Diagnosis

Social media is mostly full of happy highlights of life. This post is far from one of those. I started this blog to document our journey and highlight that life isn't always peachy. You can be thrown unexpected and unplanned curveballs and end up living a life far different from the one you had imagined. I felt incredibly lonely and isolated and wanted to create a place others may find some solidarity and peace in knowing someone feels the same way as them. I'm not saying those feeling have changed, but having an outlet has definitely helped.

Back in June we had bloods taken (from Alba and from both of us) that were sent of for genetic screening. Last week we finally received the results. They showed that Alba has Rett Syndrome. I feel as though if I don't say it out loud it's not real, not happening. But it is. I don't want to upset or offend anyone receiving this news via a written post, but I want you all to know that this is the shittest conversation we've ever had to have, and having it over and over again is just brutal. I hope you understand this is just the easiest way to let you all know.

I'm not going to go into details of Rett Syndrome, I imagine most of you will head straight to Google anyway. It's not pleasant and we're still digesting and figuring out how to move forwards, taking it day by day. I came across a little girl with Rett about 8/9 months ago on Instagram. I knew pretty much straight away this was probably what was going on with Alba. The similarities were uncanny. After a few furious googling sessions I decided to try and push it to the back of my mind until we knew for sure. I hoped I was wrong. We've been told the Rett is a spectrum condition, so cases vary between individuals. I think this is vital in enabling us to move forwards. We now know there are certain things Alba will never do, but there are others that she might. Hope is the only thing to cling onto right now.

Although Rett Syndrome is a genetic condition, it wasn't inherited from us. This means that if we have more kids the chances of them having Rett are the same as Alba - around 1 in 10,000. Isn't that just mad? On the one had it feels so unbelievably unfair to her and us that we are that 1 in 10,000. How can couples have tonnes of kids and they're all totally perfectly normal? My Mum said to me that Alba is our 1 in 10,000 and she chose us. She was always going to be the Alba we know and love, and she's ours and we are hers. Another slightly happier thought to bank against the shitstorm this is.

Right now emotions are high, I think we're both constantly on the edge. Our close family and friends have been incredibly supportive and once again I'm reminded of how bloody lucky we are to have that network of support. Yet I also feel like we're the unluckiest family to have been put in this situation in the first place. I imagine most of you will want to reach out but won't want to say the wrong thing. I'd be the same. But please know that right now there is no wrong. We may not reply but words of love and support are very much welcomed. I'm usually a glass half full person, but I'm struggling at the moment to see my way through to a place where things feel easier. I've been promised they will get easier.

I have 2 requests from you all. Firstly, please keep inviting us to things and keep in touch. We may not be feeling on top of our sociable game right now, but the last thing we want or need to to isolate ourselves even more. Don't be afraid to ask us to get together with you and your kids.

I would also like to ask you all to consider donating to Rett UK or Reverse Rett (or any other supporting charity!) I know Christmas is often a time where we donate to charities for whatever reason, and if you're struggling to decide this year then please consider Rett UK. There is no cure for Rett, but there's all sorts of research into gene therapy, technology and support for families. Currently there are only around 2500 people in the UK living with Rett Syndrome. I'll put money on most of you having never heard of it before. Please help us do what we can to spread awareness and pump some positivity into this truly crappy situation.

When I feel strong enough to start reading and educating myself, I'll continue to share our journey with you.

Until then, big love to you all. Give your kids an extra tight squeeze in the morning. You never know when your life could be flipped upside down.

Dan, Megs and Albs xxx