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

Blog Takeover: Genetic Counselling

In her second blog post, our Genetic Counsellor, Emily Clarke, discusses genetic counselling and the support we provide through our Genetic Disorders Helpline – funded through your incredible support on Jeans for Genes Day.

“When providing information and support through the Genetic Disorders UK Helpline service, I come into contact with many families who could benefit from genetic counselling. It is not unusual for enquirers to be unsure about what genetic counselling is or how they could get to see a genetic counsellor, so I thought it would be useful to tell you all a bit about the role.

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Genetic counselling involves a healthcare professional talking to you about a genetic condition or possible genetic condition affecting you, your child or another member of your family. They can assess the situation in your family by taking your medical and family history. They will usually draw your family tree to help with the assessment. They can explain what is known about the genetics of the condition and how it can be passed on in a family. Any options for genetic testing are also discussed and a test arranged if appropriate.

Importantly, genetic counselling also involves support with the emotional and family implications of a genetic disorder. This could be support with coping and adjustment to a diagnosis, or help with how to tell other members of the family about the possibility of the condition being passed on.

A range of healthcare professionals deliver genetic counselling, but it is most often provided by Clinical Geneticists (specialist genetic doctors) and Genetic Counsellors. Genetic Counsellors are healthcare professionals with graduate degrees and experience in the areas of medical genetics and counselling skills. There are about 300 genetic counsellors working across the UK, with the vast majority based in the 24 NHS regional genetic centres. You can find a list of specialist genetic centres on the Genetic Disorders UK website. There will be a genetic centre and genetic counsellor that covers your area.

To access genetic clinics and genetic counselling, you need to be referred to a genetic centre by your GP or hospital specialist. You can find out more about genetic counselling and genetic counsellors on the Association of Genetic Nurses and Counsellors website and the Genetic Counsellor Registration Board website.

You can also call the Genetic Disorders UK Helpline on: 0800 987 8987 or use our website contact page.”

Our Genetic Counsellor is funded through your amazing support on Jeans for Genes Day every year. Don’t forget to sign up for your free Jeans for Genes Day fundraising kit, and help us change the lives of children with genetic disorders on Friday 23 September 2016.

Blog Takeover: Our Genetic Disorders Helpline

Thanks to your support on Jeans for Genes Day, we’ve been able to fund a genetic disorders helpline with a dedicated Genetic Counsellor, Emily Clarke. In this series of blog posts, Emily will talk about some of the ways the helpline is making a difference to the lives of children and families affected by genetic disorders in the UK.

Sheffield Star

“As a member of the dedicated team at the national charity Genetic Disorders UK, my primary focus is our expanding helpline service. We receive many enquiries every week, by email and phone, from people across the UK with questions or concerns about a genetic condition affecting them, their child or another family member.

In a recent enquiry, Becky phoned the service as her daughter, age 7, had just been diagnosed with a very rare genetic condition. Becky was understandably feeling overwhelmed and confused. No-one else in the family had ever developed the condition and Becky and her husband John, could not understand how their daughter had inherited the disorder. We were able to talk through how the condition is passed on in families, discuss their concerns, including whether their younger daughter might also develop the condition, and direct them to their local specialist NHS genetic service for further genetic counselling.

Our helpline aims to provide clear and accurate information about medical genetics, genetic testing and genetic services. We also offer crucial support and understanding of the many varied emotional and social impacts a genetic diagnosis can have for a family. It is not unusual for parents to experience feelings of guilt, there can be conflict among family members or distress about what could happen in the future. Our experience working with families, the personal experiences of team members and our training and expertise, has given us an in-depth appreciation of the challenges, as well as the rewards, of life with a rare genetic condition. I find I am constantly amazed and impressed by the determination, courage and strength of the parents and individuals I have contact with through our helpline and I learn from every person who gets in touch.

We always take a non-judgemental approach when responding to enquiries, providing balanced information and supporting people to decide on the best course of action for themselves.

When Raj contacted the helpline, he was worried about whether his future children may inherit his condition and what options may be available when he decides to start a family. After talking everything through, Raj was able to clarify that, for him, knowing the likelihood of his children inheriting his condition would not alter his plans for having a family. Instead it would just help him and his partner to prepare better for the potential needs of their children.

In providing this service I have become aware of how many people have worries about a genetic condition and are struggling to find understandable information or support from someone who knows what they’re going through.

We receive enquiries about all aspects of genetics from how do I get genetic testing to how can I set-up a support group and what research studies might be suitable for my child? We also help people to consider whether a referral to NHS genetic services would be of benefit, assist them to prepare for their genetic appointment and provide support following a consultation.

If you have any queries or support needs about a genetic condition please contact us at the Genetic Disorders UK helpline. To contact the helpline please call 0800 987 8987 or use our website contact page.”

Sign up for Jeans for Genes Day on Friday 23 September and raise funds for our vital helpline.

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.

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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.

Kicking off National Science and Engineering Week with a BIG BANG!

To kick start National Science & Engineering Week 2014 last month, we took our inspiring school resources to the Big Bang Science Fair 2014 at the NEC in Birmingham.

With over 75,000 children, parents and teachers at the fair we were able to reach out with our fun hand-on genetics activities whilst spreading the word about Jeans for Genes Day.

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ImageVisitors to our stand could take part in a hands-on mix and match features game, make their own genes chatterbox to take home and even contribute to our giant marshmallow DNA helix!

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Thanks to our lovely friends at Corel, their donation of state-of-the-art video editing software for our free prize draw helped us to entice an incredible 230 schools to sign up to take part in Jeans for Genes Day 2014!

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Of course, we couldn’t have done all this without our spectacular team of volunteers!

Our wonderful ambassador Jono Lancaster donated two full days of his time to support us on our stand teaching children and adults about genetic disorders and the condition affecting him; Treacher Collins syndrome.

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Huge thanks too to our team of 12 volunteers from the West Midlands Genetics Laboratory who dedicated their time over the entire four days to help us raise awareness of genetic disorders and Jeans for Genes Day on our stand.

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Thank you to all our volunteers, staff and visitors for making Big Bang Science Fair 2014 so brilliant!

Use our inspiring educational resources.

Sign up for Jeans for Genes Day 2014 on Friday 19 September.

Guest blogger alert!

We are incredibly lucky to have the amazing Louise Wedderburn featuring as a guest blogger in the lead up to Jeans for Genes Day!

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Louise is an ambassador for Jeans for Genes Day and is affected by the genetic disorder Fibrodysplasia Ossificans Progressiva (FOP).

Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that causes the soft connective tissue of the body, such as the muscles, to gradually turn to bone. There are only 45 confirmed cases of FOP in the UK.

Children affected by FOP gradually lose their range of movement as their muscles, tendons and ligaments calcify. The life expectancy of children affected by FOP is reduced as bone eventually grows around the lungs, affecting breathing.

Louise has given us incredible support, here she is attending our T-shirt launch party in Edinburgh with our other fabulous patrons Jono Lancaster and Tallia Storm.

Tallia's Tee Party in aid of Jeans for Genes

Louise with fellow ambassador Jono Lancaster and Tallia Storm

One of Louise’s many talents is her ability to bake like a pro and she will be sharing her delicious recipes with you lovely lot in the lead up to Jeans for Genes Day.

Here is a recipe to get your Jeans for Genes Day baking off to a flying start!

Jeans Sugar Cookies

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INGREDIENTS

8 fl oz all-purpose flour, plus more for rolling

1/2 teaspoon baking powder

1/4 teaspoon salt

8 fl oz unsalted butter, room temperature

8 fl oz granulated sugar

1 large egg

1 teaspoon vanilla extract

Blue icing sugar for decorating

 

DIRECTIONS

  1. STEP 1

    In large bowl, whisk flour, baking powder, and salt. With an electric mixer, cream butter and sugar until light and fluffy. Beat in egg and vanilla. With mixer on low, gradually add flour mixture; beat until combined. Divide dough in half; flatten into disks. Wrap each in plastic; freeze until firm, at least 20 minutes, or place in a resealable plastic bag, and freeze up to 3 months (thaw in refrigerator overnight).

  2. STEP 2

    Preheat oven to 325 degrees. Line baking sheets with parchment. Remove one dough disk; let stand 5 to 10 minutes. Roll out 1/8 inch thick between two sheets of floured parchment, dusting dough with flour as needed. Cut shapes with a jeans cookie cutter or cut out freehand using a sharp knife. Using a spatula, transfer to prepared baking sheets. (If dough gets soft, chill 10 minutes.) Reroll scraps; cut shapes. Repeat with remaining dough.

  3. STEP 3

    Bake, rotating halfway through, until edges are golden, 10 to 18 minutes (depending on size). Cool completely on wire racks. To ice cookies, spread with the back of a spoon. Let the icing harden, about 20 minutes. Decorate into lovely blue jeans and sell at your school or workplace!

For more fabulous fundraising ideas visit our fundraising web page.

Jeans for Genes Day on the road!

This year, we were lucky enough to be welcomed in by some of our incredible supporting primary and secondary schools across the country who let us take over their assemblies! They were all showing their support for the newest additions to our range of free educational films and resources, which can be found here.

We were joined by our dedicated patrons Adam Pearson and Jono Lancaster and together, we packed in eight schools and 10 assemblies in just five days! Huge thanks to the wonderful schools across the UK who hosted us  – Burlington Danes Academy (London), Fairfield High School (Bristol), Gunter Primary School (Birmingham), Liverpool Community College, Cedar Mount Secondary School (Manchester), Gledhow Primary School (Leeds), Wakefield City Academy and Canberra Primary School (Glasgow).

BBC News presenter Ellie Crisell even popped along to Burlington Danes Academy in London to show her support of our resources!

Adam with the pupils of Fairfield High School in Bristol

Thanks to all at Gunter Primary School in Birmingham for welcoming us in!

The students at Liverpool Community College

Our patron Jono Lancaster enthralled the pupils at Cedar Mount Secondary School in Manchester

The pupils at Wakefield City Academy

We finished our tour of the UK with a POP, with singing sensation and loyal Jeans for Genes Day supporter Tallia Storm! Tallia treated the pupils at Canberra Primary School in East Kilbride to some of her hits and went down a storm herself!

Don’t forget – you can use our compelling films and educational resources at any time of year, not just on Jeans for Genes Day! Click here to see our powerful collection.