Neurodegeneration with Brain Iron Accumulation (NBIA) refers to a group of rare, inherited neurological disorders characterized by abnormal iron accumulation in certain deep brain regions, such as the basal ganglia. These iron deposits lead to progressive movement problems, dystonia, rigidity, and sometimes cognitive decline.

On the other hand, “childhood dementia” is a broader term used to describe a set of conditions in which children gradually lose previously-acquired cognitive, motor or daily living skills. NBIA can be a form of childhood dementia when cognitive decline is present, but not all childhood dementia cases are NBIA.

Early signs vary depending on the specific subtype, but families often notice:

• A child who begins to stumble more, develop clumsiness or tremors.
• Swallowing or speech changes (slurred words or difficulty)
• Loss of previously-acquired skills (walking, talking, self-care)
• Behavioral changes, increased fatigue, or new seizures
• Vision problems (in some NBIA subtypes)

If you notice any unusual change in your child’s movement, cognition or behavior, it’s important to talk with your pediatrician or neurologist. Early evaluation helps in planning care.

Genetic testing is a key step because NBIA and many childhood dementia disorders are caused by gene variants. Knowing the exact genetic cause can:

• Confirm or refine the diagnosis
• Help predict likely progression and complications
• Enable other family members to be tested if needed
• Connect your family to research studies or trials specific to that gene

The testing process typically includes a referral to a genetics clinic, sample collection (blood, saliva or cheek swab), lab analysis, and a results discussion with a genetic counselor. Results may confirm a diagnosis, identify a variant of uncertain significance (VUS), or sometimes return negative (meaning no known pathogenic variant was found).

Yes. While there is currently no cure for NBIA or most childhood dementia disorders, there are many treatments and therapies that can help improve quality of life, manage symptoms, and support your child and family. These include:

• Movement-disorder medications (for dystonia, spasticity)
• Physical, occupational and speech therapies
• Feeding support and nutrition management
• Emotional/psychological support for siblings, parents and caregivers
• Participation in clinical trials or research (which may open access to novel treatments)

The good news is that research is active and growing, and organizations such as LPFCH emphasize that “innovative research… advances best possible care and cures for children” in their mission.

Finding research and clinical trials involves a few steps:

• Ask your neurologist, genetic counselor or disease‐specific organization for active studies related to NBIA or the identified gene variant.
• Use registries and databases such as ClinicalTrials.gov to search by condition or gene.
• Join patient registries offered by organizations (which may notify you of future trials).
• Stay connected with advocacy groups and community newsletters for announcements of new studies.

Participating helps advance science and may offer therapeutic access opportunities.

Families often experience complex emotions – uncertainty, grief, resilience – and siblings in particular may feel overlooked or confused. Support options include:

• Sibling support groups or peer-to-peer programs
• Counseling for siblings and caregivers
• Educational resources explaining the diagnosis in age-appropriate terms
• Community and online forums where families share experiences

Reminding siblings that their feelings are valid, providing them dedicated time and support, and including them in family conversations helps strengthen connection and reduce isolation.

Here are key considerations:

• Seek care at or in consultation with specialists experienced in rare neurodegenerative disorders.
• Ensure a multidisciplinary team (neurologist, geneticist, therapists, nutritionist, psychologist) coordinates care.
• Keep a detailed care “notebook” with symptoms, medications, therapies, and questions for the team.
• Advocate for your child in school, therapy and medical settings.
• Engage with condition-specific organizations to access resources and connect with other families.

According to the LPFCH site, part of ensuring top care involves “supporting world-class care” and “fueling innovative research” for children with special and complex health needs.
Packard Found

A patient registry is a carefully managed database where families and clinicians share standardized information about the diagnosis, medical history, therapies, outcomes and sometimes genetic data.
Reasons to participate:

• Helps researchers understand the natural history of rare conditions.
• May provide early access to emerging treatments and trials.
• Enables the advocacy groups to push for funding, treatment development and policy change.

Registration is voluntary, data is de-identified for privacy, and participation is a meaningful way to support progress for the entire community.

