HANNAH
Hannah is diagnosed with Cornelia de Lange Syndrome.
She also has a number of other conditions which are more than likely associated with her syndrome: A bilateral SVC (heart defect), Cleft Palate, small hands and feet, fixed flexion contractors of the elbows, Pierre Robin Sequence, moderate hearing loss, global developmental delay and learning difficulties. Hannah and her family joined us in the studio to talk about their experience of this rare disease.
“Hannah is significantly smaller in stature than an average child and although she’s around the size of a petite four year old, her physical strength is immense…as is her willpower!”
“She’s non-verbal, has limited means of effective communication, a sensory processing disorder and she also displays some autistic-type behaviours; Hannah is a sensory seeker.”
Hannah smiles into the camera at her photoshoot in 2019 - all photographs by Ceridwen Hughes
“She was initially fed by NG tube as she had no gag reflex. Then, in 2010, she had an operation to repair her cleft. The surgery apparently went well, however, shortly after being returned to her hospital bed, she had a post-operative bleed, choked on her own blood and her heart stopped beating.”.
“Hannah was precious even before she was born, but she’s even more precious now…and we now have first-hand experience of the fragility of life and how it can be taken away from us any second”.
“Despite her being non-verbal, significantly developmentally delayed and, at times, preferring to be in her own world, we really feel blessed that Hannah is accepted just the way she is by her friends.”
Hannah’s syndrome affects most aspects of her life. As she totally dependent on an adult for her needs, her condition has a huge impact on her parents too, particularly as Hannah likes to put anything and everything into her month.
Hannah with her mum and dad back in 2019
“Children, in general, but not all, are very accepting and accommodating. Sadly, this isn’t always the case about adults. When we’re out and about with Hannah, we come across all kinds of people – lovely ones who’ll speak to Hannah even if she can’t respond, who’ll ask in as nice a way as they can what she’s diagnosed with and how that impacts on her - or the ones who smile, genuinely smile, as they’re simply walking past us. The genuine smilers get me every time and often leave a lump in my throat!”
“Sadly though, there are people out there who seem to lack any empathy or understanding whatsoever. The ones who walk in front of Hannah’s wheelchair or swing their bags at her face level, the ones who leave me struggling to get through a door (the list is endless). For me, the starers are the worst. On good days, I’ll ignore it and forgive their ignorance. On not so good days I may feel the need to stare back”.
“Hannah loves exploring her surroundings and has a curious nature too. If you give her a piece of chalk to draw with, she won’t just ‘mark-make’, she’ll roll the chalk, stand it up, spin it round, feel it between her hands, taste it, throw it and she’ll find a whole host of other things to do with it too”.
Hannah looks into camera at her 2023 photoshoot
We asked Hannah’s parents why they wanted to take part in the Rare project:
“We want to let other families, just starting out on their own journeys who’re dealing with the devastating blow of a new, life changing diagnosis, that there CAN be life after this diagnosis. Our children in Ceridwen’s photographs and the Rare Project are unquestionably proof of that.”
Our ultimate wish is that Hannah is seen as a little girl FIRST. Her disabilities affect her every-day and there’s no getting away from that fact, but they most certainly don’t define her. She’s not a medical diagnosis. She’s Hannah”.
With grateful support from:-
FIND OUT MORE
‘MY KID LOVES BROCCOLI’
Inspired by Hannahs’ favourite food, her mother (Alice) titled her blog ‘My Kid Loves Broccoli’, a blog designed to help other parents and carers - especially those affected by CdLS - just starting out on their own rare disease journey as well as encourage people to ‘think outside the box’ and gently alter attitudes towards children with additional needs.
To access Alice’s encouraging blog, click here.
Hannah and Alice also have a facebook page - access by clicking here.
CORNELIA DE LANGE SYNDROME
Cornelia de Lange Syndrome is a rare genetic congenital syndrome which, current statistics suggest, affects around one in 40,000 to one in 100,000 live births (on average, 100 times rarer than having a child with Down’s syndrome).
In 1916 Dr W. Brachmann, a German Paediatrician, wrote a paper about a patient with specific characteristics. In 1933, Dr Cornelia de Lange, a pioneering Dutch Paediatrician, also wrote a paper which described two children with similar features to Dr Brachmann’s patient. In the medical world, the syndrome is commonly termed as Cornelia de Lange Syndrome or CdLS however, it’s also been referred to as Brachmann de Lange Syndrome or even Amsterdam Dwarfism.
Currently, no one knows what causes CdLS and diagnosis is normally through genetic evaluation. The syndrome has serious physical and developmental implications, but isn’t life limiting in itself. There are, however, a number of associated medical conditions which could lead to death including twisted bowels, intestinal obstructions and malrotation, pneumonia, heart defects, congenital diaphragmatic hernia and insufficient lung developments due to prematurity.
To learn more about Cornelia de Lange Syndrome, click here.
Source: https://mykidlovesbroccoli.wordpress.com/cornelia-de-lange-syndrome/
CDLS FOUNDATION UK & IRELAND
The CdLS Foundation UK & Ireland is part of a Federation of CdLS family support groups around the world. These groups have a common mission:
"The CdLS Foundation UK & Ireland is a family support organisation which exists to ensure early and accurate diagnosis of CdLS throughout the world, promoting research, and enabling individuals, families, friends and professionals make informed decisions and plan for the affected person’s present and future."
In the UK & Ireland the Foundation is run entirely by volunteers - including parents and professionals, plus a part-time Office Administrator.
To find out more about the CdLS Foundation UK & Ireland and how they can support you, click here.
Source: http://www.cdls.org.uk
You can read about some of the other people taking part in the Rare Project by clicking here.
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