Aydins struggles started shortly after birth His early symptoms were being jittery. We were discharged with being told this was normal. Aydin was my 6th child and it wasn’t normal to me. The newborn clench and reflexes didn’t ease with time. But we found it fascinating that he could roll onto his side from just a couple of weeks old. At 5 weeks, the health visitor couldn’t believe the strength in his neck. He would completely straighten out. At his 8 week check we struggled to get his measurements because he was so stiff, we giggled about his strength with the health visitor. Generally he was a smiley baby, but I was convinced he had colic. 16 weeks came and lots of colic relief tried and he was still really struggling. He wasn’t reaching any of his milestones other than his beautiful smile. Feeding was a struggle for him and he started to lose weight. He was constantly twisting his limbs and arching his back, evidently struggling with uncontrollable movements. We got a referral to a paediatric consultant, who referred us to a neurologist, who diagnosed Aydin with dystonia. Aydin spent his first 2 years of life in constant pain. He would have spasms where his body would lock into position. His little face would express fear and discomfort. We tried a handful of medications but couldn’t gain much relief for him. It was heartbreaking to watch. He couldn’t even sleep without myoclonic jerks. Aydin was suspected to be having seizures but a couple of short eegs ruled this out. So every episode was assumed to be dystonia. 

Whilst on holiday in may 2021, Aydin became unwell and had a temperature. We decided to cut our holiday short and headed home as there wasn’t a local hospital where we could get him checked out. Dystonia was tearing him apart and his diazepam wasn’t helping at all. The day after we returned home he was getting worse so we took him to our local hospital. They sent him home saying this is dystonia. The next day I took him back as his temperature was 41.9. He was pouring with sweat and in unbearable pain. His temperature was now that high they couldn’t get a reading and his little heart was beating in the 230s whilst he was battling with the pain. They couldn’t get his heart rate or temperature down and had to intubate him in the clinic. He was rushed to intensive care where he was for 10 days before moving to ward for another 10 days. They had found he had a couple of common viruses after being there a week or so but had led to sepsis. We made it home a few days before his second birthday and for the first time in a long time he seemed pain free. As we weaned his extra meds down his dystonia was back and again he would be constantly sweating and looking at us to help the pain. It was that bad his eyes would be rolling and his only relief was when what I thought was exhaustion, would knock him out for a while. I think the dystonia actually triggered seizures as just 6 weeks after being home from his pccu stay, whilst getting his feeding tube replaced in hospital, Aydin seemed very unwell again. He was having constant spasms and pain was ripping through his tiny body. He looked just like he did when he had sepsis. The pain and constant movements caused him to vomit a load of blood, have a seizure and pass out. He didn’t wake up for 3 weeks, he then went on to spend more than 3 weeks on a neurology ward. Aydin had septic shock and as a result, suffered a severe brain injury whilst in intensive care. There was never a cause for the septic shock. I believe it was dystonia related. But we did learn that Aydin had a genetic condition called GNAO1 which dystonia is a big part of. Since this episode his dystonia isn’t as aggressive, but that comes at a price of being so drugged up he has lost his smile. He has a couple of bouts a day, most are over within an hour, where either a seizure will end it or rescue medications tend to kick in. Dystonia is the cruelest thing I’ve ever had to watch. And that’s nothing compared to those living with it. I find it so heartbreaking that a cure hasn’t been found and that medications aren’t compatible with creating a content life. Added to this comes having to explain dystonia to everyone you ever meet, including most medical professionals as it’s not a commonly known condition. Awareness definitely needs to be raised in hospitals. Sufferers should not be left in pain whilst people spend the day researching dystonia. Listen to the patients. Learn to recognise the symptoms. Treat the symptoms. Don’t leave people suffering for years on end to the point where it can severely hinder their mental health. Imagine that the sufferer is your child or parent. Don’t send them home as they came in. It’s cruel and belittling. I hope one day that dystonia warriors can be treated for the condition, the way a headache can be treated!