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.

1379505_721942081164824_1644304063_n

Tayla the Trailblazer

Gauging by her body language I think I knew what the Oncologist was about to say to us regarding Tayla’s recent PET scan results. AS we sat in her office I could see she was perplexed “Well something is going on here Tayla, something is not right!” she said.  As she spoke about the recent scan, she mentioned there was uptake to another lesion, she said it wasn’t very large but of concern. There was empathy and I think she felt as dejected as we did.

Tayla broke into tears, I really felt for her…and felt helpless. My husband and I both wish it were us going through this, not her! But we will love and support her through it, show our anxiety, our concern and just worry like hell as parents.

Despite the news Tayla decided to call this infiltrator ‘Fred’, it has a name now. Our daughter has shown so much courage, and has such an incredible outlook on life, despite her condition. Her energy levels are always so high, she bounds around the house, occasionally throwing in a highland fling.

As her oncologist said to us, “It is unfortunate Tayla but this is how life will be.” We now await comfirmation regarding the treatment option; chemotherapy, radionuclide therapy and surgery have been mentioned, most likely to be the later.

*Tayla has a rare genetic mutation called SDHB which means she is susceptible to developing a type of rare tumour called a Paraganglioma. So far three tumours in total have been surgically removed within a period of nine months. These tumours are usually found in the abdomen, head or neck regions.

535496_568838589802676_1373024303_n (2)