Sophie’s Story

I never could have believed that by age 21, I would have survived two near death experiences and developed a rare neuromuscular junction disease.

I was a healthy child and teenager, but while on a backpacking tour around Europe in 2015, I developed a blood clot which made its way to my lungs resulting in a pulmonary embolism. I’d had a cough for a week (which was not unusual on a non-stop travel adventure with more than 35 other people packed into a coach) but so had everyone else travelling with me. And so, for a while, I tried to ignore the hacking cough and blood I was bringing up. I figured I was just coughing too hard, and it would pass soon.

At the end of the tour, I checked into a hostel in London with some friends and climbed a narrow ladder to the top bunk of a three-tiered bed in a six-person dorm. I remember waking in the early hours of the following morning clammy and out of breath, having heard a voice in my dreams telling me to get to a hospital as soon as I could. I wondered whether this was my faith playing a role or whether it was an innate human connection between my body and mind trying to keep me alive. I could barely move my body and my arms and legs felt like iron weights tethering me to the bunk. My chest felt heavy and full, with each breath like pushing a weight off my torso. Eventually, others in my dorm room woke and helped me down from the top bunk, out of the hostel and into a black cab that took me to a friend of my mum’s, who then drove me to hospital. I was immediately given blood thinning drugs and monitored for four weeks. My flight home to Australia was delayed as it was not safe for me to fly, given plane travel can often lead to further complications of deep vein thrombosis. I flew home with a nurse on the flight with me, administering medications and ensuring I moved my arms and legs every 30 minutes.

Several months after returning home, I caught a virus and was very unwell for a couple of weeks. Near the end of the infection, I started to experience strange neurological symptoms. After being unwell, I was excited to go to the beach with my then boyfriend, but experienced multiple falls during our date. He then took me to my mum’s house for dinner and upon getting up from the table after our meal, I felt as though the ground was moving below me. I could not walk in a straight line; the house seemed to be spinning around me and everything I looked at had developed a halo of fuzziness. I decided I wasn’t well enough to go home to my apartment that night, so I stayed the night at my parents’ house. Just before dawn I awoke to find my left eyelid had drooped and I was now seeing double. I crawled down the corridor of my parents’ home to ask one of them to drive me to hospital, unable to walk because I could not balance my body.

Over the coming days in hospital, my case perplexed doctors. I was diagnosed with a migraine, then tested for hormone related neuropathy, Guillain-Barre Syndrome and myasthenia gravis. But all the tests came back normal. Two days after being admitted, I awoke in the middle of the night and realised I had lost my ability to speak. I opened my mouth and made the sounds to construct words, but only nasal-sounding noises came out. I could not pronounce most consonants, unable to get my mouth, tongue and palate to work in unison. It was as though everything had been slowed down and weakened dramatically. By the next day, I could not swallow anything.

I was admitted to the intensive care unit where I received medicines that helped me graduate to the neurology ward. I then spent a month in a rehabilitation hospital. Four months after first developing symptoms, they finally eased and I returned to a new normal. My treating neurologist was never entirely sure of what had caused these debilitating symptoms and so I returned to my life and tried to forget the trauma of it all.

In the months following my hospital stay, I had periods of eye muscle weakness, blurred and double vision, speech issues and swallowing challenges. Normally this would happen when I was tired or at the end of the day and improved with rest.

A year later though I started to develop muscle weakness in my arms, neck and legs as well. I saw many doctors and specialists trying to get help, but no one could work out what was going on. Doctors suggested diagnoses of chronic fatigue, conversion disorder, depression, postural orthostatic tachycardia syndrome and more but none of the medicines or physiotherapy I tried seemed to make a difference. I felt hopeless, alone and as though no one could help me. I knew something was wrong but felt as though I had been left to deal with it all on my own. The weakness progressed and started to really derail my life. During flare-ups I started using a walking stick and eventually, a wheelchair. I stopped going out at  night for dinners with friends, to bars and pubs like other 20-somethings, anywhere I’d need to walk for extended periods like shopping centres or hikes, or even driving after dinner-time because of my symptoms.

In late 2021, almost seven years after first developing symptoms, I saw a new neurologist who diagnosed me with a neuromuscular junction disorder – most likely seronegative myasthenia gravis. This is a challenging diagnosis as seronegative patients are not able to have their diagnosis confirmed with blood tests like those who are seropositive. This doesn’t mean they don’t have the disease or disorder. It simply means medicine and science has not developed a blood test to confirm these cases. But as my neurologist has said, a clinical diagnosis is more important than what a blood test result shows. Diagnosis of rare diseases needs to be a mixture of art and science because the current medical data and understanding is just the tip of the iceberg when it comes to our knowledge of the human body.

Now, 28, I’ve lived with ill health for almost my entire 20s. I’ve lost and grieved many experiences, but I’ve also learned so much more about myself and what I want from life. I’ve met wonderful friends in the chronically ill community, and I’ve found my voice as a writer. And so, while it’s so incredibly hard to live in a sick body, I feel both lucky and blessed to be alive.