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I’ve been struggling lately with managing and balancing my fears surrounding Rett Syndrome and my daughter’s life. After her diagnosis we put so much hope into gene therapy, and it’s what got us through most days. That’s a sentence you may gloss over, but I cannot stress enough how much we cling on to the thought of Alba receiving any kind of treatment, be it a cure or an improvement. It feels as though we’ve moved on 2 years yet also moved nowhere. If anything some days it feels as though we’re going backwards. But I know that scientists have been researching and families have been fundraising and spreading awareness for years and years. We’re so new to this in comparison, and 2 years is nothing compared to the 20+ year marathons they’ve been running.

Alba’s breathing and seizures have generally been worse in the past 6 months, and each time we have a blip I can’t help but think about Rett Syndrome and mortality. You might think I’m being dramatic, but death is constantly rearing its ugly head in the Rett community and not just around older girls. If you have never worried that your daughter might not wake up in the morning, you’re lucky. If you’ve never sent her to school and wondered if that hug and kiss goodbye could be the last, you’re lucky. And if you’ve never watched your child’s body convulse until it needs chemical to relax it, or watched as their lips turn blue and their skin a mottled grey, a limp and lifeless body, you’re more than lucky. Our Rett girls are resilient. Out of this world resilient. But they’re also so incredibly fragile. As a parent, living in constant fight or flight mode is exhausting and emotionally and physically draining.

Over time you build up some kind of block and distance from your life, subconsciously detaching from the sadness and anger that can be all consuming. I guess it’s survival. We’ve had days and weeks darker than you can imagine, and it’s not a sustainable way to live. But you cannot just simply ‘enjoy the good days’ or know that ‘there may be bad days but good ones are coming’. Because with Rett, you never know what’s lurking round the corner.

We vowed after diagnosis that we would always put Alba first and Rett second. That we wouldn’t say no to things and we would keep on living. But some days Rett wins and there’s no escaping it. We do as much as we can to give her a ‘normal’ life and I’m so damn proud of us for that. I’m beyond grateful for my little team and the memories we have made. But as soon as you’re out of your bubble and around other families that are living real normal lives, it can hit you like a tonne of bricks. It’s easy to bumble along and forget about the things your child cannot do, never has done and maybe never will do. The sadness of realising they too should be skipping through the garden, or collecting pebbles on the beach, or fighting over toys is overwhelming. The things that parents moan to you about are the things you would literally chop off limbs to experience.

And then the breath holding episodes and seizures hit and you feel even more anger at how much your child already suffers, without having to deal with medical conditions on top. They spend days sleeping off seizures and medication, when they should be enjoying their school holidays and making memories to tell their friends.

We do our best to embrace the good and muddle through the bad. And you kind of get used to things, accept the way things are and some days you even feel such gratitude for what you have. But we’re only human, and sometimes things get too much. Your mind spirals and you begin to wonder if these are the best days you will have as a family, or maybe that those days have already been and gone. Rett Syndrome doesn’t get better or improve, and it pulls your heart apart watching your child deteriorate in front of you, knowing there’s nothing you can do about it.

Which is why we launched ourselves into fundraising and put so much hope into gene therapy. Because it’s the only hope we have. Every day is another day that Rett Syndrome takes hold of our girl, and the sooner she could get gene therapy the better. There are many unknowns in the world right now, and the medical trial world is never straightforward. There are never any guarantees. But all we can do is continue to spread awareness and raise money to keep pushing forwards.

To anybody out there living with a child with a disability, genetic condition, addition needs; medical condition or maybe all of the above…I see you. And it’s ok to not be able to just ride things out because there’s nothing you can do about it. It’s ok to not be able to find a way to adapt and just cope. It’s ok to fear the worst. We’re human beings, and it would be more concerning if we just skipped through this life without a care in the world. The emotion we show, the things we think and the worries we have just show how deeply we love our kids and how desperately we wish for better for them.