Shrinking the Silence

Sharing a voice on living with rare disease

Five years ago, my life was saved — November 20, 2019

Five years ago, my life was saved

In early October 2014, I woke up from a colonoscopy to a concerned looking gastroenterologist. She started asking me about any family history of cancer and from that moment on I knew the cause of my bowel problems were larger than I thought. I think back to that day… five years on… and I see it now as the day that saved my life.

One of the first blog posts I wrote was about my incredibly frustrating and long journey to be diagnosed with Familial Adenomatous Polyposis (FAP). It took over five years of explaining my embarrassing symptoms to multiple GPs with little response, so much so I had given up trying to find an answer.

I can’t imagine where I’d be today if I hadn’t tried one final time to be listened to.

The thing with FAP is that it causes hundreds of polyps to carpet your large bowel – by the time I was diagnosed there were many that were at a stage of high grade dysplasia (next step… cancerous). I was able to take a year to prepare physically and mentally for surgery and do other precautionary things that may be impacted by surgery which I’m incredibly grateful for. But in the terms of polyps turning to cancer it really is scary to think that I could have easily gone on for another year or two without a diagnosis and intervention.

Being treated in time has been so important because on top of polyps in the bowel, FAP also causes me to have lots of polyps throughout very tricky areas of my GI tract (duodenum, stomach and ampulla, next to the pancreas). Whilst unlike bowel polyps that will 100% turn cancerous in people with FAP, these ones still have a pretty high chance and come in large numbers (who doesn’t love a polyp party!)

So at the time of diagnosis this meant that alongside meeting my surgeon for the first time, I was also back in day surgery for a gastroscopy to see what was happening in those other places. Thankfully at the time of diagnosis there were polyps, but they were all the smallest they could possibly be.

I didn’t have to play catch up

Instead, I’ve been able to have yearly monitoring and as required I have the larger polyps in these areas removed. It’s not easy on the mind to live with pre-cancerous growths inside of you, but I take comfort that I’m taking preventative action and my timely diagnosis meant this was possible for me.

Five years has been a long time and it’s given me time to reflect on what I went through to get diagnosed. In my first blog I wrote about one of the many GPs I saw who dismissed my fears and sent me on my way due to my age. His words made me feel like I was overplaying my symptoms and were what stopped me looking for an answer for the next two years. Am I still angry about how I was treated? Yes. But I have managed to process it all a little more and see that this is a bigger problem than this one GP. I’ve connected with more people on social media around the world, and been involved with Bowel Cancer Australia’s Never Too Young campaign and there are sadly too many diagnosis stories like mine.

Through understanding that there needs to be more awareness about bowel cancer in younger patients, I’ve directed my anger and frustrations towards that, in the hope of making it an easier diagnosis path for people in the future.

The wake up call to listen to my body — October 12, 2019

The wake up call to listen to my body

This is a pretty insignificant public plantar pot, but I happened to have a run in with it a few years ago. And by run in, I mean I was walking up to the shops and the world started spinning and next minute I was lying in the plantar, woken up by a passer by-er.

I walked past it today and it made me think how much better I have become in noticing my symptoms and acting before it reaches the point of no return.

In the lead up to this incident, the signs were there. I had started a new treatment a few months ago that my body was still adjusting to. It was less full on than chemo so I let my guard down on keeping up with anti nausea drugs but the reality was I could hardly eat because I was so nauseous and I was definitely experiencing diarrhoea. Yet it became my new normal so I didn’t even think to discuss the symptoms with the nurses. I just kept going and going until my body couldn’t go anymore.

I fainted and was very lucky that I fell into soil and not solid concrete as I did hit the back of my head. I spent the next few days in hospital rehydrating myself.

Dehydration is always going to be a risk for me, it comes hand in hand with having no large bowel to hold and absorb water and nutrients like I did before. Since this day I’ve had more times where I’ve become dehydrated and I have picked up on things like how the taste and satisfaction of water changes and how I feel disorientated and struggle to speak coherently. I’ve also learnt that with dehydration or UTIs that I regularly get, things can go from pretty mild to extreme in a very short time. When I first got sick I didn’t want to be the type of patient who was always asking for help so only really mentioned problems when they were at that point of no return. Reality is, doctors and nurses want to help but can’t when they don’t know the full picture, so I’ve gotten better at reaching out as well.

It’s not easy to have to slow down or check yourself into hospital when chronic things pop up…but I know now from experience that when I do act early, I’m better off in the long run.

