Journey to diagnosis: Tilly

This time a year ago I was heartbroken and hanging on by a thread. The whole of last year was a blur of ever changing epilepsy meds and EEGs and hospital stays desperately trying to get Tilly’s epilepsy under control. Nothing worked. Everything made it worse and finding out her next EEG would be on her fifth birthday was a kick in my already very sad heart.

Heartbroken doesn’t quite cover how I felt a year ago. Drowning is more apt. Drowning in the darkness that came with being constantly told my daughter had a degenerative neurological disorder, that she would possibly die in her sleep from a seizure that they couldn’t control at all.

I spent many a night choking on the sadness that rose up in my throat and consumed me. Waiting for my beautiful child to lose all she had fought so hard to learn. Waiting for the day I’d wake up to find a seizure had taken her from me in the night.

I was living my worst nightmare and pretending to the world that everything was magic and I was hell bent on fighting for her, getting her a diagnosis, finding the cure for her. Truth be told. I was broken.

All I had ever wanted whilst growing up was a daughter and it felt desperately unfair that I had been given one I couldn’t keep or protect from what her own body was doing to her. She was locked inside her mind and nothing I could do would break her back out again. The lights were on but no one was home anymore.

This year she was finally diagnosed with GAMT deficiency, a treatable metabolic disorder and started treatment for it in March.

Her epilepsy seems to have disappeared, the lights are not just back on in her eyes … the fires are burning. She is full of life and happiness and is making progress every single day. Learning to break free from the prison of her own mind and finally start to communicate in her own way.

I can finally breath deep lungfuls of air. I can finally sleep at night. I didn’t realise how much I struggled to sleep before.

I lived my worst nightmare for many years. I know exactly what it is like to watch the first person in the world you’ve ever truly loved suffer.

Tilly will always be very, very disabled. Her diagnosis came too late for her to live a normal life like the others with her condition who were treated much earlier can. Maybe she will never talk or learn to use a toilet but she has the one thing she didn’t have before now.


And me? I will never stop being grateful to the amazing scientists who sequenced my daughter’s genome so that I could keep her.



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