Catchy title huh! You might be asking what an apple has to do with a unicorn? Read on….
In 2012 our eldest daughter Tayla, then just 12 years old, was admitted to our local hospital after months of vague symptoms such as dizzy spells, anxiety, excessive sweating and a racing heart. After discovering a lump in her abdomen herself, we were referred to a medical clinic by our family doctor for an ultrasound, and then an MRI where a mesenteric mass was discovered. It was then time to get some answers via our local hospital.
Here we go again, yes we had been through this previously back in 1997 when our first born son Luke, just 13 months old, was diagnosed with stage 4 neuroblastoma. Sadly Luke died just before Christmas in 1998; I also suffered a stillbirth months prior to his death. Not an ideal situation to be going through again, but there we were. By the time we made it to the hospital with Tayla it was evident this was not a hernia, as our doctor had initially suspected. Within hours we were speaking to a surgeon and the very next day a biopsy was scheduled, this doctor wasn’t wasting any time.
It was a tense situation, full of stress and anxiety; I can’t imagine what was going through Tayla’s mind, apart from feeling scared and worried that she may have cancer! After the biopsy the surgeon spoke to us and on initial diagnosis by pathology it appeared to be a paraganglioma – a neuroendocrine tumour (NET). The statistics he quoted were that 97% of these tumours were benign and just 3% were cancerous. Well I must admit we thought we had won the lottery, let’s face it those statistics seemed favourable. We were referred to the Familial Cancer Unit at the hospital. As this is a rare tumour in children it was possible it could be genetic, along with our son’s diagnosis, could this be linked?
It wasn’t until four months later when we received the genetic testing results, that our hearts sank. Tayla was diagnosed with a genetic deletion of the SDHB gene, and her condition familial paraganglioma. This means that the chances of her disease becoming metastatic are high, along with the increased risk of developing other types of cancer including renal cell carcinoma and skin cancer. But it still didn’t give us any closure with Luke, as his stored DNA was also tested along with Tayla’s and showed no evidence of the mutation – so for now his appears to be sporadic.
I wanted to include the late Steve Jobs in this post as he had an islet cell pancreatic neuroendocrine tumour – not the aggressive form of pancreatic cancer that Patrick Swayze succumbed to. Jobs was also one of the first 20 people in the world to have his genome sequenced at a cost of $100,000 US. Neuroendocrine tumours (NET) also include neuroendocrine cancers (NEC) like neuroblastoma, Merkel cell carcinoma, medullary thyroid cancer (MTC) paraganglioma and phaeochromocytoma to name a few.
Since her diagnosis three years ago, Tayla has undergone two separate operations to remove the tumours in her abdomen. Now it is classed as inoperable; we know there is no cure. Her disease is stable for now, there are five tumours growing slowly, so we take that as a win of sorts. She is taking alpha blockers to control her symptoms when her blood pressure spikes due to these functioning tumours (they secrete noradrenaline) which cause her heart to race, she feels nauseous, dizzy and at times rather lethargic. There has been talk of using PRRT (peptide receptor radionuclide therapy) if she is eligible – time will tell.
This post is timely as an annual event was created by INCA (International Neuroendocrine Cancer Alliance) called NET Cancer Day http://www.netcancerday.org to raise awareness of neuroendocrine cancer on November 10th each year.
In Australia there is only one medical based charity to support patients with NET http://www.unicornfoundation.org.au founded in 2009. There are also approximately 750 new diagnoses each year in Australia, with 8,000 affected. In the UK the statistics are approximately 3,000-5,000 newly diagnosed in which prevalence is larger than incidence according to www.netpatientfoundation.org. For our US counterparts an estimated 8,000 are diagnosed each year according to www.cancer.net.
By now you should understand my reference in this blog title to apples and unicorns, at least I hope so. It doesn’t take long to realise that we are fortunate so far, as Tayla’s diagnosis was swift, but there are many patients with advanced disease, waiting on average 5 -7 years for a diagnosis many a decade or longer. Dismissed by doctors and specialists as symptoms appear to be related to other conditions like irritable bowel syndrome, high blood pressure and anxiety. Many are referred to see a psychologist, and so the medical merry-go-round continues, until patients become frustrated and then look for support through organisations like The Unicorn Foundation and many others around the world.
One thing I have learned through this ordeal is finding meaning and purpose in my life, like blogging, writing and connecting with others that have also experienced child loss and a rare diagnosis. Being involved in fundraising efforts for the charities we have special connections with, brings gratitude. By having the resilience to deal with this, you soon realise you have to pick yourself up, and just get on with it.
Jackie is a mother, published author and health advocate for causes close to her heart like stillbirth, childhood cancer, rare diseases and NET cancer. Currently she has her own blog www.lovehopeandcourage.wordpress.com and also writes for www.sands.org.au a not-for-profit organisation supporting families experiencing pregnancy loss and stillbirth in Australia. Jackie also writes for www.myinvisiblelife.net a not-for-profit blog for people with invisible illness and disability to share their inspiring stories around the world. She is currently serving as a consumer representative on several committees for the Women’s and Children’s Health Network in Adelaide, South Australia where she resides and was recently appointed to The Unicorn Foundation as a Consumer Advocate Leader. In 2013 Jackie published her first book on child loss ‘Through a Mother’s Eyes: Poems of Love, Loss and Moving Forward’. You can also find her on twitter @luvhopecourage.