Australia is a part of world where extensive research regarding Huntington’s Disease has been done on a variety of different subtopics. Researchers have been able to draw conclusions about reproduction, age of onset, and the origins of the disease. They have also come to realize that prevalence varies throughout the continent, reaching as high as 12.1 individuals per every 100,000 in some areas. In an attempt to support individuals affected by HD, Australia appears to have developed a large and supportive HD community spread throughout the continent. In fact, the 2011 World Congress on Huntington’s Disease was hosted in Melbourne, Australia.
This section of Global HD aims to highlight regions within Australia in which the HD populations have been studied, and where history and significance within the HD context have been demonstrated.
Tasmania, an island state located 150 miles off the southern coast of Australia, is the region within the Australian Commonwealth that has been shown to have the highest prevalence of HD, with 12.1 cases per 100,000 people. This is a unique and somewhat surprising finding considering that, in most Western countries, it is predicted that the prevalence of HD is 5 to 7 cases per 100,000 individuals, which is a statistic that is more on par with the rest of the Australian continent. The unusually high prevalence that has been noted in Tasmania has prompted researchers to conduct a variety of studies regarding the region’s HD population, making it a well-studied and important area in the context of global HD.
In 1949, Dr. Charles Brothers came across a large Tasmanian family that was presenting symptoms of HD. This family has continued to be studied over the years, but for medical confidentiality purposes, they are known in research literature only as “the Brothers family.”
It is believed that HD was first brought to Tasmania in 1842 by an English woman identified as “Mary.” Mary was born in Long Sutton, Somerset, England in 1806, and appears to have inherited the disease from her father, “Robert,” who was born in 1776 in Somerset. Researchers have named “Robert” the originator of HD in Tasmania, and he is considered to be the first generation of the Brothers family.
Mary married several times before leaving England for Launceston, Tasmania with her husband, “Charles,” and her seven children in 1842. Mary proceeded to give birth to seven more children in Tasmania. Of her 14 children, nine developed HD. All nine children later went on to have children of their own. As of 1990, seven of these nine lineages still had living descendants, with six branches containing descendants that were either at risk or affected by HD.
Nine generations of the Brothers family have been studied, and more than a century after Mary’s death, there have been 765 identified family members living at risk. The average age of onset for affected Brothers family members was found to be 48.6 years old, and the average age of death was 61.8 years. Fertility studies showed that there was no evidence that suggests that the ability to reproduce was negatively impacted in any of the affected individuals. In fact, the disease appeared to correlate with greater fertility amongst Brothers family members, while led to past (and now out-dated) medical recommendations that at risk individuals be sterilized once they had achieved their desired family size.
Studying the Brothers family lineage provided researchers with a better understanding of HD and helped explain the higher than expected prevalence of HD in Tasmania by allowing them to trace the disease back to a single common ancestor.
The fact that Tasmanians with HD can be traced back to a common ancestor appears to explain the higher than expected prevalence of HD in Tasmania.
Resources in Tasmania^
Huntington’s Disease Association within the Tasmanian Department of Health and Human Services
The Huntington’s Disease Association provides support for Tasmanians affected by HD. The Association supports Tasmanian people of any age, including those living with HD, families of those affected, caregivers, and anyone at-risk of developing HD. The association can provide financial and moral support, special equipment, food supplements, information booklets, and introductions to others affected by HD.
For more information regarding the association, please visit: dhhs.tas.gov/au/service_information/service_files/huntingtons_disease_association
Australian Huntington’s Disease Association Tasmania Inc.
The Association was established to develop educational programs and provide support for Tasmanians affected by HD. It aims to assist families with coping with and understanding the disease, all while helping these families develop a strong unified voice.
For more information regarding the association, please visit: huntingtonsaustralia.asn.au
R. Reddy 2014