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

Guest Blog: A Special Mother’s Day Message from mum and Jeans for Genes Supporter Sara Jackson

Sara JacksonI recently attended a Leadership Symposium run by the charities Genetic Disorders UK and Global Genes.  Alongside me were many men and women who spend their time fighting for the rights of those affected by rare genetic disorders; be they parents, scientists, doctors or advocates, all of them working to make the lives of children with rare diseases better.

I came away with a head full of inspiration and information, but what is left now as I write this blog, is a heart full of the pain and hope of the mothers I met.

Many of these amazing women have chosen to face outwards to the world, in order to find ways to change and improve on what they had to fight to achieve.

I felt so proud to be part of this group, trying as I do to raise awareness and stand up tall.  Alongside my TV day job and mothering of my boys, one of whom has two rare disorders, I have chosen to help run the charity Chromosome 18 Europe and write children’s books, one of which is now a musical ebook called The Treehouse at Number 9, created to raise awareness for GDUK and all the rare gems out there.

Treehouse Genies Gang

The Treehouse Genies featured in The Treehouse at Number 9

So instead of being asked how I find the time, as is often the case, this weekend I was in the happy position of wondering and asking other women how they managed.  Managed to change the law, run a foundation, form a charity, build a network, create a science programme, put on a conference and strengthen a global movement.

I basked in the glory of this room full of champions, and realised that while there were 100 different conditions represented, what we have in common as parents, and mothers is bigger than all of that.  I believe strongly that it is our commonalities that will help us to go from a group of individuals, to a movement of many.

As parents of special kids we exist to navigate the world for our children and fight to keep them healthy. We don our armour to smooth the path and battle with the systems in order to give them the best future we can.  We often choose to do this by forming charities and finding others, pushing to make things easier for those that follow, often knowing that the benefit won’t be felt by us at all.

These are the things that we do, outside of the day to day, shape our lives as special parents, with no palpable reward.  However just knowing we might have helped even one person to have it a little bit easier is kind of priceless.

Sara Jackson's boys in Toronto

So Happy Mother’s Day to all the mums out there, special or otherwise, and all the dads and grandparents, siblings and friends who help us to do what we do.

Sara Jackson

Find out more on Chromosome 18 Europe here: www.chromosome18eur.org and check out Sara’s blog here: http://sarajinbetween.blogspot.co.uk/

Why not sign up for Jeans for Genes Day 2015 on Friday 18th September and help to transform the lives of children with genetic disorders.