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Rare Disease Day

Living With Myasthenia Gravis.

By thefineideayoucrave

Rare Disease Day is annually celebrated on the last day of February and this year is no different. This is the first year I am eligible – for want of a better word -  to be considered as someone with a rare disease and I would like to take the opportunity to talk about my condition and raise awareness for it.

In June 2016, I was diagnosed with generalised seropositive Myasthenia Gravis {often simply referred to as Myasthenia and I will call it MG} and this is an autoimmune neurological disorder characterised by muscle weakness and fatigability – the key in diagnosing MG is that the weakness worsens with repetitive actions, weather fluctuations, psychological distress and infections and improves with rest. The term originates from Greek and Latin and literally means "grave muscle weakness". The main muscles that are affected are voluntary ones – ocular {eyes), bulbar {swallowing/chewing/speech}, extremities {arms/hands/legs}, neck and respiratory – and so symptoms of the condition include drooping eyelids, double vision, slurred or nasal speech, having difficulty swallowing and chewing, weakened hands and arms, having difficulty keeping your head up and so on.

The basic science behind is that there is a problem with the neuromuscular junction which means that muscles can't contract properly and so tire easily. The problem is usually that the body attacks itself and produces antibodies which distort or ruin the acetylcholine receptors, which prevents nerve impulses from initiating muscle contractions. MG is sometimes referred to the "snowflake disease" as it affects each person differently.

There are different types of MG – Generalised Myasthenia, Ocular Myasthenia {this is diagnosed after two years of showing simply ocular myasthenic symptoms}, Congenital myasthenia {the difference is that this is inherited and not an autoimmune disorder} and Lambert-Eaton Myasthenia – also includes difficulties in controlling automatic body functions and about 50% of cases are linked to middle-aged people with lung – and sometimes other forms of – cancer. Neonatal Myasthenia may also occur in some babies who are breastfed by mothers who have one of the myasthenias although symptoms will fade after a few weeks.

The condition is extremely rare: it affects about 1 in 7000 people in the UK and about 1/250,000 in Europe. MG affects both males and females, mainly females before the age of 40 and males and females equally after the age of 50. Juvenile Myasthenia – anyone under 18 with MG - is even rarer.

MG, if not detected and treated in time, can be fatal. Unfortunately, it is very hard to diagnose – firstly because it is so rare and second because symptoms can take months and years to develop and become regularly noticed. A Myasthenic Crisis is what occurs when the respiratory muscles become so weak that it becomes hard to breathe and ventilation is required – this is what happened to me and led to my diagnosis. In short, I was rushed to hospital after I pretty much stopped breathing, and it was touch and go for a while, but I made it! Yay me! Last year I was in hospital for about two months, and in that time I was intubated, failed extubation twice, had a tracheostomy put in, had about a million scans {my least favourite being an MRI} and a really weird electrochemical test thing which was deeply uncomfortable and freaky {this was when they finally figured out that it might be MG and it was testing my muscle responses or something – they sent like electric shocks through my muscles and well, it didn't really hurt, but it's not something I would recommend. Really strange}.

But anyway – there isn't a cure for MG, but it can be treated and controlled with various medications, including immunosupressants and cholinterase inhibitors and also you have to take a number of medications to counteract the side-effects of the original medications. {I am now a pill-popping expert!} If you are admitted to hospital with a sudden flare, you can also have a blood exchange {plasmapheresis} and/or immunoglobulin therapy, both of which are short-term treatments which remove the antibodies and can give you a chance to rebuild your strength. People with MG sometimes have a thymoma – a {usually} non-cancerous tumour on the thymus gland, and so may have a thymectomy – an operation to remove the gland. This can lead to remission. I had mine last November – I didn't have a thymoma, but I did have thymic hyperplasia, which is basically an enlargement of the thymus gland.

For me, living with MG has just been a sudden rush of hospitals and medications and I've not really had time to process what it means for my future and stuff. I had another crisis just a few weeks ago and ended up back in hospital – and it just seems like a mad sprint of time where I don't even have time to think {and breathe, quite literally!}. In hindsight, I had been experiencing symptoms for at least a couple of years before my diagnosis, and they did get increasingly worse in the months leading to my initial crisis, but you never think that you're that ill, do you? You never think it's going to be you until it does happen and then you have to learn to adapt and deal with it. I know I'm sick and will be for quite some time – remission doesn't seem likely with my recent relapse {and although my neurologist had begun to taper my medication, it's all been increased again and we are back to the start} and the condition limits my ability to do normal things like drive or on some days, just getting out of bed. That sucks. Fortunately, although it's rare, there are some very good support groups and websites online, which is really nice – to be able to connect with people who understand.

There are also regular trials and studies being done into MG, which is apt, as the theme for this year's Rare Disease Day is Research. {"With research, possibilities are limitless"}. Many people with rare conditions, often go to countless doctors and appointments only to be told there is nothing wrong with them and this can be incredibly frustrating. People are also told that doctors may have never heard of their disease, or told there is no cure or treatment is not effective, but it's the only option – and other scary things like that. This is why research is important, it can lead to developments in treatment – and perhaps even a cure! It is crucial to provide solutions and answers for many suffering individuals – and so, on the tenth anniversary of Rare Disease Day, thousands of people worldwide will get together for a number of activities and events to promote and demand for more research on rare diseases, Funds have increased in the last few decades, but more can be done – in universities, for students, companies, policy makers and clinicians – to give everyone to a chance to be able to provide what people with rare diseases need the most – hope.

Thanks a lot for reading and I hope this was informative and interesting. If you have a rare disease or want to support people who do, there is loads of stuff you can do on social media to show you care. You can find more information here: (Link in the comments) I wish you all a good day!

http://www.rarediseaseday.org/