A-Z Support Directory

Welcome to RVA’s A-Z Support Directory. Below, you’ll find a list of rare diseases – wherever possible, we have listed the relevant support group(s) for each rare disease. Please note: RVA does not necessarily endorse or monitor each group’s operational governance. 

If you have searched our A-Z Support Directory and cannot find a support group, it may be that a group doesn’t currently exist to suits your needs.

Please note: this is not intended to be an exhaustive list of the 7,000+ rare diseases. If you run a support group and would like to have the rare disease(s) your group supports listed in the A-Z Support Directory, please contact RVA.

A

Aarskog Syndrome

Support Organisation(s): 

The Aarskog FoundationRVA PartnerAustralian Organisation


Achalasia

Support Organisation(s): 


Acrodysostosis

Support Organisation(s): 

Personal Story:Frankie’s Story


Acute Necrotizing Encephalopathy

Support Organisation(s): 


Addison’s Disease

Support Organisation(s): 

Personal Story:April’s Story


Aggressive Systemic Mastocytosis (ASM)

Support Organisation(s): 


Aicardi Syndrome

Support Organisation(s): 

Aicardi SyndromeRVA PartnerAustralian Organisation


Albinism

Support Organisation(s): 


Alopecia Areata

Support Organisation(s): 


Alpha Thalassaemia

Support Organisation(s): 


Alpha-1 Antitrypsin Deficiency (A1AD)

Support Organisation(s): 


Alpha-Mannosidosis

Support Organisation(s): 


Alport Syndrome

Support Organisation(s): 

Alports SyndromeRVA PartnerAustralian Organisation


Alström Syndrome

Support Organisation(s): 

Alstrom SyndromeRVA PartnerAustralian Organisation


Angelman Syndrome

Support Organisation(s): 


AnoRectal Malformation

Support Organisation(s): 

One in 5000 FoundationRVA PartnerAustralian Organisation


Apert Syndrome

Support Organisation(s): 

Apert SyndromeRVA PartnerAustralian Organisation


Arginase Deficiency (ARG)

Support Organisation(s): 


Argininosuccinic Acidemia (ASA)

Support Organisation(s): 


Aspartylglucosaminuria

Support Organisation(s): 


Ataxia-telangiectasia

Support Organisation(s): 


ATTR60Ala

Personal Story:Vince’s Story


B

Batten Disease

Support Organisation(s): 


Beta Thalassaemia

Support Organisation(s): 


Beta-Mannosidosis

Support Organisation(s): 


Bleeding Disorders

Support Organisation(s): 


Bone Marrow Failure

Support Organisation(s): 


Bone Marrow Mastocytosis

Support Organisation(s): 


Brain Cancer

Support Organisation(s): 


Brain Tumour

Support Organisation(s): 


Brown-Vialetto-Van Laere

Support Organisation(s): 


C

CADASIL Syndrome

Support Organisation(s): 


Calcium/calmodulin Dependent Serine Protein Kinase (CASK)

Personal Story:Angelina’s Story


Cardiomyopathy

Support Organisation(s): 


Cardiomyopathy

Support Organisation(s): 


Cerebellar Hypoplasia

Personal Story:Andrew’s Story


Cerebral Visual Impairment

Support Organisation(s): 

CVI Community AustraliaRVA PartnerAustralian Organisation


Charcot-Marie-Tooth Disease

Support Organisation(s): 


CHARGE Syndrome

Support Organisation(s): 


Charles Bonnet Syndrome

Support Organisation(s): 


Childhood Dementia

Support Organisation(s): 


Chromosome 15q Duplication Syndrome

Support Organisation(s): 

Dup15q AustraliaRVA PartnerAustralian Organisation


Chromosome 18 Abnormality

Support Organisation(s): 


Chromosome 5 Anomaly

Support Organisation(s): 


Chronic Fatigue Syndrome (CFS)

Support Organisation(s): 


Chronic Granulomatous Disorder

Support Organisation(s): 


Chronic Intestinal Pseudo-Obstruction (CIPO)

Support Organisation(s): 

Personal Story:Jodie’s Story


Circadian Rhythm Disorders

Support Organisation(s): 


Citrullinaemia

Support Organisation(s): 


Cockayne Syndrome (CS)

Support Organisation(s): 


Congenital Adrenal Hyperplasia

Support Organisation(s): 


