Rare Disease, a fight for your life
By Georgie Bailey, 22 August 2022
One way we raise awareness is by having the courage to share our stories so others begin to understand the challenges we face and why change is needed.
As someone diagnosed with two rare diseases February 28 is an important day in my calendar. It’s Rare Disease Day. Each year it marks an opportunity for members of the Rare Disease Community to raise awareness within the broader community and decision-makers about rare diseases and their impact on our lives. One way we raise awareness is by having the courage to share our stories so others begin to understand the challenges we face and why change is needed.
Acquiring two rare diseases has irrevocably changed my life. I had finally found my groove, starting again in midlife with an amazing partner to create a wonderful life filled with making art, writing and travel. But just as our wonderful new life was starting, it began to unravel. Something started to change for me. Simple pleasures like our morning walks were becoming difficult. Exhaustion and chronic pain became a daily feature and I was suddenly unable to keep up with the exciting new life I had been leading.
Simple tasks like holding my arms up to style my hair, going up and down stairs and even getting up from a chair had become difficult endeavours. Within a couple of years, my mobility had decreased from being able to walk across Paris to needing a cane to shuffle from one room in the house to the next.
Throughout my journey, writing has been a way to process my frustrations and celebrate my wins. In turn, reading about the similar experiences of others has also been an immense help. Their stories have helped me recognise symptoms and provided me with the notion that I am not alone. Through others, I have been given the knowledge, energy and the strength to carry on. This Rare Disease Day I am paying forward the gift that others have given me.
The challenge of being rare
One of the biggest changes I would like to see is a more effective approach to the diagnostic journey.
The business that is the medical system – and make no mistake it is a business, not a social service – is not structured in a way that effectively supports rare disease patients. The system forces doctors to work fast, tick boxes, write a script and get the patient out the door. This might be an acceptable method if the patient has a condition where the boxes are easily ticked, but for those with a rare disease this process can become a nightmare.
There tends to be an insular approach to medical practice where doctors focus on the part of the body in which they specialise. The maddeningly slow, sequential engagement of different specialties can result in significant and devastating delays in receiving a diagnosis. The process often leaves patients in a powerless state of limbo as their bodies continue to deteriorate without access to treatment or support from the National Disability Insurance Scheme (NDIS). Patients can find themselves in this limbo for years.
I have spoken with many people who like myself are left frustrated and often without hope, having spent thousands to get nowhere and fearful of what their future holds.
There has to be a better way
According to Rare Voices Australia, a disease is rare if it affects less than five in 10,000 people. Their findings indicate there are 300 million people living with one of the 7000 odd rare diseases worldwide.
By definition, these diseases are rarely encountered, even by the medical professionals assigned to treat them. Many doctors may not have seen a case first-hand until confronted with a patient. Finding solutions and new treatments for these less prevalent diseases doesn’t represent a great value proposition for the pharmaceutical industry, so less research tends to happen compared to more common (and profitable) diseases. This is why donations and philanthropic support is essential.
My Journey With Myositis
I have been diagnosed with two rare diseases called Myositis and Interstitial Lung disease (ILD). Myo meaning muscle and sitis meaning inflammation.
While this incurable, systemic autoimmune disease is classified as a muscle disease, it can also affect the heart, lungs, skin, GI tract and can be associated with cancer. It is basically an overactive immune system going haywire and launching a full-frontal attack on the body’s own tissue.
I experience everything except heart difficulty at this stage. My other condition, Interstitial Lung Disease, is another rare disease often associated with Myositis.
Myositis is a group of similar diseases, each with some distinct features. Scientists have discovered that particular Antibodies are associated with and some are exclusive to Myositis. Testing for these antibodies can help to categorise patients into the various and indicate the likely severity of that subtype and likely prognosis for the patient.
I have tested positive for the AntiSRP antibody which is extremely rare and can be associated with more severe disease and poor prognosis.
SRP is a protein regulator. It is not specific to muscle tissue but is ubiquitously found in all protein processing cells. Many parts of the body can be affected when under attack from the immune system (AntiSRP).
According to sport group Myositis Support and Understanding, there are about 75,000 people in the United States who have a type of Myositis and the subtype associated with AntiSRP antibodies affects about 6500 people, so about 8%. Here in Australia there are only about 350 people known to have Myositis, so 8% of that would indicate there are about 28 people with the condition I have.
