Dee, who has a rare chromosome disorder

Living with a chromosome disorder as an adult

22nd June 2018

This week has been Chromosome Disorder Awareness Week and My Family, Our Needs has featured videos from mums telling us how chromosome disorders affect their children and family. Today, we hear from Dee who is 24 years old and has a rare chromosome deletion on 20q13.1q13.3. She tells us what living with a chromosome disorder as an adult is really like.

Window looking into my world

Hi I’m Dee. Because of my chromosome disorder, I have moderate learning difficulties and attention deficit disorder, dyslexia and dyspraxia and developmental delays. I have muscle and bone weakness and I stand at 4ft 2ins. I have pseudo para hypothyroidism which means I have to take tablets every morning and I have asthma. I also have anxiety and emotional issues too.

How my chromosome disorder impacts my life

I get very tired day to day. There can be days where I’m asleep before 8pm, I find it hard to stay up late. A lot of things are very overwhelming at times. I’m genuinely a very happy person but I do have some very dark times when I’m actually very down and sad. I can’t cross a road by myself unless it’s a known route. I am unable to travel on my own so my family have to drive me everywhere or I have a taxi booked to take me to places. I have support workers and carers as well to take me out to places and to help me with things too. I can’t be left on my own for very long because I get anxious but I am getting better at being left on my own. I can now manage 2 or 3 hours in the house on my own.

I have to be supervised when using the cooker or the kettle and other kitchen things because I can be clumsy sometimes. I can’t walk long distances because I get very sore feet and get tired too. I have always struggled with keeping friendships because people out grow me and I get upset when I don’t know what’s going on and when people don’t explain things clearly. I also get scared of a lot of things like hospital appointments and the dentist and being around big groups of people. Even though my conditions impact my life in all these different ways, it doesn’t stop me from doing the things I want to do. I just have to do them differently.

Overcoming hurdles

I’ve only recently over the last few years stopped having a general anaesthetic when I have blood tests. I have overcome a lot of things through my life, but with me it’s like 5 steps forward and 4 steps back again when I gain or lose confidence. I have a job as a meal time assistant at a special needs school 2 days a week and I work for a couple of hours in a local café. This is all paid work which helps me to be independent. I play badminton 3 times a week at the most. Badminton and my family and friends mean a lot to me. I have won medals at the Para Badminton 4 nations competitions and regional competitions too with the Special Olympics. In August 2017 I represented the South West Special Olympics team at the National Special Olympics summer games in Sheffield too. I train at a mainstream club twice a week in my local town called Queens badminton club. I also train at a disability club called Devon racquteers. I have also been a #THISGIRLCAN Ambassador for Mid Devon as an Inclusion Ambassador. I have just recently been to do my Level 1 badminton coaching qualification as well.

I live with my mum and younger sisters and stay with my dad some weekends and sometimes in the holidays too. My mum does everything she can to help me with everything that do and supports me in so many ways.
I appreciate everything I have, as well as what my family and friends do for me.

Many thanks to Dee for sharing her story with us. Don’t forget to follow the hash tag #RareChromosomeAwarenessWeek on Twitter for more information. You can also catch up on our latest posts and watch this week’s vlogs here.



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