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: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Other
A
Aarskog Syndrome
Support Organisation(s):
The Aarskog FoundationRVA PartnerAustralian Organisation
Achalasia
Support Organisation(s):
Achalasia Australia & New Zealand Support GroupRVA PartnerAustralian Organisation
Acrodysostosis
Support Organisation(s):
Acrodysostosis Support and ResearchRVA PartnerAustralian Organisation
Personal Story:Frankie’s Story
Acute Necrotizing Encephalopathy
Support Organisation(s):
Acute Necrotising EncephalopathyRVA PartnerAustralian Organisation
Addison’s Disease
Support Organisation(s):
Australian Addisons Disease Association IncRVA PartnerAustralian Organisation
Personal Story:April’s Story
Aggressive Systemic Mastocytosis (ASM)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Aicardi Syndrome
Support Organisation(s):
Aicardi SyndromeRVA PartnerAustralian Organisation
Albinism
Support Organisation(s):
Albinism Fellowship AustraliaRVA PartnerAustralian Organisation
Allgrove Disease
Support Organisation(s):
Triple A SyndromeRVA PartnerAustralian Organisation
Alopecia Areata
Support Organisation(s):
Australia Alopecia Areata Foundation IncRVA PartnerAustralian Organisation
Alpha Thalassaemia
Support Organisation(s):
Thalassaemia & Sickle Cell AustraliaRVA PartnerAustralian Organisation
Alpha-1 Antitrypsin Deficiency (A1AD)
Support Organisation(s):
Alpha-1 Organisation Australia IncRVA PartnerAustralian Organisation
ALPHA-1 Association of AustraliaRVA PartnerAustralian Organisation
Alpha-Mannosidosis
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Alport Syndrome
Support Organisation(s):
Alports SyndromeRVA PartnerAustralian Organisation
Alström Syndrome
Support Organisation(s):
Alstrom SyndromeRVA PartnerAustralian Organisation
Amyloidosis
Support Organisation(s):
Australian Amyloidosis NetworkRVA PartnerAustralian Organisation
Angelman Syndrome
Support Organisation(s):
Foundation for Angelman Syndrome TherapeuticsRVA PartnerAustralian Organisation
Angelman Syndrome Association AustraliaRVA PartnerAustralian Organisation
AnoRectal Malformation
Support Organisation(s):
One in 5000 FoundationRVA PartnerAustralian Organisation
Anti-neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis
Personal Story:Kathryn’s Story
Apert Syndrome
Support Organisation(s):
Apert SyndromeRVA PartnerAustralian Organisation
Arginase Deficiency (ARG)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Argininosuccinic Acidemia (ASA)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Asbestos Related Disease
Support Organisation(s):
ReflectionsRVA PartnerAustralian Organisation
ReflectionsRVA PartnerAustralian Organisation
Aspartylglucosaminuria
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Ataxia-telangiectasia
Support Organisation(s):
BrAshA-T Ataxia-Telangiectasia LimitedRVA PartnerAustralian Organisation
ATTR60Ala
Personal Story:Vince’s Story
Australian and New Zealand Vasculitis Society
Support Organisation(s):
Australian and New Zealand Vasculitis SocietyRVA PartnerAustralian Organisation
B
Batten Disease
Support Organisation(s):
Batten Disease Support and Research AssociationRVA PartnerAustralian Organisation
Beta Thalassaemia
Support Organisation(s):
Thalassaemia & Sickle Cell AustraliaRVA PartnerAustralian Organisation
Beta-Mannosidosis
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Bleeding Disorders
Support Organisation(s):
Haemophilia Foundation Australia (HFA)RVA PartnerAustralian Organisation
Bone Marrow Failure
Support Organisation(s):
Fanconi Anaemia Support Australasia (FASA)RVA PartnerAustralian Organisation
Bone Marrow Failure Syndromes
Support Organisation(s):
Maddie Riewoldt’s VisionRVA PartnerAustralian Organisation
Bone Marrow Mastocytosis
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Brain Cancer
Support Organisation(s):
Adult Brain Cancer Support Association of South Australia (ABCSA)RVA PartnerAustralian Organisation
Brain Tumour
Support Organisation(s):
Brain Tumour Alliance Australia (BTAA)RVA PartnerAustralian Organisation
Brown-Vialetto-Van Laere
Support Organisation(s):
Cure Riboflavin Transporter Deficiency (RTD) FoundationRVA PartnerAustralian Organisation
C
CACNA1A
Support Organisation(s):
CACNA1A FoundationRVA PartnerAustralian Organisation
CADASIL Syndrome
Support Organisation(s):
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)
Support Organisation(s):
Angelina Cask Neurological Research FoundationRVA PartnerAustralian Organisation
Personal Story:Angelina’s Story
Cardiomyopathy
Support Organisation(s):
Children’s Cardiomyopathy Foundation IncRVA PartnerAustralian Organisation