Congenital Bowel Disorder

Support Organisation(s): 


Congenital Diaphragmatic Hernia

Support Organisation(s): 


Congenital Myasthenia (CM)

Support Organisation(s): 


Cornelia de Lange Syndrome

Support Organisation(s): 


Cortical Visual Impairment

Support Organisation(s): 

CVI Community AustraliaRVA PartnerAustralian Organisation


Cramp Fasciculation Syndrome

Support Organisation(s): 


Craniofacial Conditions

Support Organisation(s): 


Craniosynostosis

Support Organisation(s): 


Creutzfeldt-Jakob disease

Support Organisation(s): 


Cri du Chat Syndrome

Support Organisation(s): 


Crohn’s Disease

Support Organisation(s): 


Crusted Scabies

Support Organisation(s): 

One Disease At a TimeRVA PartnerAustralian Organisation


Cutaneous Mastocytoma

Support Organisation(s): 


Cutaneous Mastocytosis

Support Organisation(s): 


Cystathionine Beta-synthase Deficiency

Support Organisation(s): 

HCU Network AustraliaRVA PartnerAustralian Organisation


Cystic Fibrosis

Support Organisation(s): 


Cystic Fibrosis

Support Organisation(s): 


Cystinosis

Support Organisation(s): 


D

22q11.2 Deletion Syndrome

Support Organisation(s): 

VCFS 22q11 FoundationRVA PartnerAustralian Organisation


Dandy-Walker Syndrome

Support Organisation(s): 

Dandy-Walker SyndromeRVA PartnerAustralian Organisation


Dercurms

Support Organisation(s): 


Diffuse Cutaneous Mastocytosis (DCM)

Support Organisation(s): 


Disorder of the Corpus Callosum (DCC)

Support Organisation(s): 


Duchenne Muscular Dystrophy

Support Organisation(s): 

Save Our SonsRVA PartnerAustralian Organisation
Duchenne AustraliaRVA PartnerAustralian Organisation


Dwarfism

Support Organisation(s): 


Dyskeratosis Congenita Disorder

Support Organisation(s): 


E

Ectodermal Dysplasia

Support Organisation(s): 


Edwards Syndrome

Support Organisation(s): 


Ehlers-Danlos Syndrome

Support Organisation(s): 

Personal Story:Jessica’s Story


Eosinophilic Colitis

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Disorders

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Duodenitis

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Enteritis

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Gastritis

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Gastroenteritis

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Gastrointestinal Disorders

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Eosinophilic Oesophagitis (Eosinophilic Esophagitis)

Support Organisation(s): 

ausEE Inc.RVA PartnerAustralian Organisation


Epidermolysis Bullosa

Support Organisation(s): 

DEBRA AustraliaRVA PartnerAustralian Organisation

Personal Story:Lylah’s StoryDean’s Story


Epilepsy

Support Organisation(s): 

Epilepsy AustraliaRVA PartnerAustralian Organisation


Erdheim-Chester Disease

Support Organisation(s): 


Essential Thrombocythemia (ET)

Support Organisation(s): 

MPN Alliance AustraliaRVA PartnerAustralian Organisation


F

Fabry Disease

Support Organisation(s): 

Fabry AustraliaRVA PartnerAustralian Organisation


Familial Hypercholesterolaemia

Support Organisation(s): 


Fanconi Anaemia (Fanconi Anemia)

Support Organisation(s): 


Fatty Oxidation Disorders

Support Organisation(s): 


Fazio-Londe

Support Organisation(s): 


Fibrodysplasia Ossificans Progressiva (FOP)

Support Organisation(s): 

Personal Story:Brooke’s Story


Fibromuscular Dysplasia (FMD)

Personal Story:Kate’s Story


Four H Syndrome (4H Syndrome)

Support Organisation(s): 


FOXG1 Syndrome

Support Organisation(s): 


Fragile X Syndrome

Support Organisation(s): 


Friedreich Ataxia

Support Organisation(s): 


Fucosidosis

Support Organisation(s): 


G

Galactosaemia

Support Organisation(s): 


Galactosialidosis

Support Organisation(s): 


Gaucher Disease

Support Organisation(s): 


Generalized Arterial Calcification of Infancy

Support Organisation(s): 


Glutaric Acidaemia Type 1 (GA1)

Support Organisation(s): 


