Top resources for finding accurate medical information on Batten disease

Resources written for the general public

• Genetic and Rare Diseases Information Center: Neuronal ceroid lipofuscinosis
• Cleveland Clinic Diseases & Conditions: Batten Disease
• Medline Plus List of Genetic Conditions
• National Organization for Rare Disorders (NORD) Rare Disease Database

Science-heavy resources targeted at clinicians:

• National Library of Medicine GeneReviews: Neuronal Ceroid Lipofuscinoses Overview
• OMIM Online Catalog of Human Genes and Genetic Disorders

Should I get a second opinion for a Batten disease diagnosis?

Rare diseases require specialized expertise. Consider seeking a second opinion from a physician who focuses specifically on your child's condition. Experts in Batten disease specialize in Lysosomal Storage Diseases (LSDs), for which there are several Centers of Excellence centers across the nation. A fresh perspective can confirm the diagnosis, reveal additional treatment options, or simply provide reassurance about your care plan.

For many rare diseases, it can be challenging to find an accessible specialist with relevant experience. You can try asking providers you have seen, referring to community resources (see Section 5 below), or consulting a genetic counselor.

What does a genetic counselor do when my family has received a Batten disease diagnosis?

Certified Genetic Counselors have completed a program of study focused on understanding and providing information about genetic disorders. A genetic counselor can help you understand the genetic aspects of your child's diagnosis, what it means for your family, and whether testing is recommended for siblings or other relatives. 

Genetic counseling can take place in person or in a telemedicine visit. The National Society of Genetic Counselors offers a tool for finding a genetic counselor.

Should other family members undergo genetic testing for Batten disease?

Batten disease is usually inherited in a recessive pattern, which means that both parents carry one copy of a genetic change but don’t have symptoms themselves. If both parents pass their genetic change to their child, the child develops the condition. Carriers are healthy and are not at risk of developing the disease. 

However, one type of Batten disease (CLN4) follows a dominant pattern, which means that inheriting just one genetic change is enough to cause the disorder. In rare cases, the genetic change is not inherited but happens spontaneously as a new mutation in the person diagnosed.

Speaking with a genetic counselor about how your child's condition was inherited can help determine if testing is recommended for siblings, parents, or other family members. Testing parents can confirm if they are carriers of the genetic change and help assess the risk for future pregnancies or other relatives. Your genetic counselor can explain your family's specific situation, who should consider testing, and the best timing for those tests.

What symptoms should we monitor for Batten disease?

• Batten disease is a progressive condition that affects the brain, nervous system, and eyes. Most children develop typically at first, but symptoms usually begin in infancy or childhood with gradual loss of previously learned skills. Vision loss is often an early sign and can progress rapidly to blindness. Children commonly develop seizures, balance and coordination problems, behavioral or learning changes, and difficulties with speech, movement, and memory.

What treatments are available for Batten disease? 

• Medications are available to help manage various symptoms of Batten disease, such as anti-seizure medications or muscle relaxants.
• Targeted treatments are available for some types of Batten disease. One treatment called enzyme replacement therapy is available for children with CLN2 disease. This involves delivering medicine directly into the fluid around the brain and spinal cord to help slow the loss of mobility and other symptoms.
• There may also be clinical trials testing new or improved treatments for Batten disease (see Section 2). Clinical trials provide experimental treatments at no cost, though they have specific eligibility requirements. Your care team can help you understand whether your child qualifies for available treatments and assist with insurance approval. 

Consulting specialists in other fields about a Batten disease diagnosis

Batten disease affects multiple body systems. Your child may benefit from specialists beyond neurology—such as ophthalmology (focusing on the eyes), gastroenterology (the digestive system), cardiology (the heart), pulmonology (the lungs), or orthopedics (the musculoskeletal system). Ask your doctor which specialists should be part of your child's care. Geneticists, doctors who specialize in genetic disorders, are often very good at managing care for patients with complex rare diseases.

Finding clinical trial opportunities & supporting research into Batten disease

When you participate in research, you help your child and other families in the future. Medical research studies can be very different from each other. Some test new treatments, while others are "natural history studies" that just collect information about a disease’s impact over time. 

Clinical trials are research studies that help doctors find new treatments. Some trials test new medicines or therapies that aren't available yet. Even if you may choose not to participate, it can be good to know what options exist for your child's condition. Your child's doctor or disease organization can help you find trials that might be a good fit. The U.S. government also maintains a registry at clinicaltrials.gov

Natural history studies are designed to help researchers learn more about the condition. This information is important for creating future treatments. Traditional natural history studies can involve additional medical appointments over the course of several years.

