It’s been about a month now since Tilly was diagnosed with GAMT deficiency an incredibly rare metabolic disorder and I’m still no closer to putting into words how I feel about it.
I have spent the last few years holding my breath and waiting for the day I would watch the first love of my life turn into a shell. I was told she probably had a degenerative neurological condition like Rett syndrome. I spent years waiting for my worst nightmare to come true. The horror of waiting for my child to lose all of her hard earnt skills was similar to that feeling when you’re nauseous but can’t be sick. There’s no relief. It is a relentless and crushing feeling. I was holding my breath. Outwardly positive, inwardly waiting for the worst.
But that isn’t coming. Tilly doesn’t have a degenerative neurological disorder. They may even cure her epilepsy. My nightmares of losing her to a seizure may come to an end. I don’t need to tell you that the thought of losing my child makes my lungs burn and my throat close over.
How do you ever put into words how it feels to go from waiting for your child to lose everything to being told she will develop and the future should be bright.
It feels like I can breathe again. Like I can inhale and actually fill my lungs with the hope that the future for my best friend on the planet will be more than I could have ever hoped for her.
I have my sad moments. It’s incredibly tough to know that I could have saved her from all of this if it had been screened at birth. She didn’t have to be disabled, she didn’t have to be epileptic and she didn’t have to spend five years trapped in her own body. Treatment is too late now to save her completely. She will always have profound special needs. But she didn’t need to.
Tomorrow Tilly and I (and my mum) are off to London to meet her metabolic consultant and start treatment. I will be walking into that hospital with my lungs fit to burst with hope.
Hope for the girl I’ve been waiting to lose for such a very long time. The girl I get to keep. ❤️