Kate E. Reynolds

  • 18 in 18: A Chromosome and a Year

    Doubletree

    Doubletree Hilton Hotel is in the centre of Glasgow. It's taken me over eight hours to get here, driving bumper-to-bumper for much of the journey and wondering whether I'd have been better off running the gauntlet of north western train services instead. The other alternative was flying from Bristol, that being the shortest travel time. Disadvantage? The available flights couldn't accommodate my son's respite care at a farm several miles south of our home.

    I am greeted with a room card and, curiously, a warmed cookie. I decide to familiarise myself with the conference room in preparation for speaking the next day. Many rows of chairs behind long tables face a large screen and a small stage. The room is airy. For airy, read 'your voice becomes thin and disappears.' The staff member who has helped me tells me to take my time to practise. I have a feeling he thinks I'm going to rehearse the entire presentation. Instead I plug in my computer and listen to my voice, a feature which I describe as being nasal and dull. I'm not convinced I can make it sound more interesting. I'll check for glazed expressions when I speak.

    I've been asked here to give a presentation about relationship and sexuality education. There's nothing unusual in that. However, before this conference I had no knowledge of the rare range of conditions surrounding Chromosome 18 differences.

    A little bit about Chromosome 18

    Typically, humans have 46 chromosomes in each human cell, divided into 23 pairs. Each pair is made up of 2 copies of each chromosome, 1 copy from each parent. Chromosome 18 contains anything from 200 to 300 genes which tell the body how to make proteins which perform different and vital roles in the human body.

    In similarity to autism, Chromosome 18 causes a spectrum of conditions depending the extent of changes in the structure or number of copies of chromosome 18. As is also emphasised in ASD, each person affected is an individual with no two people presenting with exactly the same symptoms as another.

    Some of the parents who attended the conference spoke of being part of the 'Trisomy' or 'ring' groups into which they were divided for some group work. This refers to the specific nature of the alteration to the chromosome 18.

    The conference included Syndrome Coordinators who worked with these different groups, namely:

    Tetrasomy 18p

    18q -

    Trisomy 18

    Ring 18

    18p -

    The Glasgow conference was conducted as part of the Chromosome 18 Europe arm of the global organisation. In addition there is a Chromosome 18 Australasia and the largest component, the Chromosome 18 Registry and Research Society based in Texas in the United States (US). Their mission statement is to enable those affected by Chromosome 18 conditions to overcome structural, medical and other barriers to aspiring to and achieving productive and fulfilling lives. As well as a focus on education and research one of their notable aims is to foster a supportive community surrounding those with Chromosome 18. The Glasgow certainly felt like a significant component of this last goal, by providing a space for families to share experiences and support each other.

    Speaking at the conference

    The striking aspect of the conference is that whole families have attended. Breakfast in the hotel was a more lively affair than I'm used to at the events. Children and young people, some clearly with cognitive challenges, were with their families. A well-staffed creche provided care for many of the children, although one or two preferred to join up in the conference hall. One boy actually joined a very accommodating and versatile speaker on stage.

    My slot is first, at 9 o'clock. It's a difficult time slot with numerous people arriving over the first 15 minutes as they finish breakfast and access the creche facilities. I work through the presentation, giving as many tangible examples as I can without breaching confidentiality. I expect numerous questions about individual situations, so have arranged to stay all day to cover this eventuality. In the event, I find myself asked to run two follow-up workshops, one about girls/young women and one focusing on boys/young men.

    Workshops

    The first workshop about girls and young women is overwhelmed with mothers and one father. Questions largely concentrate on any potential differences that Chromosome 18 might make and menstruation/periods and whether or not puberty would be delayed. The beauty of group work is that carers can bounce thoughts and experiences off each other. These parents came from all over the UK and one mother had travelled from Germany, so their experiences were vast and reflected differences between counties and even the countries which make up the UK.

    The second session focused on puberty among boys and young men, one of whom attended. As is common in such workshops, the emphasis was on masturbation and how to manage it in public arenas. The discussion was mainly on prevention of masturbation by thinking of techniques to teach the young person that their bedroom is the one private place they can practise masturbation and what to do if they begin to masturbate publicly. One of the notable points is that attending parents seemed accepting of masturbation per se, which can sometimes be an issue.

    The Chromosome 18 Family

    Figures for those affected by Chromosome18 are not clear and may be under-reported. 220 families joined the registry in 2017 alone and this is likely to increase with better diagnosis and knowledge of related conditions. At the end of the day of the conference everyone posed for a (if very large) group photo. It was at this point that I realised that most people knew the names of the children and self-advocates at the conference. This cemented the feeling of family and being supportive to one another.

    If you would like more detailed information about Chromosome 18 please refer to the website: https://www.chromosome18.org

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Kate E Reynolds - blogging

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