Support us Your stories Living with stories Lana's story Lana Maria has a provisional diagnosis of paroxysmal dystonia and dyskinesis. She is undergoing further tests to rule out epilepsy and blood work to investigate her paroxysmal dystonia and dyskinesis. Her mum, Georgia, tells us Lana's story. Paroxysmal dystonia is a neurological movement disorder characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements in the face or body that are only visible during episodes. Episodes tend to last for short periods of time and between attacks there are usually no other visible symptoms. Lana was given a provisional diagnosis of paroxysmal dyskinesis in September 2020 at the age of 21 months. It has been described as the “likely problem and most probable diagnosis” and on that basis, we are starting a treatment of medication to see if it improves Lana's symptoms. This comes after 17 months of constant testing and multiple consultants. I want to tell Lana's story as getting a diagnosis and help for her was difficult, especially due to Lana's young age and inability to communicate what was happening. I want to write about our journey to help other parents who feel equally helpless as we did and still do. When Lana was 4 months we noticed her choking on her feeds. Her mouth would jerk and twitch to the left side along with her fingers and leg. These episodes would last a few minutes to an hour. Lana often seemed unphased by the episodes however, after a few weeks I was growing concerned and took her to our local A&E. She was admitted for 7 days and had tests for a whole range of things, mostly blood work to check for a deficiency to easily explain her symptoms and send us on our way. None of her tests were eventful, it did not help the doctors nor us understand at all what was happening. We left the hospital in April 2019 with no answers and no idea what was happening to our little girl. As the months went on her dystonia grew in aggression, her movements becoming a lot more animated, twisted and uncomfortable; often causing Lana to burst into inconsolable crying. These episodes were very rhythmic and could continue for hours. They were often accompanied by a vacant frightened look just before it was going to happen, as if she knew something was going to happen but unable to communicate that to us. At this point we knew as parents we needed to push for further testing and a more specialist opinion. We went to our local paediatrician and unfortunately, he was equally as confused by her symptoms as they weren’t typical of any condition alone. She had further testing, at first, they wondered it was it was due to cardiac issues, due to family history. Again, tests were frustratingly uneventful. On our next appointment they referred us to Great Ormand Street Hospital (GOSH) Neurology as a final attempt to get an answer. Lana's dystonia affects her ability to eat as she often has head jerk episodes while eating. She often falls down if her legs jerk while she's trying to walk. She finds it hard to play when she's having an episode as she will often drops things. All of these things are very frustrating to an infant who has no idea why this is happening. This led to Lana being very withdrawn and anxious, often just choosing to watch others play which is heart breaking as a parent. Luckily GOSH were fantastic and wasted no time investigating if these episodes were seizure related and did all the necessary testing for epilepsy. Lana had EEG’s and MRI scans all of which did not support an epilepsy diagnosis. In the mean time I was taking as many videos as I physically could of Lana's episodes to help the consultant with his diagnosis. While out for dinner one Sunday (September 2020) Lana had her biggest episode yet, her dystonic movements were very jerky and obviously resulted in Lana being in a lot of pain because again she was completely inconsolable. While in the car rushing her to A&E she stopped breathing. Every parent's worst nightmare. Luckily, she self-resolved relatively quickly. Our local hospital had already assumed because she was being investigated for seizure type episodes that she must have epilepsy and decided that because her episode was shorter than 5 minutes she could go home with no observations or medical intervention. Due to the severity of this episode once we had returned home I told GOSH, they quickly decided they needed to review Lana's case and all her videos. It was at this point they told me her diagnosis was highly likely to be paroxysmal dyskinesis and we are starting medication to hopefully reduce Lana's symptoms and manage the condition. My advice to all parents is when your babies are so young it is so hard to get people to listen to you when you feel like something is wrong. Take videos. I cannot stress it enough. The videos I took of Lana were the main basis of her diagnosis and the pathway to her getting better. Push as hard as you feel you have to for somebody to listen to you. If that means you go to your local A&E multiple times a week just to speak to a doctor, the more people you can get to listen the more likely you are to speak to somebody who recognises your child's symptoms. Paroxysmal dystonia is not understood by all medical professionals unfortunately, do not let A&E staff assume your child has epilepsy (with no diagnosis) they should be communicating with their consultants. It is hard but you as a parent know when something is wrong, trust your instinct.