In 1855, 22 people out of 15 million in the UK died from Parkinson's Disease, first described in 1817. In 2018, Parkinson's is described as a pandemic, with more than 1 in 500 people with the condition. A shift from rare to everywhere may mobilise awareness, support and research for a condition.  One of the difficulties faced by the rare disease community is getting investment in research for their conditions. 

The Steve Waugh Foundation is an Australian charity set up to help children with a rare disease. The foundation uses the prevalence statistics of orpha.net to determine eligibility for a grant. The Foundation notes:

30% of families consulted between 6 and 20 doctors before getting the right diagnosis
2/3 of children are admitted to hospital at least once a year
Each child averages 9 visits to a specialist per year
Each child averages 24 visits to allied health professionals per year
Each child attends their General Practitioner 10 times per year on average.
 

Concessional Carparking   

Choosing Wisely - questions about tests   

The Myasthenia Gravis conference will be held in Brisbane on August 3rd. Email info@mgaq.org.au or call 1800 802 568 to request a registration form.

RVA is Australia’s peak body for rare disease, advocating for all Australians living with a rare disease. They provide a strong, common voice to advocate for health policy and a healthcare system that works for people living with rare disease. They work with patients, organisations, governments, researchers, clinicians and industry to promote rare disease, diagnosis, access to treatments, data collection, coordinated care, access to services and coordinated research.

RVA are currently contracted to produce the National Rare Disease Framework.  The framework will consist of six strategic priorities: diagnosis, access to treatments, data collection, coordinated care, access to services and coordinated research. On April 28th, RVA is planning a community consultation in Brisbane, so save the date, more info to follow.

Aussie Hands was formed in 2000 by Elizabeth Serpell after giving birth to her son David. David was born missing fingers on his right hand (a condition called symbrachydactyly). Elizabeth felt alone, had mixed emotions and many questions. She tried to connect to others in her situation but found little information and support was available in Australia and so she decided to form Aussie Hands.

Aussie Hands provides support, understanding and encouragement to children with congenital and acquired hand difference and their families. A hand difference can range from the absence of one or all fingers on a hand. Or a person may have a partial arm.

Aussie Hands provides opportunities for networking and exchange of information. By providing a supportive network, we aim to ensure that children with hand differences don't feel alone. We hold regular social gatherings Australia wide including Brisbane which greatly reduces the isolation experienced by the children and enables them to build supportive relationships and self-confidence. During the social gatherings, parents can ask questions, receive support and gain a sense of hope about the future lives of their children.

Aussie Hands facilitates a highly active online support group where parents and adults with hand differences can share stories, support and information. The Aussie Hands website has a range of information and resources. This includes information about prosthetics, gadgets to assist in daily tasks, surgical options and dealing with difficult issues such as the transition to school.

Aussie Hands has been a long-term advocate of research initiatives focussing on congenital hand differences. It was integral in gaining the funding to set up the Australian Hand Difference Register which aims to establish how many children are born with a hand or arm difference in Australia and learn more about possible causes. The information will also help inform future planning for services supporting people with a hand difference and their families. The register is managed by researchers at the Murdoch Children’s Research Institute, at The Royal Children’s Hospital in Melbourne. More information can be found at https://www.mcri.edu.au/ahdr

Aussie Hands staff have lived experience of hand difference. One staff member is an adult with a hand difference and the other a mother of a child with a hand difference. Staff can provide individual support around specific issues. There is an Aussie Hands volunteer Queensland co-ordinator, who is a point of contact and organises events in Brisbane.
 

Most recognised genetic conditions are rare. A few are quite common in some populations. For example, haemochromatosis is found in about 1 in 100 people of European descent, and some conditions affecting the blood are frequent in populations where malaria has also been common. But in general genetic diseases are rare, and the chances of finding someone with the same condition are quite low. That’s where support groups are so important. But it’s also important to find out what is going wrong in these conditions; being rare doesn’t make them insignificant!

Gorlin syndrome is a rare genetic condition where people develop many benign skin cancers (basal cell carcinomas) and cysts in the jaw bone. It affects males and females equally. Around 1 person in 50,000 has Gorlin syndrome, so it’s pretty rare, but there might be 500 people in Australia who have it. Gorlin syndrome is usually caused by an abnormality of a gene called PTCH1 which is found on chromosome 9 in humans.

Among people with Gorlin syndrome there are some who have an even rarer version. In those people there is a small chunk of the DNA from chromosome 9 missing, and that includes the gene that is abnormal in Gorlin syndrome. This is called 9q22.3 microdeletion and less than 50 people world-wide have been diagnosed with it. There is only one case we know of in Australia. People with the microdeletion have other features in addition to Gorlin syndrome. They may be born with hydrocephalus (water on the brain). They may be slow to develop physically and mentally. Often they are tall compared with the rest of the family. And their problems start at a younger age than for people with Gorlin syndrome alone.

There are so many unanswered questions about the effects of the microdeletion and how it relates to Gorlin syndrome, but because it is so rare it has been difficult to study it and come up with an idea of the full range of problems and solutions.

We are now starting to research Gorlin syndrome and 9q22.3 microdeletion. We want to understand why some people have very severe disease, and others are only mildly affected. Maybe this is related to the genetic variants they carry for other genes, which could take over the role of the faulty PTCH1. Perhaps it depends on which parent passed on the faulty PTCH1 gene. It might be due to the nature of the change in PTCH1. If we can find enough people with Gorlin syndrome, and even maybe some with 9q22.3 microdeletion, we hope to answer some of these questions, both to understand how the different problems develop and also to come up with possible treatments, which may be different for different people, depending on just what we find out.

Sometimes understanding a rare disease allows us to understand a more common condition as well. This is certainly true for a number of rare familial cancers, where researching the rare version has pointed out things that are going wrong more generally in that type of cancer. The skin cancers in Gorlin syndrome are made worse by exposure to the sun.  Perhaps by studying Gorlin syndrome we will also find things that are relevant to the development of skin cancer in us all. That, after all, is not rare here in Australia.



[The Australian Gorlin syndrome mutual support website.]
 

If you've ever come back from your holidays, and found yourself in the land of password forgetfulness, it's time to set yourself up for success.