Shrinking the Silence

Sharing a voice on living with rare disease

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.

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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When your body starts catching up with you — April 11, 2018

When your body starts catching up with you

I’ve recently realised that I’m at a stage in my journey with rare disease that my body is catching up with me, and a lot of my problems are chronic and aftermaths of necessary surgeries and treatments to save my life. It’s taken me a few years of being ill to truly appreciate that a large part of my life is dealing with chronic illness, that will never go away, and will leave me with periods of feeling fatigued and dehydrated.

I have diseases that are very rare and that involve monitoring and removing cancer before it becomes a problem. This means that one of my hats is cancer. Yet I’ve never felt I am the true story and example of bowel cancer, because I was incredibly lucky to find out about my FAP just in time, when the polyps were starting to change to cancer, and I had my bowel removed. I am still at risk for cancer, with pre-cancerous polyps all over my duodenum, stomach and ampulla, but these are monitored regularly and removed when they start growing.

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Another year of being rare — February 28, 2018

Another year of being rare

Today is Rare Disease day. Last year on this same day was the first time I shared my story on social media and I can definitely say I’ve never put myself out there like that before, but I’m so glad I did because in the rare disease and chronic illness community, we need as many voices out there. I’ve also learnt more about myself than I could have ever imagined at the same time.

The hashtag for this year’s Rare Disease Day is #ShowYourRare.

Here’s what my rare looks like in a year:

  • Close to 50 regular blood tests, then add a few from hospital stays
  • My portacath accessed close to 50 times for IV treatment
  • Give or take 30 hot and humid summer days struggling to stay hydrated with no colon – the struggle is real
  • Unknown impact on my fertility
  • 6 day procedures
  • 2 new doctors making it a total of 6 specialists I regularly see
  • 1 amazing treatment with no name, keeping my desmoid tumour stable with next to no side effects, and all thanks to research.

Research also happens to be the theme of 2018 and is so important for rare diseases. Trial and experimental drugs, like what I’m on at the moment, offer so much hope for diseases like desmoid tumours where the treatment path isn’t as clear cut because there aren’t enough patients to base success rates off.

This year I will need to rely on research and other options once again because the stock of the drug I’m currently on expires this year.

I am also so lucky that my rare also looks like this:

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I have my challenges but my rare disease was caught in time to be treated effectively and not reactively, and I can continue to live a full life.

January — January 31, 2018
Shrinking and acceptance — November 21, 2017

Shrinking and acceptance

I call this post shrinking and acceptance because both of these things have happened with my desmoid tumour recently! My tumour has been stable since the start of the year, not to mention continually shrinking, and this has helped me accept it as part of my body that will probably always be there, but now I feel confident that it can be controlled and I am under great care.

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My A-Z of having a rare disease — September 18, 2017

My A-Z of having a rare disease

Appointments and adding a new doctor to my list every year.

Blood tests, so many that I no longer flinch when the needle goes in.

Confusion,  navigating the confusing world of the unknown.

Dehydration
and still taking a long time to realise when I am dehydrated.

Enduring the hard days.

Fatigue, learning that fatigue is much more than being tired.

Grief for my life before diagnosis.

Hope for more research, treatment options and my desmoid to disappear.

Intuition, knowing my own body and when something doesn’t feel right.

Juggling multiple things at once.

Kindness of people around me.

Laughter, it’s the best medicine for me.

Maturity, learning so much more about myself and what I’m capable of.

Nurses, being under great care every time I go for treatment, a procedure or surgery.

Operations and recovery.

Positivity, trying to be positive whenever I can.

Questions, endless questions.

Research, I’m great at searching google these days.

Support from my family, friends, nurses and doctors.

Trials, when you’re rare, you need to take experimental drug options that are available.

Ureteric stents to protect my kidneys.

Vacations to have something to look forward to (I would usually say holidays but I’ve already used H!).

Work, feeling lucky I can still work full time and have that routine.

X-rays and scans, “breathe in and hold your breath”….”breathe”.

Yearly endoscopies to check for polyps.

Zzzzzz on the days I need extra sleep.

2 years on from my surgery — September 4, 2017
Going on holiday with extra baggage — July 21, 2017

Going on holiday with extra baggage

For the first time since my surgeries and desmoid tumour, I went on holiday overseas, to Hawaii, with my rare diseases in tow. I was so nervous in the lead up, as with me… whenever I end up in hospital it is usually out of the blue and the last thing I wanted was to end up in hospital overseas. Luckily all went smoothly and I had an amazing time soaking up the sunshine and catching up with my good friend who showed me around the island!

It was also the first time going on a long plane trip since having my j-pouch (aka no large colon). I know that the altitude can cause a few problems so I was worried that on a 10 hour flight I’d be in and out of the bathroom a lot – but actually on both flights I had no issues at all and with my trusty aisle seat a bathroom was always nearby.

Taking a trip for me now means I have to do a bit more preparing with my travel insurance, doctors letters and making sure I have packed my medications – but it is do-able and this trip has shown I can get away with minimal issues, even while on active treatment for this desmoid tumour.

There’s something about getting on a plane and going far, far away that really made me feel I’d had a proper break from work and all the medical appointments associated with my current treatment.

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Why I smile — July 3, 2017

Why I smile

I smile to put on a brave face.

I smile to distract myself from my worst fears.

I smile to feel normality.

I smile because I have supportive family and friends.

I smile to show I’m more than my illness.

I smile because I have a future.

I smile because there is hope.