Cardiomyopathy Association of Australia IncRVA PartnerAustralian Organisation
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):
Charcot-Marie-Tooth Association of AustraliaRVA PartnerAustralian Organisation
CHARGE Syndrome
Support Organisation(s):
CHARGE Syndrome Australasia LtdRVA PartnerAustralian Organisation
Charles Bonnet Syndrome
Support Organisation(s):
Charles Bonnet Syndrome FoundationRVA PartnerAustralian Organisation
Chiari Malformation
Support Organisation(s):
Brain FoundationRVA PartnerAustralian Organisation
Childhood Dementia
Support Organisation(s):
Childhood Dementia InitiativeRVA PartnerAustralian Organisation
Chromosome 15q Duplication Syndrome
Support Organisation(s):
Dup15q AustraliaRVA PartnerAustralian Organisation
Chromosome 18 Abnormality
Support Organisation(s):
Chromosome 18 InternationalRVA PartnerAustralian Organisation
Chromosome 5 Anomaly
Support Organisation(s):
Cri Du Chat Support Group of AustraliaRVA PartnerAustralian Organisation
Chronic Fatigue Syndrome (CFS)
Support Organisation(s):
ME CFS and Lyme Association of WARVA PartnerAustralian Organisation
Chronic Granulomatous Disorder
Support Organisation(s):
Chronic Granulomatous Disorder SocietyRVA PartnerAustralian Organisation
Chronic Idiopathic Neutropenia
Personal Story:Abbey’s Story
Chronic Intestinal Pseudo-Obstruction (CIPO)
Support Organisation(s):
Parenteral Nutrition Down Under (PNDU)RVA PartnerAustralian Organisation
Personal Story:Jodie’s Story
Chronic Recurrent Multifocal Osteomyelitis (CRMO)
Support Organisation(s):
Systemic Autoinflammatory Disease (SAID) SupportRVA PartnerAustralian Organisation
Circadian Rhythm Disorders
Support Organisation(s):
Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Citrullinaemia
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Cockayne Syndrome (CS)
Support Organisation(s):
Amy and Friends Cockayne Syndrome (CS) and Trichothiodystrophy (TTD) SupportRVA PartnerAustralian Organisation
Cogan’s Syndrome
Support Organisation(s):
Cogan’s SyndromeRVA PartnerAustralian Organisation
Cogan’s Syndrome Facebook GroupRVA PartnerAustralian Organisation
Cold Agglutinin Disease
Support Organisation(s):
Cold Agglutinin Disease FoundationRVA PartnerAustralian Organisation
Congenital Adrenal Hyperplasia
Support Organisation(s):
Congenital Adrenal Hyperplasia Support Group AustraliaRVA PartnerAustralian Organisation
Congenital Anomalies
Support Organisation(s):
Through the UnexpectedRVA PartnerAustralian Organisation
Congenital Bowel Disorder
Support Organisation(s):
Bowel Group for Kids IncRVA PartnerAustralian Organisation
Congenital Diaphragmatic Hernia
Support Organisation(s):
Congenital Diaphragmatic Hernia (CDH) AustraliaRVA PartnerAustralian Organisation
Congenital Myasthenia (CM)
Support Organisation(s):
Myasthenia Alliance AustraliaRVA PartnerAustralian Organisation
Myasthenia Gravis Association of QLDRVA PartnerAustralian Organisation
Congenital Panhypopituitarism
Personal Story:Vanessa’s Story
Cornelia de Lange Syndrome
Support Organisation(s):
Cornelia de Lange Syndrome Australasia AssociationRVA PartnerAustralian Organisation
Cortical Visual Impairment
Support Organisation(s):
CVI Community AustraliaRVA PartnerAustralian Organisation
Cramp Fasciculation Syndrome
Support Organisation(s):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
Craniofacial Conditions
Support Organisation(s):
Children’s Craniofacial AssociationRVA PartnerAustralian Organisation
Craniosynostosis
Support Organisation(s):
Craniosynostosis AustraliaRVA PartnerAustralian Organisation
Creutzfeldt-Jakob disease
Support Organisation(s):
Creutzfeldt Jakob Disease (CJD) Support GroupRVA PartnerAustralian Organisation
Cri du Chat Syndrome
Support Organisation(s):
Cri Du Chat Support Group of AustraliaRVA PartnerAustralian Organisation
Crohn’s Disease
Support Organisation(s):
Australian Crohn’s and Colitis Association (ACCA)RVA PartnerAustralian Organisation
Crusted Scabies
Support Organisation(s):
One Disease At a TimeRVA PartnerAustralian Organisation
Cryopyrin-associated Periodic Syndromes (CAPS)
Support Organisation(s):
Systemic Autoinflammatory Disease (SAID) SupportRVA PartnerAustralian Organisation
Cushing’s Syndrome
Support Organisation(s):
Cushing’s Support & Research FoundationRVA PartnerAustralian Organisation
Hormones AustraliaRVA PartnerAustralian Organisation
Cutaneous Mastocytoma
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Cutaneous Mastocytosis
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Cystathionine Beta-synthase Deficiency
Support Organisation(s):
HCU Network AustraliaRVA PartnerAustralian Organisation
Cystic Fibrosis
Support Organisation(s):
