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.

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!

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.