I am a 28-year-old, psychology graduate, who was diagnosed with congenital myasthenic syndrome (CMS) in 2012.

I have undergone an electromyogram (EMG), MRI scan and muscle biopsy at King's College Hospital, London, and tried a range of medications, such as Salbutamol, ephedrine, 3,4-DAP, and mycophenolate mofetil. However, I haven’t felt that any of them have made a significant difference… the side effects (trembling and eye twitching) have just been a nuisance!

Despite only being diagnosed seven years ago, I have only recently learnt more about CMS and the fact that it’s genetic. This has caused me to reflect on unexplained symptoms I’ve displayed over the years. I have very frequent chest and upper respiratory tract infections, droopy eyelids, difficulty with speaking (some days are worse than others), I tend to eat a soft diet as chewing and swallowing can be problematic, extreme fatigue, spasms in my fingers, neck stiffness, lifting very light objects/dropping things, and breathing difficulties leading to a tracheostomy. I have experienced waking up during surgery on multiple occasions; I haven’t been given enough anaesthetic to ‘knock me out’, but the drug used for paralysis has worked effectively thus disallowing me to alert anyone, and becoming very distressed.

Recently, I have found it a real struggle to shower above the waistline, wash/dry/straighten/tie my hair, drive long distances, carry anything that weighs more than a bag of sugar, do household chores etc. I have to rely on others for help – which is very frustrating at times, but I’m fortunate to have a good support network of friends and family. Having myasthenia on top of other chronic health conditions has exacerbated my anxiety, low mood and panic disorder. It’s scary when the professionals whom you look to for advice and reassurance aren’t entirely sure how CMS will impact you in the future.

‘I don’t live with myasthenia, myasthenia lives with me!’