Rare disease day; The Realities of Vasculitis and Dystonia

10 years ago, I was hooked up to a drip having chemo after being diagnosed with cerebral vasculitis. Three years later I added a rare form of dystonia called dopa-responsive dystonia (DRD) to my medical records. Both are rare diseases and both were only diagnosed after years of GP visits and finally finding a consultant who listened and looked outside the box. Both times I felt relief rather than fear as I had an explanation of what was going on rather than being fobbed off with the line “it’s all in your head”. Perversely it was but not in the way that was meant when those hateful words were uttered. Both times I thought treatment would cure me and I would get my old life back; both times I was wrong.

dystonia text box

Cerebral vasculitis affects one in a million people while DRD affects one in two million. With odds like that I would rather have won the lottery. Instead these conditions were like a bomb going off in my life. In one swoop I lost my beloved library career, friendships and my mobility. Gone were the days of long walks in the countryside with my dogs, and browsing in shops alone (I really miss that. The joy of being independent, spontaneous and being ALONE). Instead I see four walls and the duvet far more than I should. Thank goodness for books, the internet which helped find my new friends, and my family.

Rare diseases do not just affect the diagnosed person; it has devastating effects on the whole family and friends. Husbands and children become carers, jobs are lost, education is affected and relationships are destroyed. Support is hard to find but social media becomes a lifeline.

The Charities

Luckily, when I was diagnosed with vasculitis, Susan and John Mills took over the vasculitis charity, Vasculitis UK. They transformed it from a small charity and basic website offering information to a go to place for patients and doctors  worldwide. Not only do they offer individual support they have increased awareness with medics, have conferences and fought for new treatments and research. They are both phenomenal.

The Dystonia Society has supported me on my journey but like many charities in recent years, funding has been cut which has had a big impact on their services. Despite their tireless efforts to raise awareness of dystonia,  DRD remains a page on the screen. Warriors of Dystonia has announced an exciting project to help dystonia awareness and support the dystonia charities. More info can be found here.

The best thing anyone can do is help is to raise awareness of these rare conditions and  charities that support them. Share tweets and posts. This allows people to find them and fund raise. This is why Rare Disease Day is so important because together the small charities are stronger. Awareness helps improve diagnosis, support and research.

Uncertain times ahead

Rare diseases in UK have an uncertain future. With only a small number of patients with each disease ,specialists are hard to find and keep. We rely on the cooperation of other countries and research. Leaving Europe has already impacted on ongoing and future research, grants and medication availability. What will happen next who knows?

There are always positives

It’s not all gloom. My life has changed but I have a new appreciation for the small things, family and friends.  I am grateful for my meds and having the movement they offer. The friends I have are the best- they have seen me at my worst and stuck around. I have time to follow my love for reading and I have rediscovered my old passion – writing. This has brought new friends and new opportunities. Maybe one day it will offer a new career.

Thanks for reading such a long post

Love

P.S Its the last day to enter RNA 60 giveaway to win 60 books. Click here for more info and to enter. Good luck!

The Complicated Business of Talking with Dystonia

The Complicated Business of Talking

Following my last post and the goal to reveal snippets of life with living with dystonia it felt apt to share the first ever post I made on my old The Ups and Downs of being Wobbly in 2013. It only feels like yesterday.

Dopa-responsive dystonia affects all my muscles now including my voice.

The Complicated Business of Talking

September 2013

I never realised how complicated talking and holding a conversation was until it began to go pear-shaped. To talk to someone many things have to occur:

1, you need to listen and remember what the person is saying
2, you need to think of an answer and the words you wish to use to express it
3, send these words to your voice box, tongue and muscles in your mouth
4, the voice box has to do what voice boxes do and your muscles have to co-ordinate themselves so the words come out.

If any of these stages falter the conversation can become tiring, difficult, frustrating and bizarre. Sometimes only one or two stages of the above partially or completely fail so I can work round it. Other times nothing will work so it’s easier to keep my mouth shut.

I can ask my family multiple times the same question before I will remember it. They must get sick of me asking 5 times whether they would like a cup of tea before I can remember it long enough to get to the kitchen. I would definitely be useless as a waitress. Telephones and having conversations in supermarkets are the worst. I think my brain decides that holding the phone and having a conversation in a noisy place is too hard and it prefers to go on strike.

There are times I know what I want to say. I can even visualise it but the word refuses to come. Good job my family are good at listening to convoluted explanations when a simple sentence would have done. Why say “it’s on the table” when you can say ” it’s on the thing in the kitchen. We sit at it for dinner”. Gestures are good too. My daughter will win at a games of charades with the practise she gets.

