Batten disease, also called neuronal ceroid lipofuscinosis (NCL), is a severe and heritable disease that causes seizures, loss of vision, and a continual diminishment of motor and cognitive abilities.
Living with Batten disease is challenging for both patients and their caregivers. Treatment, diet, and lifestyle changes, as well as support groups, can help in maintaining a higher quality of life.
Treatments for Batten disease
One of the most challenging symptoms of Batten disease is seizures. Many patients take anticonvulsants to reduce their number and severity.
Many children with Batten disease experience a loss of motor control in addition to seizures, and are more susceptible to injuries in falls. Physiotherapy and occupational therapy can help maintain a patient mobility and balance for as long as possible.
A research study recruiting participants in London is examining how Batten disease impacts the quality of life for patients, their families and caregivers as it progresses. Participants will take part in a focus group to explore their perceptions of life quality. This study is also intended to provide a foundation for healthcare professionals in guiding discussions of palliative care and helping with patient/family decisions.
Some studies have shown that children treated with diets low in vitamin A and supplemented with vitamins C and E had slower disease progression.
Support groups and Batten associations
It is very important that patients, their families and caregivers obtain accurate medical information, proper care, educational planning, and emotional and practical support. To these ends, support groups and disease associations can be of considerable assistance.
Beyond Batten Disease Foundation was established to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure.
The Batten Disease Support and Research Association (BDSRA) is an international support and research organization for families of children and young adults with Batten disease.
In the U.K., the Batten Disease Family Association (BDFA), a national charity, supports families affected by all forms of Batten disease. Its aim is to raise awareness and facilitate research. BDFA focuses on the immediate needs of families in the U.K., but is an active contributor to international research efforts.
Children Living with Inherited Metabolic Diseases (CLIMB) is a national organization in the U.K. providing metabolic disease information to families, professionals, and others.
Other groups supporting research and patients with Batten disease include:
- Charlotte & Gwenyth Gray Foundation to Cure Batten Disease
- Mila’s Miracle Foundation
- National Tay-Sachs and Allied Diseases Association
- National Association for Parents of Children with Visual Impairments (NAPVI)
In addition, many patients and their families have established blogs to raise awareness about Batten disease and to document their challenges and triumphs.
Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.