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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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.

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Para…what?

Reflecting back on 2012 it was amazing that we made it through truthfully.

As I started writing this blog some weeks ago we were dealing with another issue at hand, and have been for the most part of the year.

In March our eldest daughter Tayla, who was just 12 at the time, was diagnosed with a rare neuroendocrine tumour called a Paraganglioma, a Para what I hear you say…exactly!

This is something we were never, ever expecting or would have ever dreamed of going through, again. But here we were dealing with a rare tumour that rarely appears in children, for the most part it is an adult’s disease.

Tayla experienced vague symptoms for some months prior, but they never really appeared to be affecting her ability to function normally. She still woke in the morning, and went off to school quite happily. These vague symptoms included; heart palpitations, anxiety, frequent urination, night sweats and dizzy spells.

It wasn’t until one morning she flopped on the sofa and complained she wasn’t feeling well, she did look pale, and her face was quite withdrawn. She also mentioned a lump in her tummy which immediately got me worried, she showed me where this lump was and I really thought possibly it was nothing, but worth a trip to the GP.

The GP examined Tayla and mentioned a possible “hernia”, but requested an ultrasound for further investigation, and this was performed that afternoon.

This lead to more scans and tests, which took a period of 3-4 days. Eventually it was apparent that she needed to be referred onto the WCH in Adelaide.

From there, Tayla was admitted that night and a biopsy to be performed the very next day. Ironically the surgeon that would perform the procedure,was the husband of the Oncologist that gave us the news some 14 years ago, that Luke’s illness was terminal. Another nurse we knew from the oncology department where Luke was treated was also now the Nursing Services Director for the Paediatric Emergency Department. She greeted us with a warm hello and hug…I don’t think we really believed this was happening.

Approximately 97% of these tumours are benign, only 3% are cancerous and these tumours are indolent or slow-growing. Tayla’s operation was carried out in April of this year, and we now find eight months on, that there are two more tumours also in her abdomen to be removed in January.

What are Paraganglioma’s

Paragangliomas are rare tumors that grow in cells of the peripheral nervous system (i.e. the nerves outside the brain and spinal cord). The peripheral nervous system can be divided into the sympathetic and parasympathetic nervous systems.These sympathetic paraganglioma may make too much adrenaline (parasympathetic paraganglioma do not). Adrenaline is a hormone that affects such bodily functions as heart rate, blood pressure, breathing, digestion, sweating, urination, and sexual arousal. Adrenaline is said to control the “fight or flight” response, or in other words, it gets your body ready to react to stressful situations.

Paragangliomas can be found in the skull region, neck, chest cavity, abdomen, pelvis, and bladder. Far and away, the most common site is within the abdomen where approximately 85-90% are located.
unicorn foundation

*Tayla persisted with these symptoms of feeling not quite right, for some time. I suppose now I wish we had listened to her earlier. Detecting the tumour herself was quite incredible reflecting back, and has probably lead to a favourable outcome going forward!