Other times, the words are there but trying to get my tongue, voice box and muscles in my mouth to work together is impossible over the stupidist words. Why is it so hard to say peas or beans or yes? At least the long explanations can resolve that obstacle with “green round things” or “red round things”. Again, charades work or you can play a game of fill in the blanks of a sentences. For example, “Would you ____ a cup of ____ ?

If all else fails, you can just be quiet and nod in the right places.

I am so lucky I have a great family who accepts our new way of communicating and they are becoming very good at it. I am lucky I have my trusted yellow ones (Sinemet) which gives my brain a kick start so I can have periods of the day when talking is easy and understandable. In these brief periods, I can do the phone calls I need to make and talk to friends when they visit. I guess, however tiring, difficult and frustrating talking can be, it can make life different and more interesting.

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Green Rounds Things

Love

The Twists and Turns of Dystonia

September is Dystonia Awareness month so it seems fitting to review  3 books about the condition. This post originally appeared on blog Books, Tea and Snuggly Socks

When I was first diagnosed, as a bookworm, my  instinct was to find a book so I could find out more about this neurological condition. Google is great for many things but I needed words from people with the condition, to understand more and learn how to live with it. To my dismay, there were textbooks with prices beyond my bank balance but no sign of the books I craved, despite the condition being the third most common movement disorder and it affects at least  70, 000 people in the UK.  Roll on a few years I have found these.

A Twisted Fate My Life with Dystonia by Brenda Currey Lewis

A Twisted Fate

I stumbled across A Twisted Fate on Twitter and I am so glad I did. It has become one of my firm favourites in my Kindle library.

Written to spread much needed awareness of dystonia, Brenda Currey Lewis gives an honest, down to earth account of her life with generalised dystonia which began in childhood as well as a clear overview on what dystonia is.  Her story gives an insight into life with the condition and  shows how dystonia affects all parts of life including the lives of those around you. There were so many times I could relate to her experiences and I am glad my dystonia waited until I was older to surface in the 2000s. The writing style allows her strong character to come through and I imagine she would be amazing to talk to over a cup of tea.

I would recommend this easy to read, enlightening book to everyone who wants to find out more about the condition.

Diagnosis Dystonia by Tom Seaman

diagnosis dystonia pic

This was the book I wished I had found as I wobbled out of my neurologist’s room with a diagnosis. Diagnosis Dystonia covers a range of topics a newly diagnosed person needs to know, as well as information for those who have had the condition for a while. It is a book which is obviously written  with care and consideration of what the reader will need. Part memoir, describing his own journey with cervical dystonia and part guide to this condition, it delves into the physical and emotional side as well as different types, treatments, daily living and gaining support from others. Tom Seaman has written a book that gives an insight into the condition and shows ways to live with dystonia. It tells you there will be bad days but there are ways forward, to adapt and live your life. I have a rare form of dystonia (DRD) and there are parts that are not relevant but it doesn’t matter. There is something for everyone in this book. It can be read from cover to cover or dipped into when required. If I had this book when my own wobbly journey began it will look well-read with it opening naturally at certain chapters by now.

For those with the condition, it is a book of hope, determination and gives an insight into the world of dystonia so you can help yourself be your own advocate. For others, it gives you an awareness of the condition with all its ups and downs so you gain an understanding of the condition and support people may need.

Tom Seaman works hard to spread awareness via his blog

Misdiagnosed by Jean Sharon Abbott

misdiagnosed book

I have a rare form of dystonia – dopa responsive dystonia (DRD) which affects approx 1 in 2 million people. I have followed Jean Sharon Abbott on her blog Jean Sharon Abbott as she documents her life with this condition. I was excited to discover she was writing her memoir.

Misdiagnosed follows her life from childhood with the diagnosis of cerebral palsy  to when she was given the correct diagnosis of DRD. Unlike some dystonias, DRD can be treated with a drug commonly given to those with Parkinson’s disease. This small, yellow pill has the ability to transform lives. It can be the difference between  being in a wheelchair to climbing mountains. This positive book shows her strength and determination, the ups and downs of living with dystonia and appreciating the small things in life many people overlook.  It also highlights the need for awareness of dystonia so correct diagnosis can be given.

Jean Sharon Abbott’s has appeared on TV shows, written about in newspapers and magazines worldwide. Since her story has been told, others have been given the correct diagnosis so they are also living a life they never thought they would.

 

Useful links:

The Dystonia Society UK

Dystonia Medical Research Foundation

Michael J Fox Foundation