Cystic Fibrosis Federation AustraliaRVA PartnerAustralian Organisation
Cystic Fibrosis ACTRVA PartnerAustralian Organisation
Cystic Fibrosis QueenslandRVA PartnerAustralian Organisation
Cystic Fibrosis Western Australia
Support Organisation(s):
Cystic Fibrosis Western AustraliaRVA PartnerAustralian Organisation
Cystinosis
Support Organisation(s):
Australian Cystinosis Support GroupRVA PartnerAustralian Organisation
The Australian Cystinosis FoundationRVA PartnerAustralian Organisation
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):
Australia Dercum’s Disease Support GroupRVA PartnerAustralian Organisation
Diffuse Cutaneous Mastocytosis (DCM)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Disorder of the Corpus Callosum (DCC)
Support Organisation(s):
Australian Disorders of the Corpus Callosum (AusDoCC)RVA PartnerAustralian Organisation
Angelina Cask Neurological Research FoundationRVA PartnerAustralian Organisation
Personal Story:Angelina’s Story
Duchenne Muscular Dystrophy
Support Organisation(s):
Save Our SonsRVA PartnerAustralian Organisation
Duchenne AustraliaRVA PartnerAustralian Organisation
Dwarfism
Support Organisation(s):
Short Statured People of AustraliaRVA PartnerAustralian Organisation
Dyskeratosis Congenita Disorder
Support Organisation(s):
Dyskeratosis Congenita Outreach PacificRVA PartnerAustralian Organisation
Team TelomereRVA PartnerAustralian Organisation
Dysphonia
Support Organisation(s):
Australian Dysphonia NetworkRVA PartnerAustralian Organisation
E
Ectodermal Dysplasia
Support Organisation(s):
ozED – Australian Ectodermal Dysplasia Support GroupRVA PartnerAustralian Organisation
Edwards Syndrome
Support Organisation(s):
Edwards Syndrome (Trisomy 18)RVA PartnerAustralian Organisation
Ehlers-Danlos Syndrome
Support Organisation(s):
Ehlers-Danlos Support AustraliaRVA PartnerAustralian Organisation
Cairns Ehlers Danlos Support GroupRVA PartnerAustralian Organisation
Ehlers-Danlos Syndrome Australia National Support GroupRVA PartnerAustralian Organisation
Australian Ehlers-Danlos Syndrome AssociationRVA PartnerAustralian Organisation
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 FoundationRVA PartnerAustralian Organisation
Erdheim-Chester Disease
Support Organisation(s):
Erdheim-Chester Disease (ECD) Global AllianceRVA PartnerAustralian Organisation
Essential Thrombocythemia (ET)
Support Organisation(s):
MPN Alliance AustraliaRVA PartnerAustralian Organisation
F
Fabry Disease
Support Organisation(s):
Fabry AustraliaRVA PartnerAustralian Organisation
Facioscapulohumeral Dystrophy (FSHD)
Support Organisation(s):
FSHD Global Research FoundationRVA PartnerAustralian Organisation
FSHD Medical Education PortalRVA PartnerAustralian Organisation
Facioscapulohumeral Muscular Dystrophy
Support Organisation(s):
FSHD Global Research FoundationRVA PartnerAustralian Organisation
FSHD Medical Education PortalRVA PartnerAustralian Organisation
Familial Hypercholesterolaemia
Support Organisation(s):
Familial Hypercholesterolemia Australasia NetworkRVA PartnerAustralian Organisation
Familial Mediterranean Fever & Autoinflammatory Diseases Australia
Support Organisation(s):
Familial Mediterranean Fever & Autoinflammatory Diseases AustraliaRVA PartnerAustralian Organisation
Fanconi Anaemia (Fanconi Anemia)
Support Organisation(s):
Fanconi Anaemia Support Australasia (FASA)RVA PartnerAustralian Organisation
Fatty Oxidation Disorders
Support Organisation(s):
Fatty Oxidation Disorders (FOD) Family Support GroupRVA PartnerAustralian Organisation
Fazio-Londe
Support Organisation(s):
Cure Riboflavin Transporter Deficiency (RTD) FoundationRVA PartnerAustralian Organisation
Fibrodysplasia Ossificans Progressiva (FOP)
Support Organisation(s):
Fibrodysplasia Ossificans Progressiva (FOP)RVA PartnerAustralian Organisation
Personal Story:Brooke’s Story
Fibromuscular Dysplasia (FMD)
Personal Story:Kate’s Story
Fibrous Dysplasia
Support Organisation(s):
Fibrous Dysplasia/McCune Albright Syndrome AustraliaRVA PartnerAustralian Organisation
Four H Syndrome (4H Syndrome)
Support Organisation(s):
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
FOXG1 Syndrome
Support Organisation(s):
International Foxg1 Foundation AustraliaRVA PartnerAustralian Organisation
FOXG1 Research Foundation AustraliaRVA PartnerAustralian Organisation
Fragile X Syndrome
Support Organisation(s):
Fragile X Association of AustraliaRVA PartnerAustralian Organisation
Friedreich Ataxia
Support Organisation(s):
Friedreich Ataxia NetworkRVA PartnerAustralian Organisation
Friedreich Ataxia Research AssociationRVA PartnerAustralian Organisation
Fucosidosis
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
G
Galactosaemia
