I am Ann, my husband is Chris and we are mummy and daddy to our lovely daughter Sophie, aged five, who has a chromosome disorder, 4q deletion 31.3 – 32.3.
Sophie loves to interact with adults and likes watching nursery rhymes on YouTube. She enjoys playing with water and sand and singing ‘row, row, row your boat’ which she can happily rock and sing to for over an hour each day. She enjoys going to soft play centres and helping the staff sweep up with brooms and clean the tables – that’s much better than playing! She finds it difficult when she is not in her usual routine. She has an extremely short attention span, no sense of danger and still explores using her mouth.
She is under the care of speech therapy (which she does daily at school), a paediatrician, specialist teacher and occupational therapist. We follow a sensory diet to help with her sensory issues. The occupational therapist has explained to us that Sophie is always in a constant state of ‘fight or flight’. She has recently been diagnosed with autism and ADHD. Sophie is in year one in a mainstream school with full time support. We have been advised that she may need to transfer to a special needs school which is better equipped to deal with all her needs.
Sophie has developmental delay; she walked at 26 months and did not really crawl. She was amazing at finding her own way to get around by rolling everywhere. Since starting school she has learned how to write her name and she enjoys writing numbers and letters. She has a superb memory and constantly surprises us with her memory of adults’ names. She also has a very high pain threshold, swimming the day after she broke her collarbone. She has a very cheeky personality and good sense of humour and is currently enjoying copying adults’ mannerisms.
She gets frustrated easily and will bite, pinch, pull hair, head butt and shout, mainly directly at me and daddy but this has also been directed towards other family members and her 1:1 at school.
When this happens we offer her a chewy toy, deep squeezy hugs, her peanut ball or ‘pushes’ (joint compressions) which can help calm her down. Sometimes rocking and singing can help.
Sophie was diagnosed by a microarray test (her deletion is de novo) but has had no further tests in relation to genetic abnormalities.
Having a chromosome disorder has brought a lot of uncertainty into our lives. Sophie has had scans to rule out other conditions (heart and kidneys) but they have fortunately come back normal. We are learning to take each day at a time, celebrating major achievements for Sophie that other parents take for granted. We also cope with the behavioural difficulties and growing frustration that Sophie feels but is unable to express verbally.
I take Sophie to some special needs sessions at soft play centres and trampolining and get to talk to other parents and together we can embrace the good times and help each other through the bad times. Meeting other parents of children with additional needs has probably been the best part of the journey. I have also made some very good friends. We don’t need to explain anything to each other and don’t feel as if we or Sophie are judged as bad parents or naughty children.
There are only seven known people with the same deletion as Sophie in the world. Through Facebook I have been in contact with one mum in America, although her son is affected differently to Sophie.
The uncertainty can be hard to deal with at times, but I know of SWAN UK and other support groups who are able to offer advice, support and sometimes just someone to listen!
We first got in contact with SWAN UK at the Special Needs day at London Zoo. We talked to the London Parent Rep who was very helpful and gave us the information pack which we filled in and joined SWAN UK.
Days out are very hard for Sophie as any day when she is not at school is out of her routine. We have learned techniques to try to minimise her anxiety. I would love for us all to go out as a family on a day trip without it being too stressful for any of us.
I am looking forward to meeting more people through SWAN UK and sharing our experiences.
I will end by saying something that a friend of mine told me when we first found out about Sophie’s deletion and we were very upset: ‘It’s that missing piece of chromosome that makes Sophie so special…’ When times are tough I try to remind myself of this.
WOULD YOU LIKE TO SHARE YOUR STORY AND HELP RAISE AWARENESS OF UNDIAGNOSED GENETIC CONDITIONS?