Callum's story, as told by his dad Neil. Callum is a young man with Down Syndrome who has neck dystonia (cervical dystonia).

Neck dystonia is characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements of the neck and head. The movements can lead to the head and neck twisting (torticollis) or being pulled forwards (antecollis), backwards (retrocollis), or sideways (laterocollis).

Callum's thirty one years on the planet to date have been filled with laughter, music, dancing, a love affair with food (but not salad! 🤦‍) and a determination to be as independent as he could be. We were all truly blessed that he was in our lives.

And then one day in early May, he complained of a tightness in his neck and shoulders, which we put down to some gentle exercises in the home gym where we were trying to keep him active during lockdown. The tightness then turned into an ache and within two weeks to unbearable head and neck pain, which necessitated three trips to hospital, the last one for a six night stay. Callum went from being the happiest, most outgoing and gregarious of people, into a withdrawn, frightened little guy, who cried most of the day because of the unmanageable pain.

When your son with additional needs says, “dad please help me,” and yet neither I nor the hospital, could come up with a way of doing so, you cannot imagine the distress it caused for the whole family and especially for Callum of course.

Every test in hospital was normal. When they told me the CT scan was clear I asked for an MRI, which they initially refused because this was quote, “now clearly a muscular skeletal problem.” The MRI came back clear, so now to the clinicians, this was irrefutably an muscular skeletal condition! So much so that they got physios to intervene which made his pain ten times worse and he had to be sedated with IV morphine and a host of other medications. We told the doctors that their diagnosis made no sense and nobody who has a simple muscle strain, holds their neck in such a bizarre position and has such dreadful pain. We were humoured, but basically our protestations were ignored.

So on discharge from hospital, we now had a young man who didn’t understand what was going on and lying in his bed all day long, sobbing. That’s when I started consulting with “Dr Google,” and thank goodness I did, because after reading many hundreds of research pages and personal accounts, I was convinced Callum had this “thing,” called dystonia. But the GP and the local hospital doctors would have none of it, so I contacted a global expert in the field, Dr Marie Helene Marion, in London, who put me straight in touch with Dr Tim Harrower, a neurologist in Exeter. Callum couldn’t travel, so Dr Tim (as Cal now calls him) got in his car and drove a round trip of 180 miles to see Callum at home, what a remarkable man! It took him a very short time to diagnose Callum’s dystonia and we agreed that some early, but very conservative low dose botulinum toxin injections, would be the best chance of relieving his pain.

Callum had less than one hundred units of Xeomin, administered there and then, and the effects, by the very next day, were remarkably positive. We didn’t have our “old Callum,” back, but we definitely had a young man who could start to function again. His precautionary low dose didn’t last more than a month, but far better that, than some adverse reaction (for example dysphagia,) which for someone like Callum would have also been very difficult to manage. So week six post initial injections, Cal was in a lot of pain again and once again Dr Tim rode to his rescue! As a one off, we all agreed to try Callum with an earlier than ideal set of booster injections and at levels more akin to an established dose.

This time the effect was more gradual, because his underlying dystonia had worsened, however within a week we saw signs of “old Callum,” once more and here we are at week eight and he’s playing games outdoors and participating in life again.

We know these are still early days, we know it’s not guaranteed that Callum will get through to his twelve week permitted reinjection appointment pain free, and we know that we aren’t yet clear on how we absolutely manage this dreadful condition.

But here’s the things we are clear on and which we hope might help other people:

1. You know your body (or child’s body) better than any doctor
2. Don’t let medical science and opinion blind you to wider possibilities
3. Do your own research and identify your own dystonia specialists
4. Ask many opinions, these docs are passionate about spreading the word
5. Don’t be scared of botulinum toxin, it wouldn’t be licensed if it was unreliable
6. Be conservative in your treatment regime initially, you can always add to it
7. Be determined to get what you need, nobody deserves this much pain
8. Join Dystonia UK and help get five years to diagnosis, down to the five weeks that we achieved. It’s eminently achievable, because even Callum did it! 😎😘