Jude’s story

Hi , my name is Jude, I am 19 years old and am currently attending college, on a life skills course.

I was born at 37 weeks by caesarean section. It was soon after I was born  when my mom noticed unusual facial features and thought something might be wrong. I had a delayed closure of the anterior fontanelle with a triangular shaped face. I didn’t have the ability to suck and wasn’t able to feed, therefore I was fed through a syringe. This was very challenging but eventually I learnt how to suck, and therefore feed, at about seven weeks old. I also had undescended testicles and ‘clicky’ hips.

Receiving a diagnosis

As time progressed my overall development was delayed. I wasn’t meeting any milestones, and was eventually diagnosed with a global developmental delay (GDD). From here I had many challenging and difficult years. I struggled with anxiety, had regular outbursts, and at age nine I was then also diagnosed with autism spectrum disorder, a low frequency hearing loss, behavioural difficulties and dental problems. During my primary school years I had a statement of education special needs and attended a mainstream school with full time one to one support. During this time it was suggested we enrolled on a Deciphering Developmental Disorders (DDD) study. This is a national genetics study where bloods were taken from myself, my mom and my dad.

Mom says I bring the sunshine into people’s lives although I am very vulnerable and need support and supervision at all times.

Finally at the age of 10 I was diagnosed with KBG syndrome which is very rare. I was told that I was one of the first to be diagnosed in the UK. KBG first came about in 1975, it is said to have originated in Turkey. Mom and dad were really relieved to finally have a diagnosis for me after so many years, but it was also a big shock to us all. We have seen so many specialists over the years but unfortunately not many had heard of KBG syndrome or can support us in any way.

Living life to the fullest

I struggle with fatigue and find it hard to stay awake because of the condition, and I can’t do anything too strenuous. I like structure and routine and I love to live life to the fullest.

Mom decided it was better for me to go to a special school for my secondary education. It was the best decision for me because this is where I flourished, within weeks I felt content and happy, all my insecurities were supported and I thoroughly enjoyed many, many, happy years in school. I had a lot of help, and the school activities we did suited me well. I enjoy singing, dancing, and socialising with family and friends. In my spare time I like to fundraise and raise awareness of my syndrome. I help at lots of charity events.

Over the years I have made some wonderful friends. I’m a very happy, fun loving person and in the future I’d love to work in fundraising or something similar. I’d also like to continue working on my independence and perhaps live in a supportive living environment.