RARE DISEASE DAY 2018

Celebrating my sister's 21st in September 2017. 

Picture this: 

You're lying on a hospital bed after your doctor has cut short your brain surgery procedure. His reason - 'there is a suspicious nodule on your enlarged thyroid and I want it checked out ASAP.'  

You're frustrated because once again it's another 'health drama' to add to your list. You're angry and more than a tad 'pissed off.' 

However, what you're most annoyed about is that the topic of Cowden's Syndrome is raised again. 

Doctor- 
'Have you been tested for Cowden's Syndrome yet? I think your enlarged thyroid and the nodule on it is related to Cowden's Syndrome.' 

What is Cowden's Syndrome I hear you say? Cowden's Syndrome is a disorder characterised by multiple noncancerous, tumour-like growths called hamartomas. It's also associated with an increased risk of developing several types of cancer, particularly cancers of the breast, thyroid and uterus. 

Cowden's Syndrome is a highly-underdiagnosed condition that 1 in 200,000 people in the world have. Mum has the gene and has had two cancer diagnoses. It was highly suspected at the time of my first brain surgery that I did as well. 

But I never wanted to be tested because deep down my gut feeling was that I knew it'd be positive. 

At 21 years old, I just couldn't fathom the thought of having another medical condition to worry about on top of an already existing rare brain condition. I seemed to spend my time in and out of doctors and hospitals as it was. Why spend more? 

However, my thoughts and feelings about the situation did change over time. I decided that I needed to know for the sake of my health and for when I want to have children later down the track. It was better for me to be organised in preventing any future dramas. 

Recovering after thyroid surgery in August 2016. 

After testing and patiently waiting for three months, it was official. I had inherited Cowden's Syndrome as well. 

Since the diagnosis, I've been through several procedures and check ups. For example, I've had my thyroid removed. The doctor who performed the procedure was so impressed by the size of it that I felt like rewarding myself with a gold medal. He said they stopped counting at 100 nodules. Goodbye thyroid and goodbye elevated risk of thyroid cancer. Good riddance actually!

I also have to have regular ultrasounds on my breasts, with my last check-up being both an ultrasound and mammogram. Once again the count is through the roof but I'm being well monitored. I feel so out of place everytime I go to an appointment. Picture this... I'm sitting among 40 year old plus women. I'm too young to be here. I don't want to think about breast cancer and stuff like that. But I've learned that ignorance is not bliss. I need to know. 

Graduation Day from UWA in September 2016.

Cowden's Syndrome is a disease that is with you from birth. It is genetic. Having this condition has however had no effect on what makes me who I am as a person today. Despite everything, I've graduated with a Bachelor of Arts from UWA, I've travelled the world and I live life as best as I can. And I'm a really nice person if I say so myself. I just deal with my situation and get on with living!

Rare Disease Day is happening on the 28th of February worldwide. The main objective of this day is to raise awareness amongst the general public of conditions like Cowden's Syndrome. It also encourages researchers and decision makers to address the needs of those living with rare diseases. From my perspective, it would be awesome if one less doctor says 'Cow-what?'

One common trait you find with people that have rare diseases is that they never, ever give up. They are out there to spread awareness and they want to champion their story. Our stories are so rare and so uplifting that you'll want to help us continue our fight for awareness in this world.

Until next time....

AT xxx