Support Organisation(s):
Australian Galactosaemia Support NetworkRVA PartnerAustralian Organisation
Galactosialidosis
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Gaucher Disease
Support Organisation(s):
Gaucher Association of Australia & NZRVA PartnerAustralian Organisation
Generalized Arterial Calcification of Infancy
Support Organisation(s):
Generalized Arterial Calcification of Infancy (GACI) GlobalRVA PartnerAustralian Organisation
Genetic Cures for Kids (Our Moon’s Mission)
Glutaric Acidaemia Type 1 (GA1)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Guillain-Barre Syndrome
Personal Story:Tim’s Story
H
Haemochromatosis
Support Organisation(s):
Haemochromatosis AustraliaRVA PartnerAustralian Organisation
Haemoglobin E
Support Organisation(s):
Thalassaemia & Sickle Cell AustraliaRVA PartnerAustralian Organisation
Haemophilia
Support Organisation(s):
Haemophilia Foundation Australia (HFA)RVA PartnerAustralian Organisation
Head and Neck Cancer
Support Organisation(s):
Fanconi Anaemia Support Australasia (FASA)RVA PartnerAustralian Organisation
Hereditary Alpha Tryptasemia (HAT)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Hereditary Angioedema
Support Organisation(s):
HAE AustralasiaRVA PartnerAustralian Organisation
Hereditary Spastic Paraplegia
Support Organisation(s):
HSP Research Foundation Inc.RVA PartnerAustralian Organisation
Hereditary Spastic Paraplegia (HSP)Type 56 (SPG56)
Support Organisation(s):
Genetic Cures for Kids (Our Moon’s Mission)RVA PartnerAustralian Organisation
Hirschsprung’s Disease
Support Organisation(s):
Help for Hirschsprung DiseaseRVA PartnerAustralian Organisation
Bowel Group for Kids IncRVA PartnerAustralian Organisation
HLA-B27 gene
Personal Story:Adam’s Story
HNRNPH2 Mutations
Support Organisation(s):
Yellow Brick Road ProjectRVA PartnerAustralian Organisation
Homer Mutations Disease
Support Organisation(s):
Homer HackRVA PartnerAustralian Organisation
Homocystinuria (HCU)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
HCU Network AustraliaRVA PartnerAustralian Organisation
Huntington’s Disease
Support Organisation(s):
Australian Huntington’s Disease Association (NSW) Inc.RVA PartnerAustralian Organisation
Huntington’s Victoria (HV)RVA PartnerAustralian Organisation
Huntington’s NSW ACTRVA PartnerAustralian Organisation
Huntington’s Western AustraliaRVA PartnerAustralian Organisation
Hydrocephalus
Support Organisation(s):
Hydrocephalus Support AssociationRVA PartnerAustralian Organisation
Hyper-Igd Syndrome
Support Organisation(s):
Systemic Autoinflammatory Disease (SAID) SupportRVA PartnerAustralian Organisation
Hypermobility Spectrum Disorders
Support Organisation(s):
Ehlers-Danlos Support AustraliaRVA PartnerAustralian Organisation
Hypophosphatemic Rickets
Support Organisation(s):
Generalized Arterial Calcification of Infancy (GACI) GlobalRVA PartnerAustralian Organisation
I
Idiopathic Hypersomnia
Support Organisation(s):
Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Hypersomnolence AustraliaRVA PartnerAustralian Organisation
Idiopathic Intracranial Hypertension
Support Organisation(s):
Idiopathic Intracranial HypertensionRVA PartnerAustralian Organisation
Idiopathic Pulmonary Hypertension
Personal Story:Grace’s Story
Idiopathic Thrombocytopenic Purpura
Support Organisation(s):
Idiopathic Thrombocytopenia Purpura (ITP) AustraliaRVA PartnerAustralian Organisation
Personal Story:Hudson’s StoryDanielle’s Story
Immune Thrombocytopenia
Support Organisation(s):
Idiopathic Thrombocytopenia Purpura (ITP) AustraliaRVA PartnerAustralian Organisation
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):
Myositis Association Australia IncRVA PartnerAustralian Organisation
Personal Story:Damian’s Story
Incontinence
Support Organisation(s):
Continence Foundation of AustraliaRVA PartnerAustralian Organisation
Indolent Systemic Mastocytosis (ISM)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Infantile Spasms
Support Organisation(s):
Epilepsy FoundationRVA PartnerAustralian Organisation
Inflammatory Bowel Disease
Support Organisation(s):
Australian Crohn’s and Colitis Association (ACCA)RVA PartnerAustralian Organisation
Insomnia
Support Organisation(s):
Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Interstitial Lung Diseases (ILD)
Support Organisation(s):
Lung Foundation AustraliaRVA PartnerAustralian Organisation
Intestinal Failure
Support Organisation(s):
Parenteral Nutrition Down Under (PNDU)RVA PartnerAustralian Organisation
IQSEC2 Gene Mutation
Personal Story:Lloyd’s Story
Isaac’s Syndrome
Support Organisation(s):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
Isovaleric Aciduria (IVA)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
