The story of Luca, as told by his mum Emma. Luca has whole body dystonia (generalised dystonia) caused by the DYT1 gene. 

Whole body dystonia is characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements in the whole body. Typically, the condition starts in a limb and then ‘generalises’ to other areas.

Luca was diagnosed with dystonia in April 2018 at the age of 10. This came after 16 months of what can only be described as ‘Hell'.

Luca was 9 when he started to experience difficulties in his ankle. He loved playing football, however he quickly developed lots of other symptoms that were unexplained. His walking began to suffer amongst other things and as a result our bubbly, confident, happy little boy changed before our very eyes. He withdrew from everything, he hated leaving the house, was sad, angry and very low in his mood. Added to this his symptoms got worse over time, and he was in a great deal of pain all the time.

Luca was very lucky to be under a fantastic medical team. They delivered the news that he had this condition called dystonia. As a family we were in a complete state of shock. However it may sound odd to some people but for us it was a relief. After so long living in limbo, and seeing Luca’s physical and mental health suffer, we finally had a diagnosis.

A week after hearing about Luca’s dystonia we were sitting in hospital hearing from a specialist that this was a condition that he would have for life, and his only real chance to walk again was brain surgery! Being told that he needed brain surgery, Luca really took it in his stride, his only question being would all his hair need to be shaved off!

So our journey began, quite literally as we spent many hours travelling from our home in the north east of England to London to meet with the fantastic team who would be supporting us.

In December 2018, 8 months after his diagnosis he underwent Deep Brain Stimulation surgery at Kings Hospital. To say it was the scariest moment of our lives would be an understatement. Seeing Luca lying in the recovery room afterwards, head bandaged and sleepy was also an immense relief.

To be honest the remainder of our stay in London was an absolute blur. It was very close to Christmas, I remember Santa visiting, Luca being reunited with the lovely terrier Timothy who visited the ward, the wonderful nurses, Luca being sick again and again!

2019 heralded for us a new beginning in many senses. It marked our 2 year anniversary of when Luca began to develop symptoms, however he was showing great improvements already since having his operation. Cue regular monthly visits to London, battery checks, and Luca being pain free for the first time in 2 years. Over the past 4 months we’re getting our son back, he’s happy, positive, and importantly for him he’s enjoying his independence.

We have no reason at all to not feel positive for the future and we’re eternally grateful for the medical teams both at home and in London. We’re grateful for Dystonia UK and their support. More importantly our family and friends and even strangers who have been so kind and supportive and have been through this journey with us.

Are we happy that dystonia knocked on our door? Honestly no. But it did, and as a family we’ve 'welcomed it in'.

The message is that yes getting the diagnosis can be extremely traumatic and scary. As parents, seeing your son suffer in such a cruel way is challenging and upsetting, but there is hope and with the right support you can overcome this condition. It’s been a difficult journey but we’ve come out the other end and stronger for it.