Why The Treatment Of Chronically Ill & Rare Disease Patients NEEDS To Change

Disclaimer – this post is not intended to bash doctors or the medical system, merely to bring to light the treatment millions around the world face on a daily basis.

In honour of Rare Disease Day I wanted to cover a topic most aren’t often aware is an issue. That being the treatment of chronically ill and rare disease patients in the medical system. when your healthy and able bodied and go to the doctor it’s usually for acute things that can be fixed or cured. But this is not the case for those with chronic illnesses when they seek medical care, especially after lengthy testing trying to find an answer. Chronic illness and rare disease while different have a common thread that being the treatment in the medical system. Doctors and specialists fall short in education, diagnosis and treatment of chronic and rare conditions. This is vastly due to their education, specifically in being taught “when you hear the sound of hooves, think horses”. Rare diseases being referred as Zebras.

The purpose of the phrase is to teach them to assume that health issues are the simplest explanation. the issue with this is that many forget zebras do exist and are more common than you think. One in 20 will suffer from a rare disease throughout their life, think about how many people a doctor or specialist will see you in a day, week, month and year. How many patients would they be seeing that are suffering from an undiagnosed rare disease. Because doctors don’t receive the proper education on basic kinds of chronic illnesses, let alone rare diseases which makes getting a diagnosis and treatment incredibly difficult.

Even when diagnosing rare conditions most do not understand majority of the symptoms involved. And that each person with a disease is completely different from another. I myself was asked if I had super stretchy skin and was overly flexible. I said no, I couldn’t even touch my toes. Yet I was recently diagnosed with hyper mobile Ehlers-Danlos syndrome. I can’t touch my toes or do the splits but my shoulders, hands and feet are hyper mobile and while my skin may not be super stretchy, but it doesn’t heal properly and bruises easily. EDS affects every single person differently and there are so many symptoms of it. But doctors only focus on Two of the many symptoms and because of that it takes years for people to get the diagnosis this is the same for any rare disease and chronic illness.

Those that do receive a diagnosis or are still in search of answers and treatments for their very complex symptoms. Only 5% of the 5000 known rare diseases have a treatment/s. Because of this patients are being turned away doctor or specialist wants to see a patient they can’t help. I’ve known some medical professionals that are “too stressed” by the mere thought of the condition to take on the patient. Even just to fill out the scripts that are a lifeline for the patient in managing day to day. Adults, teenagers and little kids are being denied a basic human right because of the complexity of their condition. Something they have zero control over, that has complete control over their quality of life. Most with chronic conditions avoid hospitals at all cost, sometimes to their own detriment because of the mismanagement, diagnosis dismissal and their focus on treating their already known symptoms instead of the issue they came into the ER for.

It’s especially troublesome for those with stomach issues, as their condition is just seen as anorexia or bullemia. And instead of receiving the treatment they need they are referred straight to psychologists. I know this because it’s happened to me on more than one ocasion and has caused a lot of anxiety for me around hospitals. I can remember coming in to the ER in agony and unable to eat, begging the paediatric doctor for something for the pain so I could eat. He gave me a sandwich and told me I had the beginning of an eating disorder and I needed psychological help. This isn’t just me reality but that of millions, see when he medical system is faced with symptoms they don’t understand majority of the time the cause is put down to the patient being a hypercondriact, a mental illness or both. Once the first few tests come back normal their focus turns to breathing techniques and phyclogists. Because your brain “can trick you sometimes” which yes it can, but that isn’t the case for everyone. And many that do experience anxieties is due to the pain and sickness they have to live with. When you deal with such horrific feelings on a daily basis you pay attention to the symptoms you are living with. I can’t count the amount of times I have been told that i “was very knowledgeable on my symptoms” when explaining how I’d be feeling lately. They thought I’d googled symptoms before my appointment.

This was the same for my Mum, she was constantly accused of Munchausen syndrome by proxy (MSBP) a mental health problem in which a caregiver makes up or causes an illness or injury in a person under his or her care, such as a child, an elderly adult, or a person who has a disability. – uofmhealth

These types of accusations are what destroy families and isolate people to an unimaginable degree and down a road that can lead to someone taking their own life. Living with any sort of pain and or illness on a daily basis is too much already for one person to have to deal with. Dealing with constant dismissal, accusations and judgement tares down a person bit by bit.
Seeing a mental health professional is great for dealing with the stress load that comes with an illness, but we cannot keep throwing on the mental health label and dismissing the debilitating condition the patient in having to contend with on a daily basis.

Today the Australian government launched the first national action plan for rare diseases. Their aim is to increase awareness, promote earlier, more accurate diagnosis and treatments to Australians suffering from Rare Diseases. Rare Voices Australia developed the action plan and the government is also working on developing and dispersing new resources to educate health professionals and provide new support to those living with rare diseases – health.gov.au
Australia is miles behind with medical care, support and awareness for rare diseases and chronic illness. My hope is that this will be the beginning of a change for the treatment of the rare disease and chronic illness community in Australia.

To anyone out there dealing with the mismanagemnet, dismissal and judgemnet in the medical system my heart goes out to you! I promise you are not the only one being treated this wy, even if it may feel like it. This is not your fault and you have done nothing wrong! Our system is broken and unfortuantley right now you are getting the brunt of it. Our only option is to use our voice. Our voices do have power it only takes one pebble to start a ripple effect. Even if it dosne’t hep you with the specailist your seeing right now, it may help the next person they see like you. xx

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