Living with a rare disease can be invalidating, painful, lonely, confusing and downright scary. Or at least, that has been my experience.
I had recently celebrated my 40th birthday. My husband and I were raising three young children aged 10, eight and four-years-old and I was enjoying a successful career in the pharmaceutical industry. It was early 2018 when I was diagnosed with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis. Four years earlier, I had started noticing some changes in my peripheral vision. I had put this down to tiredness with a newborn baby initially. But it didn’t go away so I saw my general practitioner (GP). She ordered a brain scan followed by a neurological consult and so began the gruelling process of trying to find out what was wrong with me. By the time I finally received my diagnosis, I had seen six different specialists across five disciplines in four years. I received two incorrect diagnoses along the way, undergone numerous magnetic resonance imaging (MRI) scans, computed tomography (CT) scans, a positron emission tomography (PET) scan, a bone scan, ultrasound investigation, nerve conduction studies, bone marrow biopsies, muscle biopsies, nerve biopsy, heart studies and so many blood tests that I have lost count.
I had pretty much convinced myself that I must be making up my illness. I was fairly sure I wasn’t feeling normal but the weight of medical evidence had me second guessing myself. Every test kept coming back as normal until my rheumatologist ordered blood tests for specific autoimmune disease markers. When I was diagnosed, I felt relieved. That’s probably an odd response to being told that you have a life-limiting disease that can’t be cured but I was overwhelmingly relieved that someone was able to put a name on the set of symptoms I was living with. I thought, “If the doctor can name it, he can fix it”. That was probably a little bit simplistic of me because it certainly hasn’t turned out that way.
In the early days of treatment, I saw my specialist once a month. Each month I tried a different medication. I had blood taken for monitoring purposes, and often there was another diagnostic test to go through too. This became a cycle that revolved around the hope that the new medication would work; anxiety about having to go to test appointments; exhaustion from the worry about the tests; and then more nerves waiting for the results. I was unbearably irritable for the week before I got any of my results.
The heavy doses of painkillers, mixed with steroids and other medications made me so irritable. I was often angry for no reason. I tried working through my first round of treatment but I got some complications in the form of an infection post treatment. The doctor told me I had to stop work. I had previously been the main income earner for our family and gained so much of my sense of self from work. The absence of purpose, lack of company and constant worry about what might happen to me made things hard at home. I worried constantly about how we were going to afford things now that I wasn’t working. My husband had a choice to make. He could work full time and earn money to maintain our lifestyle, or we could go without some things and he could stay at home and care for our family. He struck a compromise, working two days per week and prioritising our family’s wellbeing over everything else.
None of the medications prescribed controlled my disease. After several months, my doctor began treatment with biologic medicines. That failed. We tried again. Same result. Then came six months of chemotherapy treatment. In January 2020, the chemotherapy treatment stopped. Despite everything I had been through, my blood markers remained high, indicating that treatment had again failed. I had now failed all known treatment for my disease. A friend said, upon being told of the treatment failure, “Kath, it’s probably the first time in your life you have failed at anything”.
Being a patient in the oncology ward for a non-oncological condition was really hard. The nurses had not heard of my condition. Oncology nurses are trained to understand cancer and there wasn’t a dedicated non-oncology nurse or support person available. On my first visit, I was given information for Non-Hodgkins Lymphoma (NHL). I didn’t have NHL but the medicine used to treat me was the same so the fact sheet was useful in a way. The nurse who was putting in my cannula said, “What is it that you have? I don’t think I have ever had anyone in here with that.” I have become very used to explaining ANCA associated vasculitis to medical professionals. Some doctors are familiar with it and don’t need the explanation but they are the minority. I have taken to having scanned copies of tests and correspondence from my treating doctors stored on my phone. I find it helps, especially if I am admitted in an emergency and need to quickly share my medical history.
During the 18 months I spent in and out of the Oncology Day Unit, I often watched the McGrath nurse come in and sit with the breast care patients. I overheard so many beautiful, funny and empathetic conversations between nurse and patient. I ached for the same support. For some recognition of my disease and its associated suffering. I felt so invisible.
Our then 10-year-old was very frightened by what was happening to me. I no longer looked like her mummy. Some of the medication had made me puffy in the face. The chemo had made my hair thin and clump in places. I was often a funny greeny yellow colour. I vomited and slept a lot. Our daughter wrote an essay last year for her Year 7 English project in which she describes watching her eight-year-old sister cry most days at school about what might happen to Mum. It turns out her little sister cried at school because she didn’t want to cry at home and make Dad sad. The same daughter worries if I am late home. And she has good reason to. There was the time I went in for chemo and came home four days later having been admitted to the coronary care unit after experiencing a racing heart during treatment. There was the time she went on a playdate and had to stay for dinner because I had been admitted to hospital with extreme chest pain. And the day after her dad’s birthday when she was met at the school gate by her aunt to the news that Dad was in the hospital with Mum, again, because Mum was having breathing difficulties. It was the small voice that asked, “What do I do if it happens when I am home with you?” that made me realise I needed to talk to the kids about a plan for unforeseen medical events involving Mum. Both girls now know to phone 000 and have a script written for what to tell the person who answers their call. Our son is still a bit young to have this responsibility but in time we will teach him too.
