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: 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): 


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): 


Allgrove Disease

Support Organisation(s): 

Triple A SyndromeRVA PartnerAustralian Organisation


Alopecia Areata

Support Organisation(s): 


Alpha Thalassaemia

Support Organisation(s): 

Personal Story:Peter’s Story


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


Amyloidosis

Support Organisation(s): 


Angelman Syndrome

Support Organisation(s): 


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): 


Argininosuccinic Acidemia (ASA)

Support Organisation(s): 


Asbestos Related Disease

Support Organisation(s): 

ReflectionsRVA PartnerAustralian Organisation
ReflectionsRVA PartnerAustralian Organisation


Aspartylglucosaminuria

Support Organisation(s): 


Ataxia-telangiectasia

Support Organisation(s): 


ATTR60Ala

Personal Story:Vince’s Story


Australian and New Zealand Vasculitis Society

Support Organisation(s): 


B

Batten Disease

Support Organisation(s): 


Beta Thalassaemia


Beta-Mannosidosis

Support Organisation(s): 


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

Support Organisation(s): 


C

CACNA1A

Support Organisation(s): 

CACNA1A FoundationRVA PartnerAustralian Organisation


CADASIL Syndrome

Support Organisation(s): 


Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)

Support Organisation(s): 

Personal Story:Angelina’s Story


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): 


Chiari Malformation

Support Organisation(s): 

Brain FoundationRVA PartnerAustralian Organisation


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 Idiopathic Neutropenia

Personal Story:Abbey’s Story


Chronic Intestinal Pseudo-Obstruction (CIPO)

Support Organisation(s): 

Personal Story:Jodie’s Story


Chronic Recurrent Multifocal Osteomyelitis (CRMO)

Support Organisation(s): 


Circadian Rhythm Disorders

Support Organisation(s): 


Citrullinaemia

Support Organisation(s): 


Cockayne Syndrome (CS)

Support Organisation(s): 


Cogan’s Syndrome

Support Organisation(s): 


Cold Agglutinin Disease

Support Organisation(s): 


Cone-Rod Dystrophy

Personal Story:Leo’s Story


Congenital Adrenal Hyperplasia

Support Organisation(s): 


Congenital Anomalies

Support Organisation(s): 

Through the UnexpectedRVA PartnerAustralian Organisation


Congenital Bowel Disorder

Support Organisation(s): 


Congenital Diaphragmatic Hernia

Support Organisation(s): 


Congenital Myasthenia (CM)

Support Organisation(s): 


Congenital Panhypopituitarism

Personal Story:Vanessa’s Story


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


Cryopyrin-associated Periodic Syndromes (CAPS)

Support Organisation(s): 


Cushing’s Syndrome

Support Organisation(s): 


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): 


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


Dercum’s Disease

Support Organisation(s): 


DeSanto-Shinawi Syndrome

Support Organisation(s): 


Diffuse Cutaneous Mastocytosis (DCM)

Support Organisation(s): 


Disorder of the Corpus Callosum (DCC)

Support Organisation(s): 

Personal Story:Angelina’s Story


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): 


Dysphonia

Support Organisation(s): 


Dystonia

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


Eosinophilic Disorders


Eosinophilic Duodenitis


Eosinophilic Enteritis


Eosinophilic Gastritis


Eosinophilic Gastroenteritis


Eosinophilic Gastrointestinal Disorders


Eosinophilic Oesophagitis (Eosinophilic Esophagitis)


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): 


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): 


Facioscapulohumeral Muscular Dystrophy

Support Organisation(s): 


Familial Hypercholesterolaemia

Support Organisation(s): 


Familial Mediterranean Fever & Autoinflammatory Diseases Australia

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


Fibrous Dysplasia

Support Organisation(s): 


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): 


Genetic Cures for Kids (Our Moon’s Mission)


Glutaric Acidaemia Type 1 (GA1)

Support Organisation(s): 


Guillain-Barre Syndrome

Personal Story:Tim’s Story


H

Haemochromatosis

Support Organisation(s): 


Haemoglobin E


Haemophilia

Support Organisation(s): 


Head and Neck Cancer

Support Organisation(s): 


Hennekam Syndrome

Personal Story:Ryan’s Story


Hereditary Alpha Tryptasemia (HAT)

Support Organisation(s): 


Hereditary Angioedema

Support Organisation(s): 

HAE AustralasiaRVA PartnerAustralian Organisation


Hereditary Spastic Paraplegia

Support Organisation(s): 


Hereditary Spastic Paraplegia (HSP)Type 56 (SPG56)

Support Organisation(s): 


Hirschsprung’s Disease

Support Organisation(s): 


HLA-B27 gene

Personal Story:Adam’s Story


HNRNPH2 Mutations

Support Organisation(s): 


Homer Mutations Disease

Support Organisation(s): 

Homer HackRVA PartnerAustralian Organisation


Homocystinuria (HCU)

Support Organisation(s): 


Huntington’s Disease

Support Organisation(s): 


Hydrocephalus

Support Organisation(s): 


Hyper-Igd Syndrome

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 StoryDanielle’s Story


Immune Thrombocytopenia

Support Organisation(s): 


Imperforate Anus

Support Organisation(s): 

One in 5000 FoundationRVA 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): 


Infantile Spasms

Support Organisation(s): 

Epilepsy FoundationRVA PartnerAustralian Organisation


Inflammatory Bowel Disease

Support Organisation(s): 


