PKD and Me

PKD and Me

On the 6th of September 2018, after 14/15 years of uncertainty and at times thinking I’d lost my mind, I finally got a diagnosis for a tremble I’ve been getting in my right leg.

Now if you know me IRL and have seen me wobbling around after someone has made me jump or I’ve jumped up too quickly, you’ll understand what I’m referring to when I say my “leg tremble”. My knee jerk reaction to shock or sudden movement is a twitch like tremble in one single leg. It started when I was around 12 and I’ve spent over a decade trying to get an answer for what was happening to me. At first when I was 16, a paediatrician told me I was fainting (I made it abundantly clear I was NOT) and I was having vasovagal episodes. He said that I needed to eat more salt and sent me on my way.
As I got older it got worse, I was told that it was anxiety causing it so was put on anti-depressants, beta blockers and sent for CBT. I soon started to doubt myself and believed it was all in my head.
I’m not crazy
At 22, I was becoming more and more anxious, I was barely leaving the house, had mapped out routes I could take when walking outside so as not to encounter something that would make me jump and trigger the dreaded tremble. I went for CBT again and it continued.
I blacked out in the car park at work at the age of 24, at the time it was a suspected seizure as it wasn’t witnessed (turns out it wasn’t) and I started to have panic attacks. I was put on more anti-depressants and it continued until I blacked out again. I went back again for CBT and felt I’d done as much as possible, but when I asked how I could stop this knee jerk reaction, my therapist was puzzled and alarm bells started to ring again.
I went to my GP at 25, completely broken and in tears after doing my own digging on Google. I told her it was something more and I thought it was a type of dystonia. She looked it up (I don’t expect GP’s to know everything – just putting it out there), looked at me and said “hmm, I’m not convinced. But I’ll refer you to the neurologist anyway.” So I got my referral and felt more deflated that I wasn’t being believed – maybe I was mental after all?
A couple of weeks passed and I ended up having a tonic-clonic seizure (this is the stereotypical seizure associated with epilepsy) – I believe this was a direct result of the anti-depressants I’d been put on, so I came straight off them.

At my appointment with the neurologist, his ears perked when I said I think it’s some kind of dystonia (a type of movement disorder) and explained my symptoms. We discussed my recent seizure and I was prescribed Levetiracetam to prevent it happening again, booked in for another MRI scan and he asked that I get a recording of my episode for him to show a colleague who specialised in movement disorders like this. He initially said it could be something called PNKD (paroxysmal non-kinesigenic dyskinesia) and if it was, it was an extremely rare kind of disorder. This was in July 2017.
So I sent the videos, had a nightmare trying to first of all record them (they’re a pain to capture as they’re spontaneous and unpredictable) and then to send them to an NHS email account that sent them into the junk folders. After countless phone calls I finally got an emergency telephone appointment with my neurologist in January 2018. He said he’d seen the videos, showed them to a colleague and didn’t feel it was a movement disorder, At this point I was getting fed up and said “I don’t mean to be rude, but this feels like I’m being fobbed off and I won’t accept that there isn’t something more wrong with me”. He paused and then told me we had two options, he could refer me to a PSYCHOLOGIST to help me understand why it was happening or a movement disorder specialist for a second opinion. I obviously said the movement disorder specialist and thought to myself, okay let’s see where this goes because I know there’s something wrong with me.
The specialist in London was very sought after and in high demand, so getting an appointment was a complete nightmare. It ended up getting booked in for July, then pushed back to August, then DECEMBER and after a distraught phone call after returning from our honeymoon when it spiralled, I ended up with a September appointment.
I was put on pregabalin by the mental health team as I’d hit rock bottom and I couldn’t take any other tablets (as much as I loved diazepam, you’re not allowed it long term as it’s super addictive) which helped me start an upwards journey with my mental health. I started to feel like Gaby again and couldn’t wait to get even better.

So the appointment day rolled around and I was extremely nervous, not knowing what to expect – I half thought I wouldn’t know much more than a date for an appointment for tests or be fobbed off again.
But this was different, after a nervous journey and anxious wait I poured out everything to this doctor, Aaron pitched in to help me out with things I wouldn’t really think about, the doctor examined me and sat back down again. He then asked me what I thought was going on. I paused to gain some composure, then replied “I’ve done a lot of research and think that PNKD isn’t an accurate diagnosis. I read more into PKD (paroxysmal kinesigenic dyskinesia) and honestly felt that everything accurately described me.”
The next sentence that came out of his mouth blew me away and I teared up as he replied “Well, I’m confident based on the video you showed me and your history to give you a diagnosis of PKD.” He then went on to confirm what I’d believed to be true for a long time, after being fobbed off for years I finally had an answer.
I was prescribed carbamazepine and told that I’d need to come back for blood tests, genetic testing, an EEG and a lumbar puncture to see whether my epilepsy and the PKD was connected.
I’m feeling elated that I’m not nuts (apparently a lot of people have to go through the same kind of journey to get an answer) and am excited to start my journey into a normal (ish) life.
Until Next Time


  1. September 12, 2018 / 12:37 pm

    That’s so rubbish that you’ve been repeatedly fobbed off – I’m so sorry for that Gaby, it’s so unfair! I bet you’re relieved to finally have a diagnosis and hopefully the doctors will be able to help you now. I haven’t heard of PKD before, so I’ll have to research it to gain a better understanding xo
    Char |

    • September 14, 2018 / 5:38 pm

      Thanks Char, I’m so relieved that somebody believes me now! PKD is really rare so I’m not surprised you haven’t heard of it ❤️❤️

  2. September 13, 2018 / 10:01 pm

    I can definitely relate to the feeling of relief of a diagnosis. People who don’t have a condition think it’s scary but when you’ve been fobbed off and having people telling you it’s in your head it’s the best thing to hear that it’s an actual thing!! I’m so happy you’re on your way to sorting things out for yourself FINALLY and I’m looking forward to seeing you getting more confident and less anxious!! ❤️
    Alice Xx

    • September 14, 2018 / 5:47 pm

      Thank you lovely – it’s a horrible feeling when you’re not believed but oh so wonderful when you have the delight of telling those same doctors that you were right! A bit of a FUCK YOU for not believing me 😂😂 can’t wait to feel like the old Gaby again! ❤️❤️

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