15 Essential Resources for Rare Disease Patients in Pennsylvania
Navigating a rare disease diagnosis in Pennsylvania can feel overwhelming, but you're not alone. Approximately 1 in 10 Pennsylvania residents lives with a rare disease—representing about 1.3 million people statewide. After receiving a rare genetic disease diagnosis, families need actionable resources immediately. This guide provides 15 critical resources that Pennsylvania patients can access now, from specialized medical centers to state assistance programs and personalized treatment options that address your unique genetic condition when traditional approaches aren't available.
Key Takeaways
1 in 10 Pennsylvanians (about 1.3 million people) lives with a rare disease, yet 95% have no treatment options
Pennsylvania hosts world-class rare disease centers including CHOP, UPMC, and Penn Medicine's Orphan Disease Center
State-specific programs like PACE and PACENET provide prescription assistance for eligible seniors
When traditional resources fall short, personalized treatment pathways may offer new options
1. Understanding Rare Diseases: What Pennsylvania Patients Need to Know
A rare disease affects fewer than 200,000 people in the United States. Of the nearly 10,000 rare diseases identified, only a few hundred have established treatments.
Who Is Affected
Rare diseases impact Pennsylvanians across all ages and backgrounds:
About half of people living with a rare disease are children, making pediatric care coordination especially critical
Approximately 80% have a genetic component
The Diagnostic Journey
The path to diagnosis presents significant challenges. The average rare disease patient sees 7-8 physicians over 5-7 years before receiving an accurate diagnosis. This "diagnostic odyssey" creates emotional, financial, and medical burdens as families seek answers.
Common Challenges:
Multiple specialist consultations without clear answers
Repeated testing and procedures
Many patients report difficulty finding knowledgeable physicians
Financial strain from out-of-pocket medical expenses
Understanding these challenges helps families recognize they're not alone in their experience.
2. Pennsylvania Department of Health – State-Level Support
The Pennsylvania Department of Health provides foundational resources for rare disease patients through several specialized programs.
Newborn Screening Program
Pennsylvania's newborn screening program detects rare metabolic, endocrine, and genetic conditions at birth—enabling early intervention before irreversible damage occurs.
Key Features:
Screens for multiple rare genetic conditions
Early detection enables timely treatment and referrals; some children may qualify for Medical Assistance or other supports depending on medical and financial criteria
Contact Information
Pennsylvania Department of Health
Main line for rare disease inquiries and program information
Regional health offices provide local support
Genetic counseling service referrals
3. Children's Hospital of Philadelphia (CHOP) – Premier Pediatric Rare Disease Center
CHOP's rare disease programs serve children with complex genetic conditions through multidisciplinary care teams.
Division of Human Genetics
CHOP's Division of Human Genetics provides comprehensive diagnostic and treatment services:
Whole exome and whole genome sequencing
Clinical genetic testing for thousands of conditions
Genetic counseling for families
Metabolic disorder management
Mitochondrial disease programs
Specialized Rare Disease Clinics
CHOP operates disease-specific clinics staffed by experts:
Lysosomal storage disorders
Skeletal dysplasias
Neuromuscular disorders
Inborn errors of metabolism
Connective tissue disorders
Location: Multiple sites throughout Philadelphia and suburban Pennsylvania
Contact: 215-590-1000 for genetics appointments
4. UPMC Center for Rare Disease Therapy – Coordinated Care Excellence
The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh brings together international experts focused on treating children with rare diseases.
Services Offered
Directed by Jerry Vockley, MD, PhD, Chief of Medical Genetics, the center provides a comprehensive approach:
Leading standards of care protocols
Pioneering treatment protocols
Individualized services in a world-class environment
Coordinated specialty care that streamlines the diagnostic process
Multidisciplinary Team Approach
The center coordinates:
Medical geneticists
Metabolic specialists
Neurologists with rare disease expertise
Genetic counselors
Social workers and care coordinators
Nutrition specialists
Contact: UPMC Children's Hospital of Pittsburgh main line
Benefits: Single-site coordination eliminates the burden of managing multiple specialists across different locations.
