CTDNA Resources
Resources
CTDNA is a young organisation so whilst we are still developing our own base resources, in the interim we would like to direct you to resources that already exist, and have been produced by organisations that we either partner (Rare Voices Australia) or affiliate (The Ehlers-Danlos Society) with, or have been through peer review or published independently.
Ehlers-Danlos Syndrome Resources
Toolkits & Diagnostic Resources
Sydney Local Health District webpage Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
The Sydney Children’s Hospital Network – Connective Tissue Dysplasia (CTD) Clinic; The Children’s Hospital Westmead.
The Sydney Children’s Hospital Factsheet on Joint Hypermobility (Hypermobility can occur across all HCTD).
The Ehlers-Danlos Society provides an extensive range of information about EDS, resources, videos and awareness raising resources. A list of (self-nominating) Australian healthcare professionals can be found here.
The Diagnostic Criteria for hypermobile Ehlers-Danlos Syndrome (hEDS) – Diagnostic Checklist.
Ehlers Danlos UK a support and advocacy organisation based in the United Kingdom. EDS UK developed the following toolkits;
Ehlers-Danlos Syndromes GP Toolkit based upon, “the latest thinking in EDS, including the new approaches to diagnosis and treatment set out by the International Consortium on the Ehlers-Danlos syndromes in 2017″.
Toolkit for schools described as; ‘A free resource for staff to help support pupils with joint hypermobility syndrome (JHS) or the Ehlers-Danlos syndromes (EDS)’.
Download and share a comprehensive list of freely available resources we have put together to assist with HSD/hEDS diagnosis and management Download here –> List Online Resources.
My Bendy Body: A 26-page colour illustrated children’s book about living with hypermobility – great for teachers and carers new to hypermobility.
Key Journals
American Journal of Medical Genetics; Seminars in Medical Genetics. Special Issue: (2017) The Ehlers-Danlos Syndromes: Reports from the International Consortium of the Ehlers-Danlos Syndromes. Vol. 175 No. 1. (Open Access)
Key Australian Articles
Nicholson, L. L., Chan, C., Tofts, L., & Pacey, V. (2022). Hypermobility syndromes in children and adolescents: Assessment, diagnosis and multidisciplinary management. Australian Journal of General Practice, 51(6), 409–414. (Open Access)
Loeys-Dietz Syndrome Resources
There are very few Australian resources on Loeys-Dietz Syndrome, as such you can read more about it here on The Marfan Foundation (USA) website. We hope to be able to provide more information on this rare HDCT soon.
The Loeys-Dietz Syndrome Foundation (USA) provides more in depth reading.
Key Journals
Loeys-Dietz Syndrome. (2008) [Updated 2018]
Marfan Syndrome Resources
The international Marfan Foundation provides a range of resources and information about Marfan Syndrome, including a Parent Toolkit for parents of children with Marfan, Loeys-Dietz, vEDS, and other genetic aortic and vascular conditions.
The Marfan Association Queensland promotes research and awareness of Marfan Syndrome in Queensland and New South Wales.
Stickler Syndrome Resources
Some basic information on Stickler Syndrome and links to some support services can be accessed here, via the Genetic Alliance website.
International Stickler Syndrome information is available via The Marfan Foundation website.
Key Australian Journals
A recent 2024 Australian study (below) exploring the confidence and awareness of allied health professionals in managing Stickler Syndrome, with the aim of identifying knowledge gaps to better target continuing education on Stickler Syndrome.
Britten-Jones AC, Ayton LN, Graydon K, Boyce JO, Braden R, Dawkins R, Cham KM. Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals. Journal of Multidisciplinary Healthcare. 2024;17:1755-1768 (Open Access)
Key Journals
Snead M, Martin H, Bale P, Shenker N, Baguley D, Alexander P, McNinch A, & Poulson A. Therapeutic and diagnostic advances in Stickler Syndrome. Therapeutic Advances in Rare Diseases. 2020;1:1-13 (Open Access)
Care options across australia
Private Practice
The Ehlers-Danlos Society endorses private practices across Austraila which meet Society determined pre-requisites regarding the standard of care, and the types of clinican support available as well as the frameworks employed i.e: clinics must adhere to the use of the 2017 hEDS Diagnostic Criteria.
These endorsed clinics are titled; CORE Networks of Excellence. CORE standing for; Care, Outreach, Research, and Education.
A listing of clinics who have met the standards identified can be viewed here by navigating to the Australia button.
PUBLIC HOSPITAL CLINICS
Public hospital CTD and outpatient genetic clinics who accept referrals for Marfan Syndrome, Loeys-Dietz syndrome and other rare inherited and / or genetically identifiable HCTD in Australia are:
Queensland
Prince Charles Hospital Adult Congenital Heart Disease and Marfan Syndrome Clinic.
New South Wales
Royal North Shore Hospital Department of Clinical Genetics.
Royal Prince Alfred Hospital Sydney Heart Centre Marfans Clinic. Also information via the Royal Prince Alfred Hospital Clinical Genetic Service.
Information on referrals Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders from Royal Prince Alfred Hospital Sydney Clinical Genetics Department.
The Sydney Childrens Hospital Network – Westmead connective tissue dysplasia (CTD) genetic clinic provides diagnostic advice for connective tissue disorders such as Marfan syndrome and Ehlers-Danlos syndrome subtypes able to be confirmed by genomic testing.
Victoria
The Alfred Health Marfan Syndrome & Inherited Aortopathy Clinic.
Organisations Supporting HCTD Co-morbid Conditions
The Australian POTs Foundation is a patient advocacy organisation who are working to build a brighter future for Australians living with Postural Orthostatic Tachycardia syndrome (POTs), through advocacy, support and research.
Emerge Australia is a patient advocacy organisation working to support Australians impacted by Myalgic Encephalomyelitis / chronic fatigue syndrome (ME/CFS) and LongCOVID.
The Australasian Mastocytosis Society (TAMS) provides advocacy, education, research and support for mast cell disorder patients, physicians, families and caregivers.
Chronic Pain Australia provides a uniform voice for the 3.6 million Australians living with chronic pain. CPA is a non-profit, non-government, founded in 2011. The organisation vounteer run and committed to advocating for those impacted by chonic pain. Having recently launced Kids in Pain Week and undertaking the National Pain Survey annually the organisation is going from strength to strength. The 2024 National Pain Survey found Chronic Pain in those with Connective Tissue Disorders to be significant.
Rare Disease Resources
Rare Voices Australia (RVA) the national peak body representing rare diseases, and people with rare diseases in Australia.
In 2024 RVA launched as part of The Navigator Project, The Rare Helpline, staffed by trained RVA personnel. The Rare Helpline is a place where individuals living with or caring for someone with rare disease can access information and have key questions answered. Check out the State and National links to services and information.
A Rare Disease A-Z listing compiled by RVA in conjunction with relevant Patient Advocacy Organisations is available at The Rare Awareness Rare Education (RARE) Portal. The portal contains current, reliable and straightforward information and resources for disease and conditions within an Australian context. Access The Rare Portal here.
The National Strategic Action Plan for Rare Diseases (2020).
The National Recommendations for Rare Disease Health Care (2024).
Specialised Rare Disease Services
The Rare Care Centre Perth Childrens Hospital linked here.
Rare Diseases NSW – Randwick Health and Innovation Precint linked here.
The Sydney Childrens Hospital Network operate the Rare Kids Nurse Navigation Program for select priority groups. See more information here.
