World Rare Diseases Day 2012 - the little lioness

World Rare Diseases Day 2012

Today, the rare day of Feb 29, is World Rare Diseases day.

What IS a rare disease???

  • A rare disease in Australia is defined as one which affects 1 in 10,000 people or less.
  • There are up to 8000 known rare diseases, the majority have a genetic origin.
  • Although each disease is rare, collectively they affect up to 10% of the population.
  • That is up to 2 million Australians of which up to 400,000 children.
  • Rare diseases can be life-threatening or chronically debilitating.
  • Most begin in childhood and continue throughout life.
  • Obtaining a definitive diagnosis is often difficult and delayed, if diagnosed at all.
  • Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to a loss of independence and opportunities.
  • Many rare diseases have no cure

In Australia, the Steve Waugh Foundation is dedicated to supporting those with rare diseases and their families, as these kids with ‘orphan’ diseases often don’t fall under established support and funding services.

Liam's 2nd Birthday Party

Dear little nephew Liam is one of the kids who falls under the umbrella of rare conditions, with his Spondyloepimetaphyseal dysplasia. With something the local therapists have never seen, and the specialists only come across rarely, it can be hard to get answers and to know if you’re on the right track with monitoring of development.

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6 comments for “World Rare Diseases Day 2012

  1. February 29, 2012 at 8:03 am

    Hopefully e-Health and greater access to telemedicine across the nation and the globe will improve access to children and their parents to better specialist care.

  2. February 29, 2012 at 8:53 am

    Bring on the NBN.

  3. Jennie
    February 29, 2012 at 2:31 pm

    :)

    It is incredibly frustrating. Even when we were at Westmead, they seemed very guarded about what they were telling us. I get that they don’t want to misinform us about his condition, but they didn’t seem too keen to tell us much of anything. And not in a ‘because they don’t know anything’ way, but in a ‘we know things but aren’t going to tell you’ way.
    Next time you should come with, because it is very overwhelming, and as both his Aunty and a health professional, you probably would be less emotional and feel more comfortable asking questions than the rest of us (me, JD & Grandma). Very much felt like an uneducated country bumpkin when surrounded by a bunch of specialists.

    • Jennie
      February 29, 2012 at 2:33 pm

      And Yes, before you say it, I know I *am* an uneducated country bumpkin.

    • March 5, 2012 at 9:40 am

      I’m happy to come along next time :) And I can help with those probing questions about prognosis which I think is the really big stuff, ie timeframes on potential surgery, possible complcations, blah blah.

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