Guillain-Barre Syndrome

Personal Story:Tim’s Story


H

Haemochromatosis

Support Organisation(s): 


Haemoglobin E

Support Organisation(s): 


Haemophilia

Support Organisation(s): 


Head and Neck Cancer

Support Organisation(s): 


Hereditary Alpha Tryptasemia (HAT)

Support Organisation(s): 


Hereditary Angioedema

Support Organisation(s): 

HAE AustralasiaRVA PartnerAustralian Organisation


Hereditary Spastic Paraplegia (HSP)

Support Organisation(s): 


Hirschsprung’s Disease

Support Organisation(s): 


HLA-B27 gene

Personal Story:Adam’s Story


HNRNPH2 Mutations

Support Organisation(s): 


Homocystinuria (HCU)

Support Organisation(s): 


Huntington’s Disease

Support Organisation(s): 


Hydrocephalus

Support Organisation(s): 


Hypermobility Spectrum Disorders

Support Organisation(s): 


Hypophosphatemic Rickets

Support Organisation(s): 


I

Idiopathic Hypersomnia

Support Organisation(s): 


Idiopathic Intracranial Hypertension

Support Organisation(s): 


Idiopathic Pulmonary Hypertension

Personal Story:Grace’s Story


Idiopathic Thrombocytopenic Purpura

Support Organisation(s): 

Personal Story:Hudson’s Story


Immune Thrombocytopenia

Support Organisation(s): 


Imperforate Anus

Support Organisation(s): 

One in 5000 FoundationRVA PartnerAustralian Organisation
Bowel Group for Kids IncRVA PartnerAustralian Organisation

Personal Story:Tino’s Story


Inclusion Body Myositis

Support Organisation(s): 

Personal Story:Damian’s Story


Incontinence

Support Organisation(s): 


Indolent Systemic Mastocytosis (ISM)

Support Organisation(s): 


Inflammatory Bowel Disease

Support Organisation(s): 


Insomnia

Support Organisation(s): 


Intestinal Failure

Support Organisation(s): 


IQSEC2 Gene Mutation

Personal Story:Lloyd’s Story


Isaac’s Syndrome

Support Organisation(s): 


Isovaleric Aciduria (IVA)

Support Organisation(s): 


J

K

Kabuki Syndrome

Support Organisation(s): 


Kartagener Syndrome

Personal Story:William’s Story


KAT6A related disorders

Support Organisation(s): 

KAT6A related disordersRVA PartnerAustralian Organisation


Kennedys Disease

Support Organisation(s): 


Klippel-Feil Syndrome

Support Organisation(s): 


Krabbe Disease

Support Organisation(s): 


L

Lambert Eaton Myasthenic Syndrome (LEMS)

Support Organisation(s): 


Leukodystrophy

Support Organisation(s): 


Lipedema

Support Organisation(s): 


Lupus

Support Organisation(s): 


Lyme Disease

Support Organisation(s): 


M

3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)

Support Organisation(s): 


Maculopapular Cutaneous Mastocytosis(MPCM)

Support Organisation(s): 


Mal de Debarquement Syndrome

Support Organisation(s): 

Personal Story:Naomi’s Story


Maple Syrup Urine Disease (MSUD)

Support Organisation(s): 


Marfan Syndrome

Support Organisation(s): 


Marinesco-Sjogren Syndrome

Support Organisation(s): 


Maroteaux-Lamy Syndrome

Support Organisation(s): 


Mast Cell Activation Disorder

Support Organisation(s): 


Mast Cell Activation Syndrome (MCAS)

Support Organisation(s): 


Mast Cell Diseases

Support Organisation(s): 


Mast Cell Leukemia

Support Organisation(s): 


Mast Cell Sarcoma

Support Organisation(s): 


Mastocytosis

Support Organisation(s): 


Meniere’s Disease

Support Organisation(s): 


Mesothelioma

Support Organisation(s): 

MesotheliomaRVA PartnerAustralian Organisation
Mesothelioma.netRVA PartnerAustralian Organisation


Methylmalonic Aciduria (MMA)

Support Organisation(s): 


Microcephaly

Support Organisation(s): 

MicrocephalyRVA PartnerAustralian Organisation


Mitochondrial Disease

Support Organisation(s): 

Mito FoundationRVA PartnerAustralian Organisation


Moebius Syndrome

Support Organisation(s): 

