Grief and Genetics

Grief: intense sorrow, especially caused by someone's death.

We will all experience grief in our lives. Perhaps at a young age, from a pet passing away or losing an elderly grandparent. Or as we get older - losing friends and family. But we have learnt very quickly that grief doesn’t just exist in death. It feels as though the definition should be ‘intense sorrow, especially caused by loss’.

A few months after Alba was born, I grieved the loss of my identity. I didn’t know who I was anymore and felt I’d completely lost the person I had been before I had her. I couldn’t do lots of the things I used to do, couldn’t wear some of the things I used to because they weren’t breast feeding friendly, my body looked and felt different, and it felt as though my sole purpose was to keep my baby alive. As time moved on (and we came out of lockdown!) I began to get tiny bits of me back, but also learned to adapt and evolved into a newer version of me. Not necessarily better or worse, just different. Those feelings of grief slipped away. Don’t get me wrong, I often dream of having a weekend to myself in pre-Alba times, but it doesn’t get to me as much anymore.

I’ve experienced grief through losing loved ones, but I’ve never experienced it on the level I have since Alba’s diagnosis. It’s such a weird thing, to grieve for a child that’s still there, but in many ways you’ve lost them too. We are ‘lucky’ in the sense that Alba didn’t lose too many skills during her regression because she had never gained them in the first place. But I find it intensely painful to look back at old photos of her, particularly in those first 18 months before we started investigating. I look at those photos and grieve for a child that no longer exists, for a little girl that was going to annoy me with her questions and constant chatting, that would giggle and shout ‘higher’ as we pushed her on the swings, that would run away from us at bath time and ask for ‘just one more’ bite of chocolate. A little girl that we would walk to the local school, that would run through the gates at the end of the day and jump into our arms, with a folder full of books and maybe homework. A little girl that would insist on dressing herself, picking out the most wonderful, clashing outfits.

I grieve for those days, weeks and months where she was just our baby girl, learning to smile, giggle and hold things.

I also grieve for the unknown. And death is unfortunately a huge part of the Rett community. At the moment, I fear losing her most days. The terrifying breathing episodes she has have had my fingers fumbling for 999, frantically trying to remember how to apply CPR to a child rather than an adult. Panicking that I won’t remember or won’t be able to help. Today during a phone call with the clinic was the first time I heard the words fall out of Dan’s mouth too, the first time I’ve heard him say them. ‘I’m really scared, I’m scared that she’s going to die’. And in that moment my heart stopped - for hearing the words out loud, but also for the confirmation I’m not alone in feeling this fear.

At least once a month we hear of another life lost to Rett. And most of them aren’t much older than Alba. This is why I cannot emphasise enough how desperate we are for Gene Therapy, and how important it is to keep spreading awareness and fundraising in order to help keep the trials going. And to help keep our girls safe and healthy, and make sure as many of them benefit from gene therapy as is possible. And to make sure the number of families left grieving is made smaller and smaller.