Living With Batten Disease

Batten disease, also called neuronal ceroid lipofuscinosis (NCL), is a progressive and inherited disorder that causes seizures, loss of vision, and progressive motor and cognitive decline.

The treatments available are primarily palliative, meaning that they’re intended to improve patients’ quality of life and slow the worsening of symptoms.

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.

Vision problems

The time when vision loss occurs and how fast it develops can vary from one patient to another. For example, partial or complete loss of vision often develops in individuals who have childhood forms of the disease, while it is usually preserved in those with adult-onset Batten.

People living with Batten disease may visit the ophthalmologist to evaluate the degree of vision loss they are experiencing. A series of eye tests will be performed, such as an electroretinogram, a test that measures electrical signals generated by the retina, or an optical coherence tomography, which uses light microscopy to create images of the different layers of the eye.

There currently is no effective treatment to prevent vision loss in Batten patients. However, early diagnosis of vision impairment is important so that interventions can be put in place to allow children to achieve their full developmental potential.

Glasses or contact lenses may be useful to correct less severe vision impairment. Patients with total vision loss may need orientation and mobility training to learn using hearing, smell, and touch. Developing alternative ways of doing things that rely less on vision and more on hearing can help the child adjust to gradual loss of vision and can be of therapeutic value.

Occupational therapy can help patients doing daily living activities such as eating, bathing, toileting, and dressing independently.

Movement issues

Patients with Batten have a loss of gross motor skills — those that allow a child to crawl, walk, sit, and run. Due to a loss of balance and poor coordination, children with Batten may have changes in the way they walk or in their posture. Physiotherapists may help overcome these problems by giving patients exercises that help them strengthen their muscles and improve their balance.

The ability to perform fine motor skills, used in activities of daily living such as writing, dressing, bathing, and feeding, also may be affected. Occupational therapists may help patients improve these skills and maintain their abilities with the use of training exercises.

Behavioral problems

Mood changes such as anxiety and depression may occur and be increased as the patient becomes more worried and frustrated as the disease develops. There are different ways to deal with the anxiety and depression that may occur. Patients may benefit from a visit to a psychiatrist, who may recommend treatments as benzodiazepines and selective serotonin reuptake inhibitors, commonly used to treat depression. Psychotherapy sessions also may help patients cope with their problems.

Communication difficulties

People with Batten disease may experience a progressive deterioration in speech ability. To help patients keep communication skills for as long as possible, speech therapy may be considered. During sessions, the therapist will help patients develop the muscles of the face and tongue to support speech, language, and cognitive communication.

Training augmentative or alternative ways of communication, such as gestures and symbols, also may be useful for patients and their families. These strategies should be implemented as early as possible because it becomes more difficult to acquire these communication skills as cognitive function declines.


The age of onset of Batten disease mainly determines whether the child can continue to attend a mainstream school or has to switch to a special school.

Due to vision impairment, seizures, learning and communication problems, children with Batten disease usually require an individual education plan, commonly known as an IEP. With progressive visual impairment, children rely more and more on their sense of hearing, so teaching resources and methods should be adapted accordingly. The plan should be created with teachers and staff and should define learning goals. Such careful planning can significantly improve a child’s quality of life.

Nutrition and digestive issues

Since fine motor skills are affected, using cutlery with bigger handles makes eating easier for many people with Batten. With disease progression, swallowing difficulties occur and the risk of choking increases. Eventually, tube feeding may be required.

Fortified foods and supplements can help meet nutritional needs. Some studies have shown that children treated with diets low in vitamin A and supplemented with vitamins C and E had slower disease progression.

Treatments for Batten disease

To help slow disease progression, one possible option is enzyme replacement therapy (ERT). Just like it sounds, the patient’s missing or deficient enzyme is replaced with a fully functional one.

Brineura (cerliponase alfa) is an ERT designed to slow the loss of walking ability in children with a CLN2, or late-infantile Batten disease. It is the only treatment currently approved by the U.S. Food and Drug Administration (FDA) to treat Batten.

Immunosuppressants may be prescribed to slow neurodegeneration, or the loss of nerve cells. Many of these treatments are not recommended for use in children, particularly long term. Cellcept (mycophenolate mofetil) is an immunosuppressant that has been approved for use in children.

Among the anticonvulsants used to control seizures in Batten patients are fosphenytoin, diazepam, and levetiracetam. Fosphenytoin is an injectable medication used to help control generalized seizures and for preventing them during brain surgery, while diazepam is used in emergency situations to treat prolonged seizures. Levetiracetam, meanwhile, is an oral medicine that can help to prevent seizures.

For patients whose seizures cannot be fully controlled with anticonvulsants or anti-epileptic medications, a type of therapy called vagus nerve stimulation can be used.

Additionally, compounds found in the cannabis plant, called cannabinoids, were found to successfully treat seizures in a patient with Batten disease for whom conventional therapies alone failed.

Several experimental therapies are being studied, with some in early clinical trials. These include gene therapies, such as ABO-201, ABO-202, and AT-GTX-501. Another potential treatment option is stem cell transplants, which may be used to compensate or replace the nerve cells that are affected by the disease. Among other therapy candidates is PLX-200, an oral small molecule originally developed to lower cholesterol. Polaryx Therapeutics is repurposing PLX-200 to potentially treat juvenile Batten disease, also known as CLN3 disease, and late infantile Batten disease. The same company also is developing PLX-100, which is a combination of PLX-200 and retinoic acid.

Other investigational treatments are not yet in clinical trials although they are showing promising results. Among them are ribonucleic acid (RNA) modulators, a type of treatment aimed at overcoming the effects of errors in the DNA that cause the disease.

One combination treatment in development is BBDF-101, for juvenile Batten disease, which recently received a favorable opinion from the FDA.


Sleep problems frequently occur in people with Batten disease. In juvenile neuronal ceroid lipofuscinosis, the most common form of Batten, sleep disorders experienced by patients mainly include waking in the middle of the night and nightmares.

Practicing certain habits that help improve the quality of sleep is paramount in managing sleep problems. This is called sleep hygiene, and includes limiting daytime naps to 30 minutes, exercising, establishing a relaxing bedtime routine, and maintaining a comfortable sleep environment. It’s also important to avoid caffeine and nicotine, and to try to not eat heavy foods or spicy and fatty meals — all of which can trigger indigestion — right before sleep.

Sleeping in cots or having soft mattresses next to raised beds to cushion falls are important safety precautions, especially for patients who move around a lot during sleep. Many patients move often during sleep due to myoclonus, which is the brief, involuntary, irregular twitching of muscles.

Taking medications to control the other symptoms of Batten disease may help ease sleep problems. Although there are no sleep medications approved by the FDA for pediatric sleep disorders, some medications may be found to be beneficial in improving sleep, such as Catapres (clonidine) and Lyrica (pregabalin). Supplements of melatonin, a hormone naturally produced by the body, also can encourage sleep.

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.

The 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 the disorder.

In the U.K., the Batten Disease Family Association (BDFA) and CLIMB — Children Living with Inherited Metabolic Diseases — are national organizations providing disease information to families, professionals, and others.


Last updated: May 26, 2021


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.