Precious Moments

Alex Braun

“When a physiotherapy session turns into an impromptu cosy cuddle whilst exploring what a stubbly face feels like”

All too often rare disease or medical journeys can be hard, but even in the hardest weeks there are precious moments to be had. An unexpected smile from a loved one who is struggling, the smile that tells you that they’ve got this. An impromptu cuddle in the middle of a busy day. Seeing those you love share their own special moment. It is moments like these that can sustain us through those harder times.

Image courtesy of Alex Braun

Image courtesy of Amy Towers

Claire Bradshaw >

“If smile could be my middle name, well Mummy would have it cemented in stone, Kaycee Smiler Bradshaw” < Amy Towers

“This was taken the day we left hospital and got the all clear on Harry’s heart after a lot of worry he had a heart abnormality. He even got an Easter Egg for being such a good patient”

Image courtesy of Claire Bradshaw

< Kim Gadsby

“Siblings, a brother and sister, love speaks a thousand words! Cuddles we never thought we would get”

Image courtesy of Kim Gadsby

Celebrate your way

Reflections on learning how to celebrate special occasions

Article contributed by Annie Dewhurst

Illustration for Rarity Life by Annie Dewhurst

It took a while for us to find out what worked when it comes to tackling special occasions, because they can be a little overwhelming for our poppet –

lots of noise, people, change of routine, change of environment, the list goes on.

It’s been a learning curve, that’s for sure. Sometimes things have gone surprisingly well. Other times not so. But that’s life, isn’t it? It’s not all plain sailing. Sometimes other people’s expectations of our kids (or us as parents) can be unrealistically high. Routines change, visitors may come and go. It can be an overload of the senses. Sometimes our poppets don’t react as we or others anticipate. Sometimes too many presents and new things are simply too much. Sometimes, the day or event is a washout for various reasons, ones we couldn’t plan for. Sometimes we can’t visit others. Sometimes we can’t stay. Sometimes we don’t even get invited. Sometimes we may get an unannounced visit. Sometimes people stay too long. Sometimes we can’t be with the people we love. Sometimes we have to cancel last minute. Sometimes things happen and we’re late. Sometimes our poppets want to retreat. Sometimes I want to retreat, I’m not really a social butterfly these days! That’s a whole plethora of sometimes, isn’t it? That can put huge extra, and unnecessary, pressure on children, young people and families like ours. There’ve been times when I’ve felt my child and I are very much alone…and that’s in a room full of people. There have been times when I’ve felt we’ve been invited as we’d be a novelty. There are times when we’ve sat in a corner, just watching the event unfold in the distance. Happy to be there, saddened we can’t be involved, or not included, then relieved to go home. There have been times where we’ve been genuinely welcomed and accepted by complete strangers. No novelty attached. Sad to go home. Sometimes occasions have been fabulous. Sometimes cringeworthy. Sometimes not being invited has hurt, deeply. Sometimes not being invited has been a HUGE relief. Sometimes being invited hasn’t been great… again, lots of sometimes.

It’s all been trial and error, really. Who’d have thought special occasions could be a learning curve? But they have.

Hannah:

Hannah was diagnosed with Cornelia de Lange Syndrome whilst still a baby. CdLS affects between 1 in 10,000 to 30,000 live births and is present at birth. Individuals may display physical, intellectual and behavioural characteristics. However, it can be widely variable and not all people with the condition will show all of the aspects. For more information visit www.cdlsworld.org which can signpost to the different Foundations.\If based in the UK you can find out more at www.cdls.org.uk. The first International consensus statement - treatment and diagnosis protocol is linked here: https://www.cdls.org.uk/ treatment-guidelines/ We’ve learned who’s inclusive, who’s not, what suits our girl, what suits us, what to avoid, what to try again. For any family starting out on their own rare journey and new to venturing out into the world of celebrations (or staying in for that matter), I’d say we’re all gloriously unique; ergo what suits one person or family, may not suit another. Over the years I’ve learned. Lots. These days, being quite a few years into our rare journey, I’ve learned trying to please everyone outside our little unit doesn’t always work. If it doesn’t feel right, then it doesn’t happen. No pressure. I’ve learned to say “thanks, but no thanks”. I’ve also learned to say (if I genuinely mean it) “thanks, but no thanks, but please keep inviting us”. Furthermore, I’ve learned to make a sharp exit when necessary. I’ve also learned it’s okay not to invite everyone that other people expect you to invite. I refused to be a people pleaser long ago! I’ve learned less is best. I’ve learned sometimes a trial run is in order. So, perhaps, if a special outfit is required, we’ll do a trial run – being extremely mindful of removing any substances (food, juice, crayons etc) within a 10 mile radius that could stain a fancy frock. And I’ve also learned that it’s quite possible I may not always return home in clean attire myself. Because you know; sticky paws (my child), food or drinks thrown (my child), rolling around on a floor trying to change a child’s pad (me and my child), and reflux (child) might just all make me a little mucky too. Gift giving is now spread out… over hours or days. I’ve learned my child quickly loses interest in a present covered with wrapping paper that doesn’t rip, or stuck with a thousand miles of sticky tape. I’ve learned its always best for others to ask what’s suitable when buying a present. So, say, for a child (mine) who likes to eat play-doh, it isn’t a particularly good idea to buy said child play-doh, is it? I’ve learned it’s okay not to always come up with a suggestion for a gift when someone (kindly) asks what my child might like or need. I’ve learned that packing (and remembering everything) to go out for an event can be a total, but necessary, drag and feel like you’re packing for a fortnights holiday. I’ve also learned not to forget anything! Over the years I’ve also learned that sometimes less is more. I’ve learned that it’s absolutely fabulous to go on holiday and escape the additional, unnecessary (sometimes) pressures of Christmas. I’ve learned that staying home can be lovelier than going out, that it’s okay to stay home and not adhere to others’ expectations. I’ve learned if they don’t understand, then they’re not your people.

Illustration for Rarity Life by Annie Dewhurst

I’ve learned that we will never have a typical children’s party because my girl has no friends. I’m absolutely okay with that, because she’s absolutely okay with it. I’ve learned to go with the flow and sometimes lower expectations – if things don’t go to plan, then they don’t go to plan. It’s not the end of the world. Whether glorious, memorable, exhausting, annoying, cringeworthy, dreadful or whatever, celebrations have certainly taught me a great deal. If you’re just starting out on your rare journey, take none of this as advice from me. Do what feels okay for you and your family. Do try things though. If they don’t work, and they’re not right, then it’s a learning curve. Things may be okay another time. Whatever the celebration, I truly hope you all have the loveliest of times. What I do advise though is, take photos, cherish those memories. Annie:

Annie writes a brilliant blog on Facebook, which is full of her candid and often humorous insights to their world. You can find her by searching for ‘My kid loves broccoli.’

She has also written, and co-written, books, we’ve included the details below:

Cornelia de Lange Syndrome – A Shared Journey: https://www.amazon.co.uk/ Cornelia-Lange-Syndrome-Shared-Journey/dp/ B09MYTK86Z/ref=tmm_pap_ swatch_0?_encoding=UTF8&qid=1639848104&sr=8-1

The (little) Book of Broccoli: https://www.amazon. co.uk/Little-Book-BroccoliDoodles-Journey-ebook/dp/ B092TMFD87