• A rare chance to make a difference. I need you. Get involved!

  • There are over one hundred million people living with a rare disease around the world. Take down borders, for rare disorders. Show your solidarity today.

  • Did you know that 1 in 10 Australians will be affected with a rare disease in their lifetime? This means that 400,000 children and their families are affected by a rare disease right now.

  • On this day it is really important to give a voice to a ‘rare’ group who need to be heard and deserve the support & services other Australian’s take for granted.

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Welcome to Rare Disease Day Australia 2013

World Rare Disease Day raises awareness about rare diseases and the impacts they have on those affected personally and their families.

This year’s focus “Rare disorders without borders” marks the 6th annual World Rare Disease Day on the 28th February 2013.

For only the third time in Australia major organisations supporting rare diseases are coming together to highlight the issues surrounding people, especially children, living with rare diseases.

The Australian Rare Disease Day website provides a platform for those affected by rare disease to communicate and their experiences as well as raising awareness in the general public.

Support us by liking our Facebook page, sharing your stories and becoming part of our online community.

Rare Disease Day Australia Video

If you like our Community Service Announcement watch the extended version here.

Look out for the following key promotions:

  • Community Service Announcement on TV the Week of February 25th – Featuring Aiden, Renee, Tom, Tracy, Lisa Forrest, Steve Waugh, Georgie Parker and Joh Bailey, to air on major TV stations across Australia; Ch 9, 7, 10, PRIME, WIN, Southern Cross Austereo.
  • Ch 9 TODAY Weather crosses on Thursday February 28th – Steve Waugh and families on the day
  • Ch 7 SUNDAY March 3rd a 2 part feature on the same night; Steve and Lynette Waugh and Grant Recipients Renee Eliades and Liam Titterton
  • Various Regional TV and radio news broadcasts across 40 major National media networks all receiving a pre-packaged newsroom edited Video and Audio News Release featuring interviews with Steve Waugh; Professor John Christodoulou, rare disease expert, the Children’s Hospital, Westmead; Associate Professor Yvonne Zurynski, Australian Paediatric Surveillance Unit (APSU); and Sharen and Chris Farrell, parents of two boys living with Arts Syndrome.

…and other TV, Radio and Print media stories in progress…

RDD13-CSA-team

Community Service Announcement Talent Team
(L-R) Thank you to Lisa Forrest, Tom, Joh Bailey, Aiden, Steve Waugh, Renee and Tracy

 

 

 

 

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Rare Disorders Without Borders Official Video

When it comes to rare diseases, it’s a small world after all! This amazing official Rare Disease Day 2013 video takes the viewer on a magical journey to demonstrate the urgent need for global cooperation in the field of rare diseases.

The video draws its inspiration from the RDD slogan for 2013,”Rare Disorders without Borders”. Lets work together as an international community to find solutions for individuals and their families who are frequently isolated by their rare disease.

It is not just those that suffer directly from rare diseases that feel alone, often health professionals, researches, policy makes and other members of the community feel that they need support to fight the battle against rare diseases.

Mixing stop motion animation with live action, the very talented video director Carlo S. Hintermann has produced a thought evoking, poignant video for us all to enjoy and to help continue the Rare Disease discourse.

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Sophia’s Story

On March 2, 2013   /   Rare Disease Day Australia   /   6 Comments
Sophia’s Story

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Sophia will be 5 years old in May and she has 2 rare diseases. At this stage the experts feel there is no connection between the 2, and as far as we know, she is the only child world wide living with both conditions. Treating one can complicate the other, so we are in a unique position, with more questions than answers in regards to her treatment.

Sophia was born a 33 week prem in 2008 with VACTERL Association, including Oesophageal atresia, Tracheo Oesophageal fistula and 2 holes in her heart (ASD & PDA). She weighed just 1.8kg and was 18 hours old at her first surgery. She has spent all of her life struggling to breathe due to tracheomalacia, struggling to swallow due to oesophageal dysmotility and struggling to go to the toilet due to severe bowel dysmotility. She has Gastro oesophageal reflux disease which will mean a life time of medication and regular endoscopies to monitor cell changes in her oesophagus. At nearly 5 years of age she still can’t manage to eat a Vegemite sandwich. In fact she will probably never be able to eat bread, or meat, without choking. Her diet is mainly fruit and veg purees, yoghurt and pediasure, a complete nutrition formula.

In June 2011, after her 9th surgical procedure related to her VACTERL, we noticed for the first time how regular her fevers were. It was a difficult time, as her latest procedure, a tonsillectomy and adenoidectomy, was meant to be the magical fix to most of our problems in regards to her choking, breathing and sleep apnea. Finally after years of health problems we looked forward to a relatively normal life. Instead we were thrown into more medical investigations as our little girl continued to get sick every 20-24 days on average. Her fever episodes lasted 4 days and she had no other symptoms besides headache and high fever. Her cycle was so regular we could predict a fever to within a few days! We spent 6 months getting anyone to even believe us, over a year before we got a referral to an immunologist. As each fever went by we noticed more symptoms. Joint pain, tummy pain, nose bleeds, and rash, to name a few. 1 year and 8 months later we still have no answers apart from an ‘unknown’ Periodic Fever Syndrome, which is auto inflammatory in nature.

