The John Ritter Foundation has joined with former professional cricket player and aortic dissection survivor Chris Cairns and his wife Mel to create resources and awareness, as well as advocate for aortic disease patients and families in Australia and New Zealand.
More news to come!
Hetty Donovan – New Zealand
“Are you sure?” – words I will never forget from the night I experienced a type A aortic dissection and aneurysm. It was the moment I realised how serious the situation was.
Finding a local aortic disease expert
- Finding and aortic specialist can be hard.
- The Marfan and Aortic Disease Clinic at Royal Prince Alfred Hospital Sydney provides services.
- Similar clinic services have been / are being established in other states and territories. There is an increasing number of clinicians in NZ and Australia who are familiar with the genetic aortic diseases, who can help patients.
- Plans are underway for a national approach to coordinate services and follow up and to expand availability to patients and families
- The availability of genetics services will vary throughout Australian States and Territories. The best way to obtain a referral to genetic counselling services is from a family doctor, a medical specialist or other health care professional. Read more about what genetic counselling is, the process, and benefits, here.
- Links to public and private genetic clinics across Australasia can be found here. They are divided by state and some of the private clinics will provide services nationally or internationally. This list is updated regularly.
Every day 6 Australians suffer from a thoracic aortic disease event such has dissection or need for major surgery. Every day an Australian will die from thoracic aortic disease . 1 in 5 sufferers are aged under 50 years and even individuals in their teenage years and twenties are affected.
Genetic Alliance Australia (GA) endeavours to facilitate contact between families/individuals affected by the same, or similar condition, and/or provide information about relevant support groups both nationally and internationally. GA also deals with enquiries about services and facilitates ongoing support for individuals, families, health professionals and other interested groups. GA has an extensive rare disease database representing 1400 conditions and over 3500 individuals and families affected by genetic conditions.
Rare Voices Australia (RVA) is the national peak body for Australians living with a rare disease. RVA provides a strong, unified voice to advocate for policy as well as health, disability and other systems that work for people living with a rare disease.
In Australia genetic information, which includes your personal medical history and results of genetic tests and information about the health of your parents, children, brothers and sisters can have implications for life insurance policies. Read more here.
The Human Genetics Society of Australasia was formed in 1977 to provide a forum for the various disciplines represented under the title of Human Genetics.
New Zealand Resources
RDNZ is the respected voice of rare disorders in New Zealand, and is the only national organisation supporting all New Zealanders who live with a rare condition, and the people who care for them.
Heart Foundation NZ connects with communities across the country providing much needed support, care and advice to people and their families affected by heart disease. They also fund leading-edge research and specialist cardiologist training.
Heart Kids NZ provides lifelong, vital services at no cost to ensure all those impacted will feel supported, informed, educated, and connected. They support patients from diagnosis, through childhood, the teenage years and into adulthood.
The John Ritter Research Program in Aortic and Vascular Diseases and the Montalcino Aortic Consortium are both open to participants in all countries.
John Ritter Research Program in Aortic and Vascular Diseases (JRRP)
The focus of JRRP is to discover more genes that cause thoracic aortic aneurysm or dissection, understand the genetic and environmental risk factors for developing thoracic aortic disease, and collect data on other symptoms associated with thoracic aortic disease.
Principal Investigator: Dr. Dianna Milewicz
Study contact: JRRP.firstname.lastname@example.org
Who may be eligible: Individuals who have had a thoracic aortic dissection, individuals with a thoracic aortic aneurysm who have another close family member with a thoracic aortic aneurysm or dissection. Individuals with dissection who are deceased may still be eligible if a DNA sample is available and the next of kin consents.
Montalcino Aortic Consortium (MAC)
MAC is an international registry of individuals who harbor pathogenic (disease-causing) variants in hereditary thoracic aortic disease (HTAD) genes. The registry is formed to collect data based on an individual’s underlying gene to improve medical management of aortic and vascular disease.
Principal Investigator: Dr. Dianna Milewicz
Study contact: MAC@uth.tmc.edu
Study website: https://www.montalcinoaorticconsortium.org
Who may be eligible: Individuals with variants in ACTA2, MYH11, MYLK, PRGK1, LOX, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or COL3A1