Life is a Rollarcoaster – Perspective of a Cushing’s patient.
Today is Cushing’s Disease Awareness Day
And here’s why it’s important to me.
Cushing disease is a condition in which the pituitary gland releases too much adrenocorticotropic hormone (ACTH). It is caused from a tumour or excess growth (hyperplasia) of the pituitary gland
Only 2 – 3 people per million are identified as having the disease each year – those are the ones that are identified. Many additional cases might go undiagnosed because symptoms are mistakenly attributed to other conditions such as type 2 diabetes, osteoporosis, insulin resistance, polycystic ovaries
Because of the lack of awareness of the condition, the path to diagnosis is incredibly long and the journey lonely and challenging, for patients, and their carers – for me this journey to diagnosis has been a rollercoaster of over 20 years.
I think I have been to every “ologist” under the sun, gastroenterologist, immunologist, haematologist, gynaecologist, endocrinologist, cardiologist, ENT specialists, even psychologists as well as countless natural practitioners, and allied health professional.
I have had CT Scans, MRIs, Xrays, biopsies, bone scans, colonoscopies, endoscopies, pill cams, laproscopies, ultrasounds, petrosal sinus sampling, Glucose tolerance tests and the list goes on
With every “ologist” came so many potential diagnosis – polycystic ovaries, potential celiac, hashimotos, hypothyroidism, irritable bowel, insulin resistance, endometriosis, appendicitis, – with each diagnosis came a rollercoaster journey – with each, there was the relief that finally something that they can treat, the hope that I can finally feel normal – although I had forgotten what normal was
With each potential diagnosis – I spent so much money on treatments, medications, appointments etc – it was just a perpetual revolving door, going to appointments and each time slowly losing the confidence that it would be worthwhile – as none of the diagnosis were correct
The doctors were baffled to the point where they thought it was all in my head, a hypochondriac – I think even my parents probably thought that at one point
In 2011, I had to do a medical for my insurance and I failed the medical due to abnormal blood results
The blood tests showed a high white cell count and coupled with the fact that I had been bruising – I went to the GP and before I could sit down – she said “we need to send you to a haematologist – I think you have leukaemia” as you can imagine – that totally threw me – I was speechless but went through the motions of “am I going to die” etc.
I went to see a hematologist and she by chance had a brother who was an endocrinologist so was familiar with hormonal related conditions
She took one look at me, of symptoms of moon face, thin skin, weight gain around my stomach and some markers in my bloods and she had a light bulb moment said “have you even been told about Cushings disease” and proceeded to organise the tests for the condition and it was confirmed
Fast forward, since then, I have had 2 brain surgeries so far, a ghastly medication/injection regime and a series of other co-morbidities as a result and the journey continues
For those who have not heard of Cushings or are not a patient, what I have described may seem extreme, but for Cushings patients, it is an all too familiar story and our reality.
As a patient of a rare disease, we often don’t feel heard, we are forced to do our own research, become experts and take control of our own destiny. The journey to diagnosis is very long and that is because, as I mentioned before, the symptoms mask as a lot of other things. Doctors have to be familiar with a lot of diseases so it’s not their fault that they may often mis diagnose or go down the path of a more common diagnosis
Going through the journey and having some time off to reflect – it took a major toll on me physically and emotionally. I wish I had a diagnosis earlier, I wish there was more awareness and support of the disease and more information. My family wished they had support as they told me they felt helpless.
Since being involved in the Australian Pituitary Foundation it has been invaluable I really wish I had been involved or discovered it as soon as I would have gotten diagnosed. Everyone’s experience is different but I feel I would have been better prepared.
It has provided me with resources and information with more detail of my condition and the recognition that many of my symptoms were normal rather than feeling that I did not have a right to feel the way I was feeling physically and emotionally
Also talking to other patients and families and forming a network who understand, and can relate as it’s like anything – no one can truly understand how lonely and debilitating how undiagnosed Cushings is, nor the day to day challenges, no one really understands the headaches, the symptoms, the emotional rollercoaster unless you have been through it – and how can we make this journey easier for those who are suffering and their carers? – it is through awareness
That is why I am so passionate about educating our medical community and raise community awareness through the Australian Pituitary Foundation. Our logo is a Dandelion which is a symbol of hope and that is exactly what the Foundation was for me. Getting to play a role in making the rollercoaster a little less scary for other patients has been one positive aspect of having this condition and creating awareness so that maybe someone else won’t take 20 years to get diagnosed and give them hope.
So that is why Cushings Awareness Day is important to me
Malini Raj – Cushings Patient and Director (Australia Pituitary Foundation)
For more information please visit our youtube channel which has two videos addressing the impact of Cushing’s disease on a child https://www.youtube.com/watch?v=O2vgzR8MqJk&t=32s and in Malini’s case https://www.youtube.com/watch?v=FbfUkSIy87Y&t=22s. (Yi Yuen).