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)’.
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)
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.
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).
