Building a Bridge for Batten Disease

Authors

  • Melissa L. Feuerborn MD University of Kansas
  • Carla C. Keirns MD PhD MSc FACP University of Kansas Medical Center
  • Richard J. Barohn MD University of Missouri

DOI:

https://doi.org/10.17161/rrnmf.v2i4.15355

Keywords:

Batten, NCL, rare disease, advocacy, caregivers

Abstract

Background. Neuronal Ceroid Lipofuscinosis, or Batten disease, is a neurodegenerative disorder that results in seizures, vision loss, vegetative state, and premature death. This project aims to understand the value of disease organizations in the management of Batten disease progression.

Methods. Seven semi-structured interviews with caregivers of children with Batten disease were conducted at a national family conference. Also, five semi-structured telephone interviews with disease organizations were conducted, two of which were Batten disease specific.

Results. Most caregiver participants reported difficulties in getting a diagnosis. All participants reported significant benefit from involvement in the Batten Disease Support and Research Association (BDSRA) and associated family conference. Some of the most challenging aspects of care centered around a lack of in-home aid, medical equipment, and the education system. The disease advocacy organizations included Rare KC, the National Organization for Rare Disorders (NORD), Global Genes, Noah’s Hope, and Taylor’s Tale. Disease organizations encourage rare disease families to thrive by providing the bridge that connects patients, physicians, and researchers. A central organization implements an avenue for individuals to share information and meet people in the rare disease community.

Conclusions. The participants provided clear examples of the benefits families received from being involved in a rare disease organization.

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Author Biographies

Carla C. Keirns MD PhD MSc FACP, University of Kansas Medical Center

Assistant Professor, History and Philosophy of Medicine, Department of Internal Medicine, Division of Palliative Medicine 

University of Kansas Medical Center, Kansas City, Kansas

Richard J. Barohn MD, University of Missouri

Neuromuscular Medicine, Psychiatry & Neurology

University of Missouri, Columbia, Missouri

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Published

2021-09-17

How to Cite

Feuerborn, M., Keirns, C., & Barohn, R. (2021). Building a Bridge for Batten Disease. RRNMF Neuromuscular Journal, 2(4). https://doi.org/10.17161/rrnmf.v2i4.15355

Issue

Section

New Discoveries/New Stuff (Original Research)