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Rare but not alone

Global Genes Day graphic with EJ's photo in a heart shape, tag line: I love someone rare

We are members of SWAN UK, a fantastic support network for families of children without an overarching diagnosis for their medical conditions and/or disabilities, support for families of those with a Syndrome Without A Name.

2 year old EJ sitting on a play mat, wearing pink and blue for undiagnosed children's day 2013
EJ wearing pink & blue for her first Undiagnosed Children’s Day, April 2013!

We didn’t find SWAN (run by the charity Genetic Alliance) until EJ was 2 years old, when we found a leaflet in our enrolment pack for the DDD study.  Until this point all the standard NHS genetic tests available had drawn a blank in identifying any particular reason for her developmental delays and we had felt pretty confused and alone.  (You can read a bit more about this uncertain time here and here.)

The DDD (Deciphering Developmental Disorders) study is a far more detailed method for genetic testing than the NHS can offer (which coincidentally is being carried out just down the road from us at the Sanger Institute in Cambridge!), using new technologies to try to identify particular gene changes responsible for developmental disorders.

“Instead of having a targeted test for a particular change, we therefore have to look across all of the child’s genome to find out if and where a change occurred which caused the disorder” – www.ddduk.org

This analysis of the whole genome can take some time…..

…. and in the meantime we have become quite comfortable being part of our big ‘SWAN’ family.  We’ve found help, advice, comfort, true friends and love in our extremely diverse community, and have celebrated Undiagnosed Children’s Day at the end of April each of the 4 years since we joined.

However this year is a little different.

And I’m actually writing this particular post to coincide with another awareness day, Rare Disease Day, because (quite out of the blue as we’d almost given up hearing anything at all!) we received a letter via EJ’s geniticist that the DDD study has found a gene change that is the probable cause of EJ’s disabilities! So, quite unexpectedly EJ may have become a ‘graduate’ SWAN (although I am relieved to say that graduate SWAN families are most welcome to remain part of the big SWAN family – phew!)!

Global Genes Day graphic with EJ's photo in a heart shape, tag line: I love someone rareOf course you are always advised to steer clear of Dr Google, but when it’s been 5 years since investigations began, you kind of can’t not google!? And also, when you are dealing with something so rare, and so new, there’s almost as much information out there in the hands of Dr Google as there is available to the medical professionals (granted I’m not quite as qualified to interpret it all as the real doctors!)!

I’m not sure if there is a right way to give a family a diagnosis, especially such a long awaited one.  I’m not even sure if this counts as a diagnosis as such? Too fledgling a discovery even to have a name, other than the gene name, KAT6A.  We were told via letter, which may sound a bit blunt to some, but I think I would have worried myself silly having received a more cryptic letter asking us to attend an appointment at a later date, or a telephone call, which always seem to come at an awkward time.

I think it probably depends on the news.

The information we were given was not frightening to us. Internet searches of EJ’s gene glitch brings up almost an exact list of the symptoms we already knew about for her.  I think if there had been more worrying symptoms listed I might feel differently, and perhaps the news would have been delivered differently?

After Dr Google, our next move was to check Facebook to see if there were any other families out there, and, lo and behold! There are!  So far, around 70 (mostly children) all across the world, including a few others in the UK, who have disabilities almost exactly like EJ!  Some of the families have even gathered together the information known about the KAT6A gene change on this new website!

I’m not yet sure how much difference having this information will make.  In some ways a relief?  We may learn some useful things through research into the gene change… issues around health? Perhaps improved strategies to help EJ reach her potential?

However the loveliest thing about the diagnosis so far is finding those other families, and also discovering some of the ‘behavioural traits’ linked to the condition are ones that we know & love!….

A happy demeanour! Always smiling, loving cuddles, giggling and laughing often!

And so it seems we are embarking on another stage of our journey….. but always thankful to have our SWAN family travelling with us!

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Accessibility Stories 02.17

A rusty key with title "Accessibility Stories 2017 Linky"

Thank you so much to all those who linked up last month!

Round Up from last Month

At this time of year many of us are thinking about booking our summer holidays, however for families with physical and sensory access needs, staying away from  home can be stressful! It was lovely to read this positive holiday experience by Rainbows Are Too Beautiful.  Particularly interesting for us as both my kids love being outside, especially EJ who thrives on the immersive sensory experience nature provides (the light and shade, the feel of wind and rain, the differences in sounds, smells and even tastes) so a forest holiday would be ideal for us, and a holiday home with a safe outside space would be perfect!

A rusty key with title "Accessibility Stories 2017 Linky"A few of the posts last month were about how just getting out of the house can be a mission, never mind going on holiday!  In this aptly named post, Project Get Out of the House, Orange This Way determines to start a new #wheelygood resource for Devon and Cornwall to help visitors and locals alike to find wheel friendly places & activities!  In Where Were the Good People, Ordinary Hopes asks why people stand by and allow others to struggle, and even become victims of bullying behaviour, sometimes in circumstances where a little thoughtfulness or a kind gesture could easily make all the difference.  While on the other hand, Raising a Superhero tells of a lovely Christmas outing where inclusion was at the heart of the experience and is definitely an Afternoon Tea with Father Christmas I’ll be looking up next festive season!

