List of Resources For Rare Disease Patients In Florida
Families in Florida facing a rare genetic disease diagnosis need clear, actionable guidance immediately. This comprehensive guide connects you to 15 critical resources across the state—from specialized genetics centers and financial assistance programs to experimental therapy evaluation platforms when traditional treatment options don't exist.
Key Takeaways
Comprehensive medical centers: Florida hosts specialized rare disease facilities including Orlando Health Arnold Palmer Hospital's Division of Genetics and the University of Florida Powell Center for Rare Disease Research
Free resource connections: NORD's State Resource Center provides Florida-specific referrals to financial assistance, medical equipment, and patient support programs at no cost
Multidisciplinary care teams: Geneticists, genetic counselors, nurses, and specialty physicians coordinate treatment for rare genetic conditions
Experimental therapy evaluation: When no approved treatments exist, Nome's patient platform provides AI-generated, expert-reviewed evaluations of experimental therapy options
Financial assistance programs: Coverage for prescriptions, housing, medical equipment, travel, and utilities through established state and national programs
1. Orlando Health Arnold Palmer Hospital Division of Genetics
Orlando Health's Division of Genetics serves as a comprehensive pediatric medical genetics center in Central Florida.
Multidisciplinary Care Team
The program brings together specialized expertise for rare genetic conditions:
Board-certified pediatric geneticists
Board-certified genetic counselors
Registered nurses
Registered dietitians
This team provides comprehensive evaluation and ongoing management for children with rare diseases.
Specialty Integration
The genetics division coordinates with multiple specialties including:
Cardiology for cardiac manifestations
Hematology for blood disorders
Neurology for neurological conditions
Other subspecialties as needed
Contact: (321) 841-6444
Location: Orlando Health Arnold Palmer Hospital for Children
After receiving genetic test results from Orlando Health or any genetics center, families can share that information through Nome's HIPAA-compliant platform for a free evaluation of experimental therapy options when no approved treatments exist.
2. University of Florida Powell Center for Rare Disease Research and Therapy
The Powell Center for Rare Disease Research at the University of Florida is a leading center for gene therapy research in Florida.
Powell Gene Therapy Center
The Powell Gene Therapy Center has contributed to developing novel approaches for therapeutic gene delivery, advancing treatment possibilities for genetic diseases previously considered untreatable.
Research Infrastructure
The center provides comprehensive rare disease research capabilities:
Gene therapy development and testing
Clinical trial coordination
Patient registry access
Therapeutic delivery mechanism innovation
Patient Organization Connections
The Powell Center maintains an extensive directory of patient organizations and foundations connecting families to condition-specific advocacy groups, research participation opportunities, and specialized support networks.
Location: University of Florida, Gainesville
Resources: Comprehensive helpful links directory for patients and families
3. UF Health Shands Children's Hospital Genetics Services
UF Health Shands Children's Hospital delivers multidisciplinary rare disease care through integrated specialty teams combining medical genetics specialists, cardiology, neurology, hematology, and additional subspecialties based on patient needs.
Contact: UF Health Shands Children's Hospital main line for genetics referrals
Location: Gainesville, Florida
4. NORD State Resource Center – Florida-Specific Support
The National Organization for Rare Disorders (NORD) State Resource Center provides Florida residents free information and referrals to critical support services.
Support Categories Available
NORD's State Resource Center coordinates access to:
Assistive and adaptive devices – Free or low-cost equipment for daily living
Financial assistance – Support for medical services, prescriptions, housing, and utilities
Caregiver support programs – Resources for family members and caregivers
Patient education – Disease-specific information and educational materials
Insurance navigation – Assistance understanding coverage and appeals
Mental health services – Counseling and psychological support
Recreational opportunities – Programs promoting quality of life
NORD also administers disease-specific patient assistance programs (which may include travel support) when funding is available; program eligibility and availability vary.
Contact: Visit NORD's State Resource Center or contact NORD
5. Florida Department of Health Rare Disease Programs
The Florida Department of Health coordinates programs for individuals with disabilities including rare genetic conditions, providing Bright Expectations programs for specific rare conditions, coordination with medical providers statewide, and connection to community services.
