dystonia

Dopa responsive dystonia – a snowflake condition

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Read  the majority of literature on this rare form of dystonia and it seems very cut and dry. You have dopa responsive dystonia, if  symptoms  are seen from a young age and when a low dose of  Sinemet is taken, a miracle occurs. Suddenly everything is resolved and normal life  resumes, as long as the medication is taken.When I took my first yellow one I was expecting to cartwheel down the lane half an hour later.
Scratch the surface and you discover, even  for those who have the classic form, life isn’t that simple after all. Sinemet is a treatment, not a cure and bodies are not machines. There are good days and bad. Times when the magic works and times it fails to live up to expectations. Colds, other bugs, tiredness, stress, hormones and even a bacon buttie can affect how well you can move.

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Dig deeper and you discover DRD is a snowflake condition. Everyone is unique. Some are similar while others seem completely different but ultimately, they are all snowflakes.  The majority are children when symptoms appear but others are teenagers and adults. Some people respond extremely well to low doses so mountains can be climbed yet others need more pills to climb up the stairs. Some DRDers have cognitive effects,  such as depression, alongside movement problems. There are those who have minimal symptoms when they are not dosed up while some  rely on sticks and wheelchairs. Some just need Sinemet and others rattle as they take their cocktail of drugs but everyone  responds positively to the tiny yellow pill!

Another thing which is prevalent in DRDers, young and old, is the appreciation of the little things in life that people naturally take for granted. The ability to walk across a garden to touch and smell a flower is incredible. Making a drink with ease feels like a miracle.  Everyday your body reminds you how precious things really are and how easy things can be different.  Every moment the magic of levodopa works is treasured. It can be good to be a snowflake.

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Unexpected revelation

Sitting in a consultation with both my rhuemie and a neuro an unexpected conversation emerged about my upcoming appointment to Queen Square, London. It appears the reason my regular neuro is keen for my referral there is to see if I am suitable for DBS (Deep Brain Stimulation) to control my DRD as my lovely yellows ones struggle to keep it under control.Luckily I suppose, I knew what DBS was otherwise I think I would have reacted with horror if they had to explain it to me rather than just having a string of expletives running through my head followed by the determined ‘that is never going to happen’, while trying to appear calm from the outside. I imagine the reason my regular neuro kept quiet about it was he knows my reaction to having a lumbar puncture, never mind brain surgery. Yep, brain surgery. I can safely say I never imagined a time in my life I would be discussing brain surgery. It is a discussion characters have on the telly in hospital dramas. Not in real life and not about MY brain! It just does not seem right and feels completely alien to how life should be.
As a young teenager, I watched with horror a documentary on a potential new treatment for Parkinson’s disease which involved surgery. It looked horrific and what shocked me more was the patient was awake! I vowed never to have anything like that done and had nightmares about it ever since. Now the topic of similar (though I am sure not so bad but I am not brave enough to watch the procedure on YouTube) has come up in relation to me. It is just unreal and  Having electrodes in brain something out of a sci-fi movie.

Yet I seen videos of before and after and it scares me that I get tempted. They are like miracles.

A guy with PD

Warning: the next video has  some surgery in it (I could nt watch!) but shows how amazing it can be.

To have the freedom and movement without off periods sounds like a dream come true. Images of what life could be like run through your head like a movie. Running through autumn leaves (yep running not an off balance shuffle), swimming with my daughter, exploring the countryside with my dogs and hubby, working again, driving and doing all the things I used to do but appreciating every moment. No dips, no off periods, no freezes or storms triggered by the seemingly slightest thing. but then reality hits. You realise the method and risks you need to take  and as with everything, there are never guarantees it will work.
For now, for me it is a step to far. I have my yellows and compared to what I am like without them, they give me some freedom and movement. I would rather accept the ups and downs during the day and limitations than risk everything but it does n’t stop the  ‘what if’ movie running through my mind.