Please Help me get Genetic Testing!

Hello Lovely person,

Thank you for taking the time to even read about my situation!.

My name is Sarah and I’m 26 years old. 

I’m a cat mum, a dedicated nerd and lover of stationary!

In 2019 I was about start uni for community support, I was working full time as a barista which I loved ( Melbourne has made me a coffee snob!) and I was about to begin my journey into my future. That was until My ovary torted and adhered to my bowel.

After that It was like a snowball effect, my bladder stopped working, I couldn’t stomach food and my intestines wouldn’t move, I was in agony, my limbs wouldn’t stay in their sockets, I was faint and fainting daily and my heart would race non-stop. I saw doctor after doctor all telling me there was nothing wrong, until I came across one clinic in that gave me the answers I was searching for.

I have a condition called Ehlers-Danlos Syndrome (EDS).

If you googled my condition, it would tell you it’s a genetic disorder that creates faulty connective tissue, it tells you that you might be flexible and may experience mild pain. And for those who experience the lighter side of this spectrum condition, that’s all you experience, but for me, EDS is so very much more.

What is your brain? Connective Tissue.

What are your organs held together by? Connective Tissue

What helps you move your body? Connective Tissue.

Connective tissue is the glue that hold you together, all your tendons, your organs and even your eyes. This debilitating, degenerative condition has impacted every single system in my body, I’m in agony daily, it’s taken my mobility and my cognitive function. Not a single system has been left untouched. It has taken my life. I will die young, I am unable to carry children. I’ve lost function in my bodies entirety, my movement had declined and I cannot do so without aid. Even my bodies ability to keep me alive, known as Homeostasis, works incorrectly and I experience symptoms all day every day.

There is no cure for this condition and some doctors don’t even believe it exists, meaning the pool of specialist I see are in a very small community.

in my every day, my brain can’t talk to my bladder so i have a permanent hole to drain from, my bowels don’t move without medication, my body can’t keep my blood pressure stable, my heart is forever Tachycardic, I deal with daily partial and full dislocations of every joint in my body,I am in constant un-shiftable pain, I have three year old open wounds because my skin just wont heal and I now struggle to even remember the words I want to say on a bad day. All of this while I take about 30 medications all throughout the day just to be able to get out of bed!.

I have a doctor for very bodily system, one even playfully giving me the nickname ‘Shit Magnet’ because as we face one problem, another will hit me that puts us back to square one!. Over the last 6 years I have spent more time at hospital and in appointments than I have at home and 2024 was the worst yet.

I went from someone who was career orientated and determined to make a life for myself, To a shell of who I once was, on a pension and being supported by the NDIS.

The EDS community call ourselves Zebras. This is because in medicine there is a saying ‘if you hear hoof beats, it’s probably not a zebra’ meaning look for the generic, the known, the understood. This condition is still being learnt about.

There are 13 subtypes and each come with their own problems.

So why am I raising funds? I have had some crazy symptoms that don’t seem to fit the usual EDS diagnosis criteria. Ive had long term major problems with my vascular system, veins bursting, PICC lines and Central lines failing, one central line was even caught on X-Ray flipping around by itself!

There is a type of EDS called Vascular EDS (vEDS) its one of the scarier subtypes that is more deadlier. Any artery can rupture and the heart can be effected at any point.Its a scary diagnosis to face.

My specialists and I feel its time to get genetic testing to either disprove the potential diagnosis and continue to manage my declining symptoms as we are, or, confirm the diagnosis which allows us to look at the symptoms in a different way and manage them accordingly.

In all honesty I need these genetic tests to either put my anxieties at ease or prepare myself for what this diagnosis will mean for my future. Im scared. I need clarity.

After waiting for Months I have an appointment in April 2025 to begin the process.

all of this is well and good if it wasn’t for its price point!

The clinicians fee and the testing itself will cost up to $2500,

People who test for this condition are few and far between in Melbourne and the testing itself is incredibly expensive. This means that alone, as a pensioner, in no way can I afford to do this alone, and continue to pay for my treatments, appointments and copious amounts of medication.

Those that know me know I find it hard to reach out for help. Instead I soldier on and I do my best to spread love and kindness because I’ve seen and experienced the bad of humanity.

I know despite it all there is so much good and good people out there.

I’m reaching out today to ask for your help to give me the peace of mind I need to continue on with my life and continue to keep on keeping on as I say to all those who ask how I am.

I Have to raise $2500 by the beginning of April and can only do so by asking for your help.

I appreciate you for even just taking the time to hear my story, and if you can’t give, I ask that you share my story and pay forward a kindness to someone in your life.

The world needs more kindness.

Thank you,

From Sarah xx