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

Goal of 2019 – shouting “This is me!”

Happy New Year! The turbulent 2018 is over and a fresh chapter has begun. The first day of the year is the perfect time to take this blog in the new direction as discussed in …. I will still be blogging predominantly about my love of books, with a hint of Flamingo Paperie cards but also an insight into my wobbly life. Ever since I wrote my first post 6 years ago on my first ever blog The Ups and Downs of being Wobbly I have been anonymous – no photos of me, and I never used my name until very recently just my pseudonym, Wobblypip. Why?

Fear  – of people I know reading my thoughts, being laughed at or told I was crap.

But no more. This year I want to make a small difference to dystonia awareness using this blog and claim my words as my own. It is time to step out of the duvet and say “this is me”. I watched The Greatest Showman on Christmas day and loved it, particularly the powerful song This is me. It gave me the final push for this introduction post only 6 years late.

I am Katie – book blogger, writer, tea addict, lover of snuggly socks and wobbly person. I live in Yorkshire near the sea with my hubby, daughter and my dogs.

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This is me

My blogging journey began in a blog  documenting my wobbly life in 2013 as I wanted to raise awareness of DRD but this side slipped away when this blog was set up to support  Duvet Dwellers Book Club a book club for spoonies I founded with two others. I loved talking about books with others but chronic illness meant I could not commit to time needed to run it and there are some wonderful online book clubs to join. This blog remained but things are now coming back full circle with the aim of raising awareness, and making a difference.

I have a rare form of dystonia, dopa responsive dystonia or DRD. With the odds of having it as 1 in 2 million I would rather have won the lottery. Like people with Parkinson’s disease my brain does not produce enough dopamine to move properly. I rely on drugs to keep me moving, walking, talking and writing. They help a lot but I am still wobbly, slow and resemble a sloth at times. My mobility scooter is my trusted friend.

Awareness of dystonia in all its forms from writer’s cramp, cervical dystonia which affects the neck to the rare ones is important because it helps speed up diagnosis, raises funds for research to find a cure, better treatments and support for people with the condition. There is a high rate of loneliness in people with dystonia due to embarrassment and fear of ridicule. Muscles can contract and contort in some unimaginable ways that are impossible to do voluntarily. I am always in awe at the postures I find myself in.  Tremors can be hard to watch and when the voice is affected it communication is hampered. There can be accusations of being drunk so it can be easier to hide under the duvet.

 

dystonia text box

DRD text

When my dystonia is on form my hands claw to resemble an evil witch, my body and arms twist to resemble a teapot and my voice goes from stutter to silent. It is not an attractive look.

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Dystonia 

I hate the condition but without it I doubt I would have started blogging, it has introduced me to some amazing people and gives me time to read.

Last year I met the wonderful Jennifer Gilmour, a domestic abuse advocate. She is making a big difference for others with her blog and book by stepping out of the shadows and saying this is me and this is my story. Maybe I can do similar with my wobbly twisted life – if it helps one person my job is done.

Jenn and me

Jennifer Gilmour and me

Love

More info on dystonia can be found here