5. University of Pennsylvania Orphan Disease Center – Research Powerhouse
The Penn Medicine Orphan Disease Center addresses the critical research funding gap for rare diseases.
Million Dollar Bike Ride Grants
The center has funded tens of millions of dollars in rare disease research through grant programs.
Program Features:
Supports therapeutic development and innovative research
Provides technological and educational resources
Identifies funding opportunities for patient organizations
Partners with families to advance treatment development
Contact: University of Pennsylvania Perelman School of Medicine
Website: orphandiseasecenter.med.upenn.edu
6. PACE and PACENET Programs – Pennsylvania Prescription Assistance
PACE (Pharmaceutical Assistance Contract for the Elderly) and PACENET provide prescription coverage specifically for Pennsylvania residents.
Eligibility Requirements
PACE:
Age 65 or older
Annual income up to $14,500 (single) or $17,700 (married)
Pennsylvania resident for 90+ days
PACENET:
Age 65 or older
Annual income $14,501-$33,500 (single) or $17,701-$41,500 (married)
Pennsylvania resident for 90+ days
Coverage Details
Both programs cover:
Prescription medications including specialized rare disease treatments
Generic and brand-name drugs
Biologics and specialty pharmaceuticals
Low copays ($6-$9 per prescription for PACE; $8-$15 for PACENET)
Application: 1-800-225-7223 or online at www.aging.pa.gov
Note: No asset limits—only income requirements apply.
7. National Organization for Rare Disorders (NORD) – Patient Assistance and Advocacy
NORD serves as the leading patient advocacy organization for the rare disease community.
NORD State Report: Pennsylvania
NORD's Pennsylvania-specific resources include:
State policy recommendations
Patient assistance program access
Educational resources for families
Connection to disease-specific organizations
Financial Assistance Programs
NORD provides:
Medication copay assistance
Diagnostic testing coverage
Travel assistance for clinical trials
Insurance premium support
Contact: 1-800-999-6673
Educational Resources
NORD's database offers:
Disease-specific information sheets
Treatment guidelines
Specialist directories
Research updates
8. Genetic Testing and Counseling Services Across Pennsylvania
Genetic testing provides the foundation for rare disease diagnosis and treatment planning.
Where to Access Testing in PA
Academic Medical Centers:
CHOP Division of Human Genetics
UPMC Medical Genetics
Penn Medicine Clinical Genetics
Geisinger Medical Center
Community Genetic Counselors:
Hospital-based genetic counseling services
Private practice genetic counselors
Telehealth genetic counseling options
Types of Testing Available
Whole genome sequencing
Whole exome sequencing
Single gene testing
Gene panels for specific conditions
Carrier screening
Prenatal and newborn testing
Insurance Coverage
Approximately 80% of rare diseases have a genetic component, making testing medically necessary in most cases. Most insurance plans cover genetic testing when ordered by a physician for diagnostic purposes.
Cost Considerations:
Out-of-pocket costs vary by test type
Financial assistance available through testing laboratories
Pennsylvania Medicaid covers medically necessary genetic testing
9. Clinical Trials and Experimental Treatment Access
ClinicalTrials.gov lists active trials, but many rare disease patients don't qualify for existing studies due to their specific mutation or disease progression stage.
Finding Pennsylvania-Based Trials
Search ClinicalTrials.gov using:
Your specific diagnosis
Geographic filter: Pennsylvania
Age and eligibility criteria
Major Pennsylvania Research Sites:
CHOP clinical trials office
UPMC research programs
Penn Medicine clinical trials
Geisinger research programs
When No Clinical Trials Exist
For patients whose specific genetic variant doesn't match available trials, personalized treatment approaches offer an alternative path. Nome's platform evaluates whether experimental therapies tailored to your exact mutation are scientifically feasible—providing a clear roadmap when traditional trials aren't an option.
Expanded Access Programs
Also called "compassionate use," expanded access allows patients to receive investigational therapies outside of clinical trials when:
No comparable alternative exists
Patient cannot participate in clinical trials
Potential benefit justifies potential risks
Process: Requires physician coordination with FDA and drug manufacturers.
