How your money helps: meet Natasha

Natasha has Kniest syndrome, one of the rarest forms of dwarfism – only 100 people in the world have this form and Natasha has never met someone with the same condition. Those affected have a short trunk, arms and legs, hearing and vision problems, and severe mobility problems.

Natasha with her mum Grace

Diagnosed shortly after birth, Natasha is now 12 but is the height of an average 4 year old. Her hips and ankles are now too unstable for her to walk and she will need a double hip replacement when she has stopped growing. She uses a power wheelchair at school, and can fall very easily when she is out of her wheelchair. Kniest syndrome also causes curvature of the spine which can compress the heart and lungs; Natasha has had three operations to improve the curvature and prevent deterioration. She has to sleep with a ventilator every night.

Natasha with her mum Grace

Despite her struggles, Natasha’s mum Grace says; ‘Natasha is a very well-adjusted and happy girl. She is in mainstream school and is a high academic achiever. She loves science. Stephen Hawking is her role model. She wants to be a physicist when she grows up. She’s a fantastic little girl.’

Natasha with her mum Grace

This year the monies you’ve raised by taking part in Jeans for Genes Day will fund a residential weekend for the charity Little People UK. The weekend will bring together children with growth disorders, like Natasha, to enjoy different activities including a high ropes course, bouldering and buggy riding.

Don’t forget to pay in your Jeans for Genes Day donations – and, if you haven’t already, it’s not too late to hold a Jeans for Genes Day to support children like Natasha.

Make a noise about bullying!

From 16-20 November it is anti-bullying week, and this year we’re asking you to make a noise about bullying! It’s the perfect opportunity to educate everyone in understanding and accepting difference (and hold a Jeans for Genes Day if you haven’t already!)


We’ve developed a range a free educational resources including assemblies, films and activities for every age group. Our compelling and engaging films are narrated by children and have a range of resources to accompany them for all key stages. You can download all of our resources for free on the Jeans for Genes Day website.

free assemblies

Children with genetic disorders can often experience bullying, but our range of films can help other children to accept difference. Tom has a premature ageing condition called Cockayne Syndrome. Tom and his sister Ellie talk about how words and expressions have hurt him in the past.


Watch Tom and Ellie’s story here

Carys and George both have Achondroplasia (sometimes referred to as dwarfism) and have experienced bullying as a result.


Discover their story here

Join the fight and make some noise about bullying this week! Share your anti-bullying messages with us on Twitter using #Antibullyingweek and help us to highlight the importance of accepting difference.

How your support helps: meet James

It was the silence that Michelle noticed first when her third child James was born. Her newborn did not make a single sound. He was immediately whisked off to special care and Michelle did not see her baby for the first 12 hours. James had imbalanced blood sugar, no sucking reflex and couldn’t open his hands or move his head. At just 3 days old he had MRI and CT scans before a geneticist was called to assess him.

Michelle says: ‘My husband and I were in bits. We didn’t know what to expect. We didn’t know if James was going to make it or not. It was a harrowing time’.

James with mum Michelle

James was finally diagnosed at 9 months old, with Sotos syndrome, a rare genetic disorder that causes overgrowth, developmental delay and affects mobility. Children with Sotos syndrome are usually very tall, heavy and have a larger head, as well as low muscle tone. The syndrome affects 1 in 20,000 children.

James with mum Michelle and dad Scott

Now at 3 years old, James wears clothes for a 5-6 year old, yet has the developmental age of a child at just 12 months. He has just started walking with support but does get tired very quickly. He also suffers from more coughs and colds than other children. Despite this, James is a happy smiley boy and has made real progress; he can open his hands out and reach for things, and is able to use a sensory app on the iPad to make choices. Although there is a lot of uncertainty about Sotos syndrome, James is lucky to receive lots of support.

James with sister Emma

The money raised this Jeans for Genes Day will go towards funding a crèche and evening entertainment at the Child Growth Foundation’s annual convention. The convention enables families with an affected child to meet other parents in the same situation, and is a lifeline for those families feeling isolated.