Moebius SyndromeRVA PartnerAustralian Organisation


Morvan’s Syndrome

Support Organisation(s): 


Motor Neurone Disease

Support Organisation(s): 


Mowat Wilson Syndrome

Support Organisation(s): 

Mowat Wilson SyndromeRVA PartnerAustralian Organisation


Mucolipidosis II, II/III, III Alpha/Beta

Support Organisation(s): 


Mucolipidosis III Gamma

Support Organisation(s): 


Mucopolysaccharidoses

Support Organisation(s): 


Multiple Sclerosis

Support Organisation(s): 


Multiple System Atrophy

Support Organisation(s): 

Multiple System AtrophyRVA PartnerAustralian Organisation


Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis (MuSK)

Support Organisation(s): 


Muscular Dystrophy

Support Organisation(s): 


Myalgic Encephalomyelitis (ME)

Support Organisation(s): 


Myasthenia Gravis

Support Organisation(s): 


Myelofibrosis (MF)

Support Organisation(s): 

MPN Alliance AustraliaRVA PartnerAustralian Organisation


Myeloproliferative Neoplasm (MPN)

Support Organisation(s): 

MPN Alliance AustraliaRVA PartnerAustralian Organisation


Myositis

Support Organisation(s): 


N

Narcolepsy

Support Organisation(s): 

Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Narcolepsy AustraliaRVA PartnerAustralian Organisation


Narcolepsy with Cataplexy

Support Organisation(s): 

Narcolepsy AustraliaRVA PartnerAustralian Organisation


Neonatal Myasthenia

Support Organisation(s): 


Neuromyotonia

Support Organisation(s): 


Niemann-Pick Disease

Support Organisation(s): 


Norrie Disease

Support Organisation(s): 

Norrie DiseaseRVA PartnerAustralian Organisation


O

Ornithine Transcarbamylase Deficiency (OTC)

Support Organisation(s): 


Osteogenesis Imperfecta

Support Organisation(s): 

Osteogenisis ImperfectaRVA PartnerAustralian Organisation

Personal Story:Lily’s Story


P

Paroxysmal Nocturnal Haemoglobinuria

Support Organisation(s): 


Partial Chromosonal Deletion

Personal Story:Belinda’s Story


Pelizaeus-Merzbacher disease (PMD)

Support Organisation(s): 


Peripheral Nerve Hyperexcitability (PNH)

Support Organisation(s): 


Periventricular Nodular Heterotopia

Personal Story:Andrew’s Story


Perthes Disease

Support Organisation(s): 


Phelan-McDermid Syndrome

Support Organisation(s): 


Phenylketonuria (PKU)

Support Organisation(s): 


Pierre Robin Sequence

Support Organisation(s): 

Pierre Robin SyndromeRVA PartnerAustralian Organisation


Pitt-Hopkins Syndrome

Support Organisation(s): 


Pituitary Conditions

Support Organisation(s): 


Poland Syndrome

Support Organisation(s): 


Polycystic Kidney Disease (PKD)

Support Organisation(s): 


Polycythemia Vera (PV)

Support Organisation(s): 

MPN Alliance AustraliaRVA PartnerAustralian Organisation


Polymicrogyria

Personal Story:Andrew’s Story


Pompe Disease

Support Organisation(s): 


Porphyria

Support Organisation(s): 


Potocki-Shaffer Syndrome

Support Organisation(s): 


Prader-Willi Syndrome

Support Organisation(s): 


Primary Ciliary Dyskinesia

Support Organisation(s): 

Personal Story:William’s Story


Primary Immune Deficiencies

Support Organisation(s): 


Primary Sclerosing Cholangitis

Support Organisation(s): 


Progressive Familial Intrahepatic Cholestasis

Support Organisation(s): 


Propionic Acidaemia (PA)

Support Organisation(s): 


Pseudomyxoma Peritonei

Support Organisation(s): 

Pseudomyxoma SurvivorRVA PartnerAustralian Organisation


Pulmonary Hypertension

Support Organisation(s): 


Q

R

Rare Adipose Tissue Diseases

Support Organisation(s): 


Rare Chromosome Disorders

Support Organisation(s): 


Relapsing Polychondritis

Personal Story:Louise’s Story


Restless Legs Syndrome

Support Organisation(s): 