Patient registries collect health information from people with specific diseases to help research move faster and connect families with clinical trials. Registries also show researchers and drug companies that families are engaged and want to help develop new treatments, which can bring more funding and research attention to a disease. Some diseases have more than one registry you can join. Patient Advocacy Groups typically establish and maintain patient registries for specific rare diseases. (See Section 5 below to learn more).

Organizing and maintaining your child’s medical records for Batten disease

Rare disease patients see many different doctors, often across different medical and technological systems that may not talk to each other. Unfortunately, that means the burden often falls on caregivers to track care holistically, identify “gaps,” and make sure nothing gets missed. Keeping your records as organized and centralized as you can from early on is likely to improve your ability to manage your child’s care down the road.

You can start by creating a one-page sheet with your child's diagnosis, current medications, allergies, and emergency contacts. Bring this sheet to every appointment. It can really help in emergencies or when you see a new doctor.

Many caregivers establish one (or several) records binder(s) in which they keep track of appointments, medication updates, symptoms, and other ongoing medically relevant information.

We also encourage caregivers to consider Citizen Health’s free tools for centralizing, managing, accessing, and extracting key information from health records. Our system will collect all your health records, across doctors and health systems, making them available on our secure online platform that can provide answers in real time based on questions you ask (like “What medications has my child been prescribed in the past year?” or “When did we last see an orthopedist?”) 

As a company built by rare disease caregivers, we aim to overcome the need for physical records binders. But ultimately the important question is what works for you and your family.

Every state has an early intervention program, and you can ask for an evaluation even if your child doesn't have a formal diagnosis yet. In some states, early intervention programs are called “birth to three”, “early steps”, or “first steps”. 

It’s never too early to search for early intervention services in your state. Learn more from ECTA, the Early Childhood Technical Assistance Center.

3 & up: School services for children with Batten disease

IEPs and 504 plans

When your child turns 3, they move from early intervention to school-based services. An Individualized Education Program (IEP) is a legal document that describes the special instruction, therapies, and support your child needs to learn at school. 

A 504 plan provides accommodations for students who don't need special instruction but need support because of a disability. Understanding your rights and these plans helps make sure your child gets the right services throughout their school years. 

Communicating with your school

Building a good relationship with your child's school team is important. You know your child better than anyone, and that knowledge is incredibly valuable. Come to meetings prepared with information about your child's needs, share your concerns and hopes openly, and never hesitate to ask questions if something isn't clear. 

You are an equal and essential member of this team. Other members of your rare disease community can also be valuable resources for navigating your child’s school experience. 

Assistive devices and equipment for Batten disease

As your child grows, various tools and equipment can support their comfort, communication, and independence. Many families find it helpful to introduce these supports gradually, based on their child's changing needs and preferences.

Early on, some children benefit from vision aids or mobility supports like walkers. Over time, your care team may suggest other options such as specialized wheelchairs, communication devices (including eye-gaze systems), or equipment to help with nutrition and breathing comfort. Some families also make home adjustments—like accessible bathing areas or adjustable beds—that can make daily routines easier for everyone.

Your medical team will work with you to identify what might be most helpful at each stage, and you'll never be navigating these decisions alone.

Respite care

Caring for a child with complex medical needs is hard work, and taking breaks is important for your health and your family's wellbeing. Respite care provides temporary relief, giving you time to rest, handle other responsibilities, or just recharge. Options range from a few hours with a trained caregiver to overnight or weekend programs. 

Respite isn't a luxury. It's a necessary part of taking care of your family long-term. The non-profit Access to Respite Care and Help (ARCH) provides guidance on how to find a respite care provider.

Building your support systems as a Batten disease caregiver

Being a caregiver to a child with a Batten disease is a heavy responsibility.  You can't do it alone, and you don’t have to. Building a network of support including family, friends, medical providers, therapists, other parents, and community resources, creates a safety net for hard days as well as people to celebrate victories with. 

When asking for help, it helps to be specific: people want to support you but often don't know how. Whether it's meals, watching your other children, or just someone to listen, letting others help is good for everyone.

Don’t forget about support for other family members! If your child has siblings check out the Sibling Support Project.

A program called Katie Beckett or TEFRA waivers allows children with disabilities to qualify for Medicaid based on their own income rather than family income. Additionally, children with significant functional limitations may qualify for Supplemental Security Income (SSI), which provides monthly payments and often automatically qualifies them for Medicaid. These programs can provide crucial coverage for therapies, equipment, and services private insurance won't cover. 

Learn more about Medicaid in your state through this interactive map from NORD.

