THE BLOG

Williams Syndrome: A Day in the Life

13/05/2015 15:50 BST | Updated 13/05/2016 10:59 BST

After I was born I had a six-week check up and the doctors found that I had a rare condition called Pulmonary Stenosis. This meant I had to be referred to Harefield Heart Hospital, but it wasn't until I was two years old and after lots of tests that I was diagnosed with Williams Syndrome, which means I also have a learning disability.

This was a massive shock to my parents and my family as they were worried about whether I would be able to get the extra support I may need in life. I know they were quite scared, and unfortunately the attitudes of some doctors made it worse.

The diagnosis turned our lives upside down. Some doctors were brilliant and gave me and my family the right help but others seemed to not care and refused to put any positive light on my birth.

Some were saying "she will never walk" or that I wouldn't be able to talk. They were giving my family a bleak outlook for my future saying I may not live past my 9th birthday. I proved them wrong and when I did they deemed it a miracle.

Having Williams Syndrome does affect me on a daily basis in many ways. My hypersensitivity to certain pitches or volumes of sounds, also known as Hyperacusis, means that I am on edge most of the time because I don't like loud sounds like cheering, whistling and clapping.

I really struggle with this as it means I am not always able to go out and do things that I want to do because of my fear of loud sounds, and if I hear the sounds I find it very hard to stay calm. It feels like being in a theatre with constant surround sound and a bomb going off.

Pulmonary Stenosis is part of Williams Syndrome. Heart problems can vary but mine is Pulmonary Stenosis. Thanks to Fergus Mcloghry and Dr Judith Wilson, two excellent doctors who helped me, I got all the right healthcare and support I needed. I had speech and language therapy, occupational therapy, physiotherapy and many other types of therapies.

I also had Portage, which meant I had home visits from people who work with children with special educational needs. This meant I could continue to improve my skills, which was great because I then succeeded in mainstream education.

Even though at the start of my life things were very stressful and very uncertain, the future now is incredible. Who would have thought I would have succeeded in everything that I set my heart on doing - from passing my GCSE's, going to college and getting a diploma in Media Production and gaining work experience at the learning disability charity Mencap. Being able to work in the busy campaigns team at Mencap has given me such pride and confidence for the future.

I definitely think more awareness needs to be made about Williams Syndrome and learning disability. I think more people with a learning disability need to be visible in the media so that their voices can be heard and we can break down the negative views some people have.

I would tell people who are either in my situation or a similar situation to be calm, having a disability does not have to be a bad thing, and there are great organisations like Mencap and The Williams Syndrome Foundation who can help you. There is always a light at the end of the tunnel no matter how dark it is, and you will be able to achieve all of your dreams and goals one way or another!

My plans for the future are to continue to help people with a learning disability for the rest of my life no matter what it takes and how long it takes!

I would love to get a job that involves helping people with a disability as this is truly my passion! If it was possible I would love to get married and have four kids as this is something that I have been thinking about for a very long time and it would really make me happy to be someone's wife and a mother to their children!

Socially, I continue to see my friends and family and have as much fun as I can because you only live once. You should not let fear get in the way of enjoying life with the people who you truly love!

I think having a learning disability is a tag and does not truly reflect who you are as a person. I am Katie first and have a disability second. There are many others like me who are all unique but there's still only one Katie. Everyone should remember that and view the person first, and disability second.

An estimated 3,500 people in the UK have Williams Syndrome. This week a nationwide campaign is launched to spread awareness of Williams Syndrome, encouraging people to join them in saying 'Hello' to people they meet on Friday 15th May. The unusual and randomly occurring condition is caused by a chromosome defect thought to affect around one in 18,000 people and therefore many professionals do not know of the syndrome, or how to recognise it. For more information visit: www.SayHello.org.uk.