To all the ‘rare’ Mums out there on Mother’s Day

You never imagined that motherhood was going to be this way.  You never knew that being a mother was somehow not going to feel like it was enough. No one told you how the diagnosis of your child was going to change you.  And you certainly never knew what your new normal was going to look like and how much joy and love and strength you would find in spite of – or perhaps because of – the fear and grief that accompanies a diagnosis of a rare and serious condition.

Welcome to the world of mothering a child with a rare disease.  Welcome to your new normal.

The medical bit…

My son, Nick has a rare genetic condition called Barth syndrome.  He is one of only 25 boys in the UK with this condition and there are less than 200 worldwide.  Boys and men with Barth syndrome have heart problems (often requiring a heart transplant) and/or a risk of sudden cardiac arrest.  Their immune systems don’t always function properly so they need injections to stimulate their bone marrow to make neutrophils to provide protection against life-threatening infections.  They can struggle with debilitating fatigue and muscle weakness.  Like many other rare diseases, we don’t yet have a treatment, or a cure.

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Michaela and her son Nick, photo courtesy of Amanda Clark.

If you’re a rare mum, then you know that there’s so much more to your child than his or her list of medical symptoms – their humour, their smile, their unique personality.  While you would give anything to take the disease away, equally you would do anything to protect that other bit that defines who they are.  There is so much more to Nick than this list of symptoms – there’s his quick and wicked sense of humour which always makes my day a bit brighter.  His stubbornness, his strength of will, his messiness and normal teenage forgetfulness can drive me crazy sometimes but they’re also part of what makes him Nick.

But, in some ways, the fact that he has a rare condition does define him, regardless of what we might want to say to the contrary.  How could it not?  It influences his every major decision; it even influences the minor ones sometimes, like whether he should use the energy he has to study, or to spend some much needed time with his friends.

I’ve felt privileged to meet quite a few ‘rare mums’ on this unplanned journey.  And today, on Mother’s Day, I want to thank you.  I know what you deal with on a daily basis, the constant fight to know enough, to be enough.  On top of all of that, so many of you have made the extra time to create or volunteer for patient support groups.  You choose to look outwards and fight to make life a bit better; sometimes knowing full well that all your hard work and sacrifice might not be enough to help your own child.

To all the mums just starting out on this journey, please reach out and ask for help from this incredible community of like-minded people.  Join your child’s represented patient support group and don’t be afraid to accept what they have to offer in the beginning when you’re struggling to get to terms with the diagnosis and you know nothing about this horrible rare disease that has suddenly struck.  Learn what you need to learn to manage the condition.  We all need to start by doing what we have to do for our child and family.

Once you start to feel a little more comfortable with managing your child’s condition, then it might be the ideal time to offer some of your time to help the mums who are following in your footsteps.  You’ll be amazed at the positive difference it will make to you and to your child and it will certainly help your rare disease community.

Then comes the time when you and your rare disease group will need to look around to see what other groups are doing.  That’s when signing up to larger umbrella groups like Genetic Disorders UK will accelerate your progress.  There is definitely strength in numbers and there are some incredible mums (and dads of course) who are forging new paths ahead and helping to lay down the groundwork for the rest of us.  Sign up to participate in registries, research and clinical trials. Sign up to fundraise or volunteer your time or services.

When you’re dealing with a rare genetic condition, you will always have a vital role to play in finding a treatment and a cure.  There are so few of us in any given rare disease and our patient support groups need us as much as we need them if we are to find a cure one day.  There are 6000 different rare genetic disorders out there and each one is different yet our commonalities greatly exceed our differences.  Together we are mighty.

Happy Mother’s Day to all the mums who are fighting to keep their ‘rare’ children alive, well and happy.  Happy Mother’s Day to all the mums who are grieving the loss of their precious rare child or children.  To all you Mighty Mums out there, ‘rare’ or not– for today at least I hope you put your feet up and enjoy your well-earned day of rest. And thank you to all your loving and supportive husbands, parents, children, family and friends who help you be who you are.

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Michaela and her other son Matthew.

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

Save the date!

The original and best dress-down day is back! This year Jeans for Genes Day is on Friday 23 September and we need you to don your denim to change the lives of children with genetic disorders.

2015 saw thousands of you doing something extraordinary in jeans to make a very real difference. But in 2016 we want you to go all out in denim and join in our 21st birthday celebrations!

Sign up today via our website to receive your free fundraising kit packed with everything you need to make your Jeans for Genes Day the biggest and best yet.

There are so many children affected by genetic disorders who need your continued support; we can’t do it without you. So join us for the 21st Jeans for Genes Day on Friday 23 September!

Wear jeans, change lives.

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!)

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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.

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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.

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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.

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.

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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.

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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 jeansforgenesday.org

Top school supporters honoured with Gene Hero Award

This year we are celebrating 20 years of Jeans for Genes Day, and to mark the occasion we are honouring some of our longest-standing and top donors of the past 20 years!

Six schools in the UK have been awarded Denim Donor status to honour their remarkable fundraising efforts:

Calday Grange (3)

Calday Grange Grammar School in Wirral who have donated over £25,500

GSAL

The Grammar School at Leeds who have donated over £16,800

Essendene Lodge

Essendene Lodge School who have taken part for an incredible 19 years

Cairnshill

Cairnshill Primary School in Belfast who have donated over £8,000

Imberhorne

Imberhorne School in East Grinstead who have donated over £19,900

Ravensbourne

Ravensbourne & Havering School who have taken part for the past 19 years

Each school will be offered a guest assembly speaker to give a special praise of thanks to the children and staff, and explain just how fundamental their involvement has been to us. A special Gene Hero certificate has also been awarded to each school to celebrate their incredible support and continual dedication to Jeans for Genes Day over the last 20 years. The support of schools like these has been invaluable to our fundraising efforts, helping us to raise over £40 million since the first Jeans for Genes Day.

Gene Hero Certificate

We are so grateful to each and every one of you who has supported Jeans for Genes Day over the last 20 years, but we still need your help to transform the lives of children with genetic disorders in the UK. So sign up today and do something extraordinary in jeans on Friday 18th September to celebrate 20 years of Jeans for Genes Day!

Get your free fundraising kit now at jeansforgenesday.org/signup!