The story of Tarsha
From June 2018 I realised something was “just not right”. I was overwhelmed with the feeling that something was wrong even though I couldn’t pinpoint what this was at the time. Subtle, seemingly unrelated, changes in my life left me with this gut feeling that something inside me was not the way it was supposed to be. I remember calling my boyfriend over the phone one night and crying to him saying I didn’t know what was wrong with me, but just that I didn’t feel like my usual self. I told him I had an awful feeling about the road ahead. In about July-October 2018, my hands starting to shake while public speaking and I became very clumsy. Soon after this my tremors worsened to the point that my hands were shaking all the time. I remember googling my symptoms and suggesting to my mother that I had Multiple Sclerosis, Parkinson’s Disease, Meningococcal or Alien Hand Syndrome, some sort of premature aging disease; the list goes on.
In Oct 2018 I went to the doctor for a sore foot and he said I should just rest and that he didn’t think it was serious. My mother was in the appointment with me and mentioned to the doctor about my hand shaking. I played it cool and said it just happens when I’m nervous or stressed, but when the doctor saw my shaking he decided it did not look like an anxiety-based tremor. He made a last minute decision to order an MRI of my brain. When the results of the MRI came back is when I realised that I was right to trust my own intuition. Cause boy was I right that something was wrong.
The abnormality shown in my MRI report and scans had doctors stumped. Roughly 3 neurologists, 4 radiologists and a nuclear medicine specialist had not seen a scan like mine ever before. All these professionals had been doctors for a very long time ranging from 15 to approx. 50 years. It was only after about 8 vials of blood were taken from my body that one of these doctors had some idea of what it might be. I travelled overseas in December 2018 after advice to go out and live as I normally would because doctors still didn’t have a diagnosis for me. I changed my flight back to Australia from the USA in January 2019 after a rapid deterioration in my health while I was away. My boyfriend was helping me cut my food, get dressed, walk upstairs and even get in and out of bed at the time. My speech was becoming slurred and difficult to understand, worsening with tiredness. I was finding it very difficult to swallow and the tremors were moving throughout my body. I needed to get home and I needed to get help. After returning back to Australia and finding a different, new, knowledgeable neurologist in Melbourne (thanks to my Mothers lengthy research and help from people in the Wilson’s Disease Facebook support group that my Father suggested to join) I was officially diagnosed with a rare genetic disease called Wilson’s Disease. From the first MRI I had done – it was a 3-month search for diagnosis.
Wilson’s Disease is incurable (albeit manageable on a case by case basis with daily lifelong medication adherence). Wilson’s Disease is caused by a genetic mutation present at birth that results in an inability to metabolise the mineral copper. This causes copper to build up overtime in the liver, brain, eyes and/or kidneys. In my case, the copper has built up predominantly in my brain and eyes. MRI reports show damage to the basal ganglia in my brain and Keiser-Fleischer Rings (KF rings) in my eyes (rings of copper around the iris). This disease is fatal if not treated promptly and carefully. Symptoms vary greatly depending on what organs are affected. Neurological symptoms I present with include wing-beating tremor , (irregular tremor that is most prominent when the limbs are held outstretched), somewhat asymmetric parkinsonism (reduced coordination of fingers, wrist, and arm in fine motor control), axial dystonia, (abnormal posture and muscle tone in the midline of the body , limb dystonia (abnormal posture/muscle spasms in limbs) including striatal toe (extension of my left big toe), slurred hypophonic dysarthria (soft, slow and slurred speech that can be difficult to understand), pathognomonic Kayser-Fleischer rings (copper deposition in the eyes), problems swallowing and drooling, muscle cramps and some subtle behavioural change with increased impulsivity and laughing. The change in my speech is one of the hardest symptoms to deal with. It’s like you are facing a daily battle to communicate. Talking should be automatic. But for me, now with slurred and slow speech, I feel like I am trapped inside my own head and getting words out to talk is a constant fight.
Wilson’s Disease shares many relatively common symptoms with other diseases, often leading to misdiagnosis and delaying treatment. This consequentially disables the person’s quality of life due to life threatening and degenerative aspects of this disease. Early treatment is vital as the longer the copper poisoning continues, the harder it is to treat. This disease is quite rare in Australia due to the gene pool, with estimates of prevalence in Australia well below the estimated worldwide prevalence of 1 case per 30,000-40,000 population.
My diagnosis has led to my sister being tested for the disease as it is genetic. She has consequently also received a diagnosis of the disease. A relative of my family, aged 9, had doctors stumped for a while with trouble with his liver, and he is now in acute liver failure. After they learnt about me and my sister’s diagnosis, this got the ball rolling to find a diagnosis for him. He too is now diagnosed with Wilson’s Disease after constantly being left without answers. This is common to all rare disease patients. They often lead their own journey to diagnosis and often tell their own doctors what to do to manage them. The story of my sister and relative being diagnosed with Wilson’s disease proceeding me, after becoming aware on it, proves what awareness can do. Awareness can save lives.
The drug treatments used for Wilson’s Disease is very dangerous. Because I present with neurological symptoms there is a risk of neurological worsening when taking chelating agents (the drugs used to treat the disease). There are two chelating agents used to treat Wilson’s disease, Trientine and Penicillamine. Trientine is generally tolerated more by patients causing less side effects in contrast to Penicillamine but Trientine is not available in Australia. Both drugs however prove an unsafe way to treat the disease but so far, they are the only options I have. I started treatment on the 5th of February 2019 with Trientine, which was imported from overseas. It was applied through by the special access scheme (SAS) (a scheme used to provide for the importation and supply of an unapproved therapeutic good for a single patient). My case was argued that because I deteriorated so quickly, I needed the drug that acts quicker (Trientine) because it may have proved a little too late for me to take Penicillamine. The doctors believed that Penicillamine was more dangerous and there was an increased likelihood of permanent brain damage if I was to take this drug. No two Wilson’s Disease patients are the same and the disease and treatment affects everyone differently.
I have no idea to how to fix this problem between the gap in access to better drugs that seem to be tolerated by patients more and do not cause neurological worsening or nasty side effects. I have no idea how to improve the percentage of health professionals recognising this disease and promptly starting treatment the right way. I don’t know how to address the gap in research on treatment effectiveness for Wilson’s Disease, but I have an idea of where to start. Awareness of Wilson Disease is the start. Awareness’ starts NOW.
If there’s one thing that’s kept me going throughout this journey so far is laughter.What else can you do when you have been diagnosed with a rare disease other then try to make a positive from laughter, make a positive out of the bad hand you have been dealt. Why not make the most of it? Why not joke and tell people that since your diagnosis, you poop out big chunks of shiny copper. Why not reach out to hold a hand of a friend and then say “Hey you know the disease I have is contagious by touch”…then get a kick out of their reaction. Why not ask your best friends Mum to do wheelies with you when you’re in a wheelchair at the airport. The more you make people laugh the more this energy radiates back to you. The more I smile and act positive around others the more they will act this way in front of me. Constantly creating laughter and positive energy makes me feel more unblemished and brighter on the inside even though I know my own body is in a crisis. It makes the load seem lighter. By making others laugh you end up creating your own form of medicine.
The pot of gold at the end of my rainbow now is now longer gold, it’s a big pot of unwanted and silly copper. But I have faith that soon it will turn back to gold. If I don’t have hope, then what do I have? You can’t change the path life has chosen for you, so all you can do is keep walking down it with determination, bringing laughter and hope with you along the way. Look at things form a different perspective. You can’t have rainbow without the rain. J
-Tarsha
Age 21. From Melbourne, Australia