Why our daughter’s 18th birthday is more than just a celebration

As our eldest daughter approaches her 18th birthday, I poise to reflect on why this is more than just a birthday celebration. She was diagnosed five years ago with a rare disease, a less common type of neuroendocrine tumour called a paraganglioma – quite a mouthful. We entered the public hospital system here in our home state not as strangers. You see we had already been through this almost two decades earlier with our first born son whom at just 13 months of age was diagnosed with neuroblastoma, a childhood cancer that occurs in specialised nerve cells which are involved in the development of the nervous system and other tissues.

Neuroblastoma is the most common solid tumour diagnosed in children aged five years. In Australia 40 children each year are diagnosed with neuroblastoma which is considered a ‘rare cancer’. Of those children with high risk or stage 4 only 50% will survive.

We were up against it back then, the protocol was brutal, our son was put through  a cytotoxic cocktail of chemotherapy drugs, then surgery, more chemo, an autologous stem cell transplant,  radiotherapy and finally retinoic acid which concluded the end of his nine months of treatment.

It was some months before he returned to being a cheerful, happy little boy. This cancer treatment took it’s toll not only on him physically, but emotionally and mentally we bore the scars. Our lives were in limbo, as Luke continued with regular blood tests and scans to monitor the effectiveness of his treatment and to alert us as to whether he would ‘relapse’. This eventually happened approximately five months later, in November 1998. The warning signs were there, loss of appetite, lethargy, it was time to get some answers…

Further scans indicated ‘widespread progression of his disease with a massive abdominal recurrence which extended into the extradural space, invasion of his vena cava, a mediastinal mass and parenchymal lung metastases.’  A Tumour Advisory Committee Meeting dated the 8th December recommended a palliative approach was an appropriate way to go.

We had a few options;

  • continue chemotherapy for about six weeks to get us through Christmas
  • admission to hospital as an in-patient palliatively
  • go home with palliative care support

We chose the later. Three weeks later our son passed away peacefully at home, just five days prior to Christmas 1998.

Our daughter came into our lives as a ‘rainbow baby’ as my husband and I had also suffered a stillbirth just months prior to Luke’s death. As she reaches this birthday milestone we are saddened that our son never had this opportunity, but ever so special for us as a family that one of children have made it this far. Although her condition is currently stable, considered to have metastatic potential ( she has tumours near lumbar and sacrum) as it is hereditary she will be monitored for the rest of her life. She has been through surgeries, and more recently PRRT.  She will continue having regular blood tests and scans. If required she will have further treament. This year she will graduate from High School and her positive attitude and outlook on life are a real tribute, as is her resilience.

We cannot control our circumstances, but we try not to live in fear. Despite our hardships I feel an unwavering amount of gratitude, it allows you to look at things retrospectively. We really have so much to be grateful for, including an organisation – the only one in AUS/NZ dedicated to supporting patients with NETs the Unicorn Foundation.

This September Childhood Cancer Awareness Month kicks off as the Sydney Opera House sails will ‘light up’ gold to honour all those children diagnosed with cancer on September 1st. It will be a special night as families, friends and supporters of those affected gather for a candlelight vigil, all people are welcome and LED candles will be provided. During the evening, images of children who are going through treatment, survivors, and precious lives not lived will feature on a big screen. You can be part of this virtual tribute wall by emailling your tribute (a photo and a few words about your loved one) to marketing@ccia.org.au

 

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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!