Diagnosis Mystery Flight
In my old life, a journey with much to discover and explore; and a mystery destination would have been an exciting proposition. The diagnostic mystery flight is anything but. Unfortunately, while the journey to diagnosis for a rare disease patient can be fascinating, it is often long and arduous – filled with false trails, dead ends and dashed hopes.
Holding on to hope is difficult; hope for some help, hope for a doctor who’ll listen, hope for some kind of treatment and probably unrealistic hope for a cure. Standing in the maelstrom of rare disease, hands holding tight as each grain of hope is eventually ripped from your grasp can become soul destroying. The only solution I have found for running out of hope is to keep filling my hands with new grains of hope. Keep looking. Keep asking. Question everything. If the answers are not enough, ask someone else. Keep going. Self-education and exploring through my own research has equipped me with the knowledge to ask the right questions and keeps the hope bank topped up.
I have been fighting for years to get diagnosed, and I’m still battling to access the life changing treatment I need. I have learnt a lot along the way about both the challenges of having a rare disease and the practicalities (or impracticalities) of managing multiple health providers and health systems. Many of which seem hell bent on not giving you access to your own health records.
Battling the disease itself is one thing, but the enormous toll that the diagnostic process takes is often the greater battle. Test after test, specialist after specialist and money hand over fist. who each deal while no one is there to consider
The most distressing part of the process is the waiting. Like sand slipping through an hourglass you can’t turn back, months and years are lost while the disease continues to wreak havoc on the body and soul.
This left me with no choice but to undertake my own detective work. I started listening to medical talks, researching symptoms and chasing new possibilities as various tests provided more clues. I pushed for tests that I believed I needed, and finally a breakthrough came when I tested positive for a very rare antibody called AntiSRP. Coupled with some other supportive tests and my clinical presentation, my neurologist determined a diagnosis but referred me on for treatment because he felt he did not have sufficient knowledge.
Unfortunately that put me back into limbo, having to start again with yet another doctor. A new doctor always seems to mean repeating a bunch of the tests I have already had. It feels like two steps forward three steps back. I was again having to try to find all my own research and attempting to educate another doctor who had not seen my particular very rare presentation.
In my case, the SRP protein being attacked is found in all protein processing cells in the body. Myopathies associated with SRP antibodies were originally thought to have a similar clinical presentation, however the literature now suggests the presentation of SRP associated myopathy can vary greatly. This makes it nearly impossible for any patient to tick all the “standard” diagnostic boxes.
While researching my condition, I stumbled on a ‘Netflix’ documentary series called Diagnosis. It was based on the long-running ‘New York Times Magazine’ column (also named Diagnosis) by Dr. Lisa Sanders that helps solve medical mysteries.
Dr Sanders was the inspiration behind the TV show “House”, where a multidisciplinary team works in unison to solve complex cases.
The series invokes the concept of crowdsourcing solutions by posting the case on a forum where interested physicians can engage and provide contributions to the thinking. This approach can save patients valuable time in getting an answer and starting treatment.
To me the idea of crowdsourcing – getting a bunch of specialists working concurrently instead of a linear and protracted approach made so much sense. I wondered if there really is anything like this available here in Australia. So I started looking.
That’s when I discovered Best Doctors. It turns out that many health insurance companies have a free “Expert Opinion” service tucked away in the background of their offerings. For insurance reasons I was initially weary, but I was also worn down and getting worse by the day.
By this stage I was more or less house bound. I had developed swallowing issues, choking and coughing with every attempt to eat or drink. After being a gourmet food writer I was now being counselled on eating mushy food, turning my drinks to goop with thickener and being invited to attend information sessions on the concept of 3D printed food as a way to improve life. Nothing could be more counter intuitive to a quality life for me.
With nothing to lose, I reached out to Best Doctors and had an appointment within a few days. With my written authority, their team set to work and did the rounds collecting all my medical tests, specialist letters etc and based on my results looked for a top international specialist.
I was pleasantly surprised when within only a few weeks from contacting them an email arrived in my inbox with their reply. I nervously opened the attachment to a detailed 12 page report by a highly regarded Harvard Professor.
He had reviewed all my tests, confirmed my diagnosis and provided a clear explanation for any unusual aspects of my particular presentation and cited many relevant papers. He urged immediate and aggressive treatment and provided detailed guidance on what therapies I need based on his extensive experience treating patients like me.
