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 a support group is an Australian organisation and/or is an RVA Partner, this is highlighted in the directory. When engaging with an organisation, please consider the following:

  • Their registration status according to the Australian Charities and Not-for-profits Commission (ACNC), the national regulator of charities, or the equivalent regulator in the country where the charity is based.
  • If they are accepting donations, what information is publicly available regarding how funds are collected and dispersed.
  • If the organisation provides support services or advice, the skills and qualifications of personnel.
  • Privacy and confidentiality provisions. Please be aware that when sharing information online, the confidentiality of that information cannot be guaranteed. The eSafety Commissioner warns that sharing personal information about minors online may compromise their safety. Learn more.
  • Potential conflicts of interest (e.g. commercial interests) and what information is provided about how the organisation declares and manages these conflicts.
  • The organisation’s governance (e.g. is there a board or committee?).

The ACNC also has useful information for the public in relation to Australian charities.

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 suit 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.

Search by Disease Name:
Search by Disease Name:

A

Aarskog Syndrome
Support Organisation(s):
Achalasia
Acrodysostosis
Support Organisation(s):
Personal Story:
Acute Necrotizing Encephalopathy
Support Organisation(s):
Addison’s Disease
Support Organisation(s):
Personal Story:
Aggressive Systemic Mastocytosis (ASM)
Support Organisation(s):
Aicardi Syndrome
Support Organisation(s):
Albinism
Support Organisation(s):
Allgrove Disease
Support Organisation(s):
Alopecia Areata
Support Organisation(s):
Alpha Thalassaemia
Support Organisation(s):
Personal Story:
Alpha-1 Antitrypsin Deficiency (A1AD)
Support Organisation(s):
Alport Syndrome
Support Organisation(s):
Alström Syndrome
Support Organisation(s):
Amyloidosis
Support Organisation(s):
Angelman Syndrome
Support Organisation(s):
AnoRectal Malformation
Support Organisation(s):
Anti-neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis
Personal Story:
Apert Syndrome
Support Organisation(s):
Arachnoid Cysts
Support Organisation(s):
Arginase Deficiency (ARG)
Support Organisation(s):
Argininosuccinic Acidemia (ASA)
Support Organisation(s):
Asbestos Related Disease
Support Organisation(s):
Aspartylglucosaminuria
Ataxia-telangiectasia
Support Organisation(s):
ATTR60Ala
Personal Story:

B

Batten Disease
Support Organisation(s):
Beck-Fahrner Syndrome
Support Organisation(s):
Beta Thalassaemia
Support Organisation(s):
Personal Story:
Bleeding Disorders
Support Organisation(s):
Bone Marrow Failure
Support Organisation(s):
Bone Marrow Failure Syndromes
Support Organisation(s):
Bone Marrow Mastocytosis
Support Organisation(s):
Brain Cancer
Support Organisation(s):
Brain Tumour
Support Organisation(s):
Brown-Vialetto-Van Laere

C

CACNA1A
Support Organisation(s):
CADASIL Syndrome
Support Organisation(s):
Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)
Support Organisation(s):
Personal Story:
Cardiomyopathy
Cerebellar Hypoplasia
Personal Story:
Cerebral Visual Impairment
Support Organisation(s):
Charcot-Marie-Tooth Disease
Support Organisation(s):
CHARGE Syndrome
Support Organisation(s):
Charles Bonnet Syndrome
Support Organisation(s):
Chiari Malformation
Support Organisation(s):
Childhood Dementia
Support Organisation(s):
Chromosome 15q Duplication Syndrome
Support Organisation(s):
Chromosome 18 Abnormality
Chromosome 5 Anomaly
Support Organisation(s):
Chronic Fatigue Syndrome (CFS)
Support Organisation(s):
Chronic Granulomatous Disorder
Chronic Idiopathic Neutropenia
Personal Story:
Chronic Intestinal Pseudo-Obstruction (CIPO)
Support Organisation(s):
Personal Story:
Chronic Recurrent Multifocal Osteomyelitis (CRMO)
Circadian Rhythm Disorders
Support Organisation(s):
Citrullinaemia
Support Organisation(s):
Cogan’s Syndrome
Cold Agglutinin Disease
Support Organisation(s):
Cone-Rod Dystrophy
Personal Story:
Congenital Adrenal Hyperplasia
Support Organisation(s):
Congenital Anomalies
Support Organisation(s):
Congenital Bowel Disorder
Support Organisation(s):
Congenital Diaphragmatic Hernia
Support Organisation(s):
Congenital Myasthenia (CM)
Support Organisation(s):
Congenital Panhypopituitarism
Personal Story:
Cornelia de Lange Syndrome
Cortical Visual Impairment
Support Organisation(s):
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):
Cryopyrin-associated Periodic Syndromes (CAPS)
Cushing’s Syndrome
Support Organisation(s):
Cutaneous Mastocytoma
Support Organisation(s):
Cutaneous Mastocytosis
Support Organisation(s):
Cystathionine Beta-synthase Deficiency
Support Organisation(s):
Cystic Fibrosis
Support Organisation(s):
Cystinosis
Support Organisation(s):

