After putting chromosome disorders in the spotlight this week, My Family, Our Needs brings you a personal story from mum Helen Burness. Helen blogs over at Measuring the Marigold, sharing stories about her daughter Marigold who was diagnosed at 3.5 months with a rare chromosome disorder.
Helen is a busy mum to Marigold, as well as her older son Harrison and dedicates some of her time raising awareness of rare chromosome disorders. She blogs regularly for Unique charity and aims to put what she calls her ‘privileged insight into the world of rare chromosome disorders’ to good use. My Family, Our Needs’ Editor, Emma managed to catch up with Helen over the phone with a cup of tea in hand to learn more about her family’s journey and how Marigold is just your typical little girl who happens to have a rare genetic diagnosis.
Here is Helen’s story…
Starting with the science
What Marigold has is, so far as we know, completely unique. There are no other cases we know of with her exact mosaic duplication – 3q11 trisomy mosaicism. What this means is that, in some cells in her body, she has some extra genetic material which confuses her brain; a bit like having an extra piece of a jigsaw puzzle and trying to work out where it goes.
So, what does that all mean for Marigold and for us as a family? Well, the truth is that we don’t know. Because what she has is so unique, it’s difficult to predict the future. Her future. Instead, we focus on what we do know.
We know that Marigold is a happy, sweet natured little girl who loves all the usual things little girls enjoy: handbags, her toy kitchen and pushing her dolls around in their pushchairs. She loves going to pre-school and socialising with her friends who are protective of her and look out for her when she’s there. It’s very sweet to see.
Marigold also loves her nanny Jackie, who is a highly trained 1:1 specialist and cares for her three days a week. Jackie is such a big part of our lives and the support she gives us and Marigold as a family is so valuable, sometimes I don’t know what we would do without her.
Hopes for the future
At the moment, Marigold attends a mainstream pre-school for three sessions a week and it is everyone’s hope that she will progress into a mainstream lower school. But this, in itself, can present some problems. Marigold has developmental delays and complex needs which, at the moment, are being met by the staff at her pre-school with the help of her outreach worker – who happens to be another amazing Jackie!
Together, they have set out a SEND support plan which will hopefully feed into a successful Education, Health and Care Plan if Marigold moves on to mainstream lower school. I find it frustrating that our at-home nanny, who probably knows Marigold better than anyone after my husband and I, has no say in that part of Marigold’s life, and it is a wasted opportunity for schools to not be asking the opinion of those who look after children with additional needs. All these things work so much better when you can do them in partnership.
Support for families living with chromosome disorders
When your child has additional needs, the gap between practical support and emotional support can feel huge. Which, I suppose, is why so many parents turn to Google. To read other people’s stories. To connect with those who may not be in the exact same position as them but they know what it feels like to be in a lonely place because of an unknown diagnosis. Finding your community, whatever that looks like, is important for some people, and I found mine through Unique. I blog for them regularly and I think it’s important to raise awareness – whilst I still have the energy!
What can be hard sometimes is having the rug pulled from under you in a flash. When you have a child with an undiagnosed condition or additional need, the emergency hospital visits or sudden deteriorations can be tough. Really tough. But you just have to carry on.
Having Marigold doesn’t make life difficult for me; but finding that the world is not set up for children like her is. On a daily basis. All I want is for her to be happy, included and achieve her potential. Isn’t that what every parent wants for their child? I have learnt so much from her and she has enriched our lives in a way that I could never have imagined.
What would I say to other parents in a similar position to me? Reach out to other parents and be part of something, you may find it helps. Oh, and cut yourselves some slack…
A charity whose mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder.
Rare Disease UK
RDUK provides a united voice for the rare disease community by capturing the experiences of patients and families. They work with supporters to raise the profile of rare diseases across the UK.
Makaton signing resource, learning to communicate together through inclusive child-centred activities.
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