dystonia

Juggling diagnosis

In less than a week,  I will have a test that could change everything and nothing at the same time. Ever since my London appointment, life has been off kilter and as much as I try to push it to one side and  forget it, it niggles. I went there with the expectation of discussing yellow ones, genetics and DBS but I came out with my diagnosis thrown up in the air with talk of young onset Parkinson’s Disease and a bit of functional neurological disorder (courtesy of a tremor induced by the fear of having to talk to another neuro and looming DBS talk – more of that another day :/). It feels like all the balls have been thrown up in the air and you are waiting to catch one but you are unsure which and when it will fall. It puts you on edge.It sends you straight back into limboland. Having spent years there previously, it was a place I did not want to revisit. Having a diagnosis –  a name – helps so much in grounding the mind. You can accept it, adapt and move forward to live your unique life. Being in limbo makes you question every little quirk and symptom. Is it DRD, PD or nothing at all but a glitch in the system. You begin to not to trust yourself. It drives you crazy after a while because no matter how you distract yourself, it doesn’t take much for the uncertainties to creep in. Evolution  really needs to design a mute button for thinking!
A DAT scan  will rule out YOPD, leaving DRD and decisions of whether to pursue more confirmation with lumber puncture and phenylanine loading test will be have to be made.These require coming off my magic Sinemet which is a horrendous and frightening prospect. Being older than usual with progressing symptoms I don’t fit the classic DRD criteria but with the dystonia and lack of tremor I don’t fit YOPD either. In my heart, I feel it is DRD with a twist, antagonized by vasculitis because of the diurnal fluctuations and improvement with sleep I experience.  The doubts creep in though with  freezing episodes, micrographia and voice issues among other things.  There is also an added twist in the tale with research coming out that GCH1 DRD causing gene is also linked with PD so you can be really unlucky and have both.
Ultimately, the test could alter everything and nothing. If it is PD, I will carry on taking yellows and carry on living in my own wobbly way with the bonus of at least people have heard of PD. They may not realise it isn’t just an old fogey disease but they have heard of it. This forms a platform for awareness campaigns like #1in20parkinsons. PD support groups are also available in most areas. If it is DRD, my wobbly life continues with a few more decisions to make with the bonus of may be by symptoms will reach a plateau.

Only time will tell which way my journey will go next ….

#DRD # parkinsons awareness #onein20parkinsons #dystonia

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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.