J
K
Kabuki Syndrome
Support Organisation(s):
SAKKSRVA PartnerAustralian Organisation
Kartagener Syndrome
Personal Story:William’s Story
KAT6A related disorders
Support Organisation(s):
KAT6A related disordersRVA PartnerAustralian Organisation
Kennedys Disease
Support Organisation(s):
Kennedys Disease DownunderRVA PartnerAustralian Organisation
Klippel-Feil Syndrome
Support Organisation(s):
Klippel-Feil Syndrome FreedomRVA PartnerAustralian Organisation
Klippel-Feil Syndrome Support GroupRVA PartnerAustralian Organisation
Krabbe Disease
Support Organisation(s):
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
L
Lambert Eaton Myasthenic Syndrome (LEMS)
Support Organisation(s):
Myasthenia Alliance AustraliaRVA PartnerAustralian Organisation
Myasthenia Gravis Association of QLDRVA PartnerAustralian Organisation
Large Granular Lymphocytic Leukemia (LGL)
Support Organisation(s):
Without a RibbonRVA PartnerAustralian Organisation
Leukodystrophy
Support Organisation(s):
Mission Massimo FoundationRVA PartnerAustralian Organisation
Leukodystrophy Resource & Research Organisation Inc.RVA PartnerAustralian Organisation
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
Limb-girdle Muscular Dystrophies (LGMD)
Support Organisation(s):
Daniel Ferguson LGMD FoundationRVA PartnerAustralian Organisation
Lipedema
Support Organisation(s):
Australia Dercum’s Disease Support GroupRVA PartnerAustralian Organisation
Liver Disease
Support Organisation(s):
Liver FoundationRVA PartnerAustralian Organisation
Locked-in Syndrome
Support Organisation(s):
LiSA – Locked-in Syndrome Association Community ForumRVA PartnerAustralian Organisation
Lupus
Support Organisation(s):
Lupus Association of NSW IncRVA PartnerAustralian Organisation
Lyme Disease
Support Organisation(s):
Sarcoidosis Lyme AustraliaRVA PartnerAustralian Organisation
Lyme Disease Association of AustraliaRVA PartnerAustralian Organisation
Australian Lyme Disease AssociationRVA PartnerAustralian Organisation
Lymphangioleiomyomatosis (LAM)
Support Organisation(s):
LAM Australia Research AllianceRVA PartnerAustralian Organisation
M
3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Maculopapular Cutaneous Mastocytosis(MPCM)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mal de Debarquement Syndrome
Support Organisation(s):
Mal de Debarquement Syndrome (MdDS) AustraliaRVA PartnerAustralian Organisation
Personal Story:Naomi’s Story
Malan Syndrome
Support Organisation(s):
Malan Syndrome FoundationRVA PartnerAustralian Organisation
Maple Syrup Urine Disease (MSUD)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Personal Story:Ava’s Story
Marfan Syndrome
Support Organisation(s):
Marfan Association QueenslandRVA PartnerAustralian Organisation
Marinesco-Sjogren Syndrome
Support Organisation(s):
Marinesco-Sjogren Syndrome Support GroupRVA PartnerAustralian Organisation
Maroteaux-Lamy Syndrome
Support Organisation(s):
Mucopolysaccharide & Related Diseases Society AustraliaRVA PartnerAustralian Organisation
Mast Cell Activation Disorder
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mast Cell Activation Syndrome (MCAS)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mast Cell Diseases
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mast Cell Leukemia
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mast Cell Sarcoma
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Mastocytosis
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
McCune-Albright Syndrome
Support Organisation(s):
Fibrous Dysplasia/McCune Albright Syndrome AustraliaRVA PartnerAustralian Organisation
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)
Support Organisation(s):
The MMIHS FoundationRVA PartnerAustralian Organisation
Meniere’s Disease
Support Organisation(s):
Meniere’s Disease AustraliaRVA PartnerAustralian Organisation
Mesothelioma
Support Organisation(s):
ReflectionsRVA PartnerAustralian Organisation
ReflectionsRVA PartnerAustralian Organisation
Methylmalonic Aciduria (MMA)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
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):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
Mosaic Trisomy 20
Personal Story:Gisele’s Story
Motor Neurone Disease
Support Organisation(s):
Motor Neurone Disease AustraliaRVA PartnerAustralian Organisation
Mowat Wilson Syndrome
Support Organisation(s):
Mowat Wilson SyndromeRVA PartnerAustralian Organisation
Mucolipidosis II, II/III, III Alpha/Beta
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Mucolipidosis III Gamma
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Mucopolysaccharidoses
Support Organisation(s):