Any body, whether it’s chronically ill or perfectly healthy, has limits – don’t forget to notice your normal and what you can do when you’re physically struggling.

Letter of appreciation — August 25, 2019

Letter of appreciation

I never would have anticipated having such grief and emotions over your departure from my treatment team. 

I’ve cried multiple times and then when I thought I had come to terms with the change, I felt all the emotions again when I had my first consult with my new oncologist. 

Funny that just like any relationship breakdown, there are triggers and reminders. The trigger for me the other day was being in the consultation room where so much has happened, with a new doctor – starting a new chapter in my desmoid tumour adventure. 

I realise that incredibly good and incredibly bad news was delivered there… and ultimately… trust, report and a caring doctor/patient relationship was formed in consult room 2. 

I’m not an easy person to win over. I like to challenge things and find ways to maintain that little bit of control in my life. You picked that up from the first few appointments and worked that into how you talked to me, and it didn’t go unnoticed. 

In the early days, every time i saw you I was incredibly nervous about what news would be shared, what my scan results would be. Every time, you delivered news to me in a calm way that made me feel I could keep going and have complete trust in the process.  Here I am, three years later and still showing up every 2-3 weeks for treatment.

Trust takes time to build, but with my rare and aggressive tumour…time wasn’t on our side, yet you managed to get me onboard with starting chemo. When chemo wasn’t slowing down the tumour at a satisfactory rate,  you took ownership of my care during a multidisciplinary team meeting where the general consensus was to operate. That was the moment I really knew you were on my side and were willing to go all out to find the best treatment for me – always with quality of life in mind. 

A rare disease and tumour like a desmoid isn’t easy to come up with a treatment plan for. It really touched me that you found opportunities whilst overseas for conferences to reach out to drug companies trialling treatments for desmoid tumours to find out more. 

You may no longer be my oncologist, but I will always remember everything you did for me through the hardest and scariest time in my life. 

Claiming back lost hope — August 5, 2019

Claiming back lost hope

Hope has been such a powerful and important word for me as I continue along the uncertain and rocky road that is life with a desmoid tumour and familial adenomatous polyposis. 

The many specialists and surgeons I see have always managed to give me advice that is future thinking – whilst being completely honest when things aren’t smooth sailing – and I’m so grateful for that as a young person. 

So you might be wondering why I’ve titled this blog claiming back lost hope. 

What I’ve come to realise upon reflection is the enormity of what chemo took from me. I went through 6 or so months of chemo when I was 27 and as it flushed through my body every week, it really showed my tumour who was boss and stopped it growing, and even started shrinking it. I credit the chemo for navigating me out of an extremely high risk situation…but like everything in life, it came at a cost. 

The visible cost was my hair. Nothing could have prepared me for the trauma and loss I felt. As I started reaching hair goals, I was elated but at the same time couldn’t imagine my hair getting back to it’s pre-chemo lushness and length. Here I am, two years on from my hair starting to grow again, and I still pinch myself when I look in the mirror and see a full head of hair that makes me feel like ME. 

Then there’s what was happening behind the scenes after chemo. It turns out, many body organs don’t respond well to the wrath of chemo – my ovaries in particular. A few months after transitioning from chemo to the treatment I’m on now, my periods stopped and were replaced with pre-menopausal symptoms. With these symptoms I lost hope in my future fertility and options for starting a family. It probably didn’t help that my long-term relationship had just ended as well – hope was not on my side and it felt like my body was failing me at a time in my life it was meant to be in its prime. 

It’s been a rollercoaster ride to say the least, but I feel that I am gradually coming out of the trauma and challenges of life after chemo and claiming back lost hope. 

I recently had blood tests that showed my hormones are back to normal and my ovaries are working again, after two or so years of essentially being in menopause. I picked up on my ovaries working before the blood tests as I have now had two periods. I don’t think I’ve ever been more delighted to have a period in my life! I am still very cautious and tentative on being too positive. As I have familial adenomatous polyposis – it will be a long process of genetically testing embryos because my personal choice is I don’t want to take the risk of passing this on. Then there’s the unknown about the full extent surgery and this desmoid tumour has had on my fertility… i won’t fully know until I try. 

What I am trying to do for now is live in the moment. I’ve gained back so much this year and on the ovary and fertility side, I’ve been handed a sliver of hope that I thought was well and truly lost. 

Most of all, I’ve once again been amazed at what my body can bounce back from.