Contact: Florida Department of Health, 4052 Bald Cypress Way, Bin A13, Tallahassee, FL 32399-1721
6. Patient Advocacy Organizations and Foundations
Patient-founded advocacy organizations provide education, research funding, and family connections for specific rare diseases.
Smith-Magenis Syndrome Organizations
PRISMS and the Smith-Magenis Syndrome Research Foundation exemplify condition-specific foundations advancing scientific research while supporting affected families.
How Advocacy Groups Help
Patient advocacy organizations founded by families directly affected by rare diseases provide:
Connections to medical specialists with expertise in specific conditions
Research participation opportunities
Family networking with others facing the same diagnosis
Educational conferences and webinars
Fundraising for research advancement
Finding Your Condition-Specific Organization
The Powell Center's patient organizations directory and NORD's resources help Florida families identify advocacy groups for their specific rare disease.
These organizations understand both the medical complexities and emotional challenges families face—many were founded by parents who heard "there's nothing we can do" and refused to accept that answer. This is exactly why Nome was founded: to ensure every patient has a path to treatment, no matter how rare their disease.
7. NORD Financial Assistance Programs
NORD offers multiple financial assistance programs for rare disease patients requiring help with treatment costs, travel, and living expenses.
Types of Financial Support
Available assistance includes:
Medication assistance – Help affording life-saving treatments
Medical equipment – Free or subsidized assistive devices
Prescription copay assistance – Reducing out-of-pocket medication costs
Diagnostic testing support – Coverage for genetic testing and specialized diagnostics
How to Apply
Florida residents can access NORD financial assistance by visiting NORD's patient assistance programs page or contacting NORD to describe your specific rare disease and financial needs, then working with representatives to identify applicable programs and complete program-specific applications.
According to Nome's website, they provide a free initial evaluation to help families understand whether personalized therapies are scientifically feasible—potentially saving thousands in pursuit of non-viable options before pursuing expensive diagnostic testing or experimental treatments.
8. Clinical Trials and Research Participation
Clinical trials offer Florida rare disease patients access to experimental treatments and contribute to scientific advancement.
Finding Relevant Clinical Trials
ClinicalTrials.gov – The comprehensive database of federally and privately funded studies. Search by condition, location, and enrollment status.
Florida-based research institutions conducting rare disease trials include:
University of Florida Powell Center
Orlando Health research programs
Shands UF Health clinical research
Private research institutions across the state
Types of Studies Available
Treatment trials – Testing new therapies for safety and effectiveness
Observational studies – Tracking disease progression and outcomes
Natural history studies – Understanding how diseases progress without intervention
Registry participation – Contributing data to advance research
Expanded Access Programs
For patients who don't qualify for clinical trials but have no other treatment options, expanded access (compassionate use) programs may provide investigational therapies outside trial protocols.
Nome's platform synthesizes current trial and program information alongside experimental therapy options, mapping what's already available versus what could be specifically developed for your genetic mutation.
9. Rare Disease Day Events and Awareness Activities
Rare Disease Day occurs annually on the last day of February, bringing together the rare disease community for awareness and advocacy.
Participating in Florida Events
Florida communities participate through patient education events at medical centers, legislative advocacy at the Florida Capitol, fundraising walks and community gatherings, and social media awareness campaigns.
How to Get Involved
Contact your condition-specific patient advocacy organization
Reach out to NORD for Florida-specific Rare Disease Day activities
Connect with hospital genetics programs hosting events
Join social media campaigns using #RareDiseaseDay
Rare Disease Day provides an annual opportunity to raise awareness that rare diseases collectively affect millions—and that patients deserve treatment options.
10. Genetic Counseling Services in Florida
Board-certified genetic counselors help families understand genetic test results, inheritance patterns, and available options.
What Genetic Counselors Do
Genetic counselors provide:
Pre-test counseling – Explaining what genetic tests can and cannot reveal
Results interpretation – Translating complex genetic findings into understandable language
Family planning guidance – Discussing inheritance risks for future children
Coordination with specialists – Connecting families to appropriate medical care
Psychosocial support – Addressing emotional impacts of genetic diagnoses
Finding a Genetic Counselor in Florida
Genetic counseling services are available through:
Orlando Health Division of Genetics – Board-certified genetic counselors on staff
University of Florida health system
Private genetics practices statewide
Telehealth genetic counseling services
Professional Standards: Look for counselors certified by the American Board of Genetic Counseling (ABGC). You can find a certified genetic counselor through the National Society of Genetic Counselors directory.