Mucopolysaccharide & Related Diseases Society AustraliaRVA PartnerAustralian Organisation
Multiple Sclerosis
Support Organisation(s):
Multiple Sclerosis (MS) AustraliaRVA PartnerAustralian Organisation
Multiple System Atrophy
Support Organisation(s):
Multiple System AtrophyRVA PartnerAustralian Organisation
Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis (MuSK)
Support Organisation(s):
Myasthenia Alliance AustraliaRVA PartnerAustralian Organisation
Myasthenia Gravis Association of QLDRVA PartnerAustralian Organisation
Muscular Dystrophy
Support Organisation(s):
Muscular Dystrophy NSWRVA PartnerAustralian Organisation
Muscular Dystrophy Foundation AustraliaRVA PartnerAustralian Organisation
Muscular Dystrophy QLDRVA PartnerAustralian Organisation
Muscular Dystrophy WARVA PartnerAustralian Organisation
Myalgic Encephalomyelitis (ME)
Support Organisation(s):
ME CFS and Lyme Association of WARVA PartnerAustralian Organisation
Myasthenia Gravis
Support Organisation(s):
Myasthenia Alliance AustraliaRVA PartnerAustralian Organisation
Myasthenia Gravis Association of NSWRVA PartnerAustralian Organisation
Myasthenia Gravis Association of QLDRVA PartnerAustralian Organisation
Personal Story:Sophie’s Story
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):
Myositis Association Australia IncRVA PartnerAustralian Organisation
Personal Story:Lachy’s Story
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):
Myasthenia Alliance AustraliaRVA PartnerAustralian Organisation
Myasthenia Gravis Association of QLDRVA PartnerAustralian Organisation
Neurofibromatosis
Support Organisation(s):
Children’s Tumour FoundationRVA PartnerAustralian Organisation
Neuromyotonia
Support Organisation(s):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
NGLY1 Deficiency
Support Organisation(s):
Grace Science FoundationRVA PartnerAustralian Organisation
Niemann-Pick Disease
Support Organisation(s):
Australian NPC Disease Foundation IncRVA PartnerAustralian Organisation
NLRC4-Associated Macrophage Activation Syndrome-Like Illness
Support Organisation(s):
Systemic Autoinflammatory Disease (SAID) SupportRVA PartnerAustralian Organisation
Norrie Disease
Support Organisation(s):
Norrie DiseaseRVA PartnerAustralian Organisation
O
Ohdo Syndrome
Personal Story:Emma’s Story
Ornithine Transcarbamylase Deficiency (OTC)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Osteogenesis Imperfecta
Support Organisation(s):
Osteogenisis ImperfectaRVA PartnerAustralian Organisation
Personal Story:Lily’s Story
P
Paroxysmal Nocturnal Haemoglobinuria
Support Organisation(s):
PNH Support Association of AustraliaRVA PartnerAustralian Organisation
Partial Chromosonal Deletion
Personal Story:Belinda’s Story
Pelizaeus-Merzbacher disease (PMD)
Support Organisation(s):
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
Peripheral Nerve Hyperexcitability (PNH)
Support Organisation(s):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
Periventricular Nodular Heterotopia
Personal Story:Andrew’s Story
Perthes Disease
Support Organisation(s):
Perthes Disease Support Group AustraliaRVA PartnerAustralian Organisation
Peutz-Jeghers Syndrome
Support Organisation(s):
Peutz-Jeghers Syndrome Australian Support GroupRVA PartnerAustralian Organisation
Personal Story:Matthew’s Story
Phelan-McDermid Syndrome
Support Organisation(s):
Phelan-McDermid Syndrome Foundation AustraliaRVA PartnerAustralian Organisation
Phenylketonuria (PKU)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
PKU (Phenylketonuria) Association of NSWRVA PartnerAustralian Organisation
Pierre Robin Sequence
Support Organisation(s):
Pierre Robin SyndromeRVA PartnerAustralian Organisation
Pitt-Hopkins Syndrome
Support Organisation(s):
Pitt-Hopkins Syndrome – New Zealand, AustraliaRVA PartnerAustralian Organisation
Pituitary Conditions
Support Organisation(s):
Australian Pituitary FoundationRVA PartnerAustralian Organisation
Poland Syndrome
Support Organisation(s):
Poland Syndrome Support AssociationRVA PartnerAustralian Organisation
POLAND SYNDROMIGHTIESRVA PartnerAustralian Organisation
Personal Story:Adrian’s StoryJoan’s Story
Polycystic Kidney Disease (PKD)
Support Organisation(s):
Polycystic Kidney Disease AssociationRVA PartnerAustralian Organisation
Polycythemia Vera (PV)
Support Organisation(s):
MPN Alliance AustraliaRVA PartnerAustralian Organisation
Polymicrogyria
Personal Story:Andrew’s Story
Pompe Disease
Support Organisation(s):
Australian Pompe AssociationRVA PartnerAustralian Organisation
Porphyria
Support Organisation(s):
Porphyria Association AustraliaRVA PartnerAustralian Organisation
Potocki-Shaffer Syndrome
Support Organisation(s):
