A Failing System

I began this post a few weeks ago, before things escalated with Alba's breathing and the seizures started. Now more than ever, I feel this is something I need to share - not just for us but for all the other families going through hell trying to navigate life with a system that's totally failing them.

It's been a while since I last wrote. In fact since we got Alba's diagnosis. I've written quite a lot down in my notebook/journal but haven't really known what to share. There's a lot of darkness at the moment and it sometimes feels safe to just note it down for another day, sharing snippets with photos as and when it feels right. I'm very aware of sounding too down and dull, but I think some days that's the reality, and I think that's totally normal. One thing that has been on my mind recently is the system in the UK, or the lack of. I try not to dwell too much on the lack of support because it feels like wasted energy as there's nothing I can do to change it. But actually unless you need it, you have no idea how flawed it is.

Whilst driving to work a couple of weeks ago I had a sudden thought that this world we are now surviving in feels like we've been dropped on a desert island. Almost like we were on a very happy family cruise with sunshine, music, laughter, good food and plenty of smiles. The water got a bit choppy and maybe we got a bit seasick, but it would pass and the sun would shine again, the water calm. Then off we went on a day trip in a small boat with the health visitor, who reeled through tonnes of questions about Alba's development as we got closer and closer to a tiny island. For each question we had to answer 'no she can't do that' to, we got a little bit closer. At the end of the list she tells us she's going to make various referrals, is concerned about Alba's development and she'll be back in a few days for us. Off she sails into the sunset, leaving us alone on the little desert island. Days pass. Weeks pass. Even months. We hear nothing from her and cannot spot her boat on the horizon. Various specialists pop by on a paddle board or a dingy, tell us everything is 'normal' and off they pop. In between visits we see cruise ships full of happy families having a wonderful time, bathed in golden light. Whilst we are covered in a dark cloud, alone. We see the other families celebrating milestones being reached, watching their toddlers take their first steps and listening to first words and phrases forming, longing to be with them.

As time goes on, the cruise ships keep passing but some days it's easier to watch. You learn to find your own way of surviving on that island and making your own fun. Sometimes those families may visit your island, and you all have fun together, but then they leave. Some days are bright and the sun shines and everyone is happy. Some days the rain comes and you're not so happy. Sometimes the days meet and rainbows appear. The visitors and professionals keep coming, some bring supplies and words of wisdom - some snippets of things that may help and suggestions of how to help her progress. But they always leave and visits are months apart. Communication is incredibly difficult. Perhaps writing the odd letter on scraps of paper, sending them off with departing visitors and hoping they'll get to the right place and that you might get a response.

And then one day, you hear from the paediatrician and she's coming for you! You count down the days, longing to be told that she's got a way out - that actually things will just settle and you'll be back to that happy family cruise in no time. The day arrives and there she is all smiles, chatting about the progress being made. But then she tells you that your daughter has an incredibly rare genetic condition, one that cannot be cured. She leaves you with a filofax full of terrifying 'information' and off she sails, just like everyone else.

During the past few weeks, we've never felt more alone and helpless. I genuinely cannot get my head around the fact that there is no emotional support available. The whole process from raising our concerns 18 months ago to receiving a diagnosis was bad enough. But now trying to navigate a diagnosis where paramedics, nurses and even paediatric doctors haven't heard of your child's condition is terrifying. We have felt as though shoulders have been shrugged in our faces of pure worry and desperation. They 'fixed' the immediate problem and can't do anymore. We walked into hospital because Alba's breathing was so erratic (a classic symptom of Rett) and she was going totally floppy and not breathing for 10-20 seconds at a time. We left 5 days later having witnessed our 3 year old have 3 huge seizures (and continue to have them throughout the following nights, just not as severe), watched her struggle to drink with a straw after being given emergency meds to calm the seizures, spent 5 nights with barely any sleep on fold out chair beds, constantly asking why her breathing was weird and making her go dizzy and looking like she'd taken something, spent 24 hours with her head hooked up to tonnes of wires all connected to a little box, watched her being poked and prodded every night for temperature and breathing checks, started her on what will probably be lifelong medication.

The torture of no sleep is one thing, but add everything else into the mix to then be handed a discharge letter and told 'you can go now', just dropped into a whole new level of fear, uncertainty and worry. With nothing. I had to even ask for Alba's new medication, to which the nurse responded "Oh, is it a new thing? She wasn't taking it before?". And now we wait. We wait to visit a clinic we self referred to, one we found out about through other families and Reverse Rett after pleading for help on the Facebook group. Not something anyone in hospital was able to suggest. We've spent almost 2 weeks at home now analysing every little thing Alba does, watching her exhaust herself by breathing in a way she cannot control. Desperate for support, reaching out to everyone we possibly can and aside from chatting to other Rett families, there is NOTHING available for our mental wellbeing, we've sought out a private counsellor. The guys at Reverse Rett have been absolute angels, and helped us try to apply some sort of order to the mess in our minds. Oh, and because we now fall under the epilepsy umbrella, apparently there is funding for mental health support there. How great. We just have to wait for that referral...

If this time has taught me anything, it's how valuable true friends and family are. The family who have cooked us meals, visited in hospital, stayed over and offered morning respite, taken Alba for a few hours to give us some space. The friends who have delivered care packages and more food, not lingering to chat or impose, just wanting to help. The daily messages from friends and colleagues, checking in and offering support in any way they can. We have friends who are going through the darkest time of their lives right now yet all they want to do is support us. The void left by a failing system is vast, and something I vow to fight as soon as I have the brain space and strength. But for now those true angels in our lives are making things ever so slightly brighter.

We're still well and truly stuck on that island, and if anything it's somehow drifted even further from civilisation. But I have hope that soon we may find the sunshine, the laughter and smiles again. I read a comment the other day that said 'Pain is inevitable, but misery is optional'. That's where I'm aiming to be.

If you've made it through all this gloom and darkness, I'd like to ask you to donate to our Just Giving page to raise money for Reverse Rett. There's so much going on in the world of science around treatments and even possible cures for Rett Syndrome - please help us raise as much as we can and get us off this island!

https://www.justgiving.com/fundraising/megan-dan-alba