Accessible toilets is a favourite theme, well, when I say favourite theme I agree with Ordinary hopes in her post Petitioning for What?, in that we shouldn’t even need it to be a theme for discussion (…please do sign the petition though!)!  However on reading this update by Mum on a Mission about her an ongoing correspondence with Cineworld it’s pretty clear that we do need to continue to lobby for greater clarity of standards, as the big service providers still seem to believe the guidance doesn’t apply to them!

On the positive side for loos, it was great to read this fantastic guest post by Brody, Me and GDD about changing places toilets on Mumsnet, with loads of fantastic comments, many from people who hadn’t heard of the campaign before – it’s always brilliant to reach and gain support from people not directly affected by the issues!

Linky Info

This linky will be open for 2 weeks, please do share your posts about ideas and experiences (good and bad!) around physical and/or sensory accessibility of buildings, places, spaces and products below…. And do check in again next month to read the round up! Guidelines:

  1. Link up to 2 posts each month (old or new)! It would be lovely if you could add my badge (cut and paste the code in the box under the badge image below and add it into your blog post while in ‘text’ mode of your blog editor) or add a text link back to my site so that people can find the linky and read the other blog entries;
  2. Please comment on this post to introduce yourself if you’re new to the linky, and comment on some of the other linked posts to help share ideas and experiences!
  3. It would also be amazing if you could share your post (using the hashtag #AccessibilityStories and/or the shorter #AccessStories) on social media to help spread awareness of the issues around accessibility!  I’ll also try to retweet as many posts as I can!
  4. I welcome input from anyone that is affected by accessible design – users, carers, friends and family as well as designers, developers, managers and legislators (so pretty much everyone then!). I welome blogs from professionals and suppliers as well as individual bloggers as long as they keep within the spirit of idea exchange and are not sales posts for products or services.
AccessibilityStories

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Not enough space?

Hand sketch of a changing places toilet in the proportions of a car parking space, overlaid on a photo of a car park

Quite often, when discussing changing places toilets with new people, the size of the room comes up, and often becomes a bit of a sticking point!

To be fair, in isolation, at 12 sqm a changing places toilet does sound quite large, particularly if you are comparing it to an individual toilet cubicle, or even a standard accessible toilet.  But then that’s one of the main reasons many people need a changing places toilet rather than one of the other type of toilets, simply because they can’t get in to the smaller rooms!

(Follow this link to a post I wrote previously about how accessible the average accessible toilet is).

When people get stuck talking about the floor area a changing places takes up, it sometimes feels as though they forget that all toilets take up floor area (and cost money to install!) – even the inaccessible ones!  But they do take up space, and quite a lot of it!  If you visualise a standard women’s toilets for example, the cubicle is just one element, there’s also the space needed for the vanity unit, with bank of wash hand basins, and the circulation space in between the two.  And then you’ll also have the mens loos, at least one standard accessible toilet (hopefully!) and perhaps (depending on the building type and location) a baby change or family room too, which is often a similar size to a changing places toilet!

All those other toilets have limited access, whereas a changing places toilet, is very accessible!  Changing places toilets are generally considered the add on, taking up extra space, but I think we are looking at things the wrong way round.

If there’s only space for a few toilets in a venue, why not start with the most accessible and add the least accessible rather than the other way around?

I’m a bit of a numbers geek, so I decided to try and think of spaces that people know really well, to help visualise the area required by a changing places in context with something familiar, and, do you know, one of the simplest of things many of us use everyday is, give or take 0.5 sqm, exactly the same area as a changing places toilet!?

A car park parking space.

Hand sketch of a changing places toilet in the proportions of a car parking space, overlaid on a photo of a car park

Not a blue badge space, or an on street parking space (which are actually a bit longer) or even the slightly more generous kind that some car parks now provide to accommodate bigger modern cars…. nope!…. a totally bog standard (excuse the pun!) minimum size car parking space is 2.4 m x 4.8 m, which is 11.5 sqm in area!

A space most of us take for granted.

Car parks occupy massive amounts of space (sometimes in multi-storey structures or excavated basements underneath buildings which involve reinforced structures, car ramps and all sorts of expensive engineering just to enable us to leave our cars occupying a space while we’re not even there!)!  …. so when the reason given for not installing a toilet in a building or venue (a toilet that most people could use!), is lack of space, I really have to wonder…!

P.s. The above graphic isn’t about adding changing places toilets into car parks, its a comparison of the size of a changing places toilet in context with the size of a space we are all very familiar with!  However it does bring to mind the image of those mobile toilets provided in trailers for temporary events!   So if you are organising an event, please do take note that a changing places toilet does fit in a trailer too, and there are a couple of suppliers who can provide mobile options that you can hire to make your event truly accessible!