Potocki-Shaffer SyndromeRVA PartnerAustralian Organisation
Prader-Willi Syndrome
Support Organisation(s):
Prader-Willi Syndrome Association of VictoriaRVA PartnerAustralian Organisation
Prader-Willi Research Foundation of AustraliaRVA PartnerAustralian Organisation
Prader-Willi Syndrome Association of AustraliaRVA PartnerAustralian Organisation
Primary Biliary Cholongitis
Support Organisation(s):
PBC – Australian & NZRVA PartnerAustralian Organisation
Primary Ciliary Dyskinesia
Support Organisation(s):
Primary Ciliary Dyskinesia (PCD) AustraliaRVA PartnerAustralian Organisation
Personal Story:William’s StoryCatherine’s Story
Primary Immune Deficiencies
Support Organisation(s):
Immune Deficiencies Foundation Australia (IDFA)RVA PartnerAustralian Organisation
Primary Sclerosing Cholangitis
Support Organisation(s):
PSC Australia (Australian Primary Sclerosing Cholangitis)RVA PartnerAustralian Organisation
Progressive Familial Intrahepatic Cholestasis
Support Organisation(s):
Progressive Familial Intrahepatic Cholestasis (PFIC) NetworkRVA PartnerAustralian Organisation
Propionic Acidaemia (PA)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
Pseudomyxoma Peritonei
Support Organisation(s):
Pseudomyxoma SurvivorRVA PartnerAustralian Organisation
Pulmonary Hypertension
Support Organisation(s):
Pulmonary Hypertension Association Australia (PHAA)RVA PartnerAustralian Organisation
Pulmonary Hypertension Association Australia
Support Organisation(s):
Pulmonary Hypertension Association AustraliaRVA PartnerAustralian Organisation
Q
R
Rare Adipose Tissue Diseases
Support Organisation(s):
Australia Dercum’s Disease Support GroupRVA PartnerAustralian Organisation
Relapsing Polychondritis
Personal Story:Louise’s Story
Restless Legs Syndrome
Support Organisation(s):
Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Rett Syndrome
Support Organisation(s):
Rett Syndrome Association of AustraliaRVA PartnerAustralian Organisation
Riboflavin Transporter Deficiency
Support Organisation(s):
Cure Riboflavin Transporter Deficiency (RTD) FoundationRVA PartnerAustralian Organisation
S
Sandhoff Disease
Support Organisation(s):
Rare Find FoundationRVA PartnerAustralian Organisation
Sanfilippo Syndrome
Support Organisation(s):
Sanfilippo Children’s FoundationRVA PartnerAustralian Organisation
Sarcoidosis
Support Organisation(s):
Sarcoidosis Lyme AustraliaRVA PartnerAustralian Organisation
SATB2 Associated Syndrome
Support Organisation(s):
SATB2 ConnectRVA PartnerAustralian Organisation
Schindler Disease
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Schwannomatosis
Scleroderma
Support Organisation(s):
Scleroderma AustraliaRVA PartnerAustralian Organisation
Scleroderma Association of QueenslandRVA PartnerAustralian Organisation
Scleroderma VictoriaRVA PartnerAustralian Organisation
Personal Story:Claudia’s Story
SCN2A
Support Organisation(s):
SCN2A AustraliaRVA PartnerAustralian Organisation
Personal Story:Lachy’s StoryEva’s StoryGabriela’s StoryJacob’s Story
Secondary Immune Deficiencies
Support Organisation(s):
Immune Deficiencies Foundation Australia (IDFA)RVA PartnerAustralian Organisation
Seizure Disorders
Sialidosis (Mucolipidosis I)
Support Organisation(s):
International Advocate for Glycoprotein Diseases (ISMRD)RVA PartnerAustralian Organisation
Sickle Cell Disease
Support Organisation(s):
Australian Sickle Cell Advocacy IncRVA PartnerAustralian Organisation
Thalassaemia & Sickle Cell AustraliaRVA PartnerAustralian Organisation
Personal Story:Peter’s Story
Silver Russell Syndrome
Support Organisation(s):
Silver Russell Syndrome Global AllianceRVA PartnerAustralian Organisation
Sleep Apnea
Support Organisation(s):
Sleep Disorders AustraliaRVA PartnerAustralian Organisation
Smoldering Systemic Mastocytosis (SSM)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Sotos Syndrome
Support Organisation(s):
Sotos Syndrome Association of AustralasiaRVA PartnerAustralian Organisation
Spinal Cerebrospinal Fluid (CSF) Leak
Support Organisation(s):
Brain FoundationRVA PartnerAustralian Organisation
Spinal Muscular Atrophy
Support Organisation(s):
Spinal Muscular Atrophy Association of AustraliaRVA PartnerAustralian Organisation
Spinocerebellar Ataxia
Support Organisation(s):
Spinocerebellar Ataxia AustraliaRVA PartnerAustralian Organisation
Personal Story:Beck’s Story
Sporadic Inclusion Body Myositis
Support Organisation(s):
Myositis Association Australia IncRVA PartnerAustralian Organisation
Personal Story:Tracy’s Story
Squamous Cell Carcinoma
Support Organisation(s):
Fanconi Anaemia Support Australasia (FASA)RVA PartnerAustralian Organisation
Stargardt’s Disease
Support Organisation(s):
Stargardt’s AustraliaRVA PartnerAustralian Organisation