I’m rare and these are my stripes — February 27, 2019

I’m rare and these are my stripes

Every year on the last day of February, rare diseases are recognised, as well as the challenges that come with the disease such as getting an initial diagnosis, being listened to by health professionals and finding treatment options.

There have now been five rare disease days since I received my diagnosis of Familial Adenomatous Polyposis (FAP) in October 2014. My initial diagnosis was then followed by another rare disease linked to FAP called a desmoid tumour.

The zebra often symbolises rare disease, because of the uniqueness of their stripes that all tell a different story – no zebra is the same, but there is common ground in that they all have black and white stripes.

It took me a few years to acknowledge the power of finding that common ground with others in the rare disease and chronic illness communities, but since I have it has made the burden of being different and going through struggles you wouldn’t even think of in your 20s that much easier. Knowing that I’m not the only one who has struggled with identity after chemo-induced hair loss, or that life and socialising takes it out of others as well and prioritising rest is a must from time to time – it’s things like this that I have found so helpful through connecting with people.

These days I also appreciate much more the opportunities that come up to raise awareness about rare diseases. A few months ago I felt really happy that during a hospital stay, for dehydration whilst overseas on holiday, I could raise awareness about one of my rare diseases, the desmoid tumour. I’m in such a routine of seeing doctors who have familiarised themselves with my condition that I forget that majority of medical professionals will never come across this type of tumour in their career. The doctor I saw during that stay was so surprised at how aggressively it grew in my abdomen, and genuinely was interested in how it was being treated.

There’s lots of hope and promise coming out of research into desmoid tumours, and smaller pharmaceutical companies (or subsidiaries of the larger ones) who are taking an interest in rare disease and rare cancer treatments. I’m also so grateful for organisations like the Desmoid Tumor Research Foundation in the US that keep fighting for answers for desmoid patients like me.

2019 is looking hopeful for me. My desmoid tumour is stable, and has been for close to three years. I find out in a few weeks whether I can look into doing my treatment less often and that to me is a HUGE milestone so I have all my fingers crossed.

To all the new j-pouchers out there — October 23, 2018
Reflecting on my rare disease journey — July 4, 2018

Reflecting on my rare disease journey

I started my blog and sharing my story because of the isolation I felt, the intense silence I felt around rare disease in my daily life.

Hopefully I have helped a little and will continue to shrink the silence for those who read my story.

In my own experience, since sharing my story and joining the online social community, I feel like the silence has shrunk for me.

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Acknowledging my medical trauma, three years on — May 2, 2018

Acknowledging my medical trauma, three years on

In September this year it will have been three years since I lost my bowel, it’s taken me this long to fully appreciate how much this has affected me. The bowel is a funny organ to lose. You often hear of throwing parties before amputations or things like that. When it comes to your bowel, how do you send it off in style? It’s not exactly an organ we talk about openly.

My fight or flight response at the time definitely was to fight. I pushed through and didn’t let my emotions get in the way of moving past each hurdle and making a full recovery, although very importantly I did start seeing a psychologist because I did have a lot of fears and anxiety around the diagnosis. I had no idea how to process the news that I needed to have major surgery to remove my bowel. I barely knew the importance of my bowel (I definitely do now that I no longer have it!).
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When you’re invisible — April 21, 2018

When you’re invisible

I don’t look sick. This brings about lots of assumptions about me.

Without knowing me well and just by looking at me, you wouldn’t know that I have short hair because it fell out from chemo. And that because of that chemo and the ongoing treatment I have now I often feel tired and out of energy.

You wouldn’t know that I have a tumour the size of a large mango in my abdomen.

You wouldn’t know that I’m missing my large bowel that means I don’t absorb all the nutrients and fluid that would be useful to have.

You wouldn’t know that I really need that seat on the train, but I’ll make do with leaning on the stair walls.

You wouldn’t know all of this because in order to not be defined by my illness I try really hard to maintain normality and keep going and pushing myself.

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Feeling empowered as a young patient — April 12, 2018

Feeling empowered as a young patient

I often write and think about how unfair it is to face such health challenges in my 20s when I should be at the prime of my life. It was also my young age that almost didn’t get me diagnosed in time to have preventative surgery. I was too young to be considered to have cancer, instead I was just not exercising enough and needed to improve my diet.

On the flip side, I feel that my age has really contributed to me getting such great care and having doctors, nurses, allied health, secretarys, admin staff go the extra mile to make my life easier and digging for treatment options that factor in how much life I have ahead of me.

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