One of the hardest things about being ill has been realising the impact my disease has had on my children. I feel incredibly guilty that the children have experienced distress because of me. They haven’t been able to invite their friends for sleepovers or have playdates at home because I am always too tired or they were embarrassed about how I looked during treatment. The girls probably needed help in explaining to their friends what was wrong with their mum but I didn’t know what to say or how to guide them. I didn’t even know what to say to my own friends.
Trying to explain that I was having chemo but not for cancer became too hard. I had tried but the responses were not what I had hoped for. “But you look so well,” said one friend. I began to let phone calls go through to voicemail. I hardly ever listened to the messages left or returned calls. I stopped making eye contact with people. Some days I was too tired to shower or brush my teeth. I had convinced myself that this was coping. That this was the way to survive.
I wouldn’t even let my husband come into the oncology ward with me. I made my own way to treatment on the train. I let myself be collected from the parking area out the front of the hospital once my infusion was done. I really didn’t know how to acknowledge what was happening to me so, I just pushed away the feelings and kept going. My cherished best friend was having none of this. She jumped right into a bold conversation. “What’s going on with you?” it began and ended with her inviting herself to keep me company during my chemotherapy. I accepted her kindness, tried not to be so angry and eventually, I let my husband come to my appointments and treatments. I even let the children come into the oncology ward at the end of treatment to collect me. My older daughter’s reaction was, “Is that all it is?” and the younger one took hold of my hand and earnestly said, “Mummy, you must be really sick to be here.” It was late in the day and there were only two other patients in the ward at the time. Still, the significance of being in this place was not lost on her.
Trying to get recognition for my illness was difficult. There was the neurologist who kindly said, “Well, you are raising three small children” when I complained about being exhausted to a point where I couldn’t raise my arms to brush my hair. There was a medical fellow who put my fatigue down to depression. One of the hardest comments to hear came from a specialist who said, “You’d rather it was multiple sclerosis, then at least you’d know what’s ahead of you”. At that, my husband shot me a look that said, “We are in uncharted medical territory now, that can’t be good.”
As much as I faced medical dismissal, there were those who cared for me well. My own GP would regularly assure me that I wasn’t crazy. I would openly question whether I had ‘made all this up’ during our consultations. There seemed to be no reason for my limited vision, my disturbed sleep, my lack of coordination, my failing mind, the fact that I could draw my skeleton everyday based on the pain in my bones, or the pins and needles that attacked only the right hand side of my skull and right leg. One of my beacons of hope came from a specialist who simply put words to what my husband and I knew to be true, “No one spends this amount of time or money if something isn’t wrong”.
There’s no polite way of addressing this. Having a rare disease is expensive. The Government rebates offered on medical services don’t extend to cover all rare diseases. The funding is limited to diseases like cancer, diabetes and musculoskeletal disorders. With over 7,000 rare diseases, it would be hard to list all of these conditions or allocate them a Medical Benefits Service (MBS) item number. My comment isn’t made to criticise the Government’s health policies. It’s just another frustrating thing about rare diseases. There are so many of them but they occur at such low levels they often get overlooked.
Similarly, the Pharmaceutical Benefits Scheme (PBS) is designed to subsidise the cost of medicines for Australians. The Government pays part of the medication cost for certain types of illnesses and diseases. Whether a medication receives PBS subsidy is directly linked to the pharmaceutical manufacturer’s submission. The submission must demonstrate the medication has clinical benefit in certain diseases, age groups, co-morbidities etc. Rare diseases don’t often make the list because they aren’t part of the clinical trials. As a result, individuals with rare diseases must pay the full cost of the medications.
Additionally, rare diseases often require a number of different specialist consultations. This not only adds to the cost, but it takes time to get in to see these doctors which delays diagnosis and treatment. It also means that while you are waiting the disease progresses, damaging your body more and more.
Knowing that good health is important, I had taken out life-insurance, complete with trauma cover way back in 2007. I believed that I had purchased insurance that would provide me money to cover the costs of medical tests and treatment in the event I became critically ill. But when it came time for me to claim against my policy, my claim for trauma payment was dismissed. Despite having chemotherapy, despite being unable to work, I wasn’t covered under the terms of the policy. I fought the decision through the financial ombudsman and lost.
The toll of continually putting on a brave face, of hiding from the truth and resisting the reality of my disease was high. I think I paid for this in the way my relationships broke down. It’s hard to maintain a genuine connection with others when you are hiding what’s happening in your life. I felt my friendships slide and even my marriage suffered because there was a lot of not talking about what was going on from both of us.
While there are few Australians who have lived or are living with the same disease as me, there are hundreds of different rare diseases impacting individuals, their partners, their families and their friends in a similar way to me. It is important to recognise the challenges faced by the rare disease community are not limited to the individual with the disease. They also extend to the partner, children and families of those individuals. Many of those challenges overlap with more common diseases. In my experience, the fact that my chemotherapy was not for cancer shut me out of support and services that could have benefited my children and husband, and ultimately made my experience of chemotherapy easier.
While I have written about the difficulties of living with a rare disease, I must acknowledge it has given me blessings too. I have time with my family. I have taught myself to have the courage to love my children wholeheartedly and to not fear what might happen next because nobody knows what that might be. Today, I share my story to help drive recognition of the need for equitable access to diagnosis, treatment, and support for all patients, regardless of whether their disease is rare or not.
Please check the Rare Disease page(s) for related Support Organisation(s)
Anti-neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis