The Ups and Downs On The Diagnostic Pathway

Posted Wed 3rd Nov 2021 at 09:00
by Fiona Tootill

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A parents perspective of the journey to diagnosis

My journey as a TS parent officially began mid December 2020 when my then 21-year-old daughter developed a tic attack so severe that by the following day when we rang 111, she was stuttering so much from tics that she could not speak to call handler, and was unable to even swallow a drink or to eat.

We were sent a cab by 111 and were emailed a note to take to a booked slot at A&E – a note which said, ‘suspected stroke’. I remember thinking “Well that’s not right; it looks exactly like Tourettes to me”. It had followed a protracted period of extreme insomnia and general hyper-wakefulness, but otherwise, the lead up was uneventful. She was neurologically examined and given Valium and a chemotherapy-used anti emetic tablet, off-label, and was then sent home with more of the same, and a discharge summary that said ‘body twitches and jerks secondary to Asperger’s’; and we were told to arrange a GP appointment and ask for referral to Neurology.

I happened by pure chance to be unemployed for a few months spanning that timeframe and was able to take her to college a few days after, as she was suddenly unable to manage her shoe fastenings or to keep her belongings in her bag without dropping everything repeatedly, she could not manage the journey by train to college, to prepare food or pack her bag, nor to organise herself.

During this time, many places were closed due to the Covid pandemic, including college, so she was happy to rest at home and to wear the face mask if ever out, as it hid the tics while she was getting used to them. Over time the tics calmed down and it fell into a fluctuating pattern like her OCD which we learned is a co-morbid condition.

The GP telephone appointment led to a referral to a Neurology appointment, but we had to fight for this, and then when it came it had to be conducted over the phone. The local hospital neurologist was thorough, but keen to refer to St George’s, since his local service only worked really with Parkinson’s and degenerative brain diseases. This all seemed to be going a bit too smoothly…and the local neurology department even arranged an MRI on a Sunday, when it was quieter, and they had the use of a special MRI scanner suitable for those who cannot keep stock still.

Some time passed and I attended a few parents support zoom group meetings at TA, but I was struck by the fact that the parents were of younger school age children, and I felt that I was unlikely to meet parents of young adults, so my heart sank a bit. However, I did learn a lot and discovered that my daughter’s single childhood tic – an un-noteworthy shoulder one, was a possible contender that confirmed her tic disorder did pre-date Dec 2020, in addition to an occasional stutter and abdominal pain issues which could also have been tics. In just a few parent sessions, my knowledge grew.

By late summer 2021, I chased St Georges about the referral which had been made in March 2021, and discovered that it had been rejected, as they had apparently asked referrer for a CAMHS history of overlapping conditions, and this was not supplied by the referrer.

It was very troubling that I only knew this by chasing, and it was a miracle that I got my act together to ring at all, as I was struggling in a new job with a hefty dose of Post Covid Brain fog (despite double vaccination) and that, on top of a pre-existing Dyspraxia, was not a recipe for pursuing things in a managed approach! I left a message with the PA of the local hospital neurologist about this oversight, and was promised a call back, which never materialised. This then got filed away along with, or possibly under, a constant feeling in my brain of being completely overwhelmed by nearly everything, as I struggled, indeed continue to struggle, trying to manage a new job in a neurodiversity-non-aware work environment, who also seemed at a loss to advise on Long Covid.

This was all a bit grim.

My daughter was waiting for an appointment with the National Specialist Adult Autism and ADHD Service but still had another year to go on this two year long waiting list. At the same time, I was trying to get seen at the Memory Clinic and Long Covid clinic. The referral to the Adult Tic Disorders Clinic in London for my daughter had been a ray of hope, now dashed……grim autumnal waves of despondency rattled around our world for a while, along with the leaves in the garden.

Eventually, my GP sorted out my referral …. hooray! One of us could at least get our brains sorted…. light at the end of the tunnel…and the strong likelihood of a knock on effect of more brain processing grit and parent-power (in order to fight for my daughter), becoming available, as many previous years of fighting for correct treatment, diagnoses and for an EHCP for had taken me to some exhausting places.

However, the biggest light at the end of the tunnel was the Adult TICfest weekend at Moor Hall with Tourettes Action. As soon as I saw the advert on TA’s newsletter, I booked it straightaway.

The weekend was stupendous! My daughter met so many other young people, inspirational people doing a variety of amazing things with their lives and exemplifying the very best in human nature, colourfulness and inclusivity.

I could never have predicted what would happen next in a million years! We discovered there was a doctor there from the Adult Tic Disorders Clinic at St Georges who was able to explain to me how to resurrect our rejected referral and to ensure its success this time by mentioning his name, Dr Jeremy Stern, and the event where he was one of the speakers. And suddenly there it was…. a managed approach…and a clear direction of travel towards diagnosis. He also gave advice about the need for her neck tic to have a particular treatment. Nobody would ever believe that this seemingly insurmountable problem of getting a diagnosis could be so straightforwardly turned around.

I will forever be grateful to TA for this weekend. I also had the opportunity to meet parents of adult young people with Tic conditions, so that need had now also been met, as there were many people my daughter’s age there (22), some with a parent.

I feel like my daughter and I are now turning a corner. The pandemic has thrown a lot of things at people. Many have had bereavements of course and that is terrible. We all remember this and feel humbled. For us as a family, it closed down my project that I worked at prior to my current job, a wonderful project working in theatres and music venues with young neuro diverse people, which due to the theatres etc closing in the pandemic meant the project folded. This threw me into sudden unemployment but gave me sufficient time to be a parent carer for my daughter who had a difficult year in 2020. It was a year, that in its closing moments, catapulted my daughter into the world of Tics, full tilt, and us both into the world of telephone appointments for conditions that, really and truly, probably need a face-to-face consultation.
Mid-Autumn has started with the wonderful TICfest, new possibilities, and a deeper understanding of what makes the wonderful glorious technicolour world of ND “tick” (if you’ll pardon the pun!”)

I feel part of a community now, and I feel hopeful. My daughter says she wouldn’t want to think like neurotypical people; she knows her brain can be high maintenance but she is happy with it and happy in her own skin. And if that isn’t the secret to contentment then it must be a very close contender!

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