D

22q11.2 Deletion Syndrome
Support Organisation(s):
Dandy-Walker Syndrome
Support Organisation(s):
Dercum’s Disease
Support Organisation(s):
DeSanto-Shinawi Syndrome
Diffuse Cutaneous Mastocytosis (DCM)
Support Organisation(s):
Disorder of the Corpus Callosum (DCC)
Personal Story:
Dopamine Transporter Deficiency Syndrome (DTDS)
Support Organisation(s):
Duchenne Muscular Dystrophy
Support Organisation(s):
Dwarfism
Support Organisation(s):
Dyskeratosis Congenita Disorder
Dysphonia
Support Organisation(s):
Dystonia
Support Organisation(s):

E

Ectodermal Dysplasia
Support Organisation(s):
Ectodermal Dysplasia
Edwards Syndrome
Support Organisation(s):
Ehlers-Danlos Syndrome
Eosinophilic Colitis
Support Organisation(s):
Eosinophilic Disorders
Support Organisation(s):
Eosinophilic Duodenitis
Support Organisation(s):
Eosinophilic Enteritis
Support Organisation(s):
Eosinophilic Gastritis
Support Organisation(s):
Eosinophilic Gastroenteritis
Support Organisation(s):
Eosinophilic Gastrointestinal Disorders
Support Organisation(s):
Eosinophilic Oesophagitis (Eosinophilic Esophagitis)
Support Organisation(s):
Epidermolysis Bullosa
Support Organisation(s):
Personal Story:
Epilepsy
Support Organisation(s):
Erdheim-Chester Disease
Erythromelalgia
Support Organisation(s):
Essential Thrombocythemia (ET)
Support Organisation(s):

F

Fabry Disease
Support Organisation(s):
Facioscapulohumeral Dystrophy (FSHD)
Facioscapulohumeral Muscular Dystrophy
Familial Hypercholesterolaemia
Support Organisation(s):
Familial Mediterranean Fever & Autoinflammatory Diseases Australia
Fanconi Anaemia (Fanconi Anemia)
Support Organisation(s):
Fatty Oxidation Disorders
Fibrodysplasia Ossificans Progressiva (FOP)
Support Organisation(s):
Personal Story:
Fibromuscular Dysplasia (FMD)
Personal Story:
Fibrous Dysplasia
Support Organisation(s):
Four H Syndrome (4H Syndrome)
Support Organisation(s):
Fowler’s Syndrome
Support Organisation(s):
FOXG1 Syndrome
Support Organisation(s):
Fragile X Syndrome
Support Organisation(s):
Friedreich Ataxia
Support Organisation(s):

G

Galactosaemia
Support Organisation(s):
Gaucher Disease
Support Organisation(s):
Generalized Arterial Calcification of Infancy
Giant Cell Tumour
Support Organisation(s):
Glutaric Acidaemia Type 1 (GA1)
Support Organisation(s):
Guillain-Barre Syndrome
Support Organisation(s):
Personal Story:

H

Haemochromatosis
Support Organisation(s):
Haemoglobin E
Support Organisation(s):
Personal Story:
Haemophilia
Support Organisation(s):
Head and Neck Cancer
Support Organisation(s):
Hennekam Syndrome
Personal Story:
Hereditary Alpha Tryptasemia (HAT)
Support Organisation(s):
Hereditary Angioedema
Support Organisation(s):
Hereditary Spastic Paraplegia
Support Organisation(s):
Hereditary Spastic Paraplegia (HSP)Type 56 (SPG56)
Support Organisation(s):
Heritable Disorders of Connective Tissue
Support Organisation(s):
Hirschsprung’s Disease
Support Organisation(s):
HLA-B27 gene
Personal Story:
HNRNPH2 Mutations
Support Organisation(s):
Homer Gene Variants
Support Organisation(s):
Homocystinuria (HCU)
Support Organisation(s):
Huntington’s Disease
Support Organisation(s):
Hydrocephalus
Support Organisation(s):
Hyper-Igd Syndrome
Hypermobility Spectrum Disorders
Hypophosphatemic Rickets