You can help children like James by paying in your Jeans for Genes Day donation today – or holding a Jeans for Genes Day if you haven’t already!

Jeans for Genes Day 2015!

The twentieth ever Jeans for Genes Day was held on Friday 18th September 2015, and saw record numbers of you donning your denim to support children with genetic disorders across the UK.

Case Study Children Collage 2015

From toddlers at nursery, to retired older folk, a sea of denim swept the nation all to raise money to provide the vital care and support services children affected by genetic disorders and their families so urgently need.

Here are just some of the best photos of you doing something extraordinary in jeans on Friday 18th September!

Supporter collage 2015

On behalf of all the children and families we support, we want to say a massive thank you to everyone who took part in Jeans for Genes Day 2015!

Don’t forget to pay in your donations if you haven’t already. Check out all the ways to donate over on our website.

P.S. If you haven’t had a chance to hold a Jeans for Genes Day yet, there is still time – you can hold one at any time of year, just sign up for your free fundraising kit on our website.

Guest blog: mum and Jeans for Genes supporter Stacey shares her story

February 14th, Valentine’s Day 2014 was a Valentine’s like no other. We were telephoned by our geneticist’s secretary the week before and invited up to the hospital for a meeting; to us this was a general catch up appointment as they had misdiagnosed our daughter, Imogen, the month before. Walking into that consultation room my heart hit the floor because we were greeted not only by Imogen’s geneticist, but another geneticist from the hospital, a paediatrician and a counsellor. Then, the discussion I’ll never forget began…image6

‘As you are aware we tested Imogen for Alagille syndrome which came back negative…so we did more research into Imogen’s symptoms and tested for another syndrome. This has come back positive, Imogen has Myhre syndrome’.

At this point I could not hold back the tears and broke down, not from sadness but from relief; our precious little daughter finally had a diagnosis. The geneticist then began to explain to me about the syndrome, firstly that it was extremely rare and Imogen was the youngest ever diagnosed, she was the only child in the UK known to have this syndrome and she was number 33 in the world!

Due to the syndrome being so rare, the geneticists were very vague about Myhre, they themselves had to research the syndrome before our discussion. They could only tell us about the literature they had read. They handed me some printed out papers they had found online and offered us counselling. We left the consultation room with our heads in a whirl wind…and so our journey truly began.


Myhre syndrome is an extremely rare, autosomal dominant genetic condition. It is caused by a genetic misprint or mutation in a gene called SMAD4. Myhre syndrome affects many functions of the body.  This is because the SMAD4 gene is part of an important cell signalling pathway, which allows cells in the body to communicate with each other. When the communication (signalling) is abnormal it affects the development of many body systems – which explains why Imogen has many, varied, symptoms and features.

Imogen has many professionals involved in her care each managing a different aspect of her condition. A few of the professionals she sees most regularly include physiotherapists, speech and language specialists, cardiologists, and feeding and swallowing specialists.


Imogen wears a DMO (Dynamic Movement orthoses) suit for her scoliosis, leg splints, hearing aids, glasses (when she will tolerate them) and has regular medication. Despite all that Imogen has to deal with, she is the happiest little girl and is full of energy. She enjoys going out with her friends and has a good sense of humour. She is outgoing, determined and truly independent. She makes us smile and very proud every second of every day. Imogen is our little princess.

Jeans for Genes and Genetic Disorders UK provide vital care and support services for children with genetic disorders in the UK like Imogen. Read more about our work at

Win celebrity jeans with The Sun!

To celebrate Jeans for Genes Day this year The Sun is giving you the chance to win a pair of your favourite celebrity’s jeans! From David Gandy, to Pixie Lott, you could soon be the proud owner of some very famous denim! To enter simply text the code for the celebrity’s jeans you’d like to win to 70099. Texts cost £1 plus standard network charges and all proceeds go to Genetic Disorders UK.

