Australia Day Barbie—Brisbane Angelman Syndrome Research Dr Edwin by pengtt


									                                                                       ISSUE 3

                        AP RIL 2010

                     Australia Day Barbie—Brisbane

                        All the Aussie Flags were out in
                        force when we got together for a
AWARENESS               morning barbeque on Australia

BEHAVIOURAL     3       We all had a fantastic morning
WORKSHOP                catching up at the Broadwater
                        Picnic Ground for a sausage
ANGELS                  What more could we ask for -
                        great weather, fantastic park for
                        the kids to have fun, and
MAD AS HELL     4       amazing company with our
                        beautiful angel families.
                        A big thanks to everyone for
                        making it a great day.

                        A special big thanks to Jen for her magnificent organisational skills! Our president Alison, Chefs,
                                                        Mario and Steve, and photographer Michelle.
                                                        With so much fun had by all there will be no doubt more social
                                                        events planned for this year! Watch this space.

                                                                                          Would you like to organise an
                                                                                          opportunity for angel families to
                                                                                          catch up in your area?

                                                                                          Send us the details and will pro-
                                                                                          mote it through our member-

                     Angelman Syndrome Research Dr Edwin Weeber nominated to Hall of fame!
                        This year's Rare Disease Day theme was the importance of collaborations between parent groups
        April           and researchers. We thought this was the perfect opportunity to showcase our own AS researcher,
                        Dr. Edwin Weeber and his colleagues. Their hard work and dedication is well known by Angel
        Alex            families around the world. Accordingly, the Queensland Angelman Association nominated Dr.
        Noah            Weeber to the 2010 Hall of Fame, where he is surrounded by other
       Andrew           respected and dedicated researchers all working to aide individuals
                        with rare diseases and disorders.
                        Congratulations to Dr. Weeber and colleagues - you are well
      Chelsea           deserving of this accolade, and we are thrilled to have the
       Riley            opportunity to publically acknowledge your research.
   ISSUE 3                                                                                               Page 2

Rare Disease Awareness

   You don't need to be told       established by the APSU last    pacts of rare diseases in
   that Angelman Syndrome is       year. A copy of the Draft       Australia through research
   a rare condition, no doubt if   Plan can be found on the
   you had a dollar for every      website:        6. Develop and disseminate
   person you have had to ex-
                                   The objectives of the draft     information to educate pa-
   plain the syndrome to you
   would be a millionaire!         plan are to                     tients, parents, carers and
                                                                   the general public,
   Australia is unlike most de-    1. Raise awareness of the
   veloped countries in that we                                    about rare diseases that is
                                   burden of rare diseases on                                                     Raise
   have no National coordi-
   nated approach to Rare          patients, families, health      relevant in the Australian
   Disease. Alone, as parents      professionals and the com-      context                                  awareness of
   and families of children with   munity
   Angelman Syndrome we                                            7. Develop an umbrella or-               the burden of
   would have a hard time con-     2. Provide educational re-      ganisation to support people             rare diseases
   vincing policymakers that
                                   sources and networking          affected by any rare disease
   this is important, but com-                                                                               on patients,
   bined with families of more     opportunities for health        by linking existing organisa-
   than 8000 rare diseases we      professionals to allow them     tions to facilitate the co-             families, health
   have a lot of clout.                                            ordinated development of
                                   to better identify and man-                                              professionals
   What does this mean for us?     age rare diseases               integrated peer support
   The European Rare Disease                                       networks, contact among                      and the
                                   3. Improve health care for
   body EURORDIS “aims at                                          families and contact among                 community
   improving the quality of life   people with rare diseases
                                                                   rare diseases interest
   of people living with rare      through access to diagnostic
   diseases in Europe through                                      groups.
                                   tests, new drugs and other
   advocacy at the European
   level, support for research     treatments, improved pri-       An Australian body to sup-
   and drug development, net-      mary care and specialised       port Rare Conditions would
   working patient groups, rais-   services                        mean a great deal by way of
   ing awareness and other                                                                              More Rare Coverage
                                                                   support to Angelman Syn-
   actions designed to fight       4. Promote research on rare
   against the impact of rare                                      drome families.                      Mackenzie's family from
                                   diseases through advocacy                                         Newcastle were fantastic in
   diseases on the lives of pa-
   tients and family.”             for targeted research funds     An online petition has been     sharing the story of their jorney
                                   and development of national     set up encouraging people          with AS, and informing the
   The Australian Paediatric                                                                       public of the lack of services or
   Surveillance Unit recently      and international multidisci-   to “Establish a body to sup-     rare diseases in Australia in a
   called for comment on the       plinary research partner-       port Rare conditions in Aus-      February television interview
   DRAFT National Plan for         ships.                          tralia “                                   with NBN.
   Rare Diseases for Australia,                                                             
   drafted by the Rare             5. Increase knowledge of          index.php/2010/02/25/
   Diseases Working Group                                                                                 mackenzies-story/
                                   the epidemiology and im-            online/27998.html

 Rare Disease Day Awareness Walk—Cairns 2010

   The Cross family in Cairns      of different rare conditions    castles and a range of fan-
   had their second annual         represented.                    tastic door prizes.
   awareness walk     in the
   scorching Cairns February       The walk was attended by        Although symptoms      can
                                   the parliamentary secretary     vary immensely there are a
   sun this year.
                                   for Health and covered by       lot of common factors that
   This year the goal was to get   local television stations       come with a rare disorder
   as many people aware of         Chanel seven & Win , ABC        and the day provided an
   the plight of families af-      National and the local news-    excellent opportunity for
   fected by rare conditions       paper.                          networking.
   with feet on the pavement!
                                   Local businesses showed          Footage from the Day can be
   The walk was well repre-        their generosity by donating    found at
   sented again with over 250      everything required for the
   people walking and a range      day from bbq food, drinks,
                                   icypoles, venues, jumping
      ISSUE 3                                                                                            Page 3

Bad behaviour?

