October is Rett Syndrome awareness month so I think it’s only right that I get involved and write some pieces for the chance that more people can be aware of this condition that affects mostly girls.
A few words can change somebody’s entire life. A diagnosis in a few words on paper that quietly states ‘This is your entire life now’. I truly believe that in any situation unless you’re standing directly in that person’s shoes, you have no idea what it truly is like. I go through my own medical dramas which is a story for another day and as much as they plague me, i’d never wish for anyone to be told in a room by themselves (Only one parent allowed to accompany your child) in the height of the Covid pandemic that their child has a life altering diagnosis that will change you and your families life forever in the best and worst ways. This story isn’t all doom and gloom but it’s ours.
November 21st 2021 @ 2pm. Some dates and times last with you forever and the day I had to go home to my then partner and Cassie’s dad to explain that our daughter has been diagnosed with a syndrome that will get worse over the years and commonly doesn’t give her an old life span was easily one of the hardest things I’ve ever had to do. Over the coming months i’d be back and forth with professionals quadruple checking that it was the correct diagnosis just in case they had gotten it wrong. Surely this wasn’t real? It didn’t feel real but felt all too real at the same time. I just became numb inside, not sure how to feel or what my next steps were. I was 23 and being told this, as much as I was used to being a mum at this point, I wasn’t used to this new life I was going to have with therapies, constant appointments, controlled medications and having to hide the emotional affect this all had on us because we had to get on with it for our girl.I couldn’t decide at this point what was more petrifying, the fear that we would outlive our child or that they would outlive us and not have us around to care for them anymore. I’ve still not decided which version of that scares me more.
‘Chromosomes studies (array) show that she has loss of material from the X chromosome at Xq21.1q28 with deletion of the MECP2 gene and adjacent genes including IKBKG and FLNA. Heterozygous MEPC2 loss in females causes Rett Syndrome while loss of function mutations involving FLNA can also affect brain development causing periventricular heterotopia’
That’s the statement we received word for word that would change everything. That will mean a whole lot of nothing to most people but basically it means that my child wouldn’t have a typical life. She was already diagnosed with Asymmetric spastic diplegic cerebral palsy due to PVL changes in her brain from trauma during labour so we already knew it wouldn’t be the picture of health but nothing prepared us for that.
What was Rett Syndrome? Did you know? We didn’t. We weren’t given any information about it no matter how many questions I asked during that appointment. No leaflets, no advice just ‘there’s probably support groups out there somewhere’. I was 24 with my own medical diagnosis the length of my arm with 2 children under 4 and I had to just carry on like nothing had happened. That night I went home, told my partner and then I made everyone’s tea, we did baths, bedtimes and carried on because we had to, nobody else was going to do it for us.
We do have wonderful family and friends on our side and being there for emotional support but none that could take this pain away from us or say anything that made this better for us which I can imagine was really frustrating for them seeing us go through this and feeling just helpless.. I’ve always shared things on the media because I realised quickly that nobody knew what Rett Syndrome was and I thought even if one person reads those words and looks it up then that’s one person more that might understand what these individuals go through. One person saw it, then another and one of those people was the founder of a charity called Reverse Rett that raises money to help the individuals and families associated with Rett Syndrome, funding vital research towards a cure for girls like mine to hopefully one day Reverse Rett. They messaged me and offered me so much support, directed me to genuine support groups, people in my country going through the same things etc and I’ll forever be thankful for the guidance they still give me to this day no matter the ridiculous time i’ve got in contact with them.
When you have a baby, you don’t expect these things to actually happen to you.. You imagine a life in your head that you expect you will have and as much as I love my life which I do feel really blessed in, it’s not the life I imagined. They described it to me as ‘grieving the life you thought you and your child would have’. Grief sounds like a really strong word to use but it’s very accurate to describe the process because the parent you were before dies, you need to start a parenting journey and that old person, the old dreams and things you thought your child would have are gone. We aren’t taught about all the things that can happen to your children and the long medical terms you won’t understand properly. We hear the same list of conditions that can occur but Rett Syndrome wasn’t on my life bingo card, yet in a really strange way I’m so glad it was.