I

Idiopathic Hypersomnia
Support Organisation(s):
Idiopathic Intracranial Hypertension
Support Organisation(s):
Idiopathic Pulmonary Hypertension
Personal Story:
Idiopathic Thrombocytopenic Purpura
Support Organisation(s):
Immune Thrombocytopenia
Support Organisation(s):
Imperforate Anus
Support Organisation(s):
Personal Story:
Inclusion Body Myositis
Support Organisation(s):
Personal Story:
Incontinence
Support Organisation(s):
Indolent Systemic Mastocytosis (ISM)
Support Organisation(s):
Infantile Spasms
Support Organisation(s):
Inflammatory Bowel Disease
Support Organisation(s):
Insomnia
Support Organisation(s):
Interstitial Lung Diseases (ILD)
Support Organisation(s):
Intestinal Failure
Support Organisation(s):
Personal Story:
IQSEC2 Gene Mutation
Personal Story:
Isaac’s Syndrome
Support Organisation(s):
Isovaleric Aciduria (IVA)
Support Organisation(s):

J

K

Kabuki Syndrome
Support Organisation(s):
  • SAKKS Australian Organisation
Kartagener Syndrome
Personal Story:
KAT6A related disorders
Support Organisation(s):
Kennedys Disease
Support Organisation(s):
Klippel-Feil Syndrome
Klippel-Trenaunay Syndrome
Support Organisation(s):
Krabbe Disease
Support Organisation(s):

L

Lambert Eaton Myasthenic Syndrome (LEMS)
Support Organisation(s):
Large Granular Lymphocytic Leukemia (LGL)
Support Organisation(s):
Leukodystrophy
Support Organisation(s):
Limb-girdle Muscular Dystrophies (LGMD)
Support Organisation(s):
Lipedema
Support Organisation(s):
Liver Disease
Support Organisation(s):
Locked-in Syndrome
Loeys-Dietz Syndrome
Support Organisation(s):
Lupus
Support Organisation(s):
Lyme Disease
Support Organisation(s):
Lymphangioleiomyomatosis (LAM)
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:
Malan Syndrome
Support Organisation(s):
Maple Syrup Urine Disease (MSUD)
Support Organisation(s):
Personal Story:
Marfan Syndrome
Support Organisation(s):
Marinesco-Sjogren Syndrome
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):
McCune-Albright Syndrome
Support Organisation(s):
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)
Support Organisation(s):
Meniere’s Disease
Support Organisation(s):
Mesothelioma
Support Organisation(s):
Methylmalonic Aciduria (MMA)
Support Organisation(s):
Microcephaly
Support Organisation(s):
Mitochondrial Disease
Support Organisation(s):
Moebius Syndrome
Support Organisation(s):
Morvan’s Syndrome
Support Organisation(s):
Mosaic Trisomy 20
Personal Story:
Motor Neurone Disease
Support Organisation(s):
Motor Neurone Disease
Support Organisation(s):
Mowat Wilson Syndrome
Support Organisation(s):
Moyamoya
Support Organisation(s):
Mucolipidosis II, II/III, III Alpha/Beta
Mucolipidosis III Gamma
Mucopolysaccharidoses
Support Organisation(s):
Multiple Sclerosis
Support Organisation(s):
Multiple System Atrophy
Support Organisation(s):
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):
Personal Story:
Myelodysplastic Syndromes
Myelofibrosis (MF)
Support Organisation(s):
Myeloproliferative Neoplasm (MPN)
Support Organisation(s):
Myositis
Support Organisation(s):
Personal Story:

N

Narcolepsy
Support Organisation(s):
Narcolepsy with Cataplexy
Support Organisation(s):
Neonatal Myasthenia
Support Organisation(s):
Neurofibromatosis
Support Organisation(s):
Neuromyotonia
Support Organisation(s):
NGLY1 Deficiency
Support Organisation(s):
Niemann-Pick Disease
Support Organisation(s):
NLRC4-Associated Macrophage Activation Syndrome-Like Illness
Norrie Disease
Support Organisation(s):

O

Oculopharyngeal Muscular Dystrophy (OPMD)
Personal Story:
Ohdo Syndrome
Personal Story:
Ornithine Transcarbamylase Deficiency (OTC)
Support Organisation(s):
Osteogenesis Imperfecta
Support Organisation(s):
Personal Story:

P

Paroxysmal Nocturnal Haemoglobinuria
Support Organisation(s):
Partial Chromosonal Deletion
Personal Story:
Pelizaeus-Merzbacher disease (PMD)
Support Organisation(s):
Peripheral Nerve Hyperexcitability (PNH)
Support Organisation(s):
Periventricular Nodular Heterotopia
Personal Story:
Perthes Disease
Support Organisation(s):
Peutz-Jeghers Syndrome
Support Organisation(s):
Personal Story:
Phelan-McDermid Syndrome
Support Organisation(s):
Phenylketonuria (PKU)
Support Organisation(s):
Pierre Robin Sequence
Support Organisation(s):
Pigmented Villonodular Synovitis (PVNS)
Support Organisation(s):
Pitt-Hopkins Syndrome
Pituitary Conditions
Support Organisation(s):
Poland Syndrome
Support Organisation(s):
Polycystic Kidney Disease (PKD)
Support Organisation(s):
Polycythemia Vera (PV)
Support Organisation(s):
Polymicrogyria
Personal Story:
Pompe Disease
Support Organisation(s):
Porphyria
Support Organisation(s):
Potocki-Shaffer Syndrome
Support Organisation(s):
Prader-Willi Syndrome
Primary Biliary Cholongitis
Support Organisation(s):
Primary Ciliary Dyskinesia
Support Organisation(s):
Primary Immune Deficiencies
Primary Sclerosing Cholangitis
Support Organisation(s):
Progressive Familial Intrahepatic Cholestasis
Support Organisation(s):
Propionic Acidaemia (PA)
Support Organisation(s):
Pseudomyxoma Peritonei
Support Organisation(s):
Pulmonary Hypertension
Support Organisation(s):
Pulmonary Hypertension Association Australia
PURA Syndrome
Support Organisation(s):

Q

R

Rare Adipose Tissue Diseases
Support Organisation(s):
Relapsing Polychondritis
Personal Story:
Restless Legs Syndrome
Support Organisation(s):
Rett Syndrome
Support Organisation(s):
Riboflavin Transporter Deficiency

S

Sandhoff Disease
Support Organisation(s):
Sanfilippo Syndrome
Support Organisation(s):
Sarcoidosis
Support Organisation(s):
SATB2 Associated Syndrome
Support Organisation(s):
Schwannomatosis
Scleroderma
Support Organisation(s):
Personal Story:
SCN2A
Support Organisation(s):
Secondary Immune Deficiencies
Seizure Disorders
Sialidosis (Mucolipidosis I)
Sickle Cell Disease
Support Organisation(s):
Personal Story:
Silver Russell Syndrome
Sleep Apnea
Support Organisation(s):
Smoldering Systemic Mastocytosis (SSM)
Support Organisation(s):
Sotos Syndrome
Support Organisation(s):
Spinal Cerebrospinal Fluid (CSF) Leak
Support Organisation(s):
Spinal Muscular Atrophy
Support Organisation(s):
Spinocerebellar Ataxia
Support Organisation(s):
Personal Story:
Sporadic Inclusion Body Myositis
Support Organisation(s):
Personal Story:
Squamous Cell Carcinoma
Support Organisation(s):
Stargardt’s Disease
Support Organisation(s):
Stickler Syndrome
Support Organisation(s):
Still’s Disease
Personal Story:
STXBP1 disorders
Support Organisation(s):
STXBP1 Disorders
Support Organisation(s):
Superficial Siderosis
Support Organisation(s):
Superior Mesenteric Artery Syndrome (SMAS)
Support Organisation(s):
Personal Story:
Syngap
Support Organisation(s):
Systemic Autoimmune Illnesses
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):
Telomere Biology Disorders
Telomere Biology Disorders
Support Organisation(s):
Tenosynovial Giant Cell Tumour (TGCT)
Support Organisation(s):
Tourette Syndrome
Triple A Syndrome
Support Organisation(s):
Trisomy 18
Support Organisation(s):
Tryptase and Alpha Tryptasemia
Support Organisation(s):
Tuberous Sclerosis Complex (TSC)
Support Organisation(s):
Personal Story:
Tumor Necrosis Factor (TNF) Associated Periodic Syndrome (TRAPS)
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):

V

Vanishing White Matter
Support Organisation(s):
Vascular Abnormalities
Support Organisation(s):
Vasculitis
Support Organisation(s):
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):

X

X-linked Genetic Disorders
Support Organisation(s):
X-linked Hypophosphatemia
Support Organisation(s):
Personal Story:
XYY Syndrome
Support Organisation(s):

Y

Z

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