We are currently awaiting an appointment with a clinical geneticist for further testing.

Thank you

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Guest Blog: Nikki’s Story.

On February 27, 2013   /   Rare Disease Day Australia   /   2 Comments

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Hey Everyone.

Today I want to tell you a little bit about myself and my condition called EB.

My name is Nikki and I’m a typical 26 yr old girl living in Sydney, Australia. The one thing that is not so typical is that I was born with a rare genetic skin disorder called Epidermolysis Bullosa or EB for short.

The Worst Disease You’ve Never Heard Of

EB is often referred to as “The Worst Disease You’ve Never Heard Of”. It causes my skin to blister and tear with the very slightest touch. When I say blister, I do not mean the tiny blisters you might get on your foot every now and then. EB blisters are very different, they fill with fluid and if not lanced with a needle can grow up to the size of well, it could cover an entire limb if not lanced! After they are lanced the skin tears off and a large open wound is left. 90% of my body is covered in large open wounds similar to 2nd degree burns, the only difference being that these wounds never go away. Because of this I am wrapped in bandages from head to toe every day of my life.

Open wounds similar to 3rd degree burns cover the whole body

My bandages must be changed every second day in a bath which can take over 2 hours. First I get in the bath and soak all the bandages off which is a very painful and stressful process. Everyone knows what it’s like when you have a sore or a cut and you get water on it. It hurts right? Well now imagine that feeling on your entire body….not with a little cut or scratch, but open wounds that have no skin at all. I cannot dry with a towel because just the towel itself could cause more damage so i air dry infront of a heater. Then my mum applies new bandages which takes at least an hour and a half. I HATE bath days (all EB kids do). It is the most stressful time of day. I have done this process everyday of my life with NO painkillers. Not even Panadol! So I find it strange how people immediately take a painkiller for minor injuries.

Underneath The Bandages

Warning: These pictures are very graphic and may be distressing to some readers but I think it is important to raise awareness of EB and what it is REALLY like.

Click here to see clinical photos of what EB looks like underneath the bandages.

More clinical photos of what EB looks like underneath the bandages.

EB also affects the inside of the body aswell. I get lots of blisters in my mouth which are annoying and can make it hurt to eat. Sometimes just eating causes blisters. Some EB kids get blisters in their throats and even their eyes causing their eyes to be fused closed and they have to sit in pain darkness for a week until they heal. Luckily I haven’t had this…yet.

You have probably seen from my photos that despite me being 26 I am TINY, about the size of a 10yr old. Nutrition is a complicated thing with EB. We use so much energy repairing skin and fighting infection that there is barely anything left to help us grow. It is also nearly impossible to eat enough calories to meet our needs. To help me get enough nutrition I have a high calorie milk supplement that goes into my stomach via a Nasogastric Tube in my nose while I sleep.

My hands

EB also causes the fingers to fuse together and web into mittens. Surgeries can be done to separate the fingers but unfortunately they don’t last long. My right hand is pretty bad but I still have some fingers on my left. The skin behind my knees has contracted which means I cannot straighten my legs and it is painful to walk. When I go out I use a wheelchair, a pink one of course! I also have an electric wheelchair that gives me a little bit of independence but it is still so hard because so many places are not wheelchair accessible. Grrrr!

The big problem with EB is that as we get older (by old I mean 20′s) we have a very increased risk of getting Squamous Cell Carcinoma’s (SCC), a deadly form of skin cancer. If not caught early it can spread very aggressively. Because of this I attend regular EB clinics every 3 months where I have a skin check. I take all my clothes and bandages off and about a million drs look at me and take photos of me in the nude….FUN! This is to look for anything suspicious that could be an SCC. I also see every other team u could think of, Renal, Gastro, Endocrine, Dietician etc etc. Sometimes I have to have blood transfusions through loss of blood. Even though I hate EB clinics, I have amazing Drs and the Dermatology dept are like a 2nd family. There are not many of us EB kids so we are all very close.

It’s very hard living with EB, nothing is easy. But I just have keep pushing on. I have good days and bad days and I just have to make sure there are more good days than bad. Appreciate the little things in life and don’t take life for granted.

That is just a little about EB to start you off and to answer some of your questions. Feel free to ask me anything you like! I won’t be offended :) If you would like to help find a cure or treatment for EB please go to http://debra.org.au and donate!

Thankyou!

Read more of Nikki’s inspiring, insightful blog over at: NikkaBlogger. 

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