David-Gandy-Bond-Cover-Shoot-2015-003-800x1015David Gandy – J4G1

nick grimshawNick Grimshaw – J4G2

Olly Murs in Jeans for Genes white campaign t-shirtOlly Murs – J4G3

Fearne Cotton 2011Fearne Cotton – J4G4

pixie lottPixie Lott – J4G5

Oliver-Cheshire-TGJ.01Oliver Cheshire – J4G6

gok wanGok Wan – J4G7

danny-ciprianiDanny Cipriani – J4G8

tinie tempahTinie Tempah – J4G9

Sam Faiers in Jeans for Genes white campaign t-shirtSam Faiers – J4G10

kirsty-gallacher-1Kirsty Gallacher – J4G11

Russell Howard in Jeans for Genes white campaign t-shirtRussell Howard – J4G12

Kimberley Garner in Jeans for Genes white campaign t-shirtKimberley Garner – J4G13

Ricky Martin in double denim for Jeans for GenesRicky Martin – J4G14

Terms and conditions: Competition closes at midnight on Friday 25th September 2015. Over-18 residents of the UK only. One entry per person, per prize draw, for each pair of jeans. Not open to employees of News UK or their families. The winner of each pair of jeans will be selected at random within 14 days of the closing date from all entries received for that pair. Texts sent after the closing date will not be entered but you may still be charged. No cash alternative and the prize is non-transferable. Your information will only be used for the purposes of this competition. Text line is run by GFM Holdings Ltd for Genetic Disorders UK. Text entry helpline 0844 543 9713.

Bake off for Jeans for Genes Day!

Jeans for Genes Day is this Friday, and to get you in the mood celebrity chef and Jeans for Genes ambassador Mark Hix has created a delicious blueberry cheesecake recipe. Perfect to serve up at your Jeans for Genes Day Bake Off!

Mark Hix, chef, Jeans for Genes supporterMark Hix, chef in Jeans for Genes white campaign t-shirt

Blueberry cheesecake by Mark Hix for Jeans for Genes

Serves 4

I’ve used blueberries for this cheesecake, but you could also substitute raspberries, blackcurrants or strawberries.

450g blueberries
200g caster sugar
200ml water
20g cornflour

For the base

250g digestive biscuits or Hobnobs
80g butter, melted

For the filling

300ml double cream
100g caster sugar
500g cream cheese, such as Philadelphia
Finely grated zest of 1 lemon
1tsp vanilla extractBlueberry cheesecake pic (3)

Put 200g of the blueberries (use the softer ones) into a pan with the sugar and 175ml water. Slowly bring to the boil to dissolve the sugar, then simmer for 7-8 minutes. Mix the cornflour with the remaining 25ml water and add to the pan, stirring. Simmer, stirring, for 2-3 minutes. Remove from the heat and strain through a fine sieve into a bowl, pushing the berries in the sieve with the back of a spoon to extract as much juice as possible. Leave to cool.

Meanwhile, line a 17-18cm round springform cake tin with greaseproof paper. Crush the biscuits in a food processor until they are the texture of coarse breadcrumbs. (Or smash them in a plastic bag with a rolling pin.) Mix the biscuit crumbs with the melted butter and pack into the cake tin, firming it down with the back of a spoon.

Whip the cream and sugar together until fairly stiff. In another bowl, beat the cream cheese to soften, then fold in the whipped cream with the lemon zest and vanilla extract. Lightly fold through half of the blueberry syrup (not too thoroughly, though, as you want a rippled effect). Spoon the mix on to the biscuit base and place in the fridge for 2-3 hours until firm.

Mix the rest of the blueberries with the remaining blueberry syrup. To take the cheesecake out, run a hot knife around the edge, then release the side of the tin and slide the cheesecake on to a board. Cut into slices and serve each portion topped with a couple of spoonfuls of the blueberry sauce.

It’s not too late to get your Jeans for Genes Day fundraising kit, with loads more fabulous fundraising ideas inside. Sign up now at