After genetic counseling and testing, families can provide results through Nome's secure platform to receive an expert-reviewed evaluation mapping patient-specific experimental therapy options with mechanism-level rationale and peer-reviewed citations.
11. Nome Patient Journey Platform – When No Approved Treatments Exist
When genetic testing reveals a mutation with no FDA-approved treatment, Nome brings together proven science, AI, and world-class experts to evaluate whether experimental personalized therapy is scientifically possible.
Nome's 5-Step Process
Step 1: Share Your Diagnosis
Provide genetic test results through Nome's HIPAA-compliant platform. Nome takes protecting patient privacy seriously.
Step 2: AI-Generated, Expert-Reviewed Summary Report
Receive a free evaluation scoring whether personalized therapy is scientifically feasible for your specific mutation. According to Nome, its AI system analyzes scientific papers and databases on your genetic mutation in minutes instead of the months families typically spend doing this research alone.
Step 3: Live Follow-Up Support
Engage with Nome's team of specialists in AI, genetics, rare diseases, and drug development to dig deeper into what's possible for your unique condition.
Step 4: Execution-Ready Action Plan
Receive highly detailed next steps tailored to your situation, including:
Therapy mechanism and scientific rationale
Preclinical testing requirements
Regulatory pathway options
Manufacturing coordination
Timeline and cost estimates
Step 5: Ongoing Support
Nome coordinates geneticists, research labs, manufacturers, regulators, and healthcare providers—functioning like an operating system that automatically connects all the fragmented players in personalized medicine.
Evidence-Based Approach
Nome uses peer-reviewed studies, registries, case reports, mechanistic data, and current trial information synthesized for one patient. Every source is cited in-line with literature review and logic interrogation options built into the platform.
What Nome Doesn't Do
Nome presents options with evidence and feasibility—you and your physicians make all care decisions. Nome is not a treatment provider; it's an evaluation and coordination platform ensuring families aren't told "there's nothing we can do" when experimental options exist.
Contact: Visit nome.bio to start your journey
12. Educational Resources and Information Databases
Trusted databases provide reliable rare disease information helping families research their diagnoses.
National Databases
NORD (National Organization for Rare Disorders) – Comprehensive disease information and educational materials for thousands of rare conditions.
GARD (Genetic and Rare Diseases Information Center) – NIH-funded service providing answers about rare diseases in English and Spanish.
Orphanet – European database offering detailed information on rare diseases, clinical trials, registries, and expert centers worldwide.
GeneReviews – Expert-authored disease descriptions providing clinical information for genetic conditions.
PubMed – Access to peer-reviewed medical literature. Many articles offer free full-text access.
These databases empower families with knowledge—but when it's time to move from understanding to action, specialized platforms coordinate the complex process of pursuing experimental treatments.
13. Transportation and Lodging Assistance for Medical Appointments
Traveling to specialized rare disease centers creates financial hardship for many Florida families.
Travel Assistance Programs
Programs helping with transportation costs include:
NORD patient assistance – Visit NORD's programs page for details on available travel support when funding is available
Miracle Flights – Free air transportation for medical treatment
Hospital-specific programs – Many medical centers offer gas card programs and travel grants
Disease-specific foundations – Patient advocacy organizations often provide travel support
Lodging Resources
Ronald McDonald House – Provides free or low-cost housing near pediatric hospitals for families with children receiving medical care.
Hospital partnerships – Medical centers often partner with nearby hotels for discounted rates for patients and families.
14. Legal and Insurance Navigation Support
Appealing insurance denials and understanding legal rights presents major challenges for rare disease families.
Appealing Insurance Denials
When insurance denies coverage for rare disease treatments:
Request a written denial explanation with specific policy language cited
Obtain a medical necessity letter from your physician
Submit an internal appeal with supporting medical literature
If internal appeal fails, request external review
Contact your state insurance ombudsman if needed
Legal Aid Resources
Organizations providing legal assistance for rare disease patients include:
Pro bono legal services through state and local bar associations
Health law attorneys specializing in insurance appeals
Patient advocacy organizations with insurance navigation programs
NORD resources connecting to legal support
Understanding Your Rights
Federal and Florida laws protecting rare disease patients:
ERISA regulations – Governing employer-sponsored health plans
ADA protections – Disability rights and workplace accommodations
GINA – Genetic Information Nondiscrimination Act protecting against genetic discrimination
State insurance mandates – Florida-specific coverage requirements
Some advocacy services are free (such as nonprofit organizations like Patient Advocate Foundation), while others are fee-based. Verify terms before engaging.
