Our Services

Comprehensive Genetic Testing and Diagnostic Clarity for Rare and Complex Conditions

When Answers Matter

If you or your child has unexplained medical symptoms, developmental delay, muscle weakness, neuropsychiatric symptoms, behavioral concerns, developmental regression, metabolic disease, hypermobility, or a suspected genetic condition, a comprehensive genetic evaluation can provide clarity.

As a board-certified neurogeneticist, Dr. Jessica Duis specializes in identifying and managing rare neurogenetic disorders, inborn errors of metabolism, neuromuscular disease, neurodegeneration, connective tissue conditions, and complex multisystem illnesses that are often missed or misunderstood.

What Is a Genetic Evaluation?

A genetic evaluation is a detailed, structured medical assessment that may include:

• Extensive personal and family medical history

• Physical examination for syndromic features

• Review of prior lab work and imaging

• Assessment of connective tissue signs (such as hypermobility)

• Coordination of appropriate genetic testing

This process is particularly important for patients with:

• Neurogenetic conditions

• Developmental epileptic encephalopathies

• Suspected Ehlers-Danlos syndrome

• Undiagnosed multisystem symptoms

• Neurodevelopmental differences

• Inborn errors of metabolism

• Rare metabolic or chromosomal disorders

Long-Term Care for Complex and Multisystem Conditions

Lifelong Partnership in Rare Disease Care

Rare diseases are rarely simple — and rarely short-term.

Dr. Duis provides longitudinal management for individuals with:

• Angelman syndrome

• Prader-Willi syndrome

• Pitt-Hopkins syndrome

• Kabuki syndrome

• Undiagnosed genetic disorders

• Rare metabolic conditions

• Developmental epileptic encephalopathies

• Multisystem syndromes

• Connective tissue disorders

• Neuromuscular diseases

• Chromosomal disorders

• Rare and complex disease

Rare disease management includes both medical oversight and quality-of-life planning.

What Ongoing Rare Disease Care Includes

• Coordination with subspecialists

• Monitoring for associated complications

• Medication review and optimization

• Family counseling

• Transition planning into adulthood

• Preventive screening

• A physician who listens

• A physician who offer evidence-based medication trials and oversight tailored to an individual person

• A care partner that thinks of you as a person, leaves no stone unturned and is available when you need them most

The goal is stability, safety, and sustained health across the lifespan.

Integrated Medical and Developmental Support

Genetic Causes of Developmental Differences

Many neurodevelopmental conditions have underlying genetic components.

Dr. Duis provides evaluation and management for:

• Developmental delay

• Intellectual disability

• Autism spectrum conditions

• ADHD in medically complex patients

• Genetic syndromes associated with neurodevelopment

What This Care Includes

• Genetic testing when appropriate

• Behavioral and developmental assessment

• School advocacy and IEP support

• Coordination with therapy providers

• Long-term developmental planning

• Medication/therapeutic menagement

Medical and developmental needs are addressed together — not separately.

Supporting Patients Through Every Stage of Life

Coordinated Multidisciplinary Care

Patients with rare or complex conditions often see multiple specialists. Care coordination ensures that treatment plans are aligned and comprehensive.

Services include:

• Review of outside records

• Specialist collaboration

• Medication reconciliation

• Communication with primary care providers

Transition From Pediatric to Adult Care

For adolescents with lifelong conditions, transition planning is critical.

Transition services may include:

• Adult specialist referrals

• Self-management education

• Legal and guardianship considerations

• Long-term health planning

This process ensures continuity, safety, and empowerment.

Virtual Genetic and Rare Disease Consultations

For appropriate patients, telehealth consultations are available for:

• Genetic counseling follow-up

• Rare disease management

• Review of prior records

• Ongoing care coordination

Telemedicine expands access while maintaining thoughtful, personalized care.

Virtual Genetic and Rare Disease Consultations

For appropriate patients, telehealth consultations are available for:

• Genetic counseling follow-up

• Rare disease management

• Review of prior records

• Ongoing care coordination

Telemedicine expands access while maintaining thoughtful, personalized care.