He was disturbed by the narrow definition being employed by my Australian doctors and expressed concern for the significant functional decline continue to experience. He counselled strongly on the need for acting quickly and the risks to me of delayed action.
He stated that it is of the utmost importance that ‘the fire be quenched’ to allow me to maintain what muscle mass and strength I still have.
I got to the end of that report and found my usual stoic strong chin was trembling. I quietly let the tears fall and allowed the relief to wash over me. I had finally been heard. Getting an informed opinion from someone highly experienced in diagnosing and treating this condition let me dare to hope again. Maybe now I had a chance to access treatment.
But as seems to be the way, this grain of hope has again been squashed. My local doctor has not taken on board the advice from a more senior and more experienced physician.
I made a further enquiry to the Harvard Professor to see whether he could shed any light on what might be holding my local doctor back from treating me. He said;
‘Quite frankly, I am baffled by the approach taken’.
He indicated it was not clear whether the condition is one that my rheumatologist does not encounter often or whether doctors have taken a defensive posture due to health plan rules in my jurisdiction.
Either way, I am again left waiting and trying to find a new way to access the treatment I need without sufficient support from our medical system.
In the last two years, I have watched as gradually more and more of my functionality has been lost. I am no longer able to stand or walk for more than about 10 minutes. My axial muscles are weakened, making it difficult to stand upright and exhausting hold up my head. I am never pain free. Simple tasks like standing up, doing my hair and getting dressed are now a daily struggle.
I have developed other potentially life threatening manifestations of the disease. Dysphagia means I have difficulty swallowing, putting me at risk of choking every time I eat or drink. Interstitial Lung Disease means even the few steps I can manage leave me breathless and coughing. I also now need night time breathing support.
My life has completely changed in the last two years. Meanwhile, doctors continue to disagree on treatment options and are seemingly blind to the continual devastation this disease is wreaking on my life. The longer nothing is done, the greater the likelihood of permanent damage and my chances of recovery diminish.
Imagining a different way
We as a country need to do better for rare disease patients. I dream of there one day being a National Centre for Diagnostics, where multidisciplinary teams work together to provide concurrent work ups, fast-tracked testing and differential diagnosis. Government funding would provide the time and resources to solve the more difficult medical mysteries and provide more timely access to the right care and treatment.
In the United States, there are a number of specialist Myositis Centres where patients suspected of having the condition can go for a full work up with all the necessary specialists. Why couldn’t we have some kind of international partnership with one of these centres?
That might be a distant dream. In the meantime, we need to encourage more multidisciplinary practice, encourage our doctors to reach out to international expertise on conditions less prevalent in Australia. We could consider enabling international telehealth options that allow international experts to treat and prescribe here in Australia for these sorts of very rare conditions.
I hope sharing my story might encourage other patients to be their own medical advocate and highlight that services like Best Doctors exist and may be able to help them. I hope people experiencing mystery illnesses are inspired to keep going, keep looking.
I hope any doctors reading this begin to consider their options for seeking international expertise and the impact complacency has on the lives of rare disease patients and their loved ones
I understand, given the unusual nature of my condition, that treatment could be a case of trial and error. I am not afraid of mistakes. I am afraid of doing nothing.
As someone with a rare disease I am facing a tough and challenging future, with many battles still ahead. I wish the battle to receive the care I need did not have to be one of them.
~ Georgie Bailey
22nd August 2022
* Georgie died on 31st August 2022, at Canberra Hospital, the same hospital that declined to treat her, from complications of muscle biopsy surgery, carried out 3 weeks earlier in Sydney, a procedure so she could finally get the treatment she so desperately needed. The day after she died we received the results, positive in all three seperate sites for what we together had suspected all along.
In June 2022 we found the wonderful doctor Dr Antonia Carroll, who Georgie described as “Astonishing”. Dr Carroll was confident she could solve the puzzle, and we felt she could have, however and very sadly, our Georgie’s body had deteriorated so much leaving very little to get through any complications.
We will love Georgie forever, then more xxoo
For enquiries please contact [email protected]
Immune – Mediated Necrotizing Myopathy
SRP-positive necrotising myopathy: takes more than just the muscles
Myositis Association Australia
Rare Voices Australia
Self Portrait – Georgie Bailey – Paris 2015