15. Building Your Rare Disease Care Team
Coordinating care across multiple specialists requires intentional team-building.
Essential Team Members
A comprehensive rare disease care team includes:
Primary care physician – Coordinates overall health management
Medical geneticist – Provides specialized genetic disease expertise
Genetic counselor – Interprets test results and inheritance patterns
Disease-specific specialists – Cardiologists, neurologists, etc., as needed
Case manager/care coordinator – Organizes appointments and communications
Social worker – Connects to community resources and support services
Therapists – Physical, occupational, and speech therapy as needed
Coordination Strategies
Effective team coordination requires:
Centralized medical records – Maintain a complete binder with test results, specialist notes, and treatment plans
Team communication – Request specialists send consultation notes to all team members
Patient portal access – Use electronic health records to share information
Care plan documentation – Written plans ensure everyone follows the same approach
Orlando Health and similar multidisciplinary programs reduce coordination burden by bringing specialists together. For patients without access to integrated programs, Nome's platform functions like an operating system that automatically connects fragmented players in personalized medicine so families don't bear the coordination burden alone.
Take Action Now
Florida offers comprehensive rare disease resources from specialized medical genetics centers to financial assistance and experimental therapy evaluation.
Immediate Steps:
Contact medical genetics centers – Orlando Health at (321) 841-6444 or University of Florida Powell Center for genetic evaluation
Apply for financial assistance – Visit NORD's patient assistance programs for available support
Access free educational resources – Visit the NORD State Resource Center for Florida-specific support connections
Evaluate experimental therapy options – If no approved treatments exist, share your genetic test results with Nome for a free AI-generated, expert-reviewed feasibility evaluation
For families who've been told "there are no options," Nome transforms complex genetic information into clear, actionable roadmaps guiding you to potential treatments. Science exists. The infrastructure is building. Your path forward starts with these 15 essential Florida rare disease resources.
Frequently Asked Questions
What qualifies as a rare disease in the United States?
According to the FDA's Orphan Drug Act, a rare disease affects fewer than 200,000 people in the United States. However, with over 7,000 identified rare diseases, they collectively affect an estimated 3.5–5.9% of the global population (approximately 263–446 million people). About half of those affected are children, and more than 90% of rare diseases lack FDA-approved treatments.
How do I find a genetic counselor in Florida who specializes in rare diseases?
Orlando Health's Division of Genetics employs board-certified genetic counselors as part of their multidisciplinary team at (321) 841-6444. The University of Florida health system also provides genetic counseling services. You can find certified counselors through the National Society of Genetic Counselors directory. Look for counselors certified by the American Board of Genetic Counseling (ABGC).
What should I do if my child receives a rare disease diagnosis with no existing treatment?
First, connect with a medical geneticist through Orlando Health or the University of Florida Powell Center to confirm the diagnosis and understand the genetic basis. Then contact NORD for support resources and your condition-specific patient advocacy foundation for research information. Finally, if you have genetic test results, Nome can evaluate whether experimental personalized therapies are scientifically feasible for your child's specific mutation.
Are experimental personalized therapies covered by insurance in Florida?
Most experimental therapies are not covered by commercial insurance or government programs because they haven't received FDA approval. However, some clinical trials cover treatment costs. For highly individualized therapies, families typically need to fundraise or work with patient foundations. According to Nome's website, their free evaluation helps families understand scientific feasibility before investing time and resources in treatment development.
What is Rare Disease Day and how can I participate in Florida?
Rare Disease Day occurs annually on the last day of February to raise awareness for the rare disease community. Florida participation includes patient education events at medical centers, legislative advocacy, fundraising walks, and social media campaigns. Contact NORD for Florida-specific events, reach out to your condition-specific patient advocacy organization, or connect with hospital genetics programs hosting awareness activities. You can also join social media campaigns using #RareDiseaseDay.