Still’s Disease
Personal Story:Tim’s Story
STXBP1 Disorders
Support Organisation(s):
STXBP1 FoundationRVA PartnerAustralian Organisation
Superficial Siderosis
Support Organisation(s):
Superficial Siderosis Research AllianceRVA PartnerAustralian Organisation
Superior Mesenteric Artery Syndrome (SMAS)
Support Organisation(s):
Parenteral Nutrition Down Under (PNDU)RVA PartnerAustralian Organisation
Personal Story:Ebony’s Story
Systemic Autoimmune Illnesses
Support Organisation(s):
Autoimmune Resource and Research Centre (ARRC)RVA PartnerAustralian Organisation
Systemic Mastocytosis
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Systemic Mastocytosis with an Associated Hematologic Neoplasm
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
T
Tarlov Cyst Disease
Support Organisation(s):
Tarlov Cyst Disease FoundationRVA PartnerAustralian Organisation
Tay-Sachs Disease
Support Organisation(s):
Rare Find FoundationRVA PartnerAustralian Organisation
Telomere Biology Disorders
Support Organisation(s):
Team TelomereRVA PartnerAustralian Organisation
Telomere Biology Disorders
Support Organisation(s):
Dyskeratosis Congenita Outreach PacificRVA PartnerAustralian Organisation
Tourette Syndrome
Support Organisation(s):
Tourette Syndrome Association of AustraliaRVA PartnerAustralian Organisation
Trichothiodystrophy (TTD)
Support Organisation(s):
Amy and Friends Cockayne Syndrome (CS) and Trichothiodystrophy (TTD) SupportRVA PartnerAustralian Organisation
Triple A Syndrome
Support Organisation(s):
Triple A SyndromeRVA PartnerAustralian Organisation
Trisomy 18
Support Organisation(s):
Trisomy 18 Support FoundationRVA PartnerAustralian Organisation
Tryptase and Alpha Tryptasemia
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Tuberous Sclerosis Complex (TSC)
Support Organisation(s):
Tuberous Sclerosis Australia (TSA)RVA PartnerAustralian Organisation
Personal Story:Jemima’s Story
Tumor Necrosis Factor (TNF) Associated Periodic Syndrome (TRAPS)
Support Organisation(s):
Systemic Autoinflammatory Disease (SAID) SupportRVA PartnerAustralian Organisation
Turner Syndrome
Support Organisation(s):
Turner Syndrome Association of AustraliaRVA PartnerAustralian Organisation
Tyrosinaemia Type 1 & 2 (TYRO)
Support Organisation(s):
Metabolic Dietary Disorders Association (MDDA)RVA PartnerAustralian Organisation
U
Ulcerative Colitis
Support Organisation(s):
Australian Crohn’s and Colitis Association (ACCA)RVA PartnerAustralian Organisation
Undiagnosed genetic conditions
Support Organisation(s):
Syndromes Without A Name (SWAN) AustraliaRVA PartnerAustralian Organisation
Urticaria Pigmentosa (UP)
Support Organisation(s):
Australasian Mastocytosis SocietyRVA PartnerAustralian Organisation
Usher Syndrome
Support Organisation(s):
Usher Kids AustraliaRVA PartnerAustralian Organisation
V
Vanishing White Matter
Support Organisation(s):
Leukodystrophy AustraliaRVA PartnerAustralian Organisation
Vascular Abnormalities
Support Organisation(s):
CMTC-OVMRVA PartnerAustralian Organisation
Vasculitis
Support Organisation(s):
Australia and New Zealand Vasculitis Society (ANZVASC)RVA PartnerAustralian Organisation
VGKC Associated Limbic Encephalitis
Support Organisation(s):
Isaac’s Syndrome – Support GroupRVA PartnerAustralian Organisation
Von Willebrand Disease
Support Organisation(s):
Haemophilia Foundation Australia (HFA)RVA PartnerAustralian Organisation
W
Wiedemann-Steiner Syndrome
Support Organisation(s):
Wiedemann-Steiner SyndromeRVA PartnerAustralian Organisation
Williams Syndrome
Support Organisation(s):
Williams SyndromeRVA PartnerAustralian Organisation
Williams Syndrome AustraliaRVA PartnerAustralian Organisation
X
X-linked Genetic Disorders
Support Organisation(s):
Remember the GirlsRVA PartnerAustralian Organisation
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 Ethical Health Alliance Australian Organisation
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
Donor Conception Support Group of Australia Australian Organisation
Epilepsy Foundation Australian Organisation
Rare Disease(s): Infantile Spasms
Genetic Alliance Australia RVA PartnerAustralian Organisation
Genetic Support Network Victoria (GSNV) RVA PartnerAustralian Organisation
Liver Foundation
Rare Disease(s): Liver Disease
Muscoskeletal Australia Australian Organisation
Queensland Parents for People with a Disasbility (QPPD) Inc Australian Organisation
Retina Australia Australian Organisation
Ronald McDonald House Charities Australia Australian Organisation
Senses Australia Australian Organisation
Syndromes Without A Name (SWAN) Australia Australian Organisation
Rare Disease(s): Undiagnosed genetic conditions