‘That’s how I choose to remember her’: Fighting for Liviana

“The reality that Livi could have been screened for MLD is just one of those things that I think about all the time. It shouldn’t be like that for families in the future.”

Amy Price, a mother of eight, is a vocal advocate for expanding newborn screening for rare diseases. She knows firsthand how critical early diagnosis can be.

In 2010, Amy and her husband Brad’s then-two-year-old daughter, Liviana, was diagnosed with a rare, genetic disorder called metachromatic leukodystrophy (MLD) after she’d begun uncharacteristically falling down and losing her balance. Children born with MLD experience a progressive deterioration in their neurological and motor function. Two of Liviana’s other siblings, Giovanni and Cecilia, were also diagnosed with MLD.

There are currently no approved treatments for MLD, which occurs in one in every 100,000 live births. Treatment is limited to palliative care as the disease progresses.

Early diagnosis of MLD is crucial to improving treatment outcomes.1 By the time Liviana was diagnosed, her disease had progressed to the point that she was not eligible to enroll in a clinical trial of an investigational therapy. Following her diagnosis, Liviana’s body became increasingly rigid. Daily routines such as dressing became uncomfortable and caused her pain. She experienced respiratory issues and was eventually sustained by oxygen and a feeding tube.

As Amy describes her young daughter before experiencing the progression of MLD, “She was so bright, so witty. That’s how I choose to remember her.” Liviana passed away in September 2013 at five years old – the life expectancy for an estimated 50% of children with her form of the disease.2

Amy is now a passionate advocate for disease awareness around MLD, and more specifically, the critical importance of newborn screening. Whether she’s speaking on the topic at conferences and policy forums, or sharing her family’s experiences, Amy strives to be a resource for other parents and caregivers of children born with MLD.

“The reality that Livi could have been screened for MLD is just one of those things that I think about all the time,” she says. “It shouldn’t be like that for families in the future.”

This is representative of one family’s experience with MLD. Experiences may vary. All medical assessments and decisions should be made in consultation with a physician.

1. Ridsdale R et al. Mol Genet Metabol. 2017;120 (1-2);S118 abstr #286.
2. Mahmood et al. Metachromatic Leukodystrophy: A Case of Triplets with the Late Infantile Variant and a Systematic Review of the Literature. Journal of Child Neurology 2010.

Hear the story of another family affected by MLD.

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