I always say this, Spencer taught me all my firsts and we made all the mistakes together, learned things with and he was the boy that gave me my dream of being a mum when I was told there was no hope. Cassie taught me strength, resilience and how to keep fighting like your life depends on it and Aleah reminded me to have fun while I do it and to stop taking life so seriously all the time. I needed my children exactly the way they are to make me into the person and Mum I wanted to be. I’d never be who I am without my children shaping me into that, I owe everything I am and will ever be to them. I needed them before they ever needed me.
There are negatives in having a family life like mine, like there is for every family but this isn’t all doom and gloom. My daughter is capable of so many things that people don’t realise or see within her. It sounds awful but not a lot of people really bother with Cassie and tend to keep their distance. I’m not sure if it’s out of fear of doing the wrong thing or simply because they aren’t interested because there’s not many people who have children that are on the same wavelength as Cassie is so we can’t go to the same places, do the same things or talk about our children meeting their milestones.
But, let me tell you about the things about my daughter that make my heart swell.
Cassie used to need me to do the rhyme ‘Round and round the garden’ drawing circles on her hands as a baby to get her to sleep. She’s seven now and the one thing that calms her down is drawing circles on her hand still I’ve also lost count of the amount of times I’ve sang ‘You are my sunshine’ to her. It would always have to be the Johnny Cash version though or i’d have it in for me. At least she has good taste. Cassie has always given what I’ve always called ‘aggressive kisses’. She will grab your face and give you kisses or want you to give her lots of kisses. She has the most infectious laugh in the world that can make you stop whatever you’re doing just to laugh, smile or just to watch her have those moments of pure happiness where nothing else matters. She likes dancing. I used to carry her around and dance with her around the living room spinning around. Now with her height and my lack of height it’s a bit more tricky to do it as often as i’d like. Nowadays she finds it funny to make me do the dance routines from The Wiggles. I have no rhythm whatsoever so I can understand why she finds this so amusing. She is a really social person and she definitely didn’t get that from me. Cassie loves meeting new people (especially men I won’t lie), is super smiley and just wants them to play with her, look at what she’s doing or have a cuddle. She loves being outside, with people and just exploring the world. It’s really rewarding just seeing the world through her eyes and seeing her face light up. She especially loves the wind. Full blown wind in your face and my eyes are streaming, not Cassie. She absolutely loves it and happily dances if any blows in her face. She’s a complete adrenaline chaser. The faster the roundabout, the higher the swing or going the speed limit on the motorway are things that make her really happy. We’ve actually had experiences where she uses play equipment in the house and makes us spin her so much that she ends up feeling sick but will then shout at you or scream until you do it again. Cassie really loves drawing, and chewing the pen but let’s be fair I spent the whole of high school impulsively chewing my pens and my childhood best friend’s pens she would need to let me borrow every day in maths.. (Sorry Katrina). Cassie has always been fascinated by lights. We put the blinds down to make it as dark as possible, she goes into her swinging hammock then we put our galaxy lights on with stars and the kids all just love it. To be honest I do too. After a stressful day, that’s the right kind of atmosphere I need when I’ve got a mum bun, trying to get a warmish coffee and breathe for a small second.. Usually it’s done with her brother singing ‘Life is a highway’ or Christmas songs while running back and forth full pelt though.
My life isn’t simple, In fact it’s far from it. It runs like a military operation and the slightest movement needs planning, organising and needs to try to run as close to the plan as possible or things can really go south. But this life is my life and I’ll spend it fighting for all of my children to have the best opportunities in life. So if you’re tired of hearing me talk about Rett Syndrome? Good. Cassie gets tired of it too and I’m hoping the right person will one day see myself with all the mums ranting on so that they help us make this world different for our girls and all the ones to come. We can’t hear our daughters’ voices, but we sure as hell use ours louder for them.
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