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.

Sheffield Star

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.

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.

How your support helps: meet Tayen

Tayen was born an apparently healthy and happy baby. But by her first birthday her parents noticed her development had stalled and then reversed. Tayen was quickly losing the skills she had learnt in her first years; her eyesight also deteriorated rapidly and had 22 months old she suffered a massive seizure. Tayen was taken to hospital and after doctors couldn’t find signs of an infection they decided to do an MRI scan. The scan showed that Tayen had tumours forming along the optic nerve, and can be a sign of neurofibromatosis type 1 (NF1). Genetic testing later confirmed this diagnosis.

Tayen and family

NF1 occurs in around 1 in 3000 people and causes tumours to form around the body. Common indicators of the condition include café au lait spots around the body, lumps in the skin and sometimes non-cancerous tumours. There is no cure, and treatment is to halt the growth of tumours and improve symptoms.

Tayen and family

Tayen has been through 18 months of chemotherapy to halt the growth of the tumours on her optic nerves, although she has been left blind. Tayen’s mum, Kali says; ‘Developmentally the chemo has set Tayen free. In halting the growth of the tumours she started developing again and has a new lease of life. She has surpassed all expectations. She now walks, goes to a special needs nursery, and she likes swimming, riding her bike and ice skating.’

Tayen and family

This year the charity Children and Young People with Neurofibromatosis will receive a Jeans for Genes grant to fund a PGL camp for young people with the genetic condition.

So don’t forget to pay in your Jeans for Genes Day donation, so we can put your money to work helping children like Tayen with genetic disorders in the UK.

Christmas Jeans for Genes Style!

Christmas is just two weeks away, but it’s not too late to get some fabulous gifts for your family and friends!

From t-shirts to key rings, and bags to badges, we’ve got something for everyone, plus you’ll feel great knowing that every purchase will be helping children with genetic disorders.

Check out our Christmas Shop to see the full range of Jeans for Genes gifts and stocking fillers.

backing card

Thank you all for your support this year, and we look forward to seeing you for Jeans for Genes Day 2016.

Have an extraordinary Christmas!

The Jeans for Genes Team