It is well known that Cystinosis is a rare condition, and with only 30 diagnosed individuals across the whole of Australia and New Zealand, it can be even harder to cope with in these vast countries than in other places. Hence, following a visit to the Paris 2002 Cystinosis conference, Susan Scott and her daughter, Serena, decided to start an Australian Cystinosis support group. Sue was inspired by those she met at the Paris conference, and ever since she has been active in promoting the support group and Cystinosis. "It brought tears to my eyes just listening to how many doctors out there are taking an interest in such a rare disease as ours. We so much enjoyed meeting everyone".
Much of the work performed by the support group has been paid for by Sue herself, as she travelled back and forth across the country meeting up with families affected by Cystinosis. And it has been hard to raise money, given how busy Sue has been just trying to meet up with people and organise the support group. Sue tells us: "I have flown a few times to meet families in different states of Australia but this is costly so I can’t do that as much as I would like. It would be wonderful if I could hop on a plane and go meet each newly diagnosed family. The best I can do is telephone calls and e-mails and get the families in touch with others in their state.". However, the hard work has been paying off and lately things have started to happen on a bigger scale.
Just recently a $5,700 grant was obtained through an advert in a local paper and, in September of this year, the first Australian Cystinosis conference is due to be held! Furthermore, the support group is currently in the process of applying to become a deductible gift recipient charity, which means that supporters can claim back tax on their donations – this is a scheme not so disimiliar to Gift Aid within the UK. Naturally, the Australian Government are very strict on who
can apply for this status, so the process is expected to be long and hard to complete.
And in August of this year, the International Federation of Human Genetics Societies will be holding their 11th International Congress of Human Genetics in the Brisbane Convention & Exhibition Centre. This event, held every 5 years, is considered to be one of the premier genetic conferences in the world and is usually attended by approximately 3,000 delegates. Sue, Serena and Debbie, the mother of a Cystinotic in Australia, are organising a booth at this conference to help promote awareness of Cystinosis. They are also receiving the help of Jean Hotz, of the Cystinosis Foundation USA, and the Foundation in Ireland so this booth is now well underway. There are also discussions taking place concerning a CD dealing with diagnosis and funding available for research.
In addition, the Australian support group is hoping to send representatives to this year’s Cystinosis conference in the Netherlands and have been raising funds in order to send some of the support group and a doctor to the event. They are currently trying to raise further funds in order to have parts of the conference recorded and made available on CD (or other format) in the future. Closer to home, there have been many events to raise money for individuals suffering from Cystinosis, such as a charity ball in Victoria.
It’s fantastic to hear how progress is being made in other countries and the efforts that individuals, such as Sue and Serena, have made to assist not only with the medical research aspects of Cystinosis, but also with the day-to-day trials of coping with the condition. All of us in the UK wish them well and look forward to hearing how they get on in the upcoming conferences and other activities!