Resources for Families

Prion diseases are a group of rare, progressive, neurodegenerative disorders that affect the brain. They are caused by abnormal proteins called prions, which are misshapen normal prion proteins that cause disease. Creutzfeldt-Jakob disease (CJD) is the most well-known prion disease, characterized by rapidly progressing dementia, muscle stiffness, and other neurological symptoms. Other prion-related conditions include variant CJD (vCJD), familial CJD, Gerstmann-Sträussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI).

• Sporadic: This is the most common form, accounting for most cases (>85%). The cause is unknown, and it occurs randomly without any apparent risk factors.

• Genetic: These forms of prion disease are caused by mutations in the PRNP gene, which is responsible for producing the prion protein. Inherited from parents, genetic forms can include genetic CJD, GSS, and FFI.

• Acquired: In rare cases, prion diseases can be acquired through exposure to infected tissues, contaminated surgical instruments, or contaminated food products, such as in the case of vCJD, which is due to eating meat contaminated with bovine spongiform encephalopathy (BSE).

Unfortunately, there is currently no cure for prion diseases. Treatment primarily focuses on managing symptoms and providing supportive care. Medications may be prescribed to alleviate pain, improve sleep quality, address behavioral changes, and manage emotional well-being. Palliative care and supportive services can help improve the quality of life for both the affected individual and their family.  There is hope for upcoming treatment trials.  Current treatment trials for prion disease can be found at this link.

Caring for a loved one with prion disease can be physically and emotionally challenging. It is important for caregivers to prioritize self-care, as taking care of themselves enables them to provide better care. Create a safe and comfortable environment at home by ensuring a clutter-free space, installing safety features, and adapting the living area to meet the individual's specific needs.

Maintaining open and effective communication with healthcare providers is essential. Prepare a list of questions and concerns before medical appointments, and don't hesitate to ask for clarification or additional information. Building a strong rapport with the healthcare team can help ensure the best possible care for your loved one.

Caring for someone with a progressive and challenging disease like prion disease can be emotionally draining. It's important for caregivers to seek emotional support for themselves. Consider joining caregiver support groups, such as the ones offered by the CJD Foundation (cjdfoundation.org), or seeking counseling services to express your feelings, share experiences, and learn coping strategies. Online communities and forums dedicated to prion diseases can also provide valuable support and a sense of community.

Social Security Disability Insurance (SSDI) provides financial assistance to individuals with disabilities, including prion diseases.

For more information, please visit these websites: www.ssa.gov/disability and www.ssa.gov/compassionateallowances.

• CJD Foundation: Offers educational information designed for lay people and caregivers about prion disease. They also support host groups.
• CJD International Support Alliance: A global collaboration sharing a commitment to patients, their families, and those at increased risk of developing prion disease with links to other countries' support groups. 
• Prion Alliance: Provides education for individuals and families affected by prion diseases. 
• Local Hospice and Palliative Care Services: These organizations offer specialized care, counseling, and support services for families dealing with end-of-life care. Contact your local hospice or palliative care provider for assistance.

Centers for Disease Control and Prevention (CDC): The nation's leading science-based, data-driven, service organization that protects the public's health. The CDC actively monitors and studies prion diseases through the NPDPSC to enhance understanding, detection, and proper public health response to this rare disease.

• Overview of CJD
• CDC's Diagnostic Criteria for Creutzfeldt Jakob Disease (CJD), 2018