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Tilly’s Story

Tilly’s Story: Team Members
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Tilly was born in Liverpool in Summer 2010. A beautiful 8lb baby girl to join her excited 2 year old brother. For those first few months, despite having a new baby, everything seemed easy, almost perfect.

Exactly four months old, everything changed. Lying in her cot one morning, Tilly made a loud groan, her face froze in a grimace - jaw clamped, spit bubbling and body rigid. Neither Tilly’s mum or I had witnessed a seizure before and assumed Tilly was choking. No longer taking breaths, she was turning blue around her lips and eyes. While her desperate mum phoned for an ambulance, I dangled her upside down, banged her back, stuck my fingers down her throat to clear her airway (not advised seizure care!).   Then, moving out to the street, Tilly let out an almighty gasp and breathed again. The ambulance pulled up, the first of many we would see over the years.

A&E doctors speculated it had likely been a febrile convulsion. We returned briefly to our normal life.

Tilly’s Story: About

One month later the seizures returned with a vengeance. This time we stayed in hospital for weeks as she continued to seize multiple times each day. An MRI, CT and Lumbar Puncture all failed to diagnose a cause, but an EEG led her neurologist to suspect a metabolic disorder with a horrific prognosis, we were warned that Tilly could regress and not live past her first birthday. We left hospital devastated but over the next few weeks the metabolic tests came back negative, the phenobarbital had reduced the seizures and she had continued to meet most of her milestones. By the time she was 1 we were feeling optimistic, the neurologist was happy with her progress and we were told to wean the phenobarbital

Tilly’s Story: About

A month after Tilly’s 1st birthday multiple daily seizures returned and we were back in hospital. We were discharged with a new medication ‘Keppra’ (we now know this can aggravate seizures in SCN8A patients) 

Our lives became chaotic, with frequent prolonged cluster seizures and hospital trips. After a particularly severe prolonged seizure that put her into respiratory arrest we changed her neurologist to the one on-call. He listened to our own internet research and agreed the explanation could be genetic, such as Dravet Syndrome (SCN1A) or similar. At this point we had no idea that SCN8A was only just being discovered across the Atlantic and Tilly was not tested for it. 

Tilly tested negative for SCN1A (Dravet) but was given a clinical diagnosis of Dravet Syndrome that allowed us to access different medications, support and a community of people going through similar experiences.

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Tilly’s Story: About

Tilly was started on Sodium Valporate and the Keppra (which had likely made matters worse) was weaned. Initially we saw a big improvement but the seizures never went away for more than a few weeks. Over the next few years we added Clobazam, Topiramate, Stiripentol and the Ketogenic Diet. Seizures and the constant threat of seizures clouded our lives. Amplifying the anxiety was that Tilly was extremely sensitive to the ‘rescue’ medication used to stop prolonged seizures as it suppressed her breathing. After seeing Tilly resuscitated each seizure felt like a game of Russian Roulette and each morning our first thought was (and still is) to check Tilly was still with us.  We had regular hospital trips with seizures or related injuries, such as a nasty head injury or a broken arm, along with serious pneumonia.

Developmentally Tilly’s learning difficulties were becoming increasingly apparent and she was diagnosed with ASD. Most of her language was echolalia and her receptive and expressive language skills were significantly delayed.  

Tilly’s Story: About

When Tilly’s neurologist retired he wrote a letter requesting that Tilly be tested for any new genetic epilepsies discovered, but she was not. We had been warned that finding a genetic cause was the ultimate needle in the haystack. 

In 2018 a friend who worked as a genetic counsellor at Liverpool Women’s Hospital (where Tilly was born) encouraged us to participate in the 100,000 Human Genome Project. 

In June 2019, a month before Tilly turned nine, we received a diagnosis – a de novo variation in SCN8A. A life changing diagnosis as children with SCN8A responded well to Sodium Channel Blockers, medications that we had always been told to avoid because of the clinical Dravet diagnosis. 

We could find no information in the UK on SCN8A but did find a Facebook group – the Cute Syndrome Foundation in the USA.

Tilly’s Story: About

 In December 2019 I arrived at the Cute Syndrome conference in Baltimore. Being part of a community and hearing such similar experiences was amazing. Over 3,000 miles away, in a city I only knew from watching The Wire I felt like I had come home.

Cute Syndrome founder, Hilary Savoie, showed that by co-ordinating the community (and working relentlessly) it was possible to have influence and attract interest from researchers and pharmaceutical companies.  I also met Dr Hammer a geneticist who incredibly had identified the gene in his own daughter, Shay, soon after her tragic death in 2011, when Tilly was just a baby.   

Whilst in Baltimore, I made friends with fellow Europeans including Cinzia from Italy and mum to Aron, a beautiful baby with SCN8A, and Roland from Munich who had tragically lost his gorgeous son Bruno to SUDEP aged 7.  I returned to England inspired by the people I had met and those suffering or who had been lost to SCN8A.

Two months later Roland and Cinzia visited us in Liverpool and we began to plan a European network, Europe’s first SCN8A conference is due to be held in September 21, led by SCN8A Italia, University Hospital of Bonn and Danish Epilepsy Centre.

Tilly’s Story: About

The first year after diagnosis (2019-20) was challenging for Tilly as we weaned existing medications and tried new ones that she was then allergic to. Just before her 10th birthday Tilly was having multiple daily seizures, she could barely walk and was drooling constantly but the day she started Lacosamide the tonic-clonic seizures stopped and she bounced back. Lacosamide would never be used for Dravet syndrome and, despite some breakthrough seizures, has made such a difference to Tilly’s quality of life. 

There is no saying how long the positive response to Lacosamide will last, but for now this respite is a gift for which we are very grateful.

Despite (or because of it all) Tilly is an amazing sparkling character with an irrepressible sense of humour; she loves singing and blowing bubbles and doing the conga (regardless of how appropriate the context is).  

We can’t wait to meet up with the other SCN8A families in the UK and beyond.

By Tilly’s dad 

(a variation of an article written for Rare Revolution magazine)

Tilly’s Story: About
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