10. Patient Assistance Programs – Medication Coverage
Many rare disease patients experience significant financial hardship due to medical costs not covered by insurance. Patient assistance programs bridge this gap.
Pharmaceutical Manufacturer Programs
Most rare disease medication manufacturers offer patient assistance:
Income-based free medication programs
Copay assistance cards
Bridge programs during insurance transitions
Travel assistance for infusion treatments
Independent Charitable Foundations
Patient Access Network (PAN) Foundation
HealthWell Foundation
Patient Advocate Foundation
Good Days (formerly Chronic Disease Fund)
Application Process
Required Documentation:
Prescription from treating physician
Proof of income (tax returns)
Insurance information
Medical necessity documentation
Timeline: Many programs provide same-day approval for urgent needs.
11. Pennsylvania Rare Disease Advisory Council (PARDAC) – Advocacy and Policy
PARDAC addresses systemic barriers faced by Pennsylvania rare disease patients through organized advocacy and policy recommendations.
Council Mission
PARDAC works to:
Improve access to specialized care
Support research initiatives
Develop state-level policy recommendations
Connect families with resources
Patient Advocacy Opportunities
Pennsylvania Rare Disease Day, organized by Life Sciences PA, empowers patients to share their stories and influence legislative change.
Resources Available:
RareUniversity educational programs
Legislative advocacy training
Patient story collection
Policy recommendations
Contact: Visit pardac.org for event information and advocacy resources.
12. Educational Support Services for Children – IEPs and 504 Plans
Children with rare diseases often require educational accommodations to manage their condition while attending school.
Individualized Education Program (IEP)
IEPs provide specialized instruction and services for students with disabilities that impact learning:
Special education services
Related services (physical therapy, occupational therapy, speech therapy)
Accommodations and modifications
Transition planning for post-graduation
504 Plans
Section 504 plans provide accommodations for students who don't require specialized instruction:
Medical accommodations (medication administration, rest periods)
Extended time for assignments and tests
Homebound instruction during medical absences
Assistive technology access
Pennsylvania-Specific Resources
Advocacy Organizations:
Parent Education and Advocacy Leadership (PEAL) Center
Education Law Center of Pennsylvania
Local school district special education offices
Legal Rights:
Individuals with Disabilities Education Act (IDEA)
Section 504 of the Rehabilitation Act
Americans with Disabilities Act (ADA)
Process: Request evaluation in writing to your school district. Schools must respond within specified timeframes under Pennsylvania law.
13. Financial Assistance and Emergency Grants for Pennsylvania Families
Beyond medication assistance, rare disease families often need help with treatment-related expenses.
Medical Expense Grants
Organizations providing grants for medical costs:
Disease-specific foundations
National Patient Travel Center (NPTC)
Corporate Angel Network (free air transportation)
Mercy Medical Angels (transportation assistance)
Pennsylvania State Programs
Low Income Home Energy Assistance Program (LIHEAP)
Temporary Assistance for Needy Families (TANF)
County assistance offices
Tax Deductions
Medical expenses exceeding 7.5% of adjusted gross income qualify for federal tax deductions. Keep detailed records of:
Travel to medical appointments
Lodging for treatment
Medical equipment and supplies
Insurance premiums
Out-of-pocket medication costs
Resource: Consult a tax professional familiar with medical expense deductions.
14. MedlinePlus and Trusted Medical Databases – Research Your Condition Safely
Credible health information helps families make informed decisions without falling prey to misinformation.
Government Resources
MedlinePlus Rare Diseases:
NIH-curated information on thousands of conditions
Plain-language explanations
Links to current research
Treatment overviews
Genetic and Rare Diseases Information Center (GARD):
Free information service
Specialist referral assistance
Research study information
From Information to Action
While online databases provide information, they don't synthesize it into actionable treatment pathways. Nome's AI-powered platform analyzes dozens of scientific papers and databases on your genetic mutation in minutes instead of months, translating research into clear next steps specific to your situation.