Rett Syndrome

Support Organisation(s): 


Riboflavin Transporter Deficiency

Support Organisation(s): 


S

Sandhoff Disease

Support Organisation(s): 

Rare Find FoundationRVA PartnerAustralian Organisation


Sanfilippo Syndrome

Support Organisation(s): 


Sarcoidosis

Support Organisation(s): 


Schindler Disease

Support Organisation(s): 


Schwannomatosis

Support Organisation(s): 


Scleroderma

Support Organisation(s): 

Scleroderma AustraliaRVA PartnerAustralian Organisation


SCN2A

Support Organisation(s): 

SCN2A AustraliaRVA PartnerAustralian Organisation

Personal Story:Lachy’s StoryEva’s StoryGabriela’s Story


Secondary Immune Deficiencies

Support Organisation(s): 


Seizure Disorders

Support Organisation(s): 

Epilepsy AustraliaRVA PartnerAustralian Organisation


Sialidosis (Mucolipidosis I)

Support Organisation(s): 


Sickle Cell Disease

Support Organisation(s): 

Personal Story:Peter’s Story


Silver Russell Syndrome

Support Organisation(s): 


Sleep Apnea

Support Organisation(s): 


Smoldering Systemic Mastocytosis (SSM)

Support Organisation(s): 


Sotos Syndrome

Support Organisation(s): 


Spinal Muscular Atrophy

Support Organisation(s): 


Sporadic Inclusion Body Myositis

Support Organisation(s): 

Personal Story:Tracy’s Story


Squamous Cell Carcinoma

Support Organisation(s): 


Stargardt’s Disease

Support Organisation(s): 

Stargardt’s AustraliaRVA PartnerAustralian Organisation


Still’s Disease

Personal Story:Tim’s Story


Superior Mesenteric Artery Syndrome (SMAS)

Support Organisation(s): 

Personal Story:Ebony’s Story


Systemic Autoimmune Illnesses

Support Organisation(s): 


Systemic Mastocytosis

Support Organisation(s): 


Systemic Mastocytosis with an Associated Hematologic Neoplasm

Support Organisation(s): 


T

Tarlov Cyst Disease

Support Organisation(s): 


Tay-Sachs Disease

Support Organisation(s): 

Rare Find FoundationRVA PartnerAustralian Organisation


Telomere Biology Disorders

Support Organisation(s): 


Tourette Syndrome

Support Organisation(s): 


Trichothiodystrophy (TTD)

Support Organisation(s): 


Trisomy 18

Support Organisation(s): 


Tryptase and Alpha Tryptasemia

Support Organisation(s): 


Tuberous Sclerosis Complex (TSC)

Support Organisation(s): 


Turner Syndrome

Support Organisation(s): 


Tyrosinaemia Type 1 & 2 (TYRO)

Support Organisation(s): 


U

Ulcerative Colitis

Support Organisation(s): 


Undiagnosed genetic conditions

Support Organisation(s): 


Urticaria Pigmentosa (UP)

Support Organisation(s): 


Usher Syndrome

Support Organisation(s): 

Usher Kids AustraliaRVA PartnerAustralian Organisation


V

Vanishing White Matter

Support Organisation(s): 


Vascular Abnormalities

Support Organisation(s): 

CMTC-OVMRVA PartnerAustralian Organisation


VGKC Associated Limbic Encephalitis

Support Organisation(s): 


Von Willebrand Disease

Support Organisation(s): 


W

Wiedemann-Steiner Syndrome

Support Organisation(s): 


Williams Syndrome

Support Organisation(s): 

Williams SyndromeRVA PartnerAustralian Organisation


X

X-linked Hypophosphatemia

Support Organisation(s): 

XLH AustraliaRVA PartnerAustralian Organisation

Personal Story:Naomi’s Story


XYY Syndrome

Support Organisation(s): 

XYY AustraliaRVA PartnerAustralian Organisation


Y

Z

Other Information & Support

Australian Pain Society Australian Organisation

Centre for Genetics Education Australian Organisation

Chronic Pain Association of Australia Australian Organisation

Deafblind Information Australia Australian Organisation

Deafness Foundation Australia Australian Organisation

Genetic Alliance Australia RVA PartnerAustralian Organisation

Muscoskeletal Australia Australian Organisation

Retina Australia Australian Organisation

Senses Australia Australian Organisation