Insomnia

Support Organisation(s): 


Interstitial Lung Diseases (ILD)

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): 

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): 


Klippel-Feil 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): 

Without a RibbonRVA PartnerAustralian Organisation


Leukodystrophy

Support Organisation(s): 


Limb-girdle Muscular Dystrophies (LGMD)

Support Organisation(s): 


Lipedema


Liver Disease

Support Organisation(s): 

Liver FoundationRVA PartnerAustralian Organisation


Locked-in Syndrome

Support Organisation(s): 


Lupus

Support Organisation(s): 


Lyme Disease

Support Organisation(s): 


Lymphangioleiomyomatosis (LAM)

Support Organisation(s): 

Living with LAMRVA PartnerAustralian Organisation


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


Malan Syndrome

Support Organisation(s): 


Maple Syrup Urine Disease (MSUD)

Support Organisation(s): 

Personal Story:Ava’s Story


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): 


McCune-Albright Syndrome

Support Organisation(s): 


Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)

Support Organisation(s): 

The MMIHS FoundationRVA PartnerAustralian Organisation


Meniere’s Disease

Support Organisation(s): 


Mesothelioma

Support Organisation(s): 

ReflectionsRVA PartnerAustralian Organisation
ReflectionsRVA 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): 


Mosaic Trisomy 20

Personal Story:Gisele’s Story


Motor Neurone Disease

Support Organisation(s): 


Mowat Wilson Syndrome

Support Organisation(s): 

Mowat Wilson SyndromeRVA PartnerAustralian Organisation


Moyamoya

Support Organisation(s): 

Moyamoya AustraliaRVA 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): 

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): 

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): 


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

Support Organisation(s): 


Norrie Disease

Support Organisation(s): 

Norrie DiseaseRVA PartnerAustralian Organisation


O

Ohdo Syndrome

Personal Story:Emma’s Story


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): 


Peutz-Jeghers Syndrome

Support Organisation(s): 

Personal Story:Matthew’s Story


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): 

Personal Story:Adrian’s StoryJoan’s Story


Polycystic Kidney Disease (PKD)

Support Organisation(s): 

PKD AustraliaRVA PartnerAustralian Organisation


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 Biliary Cholongitis

Support Organisation(s): 

PBC – Australian & NZRVA PartnerAustralian Organisation


Primary Ciliary Dyskinesia

Support Organisation(s): 

Personal Story:William’s StoryCatherine’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): 


Pulmonary Hypertension Association Australia

Support Organisation(s): 


Q

R

Rare Adipose Tissue Diseases


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): 


SATB2 Associated Syndrome

Support Organisation(s): 

SATB2 ConnectRVA PartnerAustralian Organisation


Schindler Disease

Support Organisation(s): 


Schwannomatosis


Scleroderma

Support Organisation(s): 

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): 


Seizure Disorders


Sialidosis (Mucolipidosis I)

Support Organisation(s): 


Sickle Cell Disease

Support Organisation(s): 


Silver Russell Syndrome

Support Organisation(s): 


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): 

Brain FoundationRVA PartnerAustralian Organisation


Spinal Muscular Atrophy

Support Organisation(s): 


Spinocerebellar Ataxia

Support Organisation(s): 

Personal Story:Beck’s Story


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


STXBP1 Disorders

Support Organisation(s): 

STXBP1 FoundationRVA PartnerAustralian Organisation


Superficial Siderosis

Support Organisation(s): 


Superior Mesenteric Artery Syndrome (SMAS)

Support Organisation(s): 

Personal Story:Ebony’s Story


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): 

Rare Find FoundationRVA PartnerAustralian Organisation


Telomere Biology Disorders

Support Organisation(s): 

Team TelomereRVA PartnerAustralian Organisation


Telomere Biology Disorders

Support Organisation(s): 


Tourette Syndrome

Support Organisation(s): 


Trichothiodystrophy (TTD)

Support Organisation(s): 


Triple A Syndrome

Support Organisation(s): 

Triple A SyndromeRVA PartnerAustralian Organisation


Trisomy 18

Support Organisation(s): 


Tryptase and Alpha Tryptasemia

Support Organisation(s): 


Tuberous Sclerosis Complex (TSC)

Support Organisation(s): 

Personal Story:Jemima’s Story


Tumor Necrosis Factor (TNF) Associated Periodic Syndrome (TRAPS)

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


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): 

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

Association for Wellbeing of Children in Healthcare (AWCH)

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 Alliance UK

Genetic Support Network Victoria (GSNV) RVA PartnerAustralian Organisation

Invisible Disabilities Australia

LiveBetter Community Services

Liver Foundation
Rare Disease(s): Liver Disease   

Malaysian Rare Disorders Society

Missing School

Muscoskeletal Australia Australian Organisation

NORD (National Organization for Rare Disorders)

Parent to Parent

Queensland Parents for People with a Disasbility (QPPD) Inc Australian Organisation

Rainbow Across Borders

Ranzco Eye Foundation

Rare Diseases UK Alliance

Rare Disorders New Zealand

Retina Australia Australian Organisation

Ronald McDonald House Charities Australia Australian Organisation

Self-Help Organisations United Together (SHOUT)

Senses Australia Australian Organisation

Syndromes Without A Name (SWAN) Australia Australian Organisation
Rare Disease(s): Undiagnosed genetic conditions