Evaluating Online Health Information
Red Flags:
Claims of miracle cures
Requests for payment for information
Lack of citations or sources
Testimonials without scientific evidence
Trustworthy Sources:
.gov websites (government)
.edu websites (academic institutions)
Peer-reviewed medical journals
Established patient advocacy organizations
15. Building Your Pennsylvania Care Team – Specialists and Coordinators
Rare disease management requires a coordinated team approach.
Essential Team Members
Medical Specialists:
Medical geneticist (diagnosis and genetic counseling)
Disease-specific specialists
Primary care physician (coordination)
Nursing care coordinators
Support Professionals:
Genetic counselors
Social workers
Patient advocates
Care managers
Care Coordination Services
Many healthcare providers report feeling unprepared to diagnose or manage rare diseases. Care coordinators bridge this gap by:
Scheduling multiple specialist appointments
Ensuring test results reach all providers
Managing prior authorizations
Coordinating treatment plans across specialties
When to Seek a Second Opinion
Consider additional expert input when:
Diagnosis remains unclear after extensive testing
Treatment plan differs significantly from published guidelines
Symptoms progress despite treatment
New research suggests alternative approaches
Nome's Care Coordination Platform
Managing complex genetic information and coordinating multiple experts can overwhelm families. Nome's platform coordinates geneticists, research labs, manufacturers, and providers to turn your genetic test results into a clear action plan that your Pennsylvania-based care team can implement.
Nome's Approach:
AI-generated evaluation, expert-reviewed by PhD specialists
Free initial assessment of personalized therapy options
Secure, privacy-focused data handling
Ongoing support throughout your treatment journey
Our team includes specialists in AI, genetics, rare diseases, and drug development who share one belief: no one should ever be told, "there's nothing we can do."
Take Your Next Step
Pennsylvania offers comprehensive rare disease resources, but knowing where to start makes all the difference. Patients who connect with rare disease support communities often report higher satisfaction with their care management.
Immediate Actions:
Get the diagnosis right: Contact CHOP, UPMC, or Penn Medicine genetics departments for comprehensive evaluation
Secure financial support: Apply for PACE/PACENET (if eligible) and pharmaceutical patient assistance programs
Connect with advocacy: Join PARDAC to access educational resources and connect with other Pennsylvania families
Explore personalized options: When traditional treatments don't exist for your specific mutation, get your free evaluation to see if experimental therapies are possible
Pennsylvania is home to major rare disease research institutions including Penn Medicine and CHOP. The expertise exists. The resources are available. Your path forward starts with these 15 essential Pennsylvania rare disease resources.
Frequently Asked Questions
What qualifies as a rare disease in Pennsylvania?
A rare disease affects fewer than 200,000 people in the United States, following the federal Orphan Drug Act definition. Pennsylvania recognizes this definition and provides specific resources through PARDAC and state health programs for residents living with these conditions.
How do I apply for PACE or PACENET prescription assistance in PA?
Call 1-800-225-7223 or visit www.aging.pa.gov to apply online. You'll need proof of age (65+), Pennsylvania residency for 90+ days, and income documentation (tax returns or Social Security statements). Applications are typically processed promptly, and coverage begins soon after approval.
Where can I find genetic testing services in Pennsylvania?
Major academic medical centers offer comprehensive genetic testing: CHOP (215-590-1000), UPMC Children's Hospital, Penn Medicine, and Geisinger. Community hospitals often have genetic counselors who can order testing and interpret results. Most insurance plans cover medically necessary genetic testing when ordered by a physician.
What financial help is available for families with rare disease patients in PA?
Pennsylvania families can access PACE/PACENET for prescriptions, pharmaceutical manufacturer patient assistance programs, NORD financial assistance, disease-specific foundation grants, and state programs like LIHEAP for utilities. Medical expenses exceeding 7.5% of income qualify for federal tax deductions.
How do I find clinical trials for rare diseases in Pennsylvania?
Search ClinicalTrials.gov using your diagnosis and "Pennsylvania" as location filters. Contact CHOP, UPMC, or Penn Medicine clinical trial offices directly. For conditions without active trials, platforms like Nome evaluate whether personalized experimental therapies are scientifically feasible for your specific genetic variant.