      Prof. Chris Oliver from the       with age will be followed by     ber's workshop in 2009. We
      University of Birmingham          a description of the main        hope to be able to expand
      (Neurodevelopmental               causes of behaviours such        upon the day to provide
      Disorders) in the United          as aggression to others.         further information sessions
      Kingdom will be in Brisbane       Methods for assessing            for families, and an opportu-
      in late September where he        causes will be described         nity for angel families to
      will host a workshop for          and a range of intervention      network.
      Angelman Syndrome fami-           techniques will be presented
      lies on;                          with advice on evaluating
                                        how effective different tech-    If you have any queries
      “Understanding and chang-         niques are. Throughout the       about the day please con-
      ing challenging behaviour in      presentation there will be an    tact us
      Angelman syndrome”                emphasis on early interven-
                                        tion, the importance of con-
      This presentation will ex-        sistency across environ-
      plore the more common             ments and linking cause to                                         Save the date!
      forms of challenging behav-       intervention.
      iour in children and adults                                                                                 Sunday
                                        The Mater Hospital has
      with Angelman syndrome.           again been very generous in
      There will be a description of                                                                       September 26
                                        providing a venue for this
      how genetic disorder can          workshop. You may recall
      influence behaviour and           they provided their premises
      information on the forms of       and hospitality for Dr. Wee-
      the behaviours and changes

Calling all Angels!

      Actually…                         production, event planning,      pies and medical chal-
                                        web updates and liaising         lenges. Many families have
      Helping hands                     with families (there is also a   worked so hard and are a
      In July last year we held our     small financial burden in        wealth of information for
      first workshop as a Queen-        hosting our website)             families just starting out on
      sland entity.                                                      this journey. Please share       Like to see your
                                        We really need your help!        your experiences so that you
      The Queensland Angelman           We cant achieve this with        can extend your hand to           angels smile in
      Association is a non incorpo-     only a few people managing       the new families who are
      rated body—we decided we
                                        the workload.                    looking for experience and               our next
      have enough red tape in our                                        advice
      lives! By doing this we are       We are always looking for                                            newsletter?
      not required to have meet-        ideas for the website, con-      If you would like to help—in
      ings, audits or handle fi-        tent for newsletters and we      any way, no matter how              Contact us
      nances, which is great.           always want to know what         large or small please
                                        people are doing that works
      If we are to achieve our                                           contact us!
                                        for them!
      goals in providing a useful
      service there are burdens;        Angelman Syndrome is a
      newsletters—content and           complicated web of thera-

In Sympathy

      The Queensland Angelman           and sudden loss of their         member of the Australian
      Syndrome Association ex-          sister and auntie Renee          Defence Force.
      tends our sympathy to Jess,       Nicholls.
                                                                         Our thoughts are with the
      Ash, Rhys, Riley, Rory and
                                        Renee was a world cham-          family at the difficult time.
      their families after the tragic
                                        pion triathlete and a valued
                                                                                                         Interesting Links
                                                                                                  Loss of enzyme reduces neural
                                                                                                  activity in Angelman syndrome

                                                                                                  One protein appears to control
                                                                                                  neurons’ ability to react to new

                                                                                                  US Drug Company, Ardane pro-
                                                                                                   pose drug for Angelman Syn-

                                                                                                  Angel carries Paralympic Winter
                                                                                                           Games torch

Queensland Angelman Association is an unincorporated group of parents & carers focused on providing support & information to
Queensland families who have been touched by Angelman Syndrome.

Through our experiences we have discovered the comfort in being surrounded by a loving & compassionate Angelman Syndrome
community. For whatever challenges that may be faced during this journey, there will be others to support & provide advice. It is
our goal to open a channel of communication between Queensland families.

We believe that information is power. It is important that our Angelman Syndrome families are provided the most up to date infor-
mation on research, studies & the achievements of our angels around the world.

Mad as Hell

      Mad as Hell is a clever Na-        Introducing and supporting
      tional electoral lobbying          a national disability insur-
      campaign designed to im-           ance scheme immediately
      pact on this years Federal         after the productivity Com-
                                                                                                           Interested in a
      and State Elections.               mission study, due July                                        Natural approach?
      The group is asking families
      and friends of people af-          Ensuring people with a dis-
      fected by Australia's inade-       ability and their family or                                     For those interested in
      quate disability system to         nominated representative                                           exploring natural
      pledge the following;              decide the best ways to use                                  therapies, allied therapies
                                         funding received to meet                                     and nutritional approaches
      “We’re mad as hell -               their individual needs.”                                       to wellness the MINDD
      We are not going to take this      To find out more about the                                    Foundation have a series
      anymore and there are mil-         innovated campaign visit                                      of seminars, including the
      lions of us”                       their website                                                     Gold Coast in June
                                                                        Got an idea for some
      “I pledge that in the next
      Federal and State elections,                                      newsletter content?     
      I will only vote for a political             http://                 CONTACT US                     archives.php/226-
      party which publically prom-            australiansma-
      ises to transform Australia’s       @ email address above
      broken, inefficient, crises-
      driven disability support
      system by:

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