Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

Thursday, December 12, 2019

International Journal of Neonatal Screening, by Joanna Fanos et. al.

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Abstract: X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene,
resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated
adrenal insuciency and slowly progressive myelopathy to severe cerebral demyelination. Females
who are heterozygous for ALD typically develop milder symptoms by late adulthood. Treatment for
adrenal insuciency associated with ALD exists in the form of cortisol, and cerebral ALD may be
treated with stem cell transplantation. Currently, there is no treatment for myelopathy. Since 2013,
at least 14 states have added ALD to their newborn screening (NBS) panel, including California in
2016. We examined the impact of a positive NBS result for ALD on families in California. Qualitative
interviews were conducted with mothers of 10 children who were identified via NBS for ALD.
Interviews were transcribed verbatim and analyzed using thematic analysis by two coders. Mothers
felt strongly that ALD should be included on California’s NBS panel; however, many expressed
concerns over their experience. Themes included stress at initial phone call, diculty living with
uncertainty, concerns regarding mental health support, and desire for more information on disease
progression, treatments and clinical trials. Mothers exhibited diverse coping strategies, including
relying on faith, information seeking, and maintaining hope. Mothers’ recommendations for healthcare
providers included: educating providers making the initial phone call, providing patient-friendly
resources, oering information about ongoing research, and streamlining care coordination. Advice
for parents of children with ALD focused on staying hopeful and appreciating the time they have
with their children. As more states add ALD to their NBS panel, it is important to improve the current
model to promote family resiliency and autonomy.