Family Advocates for Better Newborn Screening Measures After Son’s Krabbe Disease Diagnosis

In 2019, South Carolina Governor Henry McMaster signed Dylan’s Law into effect. This law was passed in the wake of Dylan Emery’s death. The young boy had Krabbe disease, a rare inherited disorder. Though there are limited treatments for Krabbe disease once symptoms appear, there are experimental and investigational treatments that may halt disease progression and extend the lives of those affected if administered early enough. 

The passage of Dylan’s Law meant that Pompe disease, Krabbe disease, and mucopolysaccharidosis type I (MPS I or Hurler Syndrome) would be added to the state’s newborn screening panel. Newborn screening panels are not standardized so different diseases may be included on a state-by-state basis. By 2021, two of those conditions were added to the screening panel in South Carolina—MPS I and Pompe disease. Unfortunately, this was not in time for Arthur Hutchinson.

The Hutchinson Family Speaks Out

WPDE reported that Allissa and Michael Hutchinson are on a mission to share their family’s story in hopes that it would prompt change. Their son Arthur’s condition was not caught at birth. He seemed to be developing normally until his parents noticed some concerning signs: regression, falling over, a sudden inability to walk or communicate like he could before. In April 2023, he was officially diagnosed with Krabbe disease: just a few weeks before it was finally added to the screening panel. 

Betrayed: that’s the word that Michael Hutchinson uses to describe his family’s situation. If the state had gotten the disease on the screening panel earlier, they may have been able to take measures to save their son’s life. Instead, the family is now stuck in a difficult situation and trying to figure out what to do next. They are currently waiting for Arthur to receive a hematopoietic stem cell transplant which could help him to live longer. 

By opening up about their experience, the Hutchinsons hope to encourage others to advocate for improved newborn screening. 

What is Krabbe Disease?

Also called globoid cell leukodystrophy, Krabbe disease is a rare inherited lipid storage disorder. It is caused by gene mutations that stop the body from producing enough galactocerebrosidase (GALC), an enzyme that breaks down lysosomes. These lysosomes then build up in the body, damaging and destroying myelin (the protective covering of nerve cells). Typically, the younger the age of onset, the more severe the disease is. In many cases, symptoms appear before six months old and the disease is fatal before age 2. Symptoms may include:

  • Failure to thrive
  • Feeding difficulties
  • Blindness
  • Difficulty swallowing
  • Frequent vomiting
  • Muscle spasms or rigidity
  • Decreased alertness
  • Extreme irritability and unexplained crying
  • Fever
  • Developmental delays and regression
  • Loss of head control 
  • Seizures

There is also a late-onset form that occurs in children ages 18 months or older. Most treatment options are palliative and supportive.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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