Where can I find information about diagnosis or management of juvenile Batten disease?
The average patient with a rare disease visits 8 physicians and receives 2 to 3 misdiagnoses before being correctly diagnosed. On average, this takes 7.6 years. In rare and currently incurable diseases such as CLN3 disease, the lack of a diagnosis or misdiagnoses increases family stress, is expensive, time-consuming, can result in mistreatment, and prevents access to effective family support services. If you or your doctor suspect your child has CLN3 or another of the 13 forms of Neuronal Ceroid Lipofuscinoses (Batten disease), the following institutions provide diagnostic testing, health management, and genetic counseling services for Batten.
- Batten Disease Support and Research Association Centers of Excellence
- Boston Lysosomal Storage Disease Program (BoLD) (Children’s Hospital of Boston)
- Children’s Hospital of Colorado Pediatric Neurology Program
- Children’s Hospital of Philadelphia Metabolic Disease Program
- Children’s Hospital of Wisconsin Lysosomal Storage Diseases (LSD) Program
- Children’s National Lysosomal Storage Disorders Program
- Cincinnati STAR Center for Lysosomal Diseases
- Duke Health Lysosomal Storage Disorders Treatment
- Emory’s Lysosomal and Peroxisomal Storage Disease Center
- Houston Lysosomal Storage Disease Center
- Lysosomal Storage Disorders Program at Massachusetts General Hospital
- Mount Sinai Medical Genetics and Genomics Lysosomal Storage Disease Program
- Penn Medicine Lysosomal Storage Disorders and Other Inborn Errors of Metabolism
- St. Joseph’s Neurogenetics and Lysosomal Storage Disease Center
- The Hospital for Sick Children Metabolic Genetics Clinic
- University of California – San Francisco (UCSF) Lysosomal Storage Disease Center
- University of Massachusetts Medical School’s Lysosomal Storage Disorder Treatment Center
- University of North Carolina at Chapel Hill, Pediatric Genetics & Metabolism
- University of Pittsburgh Center for Rare Disease Therapy
Patient Support – For patients and families
It is very important that patients and their families obtain accurate medical information, proper care, educational programming, and emotional and practical support.
The Department of Health and Human Services (HHS) is the “United States government’s principal agency for protecting the health of all Americans and providing essential human services, especially for those who are least able to help themselves.” HHS works closely with state and local governments to identify community needs and responses to those needs. The Administration of Community Living (formerly the Office on Disability) seeks to provide comprehensive information on programs and services for sick children, their families and other caregivers nationwide. Access these websites to reach state and local programs.
The Department of Education (ED) is the United States government’s principal agency “to promote student achievement and preparation fostering educational excellence and ensuring equal access.” The Office of Special Education and Rehabilitative Services (OSERS) of ED works closely with state and local governments to provide special education services for children with disabilities. Access these websites to reach state and local programs.
The Batten Disease Support and Research Association (BDSRA) is an international support and research organization for families of children and young adults with an inherited neurological degenerative disease known as Batten disease.
The Batten Disease Family Association (BDFA) of the UK is a national charity supporting families affected by all forms of Batten disease, raising awareness, and facilitating research. BDFA focuses on the immediate needs of families in the UK but is an active contributor to international research efforts with Beyond Batten Disease Foundation and others.
Children Living with Inherited Metabolic Diseases (CLIMB) is a national organization of the UK providing metabolic disease information to families, professionals and other interested groups.
Empowering families and communities to fight Batten disease
BBDF is dedicated to accelerating Batten disease research through the strategic placement of research funds. We are empowered with expertise from around the world in all research sectors driving us in promising directions with reason to be optimistic, hopeful, and energized.
Families, Family Foundations and other groups who would like to take advantage of BBDF’s State of the Art pursuit of promising scientific merit and translational review procedures are encouraged to contact BBDF president and CEO, Mary Beth Kiser to: 1) learn more about Batten disease research, 2) choose a project to invest in, or to 3) create a donor-advised fund within BBDF. BBDF will provide administrative and scientific leadership through the maze of research funding choices to bring you opportunities to choose from without the hassle of managing administrative tasks or the stress of vetting opportunities.
Please contact BBDF if:
- you would like help understanding the landscape and state of the science in Batten disease research
- you would like access to BBDF resources, Batten disease researchers, and emerging ideas
- you would like to consider establishing a donor-advised research fund
Portions of “Living with Batten” have been adapted and expanded from National Library of Medicine Genetics Home Reference guide on CLN3 disease to which BBDF was a major contributor.