Life as an adult with WRS/NPS - living in the UK

I was born by planned Caesarean at 38 weeks because I was in breach and had stopped growing.
Before I was born they were a bit concerned that I wasn’t growing much in the third trimester.
Due to my appearance at birth, this led me to being referred to Great Ormond Street Hospital (GOSH). I was diagnosed at about 5 months old. I was very small, had very little fat, had some teeth and a distinctive shaped head with a very big “soft spot” (fontanelle).

I don’t remember it much but I’ve met another person with WRS/NPS. I was only about 1 and they were maybe 6 or 7. It was obvious that we were very different despite having the same diagnosis! This was before everyone used Facebook to keep in touch so we lost contact with each other.
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When I was 10 years old I went back to GOSH basically because I was doing so much better than anticipated that they wanted to check they had given me the right diagnosis.

Never once have I let this stop me from being adventurous! Some of the things I’ve done/still do include; swimming, horse riding, rock climbing, camping, going out with friends, and been on holidays aboard! All these activities have helped to boost my confidence and independence whist having fun.

I’ve had a few week long stays in hospital over the past years, mainly because of a chest infection. It’s weird because externally I felt fine and just got on with life but internally I wasn’t fine. The nurses/HCAs have always been understanding of my needs (in my experience) and they never took over when I’ve said I can do something independently. Whenever I do stay in hospital, I get “we’ve got some medical students in today, would it be okay if I bring them to say hi?” I always say “yes” as I might be the only person with WRS/NPS they meet!

As a teenager, I’ve suffered from anxiety as there’s little information on the internet about adulthood and I didn’t know what to expect. Although I wasn’t very open about it at first, I discovered that counselling helped me to understand and “come out of my shell”, and also having a circle of close friends who would listen without judging. 

Despite this, I’ve managed to sit all my GCSEs and  complete some further education courses whilst gaining some valuable experiences on placements. 

Volunteering with youth organisations led me to setting up a group in my local area for young people with disabilities. And this has made me become more passionate and understand the importance of young people having a voice!

As an adult, my condition has changed. I’m now a full time wheelchair user due to balance, sometimes people find it hard to understand my speech as I talk quietly and stutter. I also get tremors in both arms/hands due to another neurological condition called Cerebellar Ataxia (recently diagnosed).

​One researcher from America even said to me “Since you are one of the oldest patients, you are teaching us about the challenges with WRS.”

​Now I’m 26. I wanted to share my story. I live on my own in an adapted flat with care calls, I have a part-time job as an Admin Assistant and take each day as it comes!

THERE IS NOTHING “WRONG “ WITH YOU - YOU ARE PERFECT JUST THE WAY YOU ARE!!!!!

-Adult living with NPS