Understanding your insurance coverage for Batten disease

What’s covered

• Your insurance policy determines what services, therapies, equipment, and medications are covered for your child. Start by reading your plan documents to understand your benefits, deductibles, co-pays, and out-of-pocket maximums. Call your insurance company's customer service or case management department as many insurers assign case managers to children with complex medical needs who can help you understand your coverage. 
• Don't assume something isn't covered until you've asked. Many families are surprised to learn what benefits are available when properly documented. 
• Keep notes of every call you make, including the date, time, person you spoke with, and what they said. This documentation can be very helpful later.
• Most children’s hospitals also have a financial counselor or patient navigator who may be able to help with insurance or financial coverage issues

Therapy & rehabilitation

• When considering insurance coverage for therapies and rehabilitation services, make sure to see if your plan has a cap for the number of therapy visits per year. Many children with complex needs will exceed that cap and appeals or additional insurance coverage plans may be needed. 

Medical equipment

• If your child needs durable medical equipment such as a wheelchair, walker, orthotics, or at home equipment, getting insurance coverage for that equipment will likely require prior authorization or a letter of medical necessity.

Targeted treatments

• Even once targeted treatments are FDA-approved, getting insurance coverage can be challenging because the treatment is expensive. Your medical team and the drug manufacturer often have support programs to help navigate insurance approvals and appeals. 

Denials & appeals

• Insurance companies often deny coverage for therapies, equipment, or medications at first but denials can often be overturned with the right documentation. If coverage is denied, you have the right to appeal, and many families win their appeals. 
• An effective appeal letter includes: your child's diagnosis and how it affects their daily life, specific medical reasons from doctors explaining why the service or item is necessary, references to your insurance policy language that supports coverage, research or medical guidelines supporting the treatment, and a clear request for reconsideration. Many patient organizations and hospital financial counselors can help you write strong appeals. You can even appeal multiple times, and many families win on their second or third attempt. You're advocating for your child, and persistence often pays off.

Non-discrimination protections for Batten disease

The Genetic Information Nondiscrimination Act (GINA) is a federal law that protects you from genetic discrimination in health insurance and employment. Health insurance companies cannot use genetic information to deny coverage, raise your premiums, or determine eligibility. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. Employers cannot use genetic information when making hiring, firing, or promotion decisions. Understanding these protections can give you confidence in pursuing genetic testing and sharing results with your child's healthcare providers without fear.

Learn more about these protections from the American Society of Human Genetics.

Finding and connecting with families who have walked in your rare disease shoes can be life-changing. Other parents navigating the same diagnosis can offer practical advice, emotional support and hope based on their shared experience. They can understand the daily challenges and the victories, big and small, in ways that others can’t. Disease-specific communities often become a lifeline and a source of hope that remind you that you are not alone. 

Local Batten disease support groups

Your genetic counselor or other healthcare provider may be able to connect you with local families in your area. It is totally appropriate to ask your providers if they know of any local families who might be willing to connect with you for a phone call or even a play date

Some rare diseases are so exceptionally rare that it might not be possible to connect locally with another person with the same rare disease. But collectively, rare diseases are not that rare! Connecting with broader rare disease groups is another great option. Many states and communities have organizations that support all rare diseases. 

Patient advocacy groups (PAGs) for Batten disease

Patient advocacy groups exist for many rare diseases and serve as a central hub for connections, reliable information, research updates and advocacy efforts. These organizations work to advance research, improve care standards, raise awareness, and support families. They often host conferences, maintain family directories or registries, fund research, provide educational resources, and fight for policies that benefit the community. 

Connecting with your disease's advocacy organization gives you access to experts, researchers, and a network of families while contributing to the larger mission of finding treatments and cures.

Several patient advocacy groups support families affected by Batten disease. Some focus on specific gene types (like CLN2), while others serve the entire Batten disease community.

Citizen Health partners with the Juju and Friends CLN2 Warrior Foundation, a patient advocacy organization dedicated to supporting individuals and families affected by CLN2 Batten disease through research funding, peer support, advocacy training, and policy reform. More information about this partnership can be found here. 

Patient advocacy groups for other types of Batten disease include:

• Batten Disease Support, Research, and Advocacy Foundation
• Beyond Batten Disease Foundation
• ForeBatten

Disease-specific conferences and events

Many patient advocacy groups will help spread awareness through conferences and events. These can include in person events or online events and are great opportunities to connect with others and to stay on the cutting edge of new research opportunities. 

​​Attending a conference focused on your child's condition can be transformative. These gatherings bring together families, researchers, doctors, and advocates in one place. You'll hear about the latest research, learn from medical experts, meet families at different stages of the journey, and let your child connect with others like them. 

Many families describe their first conference as the moment they felt less alone. While attending may require travel and expense, many organizations offer scholarships or financial assistance to help families participate. If you can go, it's often worth it.