Vicki & Adriana, Ages 43 & 18
Living with Fabry Disease
Patient Advocacy ❯ Resources
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Batten Disease
For more information on Batten disease, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Batten disease:
- Batten Disease Support & Research Association
- Beyond Batten Foundation
- Taylor’s Tale
- The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease
- Mila’s Miracle Foundation, Inc.
- CLIMB (Children Living with Metabolic Diseases)
- National Association for Parents of Children with Visual Impairments (NAPVI)
- National Pediatric Neuroinflammation Organization, Inc
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
CDKL5 Deficiency Disorder (CDD)
For more information on CDD, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with CDD:
- International Foundation for CDKL5 Research
- CDKL5 International Database
- Loulou Foundation
- CDKL5 Canada
- CDKL5 Europe
- CDKL5 Italy
- CDKL5 Japan
- CDKL5 Netherlands
- CDKL5 UK
- Epilepsy Foundation
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Epidermolysis Bullosa
Important Information for Patients About SD-101 for Epidermolysis Bullosa
For more information on EB, please refer to the following resources.
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with EB:
- The Dystrophic Epidermolysis Bullosa Research Association of America (DebRA)
- DEBRA International
- The EB Research Partnership (EBRP)
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Fabry Disease
For information on Fabry disease, please refer to the following resources:
- FabryFacts.com: Disease Education and Resources (Sponsored by Amicus):
- Fabry Connect: Fabry Disease Resources for Patients and Families (Sponsored by Amicus):
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- National Institute of Neurological Disorders and Stroke, NIH
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Fabry disease:
- Fabry Support and Information Group (FSIG)
- Canadian Fabry Association
- National Fabry Disease Foundation (NFDF)
- UK Society for Mucopolysaccharide Diseases
- Fabry International Network (FIN) – including links to many individual country Fabry organizations
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Pompe Disease
For additional information on Pompe disease, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- National Institute of Neurological Disorders and Stroke, NIH
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Pompe disease:
- Association for Glycogen Storage Disease
- United Pompe Foundation
- Muscular Dystrophy Association
- International Pompe Association
- UK Association for Glycogen Storage Disease
- Australian Pompe Association
- Canadian Association of Pompe
- Acid Maltase Deficiency Association (AMDA)
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Rare Stories
Be inspired by people living with rare diseases across the globe.