One In a Million

Back in October last year we were approached by Rare Voices Australia to be interviewed for The Advertiser here in Adelaide. Journalist Elisa Black came to our home and spoke to Tayla and myself about what is it like to be diagnosed and live with a rare disease. Tayla spoke candidly about what the last two years have been like, and gave the journalist an insight into life with a rare disease and rare genetic disorder. Statistics are approximately 1 in 1 million of the general population worldwide.

We have been told alone in Australia only a few children have been diagnosed with the same tumour and genetic disorder…I wish we had some more accurate statistics! Following our interview a photographer also from The Advertiser visited us a few days later and took some photos to run with the story.

Finally on Saturday (25th January)  in SA Weekend we and three other families had a chance to tell the general public about life and living with a rare disease. Let’s hope that the researchers, the health system, the public and the politicians can understand how under resourced and under funded rare diseases are.

We need to be better advocates for ourselves and educate and create awareness about these particular diseases, or else we face the very real consequence where our children as well as adults will die without life-saving treatment.

“Rare Voices Australia was formed in early 2012 as Australia’s National Rare Disease Alliance to promote health policy and a healthcare system that works for those with rare diseases. It is pushing for a National Rare Disease Plan, to provide clear national guidance on rare disease management and research, a coordinated response that can be delivered within existing resources, while helping promote research and diagnosis, treatment and care”.

“There are more than 7000 rare diseases and many have no formal title and are difficult to diagnose. People living with rare diseases can go years searching for an explanation for their symptoms. They begin to feel like hypochondriacs, that it is all in their head.”

Our story features below:

http://www.adelaidenow.com.au/lifestyle/against-the-odds/story-fnizi7vf-1226809636167?sv=9025cfa016eea741fbc7e51f74c485dc#.UuMXmMkDVJA.facebook

On the 21st and 22nd February in support of One In A Million – Australia’s Rare Disease Alliance www.gothetorrens.com.au will officially launch in Adelaide. Walk, jog or sprint the River Torrens Running Loop (4.2 km) in support of three charities FARA  The Unicorn Foundation and Captain Courageous Foundation.

Triple M will broadcast the event in the morning and ambassadors Richard Douglas from the Adelaide Crows and Angus Monfries from Port Power will be attending.

http://www.weekendnotes.com/go-the-torrens-sprint-jog-or-walk-fundraiser/

Rare Disease Day is 28th February and more on the events going on around the country can be found here:

https://www.facebook.com/RareDiseaseDayAustralia?fref=ts

Rare Voices Australia

http://www.rarevoices.org.au/

The Unicorn Foundation

http://www.unicornfoundation.org.au

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The Human Spirit

Recently I was drawn to two articles in the media and in particular the first which featured on ABC Australian Story this month ‘Cracking The Code’: http://www.abc.net.au/austory/specials/crackingthecode/default.htm.

Stephen and Sally Damiani’s first born baby son Massimo had a type of Leukodystrophy, the only problem was this was an uncategorised form, and most cases are genetic. This lead the father Stephen on a pain-staking long journey to delve further into human genomes, and to map his genome and his wife’s. With the help of a Genetic Scientist here in Australia, after four very long years this lead to a most remarkable discovery.

This story is a case of a father’s undying love for his son, his wife and his quest to find answers, a diagnosis and potential treatment for his son and other children. An amazing breakthrough which may just change how people are treated for many other types of diseases in the future.

For more information go to Mission Massimo Foundation

http://www.missionmassimo.com/

Australian Leukodystrophy Support Group Melbourne

http://alds.org.au

‘4 in 3’ The Mason Minniss Fund

https://www.facebook.com/4in3theMasonMinnissFund

The next story hits home in a big way, especially when it is a disease that claimed your child’s life!

Evander was just one day old when he was diagnosed with Neuroblastoma. Six months of Chemotherapy shrank the tumour, but there was damage to his spinal cord, now Evander is likely to be a paraplegic. His family have set up a fund to allow donations to continue to provide equipment and therapies for Evander and other children. His family are continuing other forms of intensive physiotherapy like ‘Locomotor Training’ as Evander also has a spinal cord injury but does not qualify for the government’s ‘Better Start Initiative.’

http://www.evanderconroyfoundation.org.au/

Both of these families highlight my catch phrase which is ‘ordinary people doing extraordinary things’. They have pushed the boundaries with their hope, spirit, courage and persistence as they continue their journeys to find better outcomes for their children.

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Inspiring families

There have been some amazing families that I have met recently. For most bereaved parents re-living the past is still quite traumatic and still holds mixed emotions, but to then throw themselves into fundraising ventures for charities etc, I do find extraordinary.

One particluar family that I met about 12 months ago, set up their own fund in 2011 called ‘4in3’ the Mason Minniss Fund in memory of their late son Mason, who had MLD. The fund raises money exclusively for the WCH Foundation which is the official fundraising charity for the WCH hospital. The proceeds directly aid the Paediatric Palliative care Unit, here in Adelaide. To date they have raised in excess of $60,000.00.

The ‘4in3’ the Mason Minniss Fund holds a major fundraiser each year “A ladies night amongst the butterflies” where goods and services are donated by businesses, organisations, and anyone wishing to be involved, and then auctioned off.

It also holds other fundraisers throughout the year. Over Christmas it also delivered hampers to bereaved families of the WCH, donations were made by businesses and kind-hearted individuals.
This bereaved family like so many before it have turned a life-changing experience into a positive one!

For more information you can contact Cheryl or Rob Minniss by email: masonminnissfund@gmail.com

www.facebook.com/4in3themasonminissfund

www.twitter.com/cherminni

For more information on MLD:

http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy

https://www.facebook.com/#!/supportALDS

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The Beginning

Well, finally I have started my own blog, for a number of reasons.

  • To write about my journey as a bereaved mother.
  • To create awareness about many rare diseases,of which my daughter has been recently diagnosed with.
  • To provide information and resources on some amazing bereaved families.
  • To also share stories about other incredibly gifted people I have been privileged to know.
  • To also shamelessly plug a new book I am writing.