Caregiving in rare, progressive conditions is emotionally and physically demanding. Some tips:

• Accept that it’s okay to ask for help – from family, friends, respite services or professionals.
• Prioritize your own self-care: sleep, nutrition, regular check-ins with a counselor or support group.
• Connect with other parents who understand – you’re not alone.
• Celebrate small moments and milestones: they matter even if they seem small.
• Educate yourself about your child’s condition, so you feel empowered rather than helpless.

Organizations like LPFCH emphasize that driving health-care system change includes addressing the holistic needs of children and families.

Families and caregivers can be powerful advocates. Here’s how you can help:

• Share your child’s story (when you’re comfortable) with others – schools, communities, advocacy networks.
• Participate in awareness events, fund-raisers or campaigns.
• Stay informed about research and policy, and ask policymakers to support rare disease legislation and funding.
• ducate the broader community – friends, schools, therapy teams – about what NBIA or childhood dementia involves and why support matters.

Every voice matters and each action moves the field forward.

Both bpan disorder and Parkinson’s / Alzheimer’s disease are characterized by nearly identical clinical manifestations and pathological brain alterations.

• Thinning of the corpus callosum.
• Seizures.
• Movement disorders and muscle weakness.
• Loss of language and cognitive function, dementia.
• Brain iron accumulation (substantia nigra, Parkinson’s disease; numerous brain regions, Alzheimer’s disease).
• Neuronal oxidative damage leading to an accumulation of cellular debris such as damaged proteins and lipids in the brain.
• Neuronal cell death (substantia nigra, Parkinson’s disease; numerous brain regions, Alzheimer’s disease).
• Loss of neuronal myelin sheath in the brain.
• Difference: Temporal expression of brain disease.
  • BPAN disorder patients exhibit these pathological alterations early in life; first decade, but most likely by the 1st year. However, most BPAN patients are not diagnosed with this disorder until later in their adolescent or early adult life.
  • Parkinson’s / Alzheimer’s disease patients exhibit these adverse changes late in life, predominantly after the 6th decade.

1. Critical cellular events that are responsible for Parkinson’s / Alzheimer’s disease (targets for therapeutic intervention).
2. Critical cellular events that are responsible for BPAN disorder.

• Critical cellular events that are responsible for Parkinson’s / Alzheimer’s disease (targets for therapeutic intervention).
  • After many years of research, scientists continue to find it difficult to distinguish pathological cellular events in the brain that are due to normal aging from those responsible for chronic, slow progressing Parkinson’s / Alzheimer’s disease.
  • When critical pathological events are identified, treatment in early adult life should be successful in preventing these deadly diseases.
• Critical cellular events that are responsible for BPAN disorder.
  • Young BPAN patients, such as Isa Elaine, who have ongoing brain dysfunction, will be urgently studied over time to discover potential targets for therapeutic interventions.
  • Following Isa at such a young age permits the study of her disorder during its active phase, increasing our ability to identify critical events that are responsible for brain cell death.
  • Cells obtained from young patients (such as Isa) have a survival and functional advantage that permits more detailed studies for longer periods of time that are not possible in older adolescent patients. Therefore, it is urgent that we study cells obtained from tissue (cheek swabs) and blood from these young patients as soon as possible.
  • Cells derived from BPAN patients and from animals with the same single gene mutation as BPAN patients will be studied to learn the critical events that lead to neuronal cell death (targets for successful therapeutic interventions).
  • The critical pathological events identified in these studies will most likely also play an important role in causing Parkinson’s / Alzheimer’s disease.

Marc Fariss, PhD., Chief Scientific Advisor, Isa Elaine Foundation
Lenn Murrelle, MSPH, PhD., Scientific Advisor, Board of Directors, Isa Elaine Foundation

Both Drs. Fariss and Murrelle are experienced and accomplished biomedical scientists (see CVs) who have worked together collaboratively for over 20 years. They both have organized and participated in teams of expert scientists to solve challenging human health-related issues.

• Dr. Fariss’ research on Parkinson’s disease has been funded by NIH and private foundations. The resulting findings were published on successful protective strategies for preventing iron-induced brain cell oxidative damage and cell death.
• Dr. Murrelle has focused his research on understanding the causes, diagnosis, treatment, and prevention of numerous diseases. This research required Dr. Murrelle to build, lead, and contribute to scores of large, interdisciplinary teams of scientists and clinicians across the public, private, academic, and non-profit sectors.