1970's doctors realized that the wavelength and energy of blue light changes the nature of the bilirubin, allowing it to be excreted from the body.







To the families who travel from miles around, Morton's Clinic for Special Children is itself a miracle. The clinic, established by Dr. D. Holmes Morton, a Harvard Medical School graduate sits on what was once an Amish farmer's field, in a building erected in traditional barn-raising fashion by 70 local men.
Here, some of the world's rarest diseases are identified. Children who would never have survived in the past are treated with special formulas and dietary regimens tailored solely to their needs. And because the local community helps pay for the nonprofit clinic through annual auctions, costs are far less than at a regular doctor's office.
Today, the clinic, which is run by Morton's wife Caroline, treats about 600 Amish and Mennonite children. Morton's work is recognized around the world.
"These children living with the sword of Damocles," Morton says. "They need treatment, not just research."
Morton is speaking not just of Crigler-Najjar syndrome, but of the many other rare disorders seen in the clinic. Maple syrup urine disease. Glutari aciduria. Pigeon breast disease. Pretzel syndrome.
Many of the disorders can be fatal — or cruelly disfiguring — if undetected. Like Crigler's, many are so unusual they are simply not recognized by general pediatricians.
Doctor Kevin Strauss, the clinic's medical director who took over for Morton in 2009, said to date, hospitalizations from the metabolic disorders studied and treated at the clinic have fallen by 96 percent.
"What The Amish and Mennonite have allowed us to do is to glimpse into your future," Dr. Strauss told a Lancaster crowd in 2014.
"They have allowed us to glimpse the future of medical care and show us a way in which genomic knowledge will improve the well-being of people all over the world."






References
Crigler-Najjar Syndrome. Medline Plus.
Blue light aids sick Amish, Mennonite children. Fox News. 2007.
Crigler-Najjar Syndrome. NY times Health Guide. 2016.
Genetic disease is ravaging Lancaster County's Amish. PennState.
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