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31 . 5 . 18

22q11.2: what it is, what it does and why we care


Each year we choose a different charity to support and this year we chose the Max Appeal. The Max Appeal is quite a personal charity to some of us here at twentysix so we spoke to our Talent Acquisition Manager, Sam Wragg, to find out what they do and why it’s so important. Take it away, Sam:

Max Appeal

Max Appeal is a really small charity that looks after children and adults with a genetic condition called 22q11.2 deletion. If you’ve never heard of it, don’t worry, I hadn’t either so we’ll come back to it later…

So, the Max Appeal helps families by outreach: they’ll put families together. Say, for example, if there’s a family in Leeds and they didn’t know anyone else in the area that had a child or relative with that condition but wanted to meet other families that did, then the Max Appeal can match them and set them up to email or phone or even meet up!

22q11.2

Or 22q for short. 22q is a genetic abnormality where the chromosome 22q11.2 is missing from your genetic makeup. It manifests in a variety of ways: it can give you learning difficulties, social difficulties, physical difficulties – every case is different because every human is different so by missing that little part of your DNA it affects us in quite a similar way but in sometimes quite different ways as well.

Polly

My daughter Polly, who’s 11, was diagnosed with 22q deletion just over a year ago. So, we haven’t known for very long. We knew something was different or not right with Polly for a long time but for years I would go to our GP and say ‘There’s something not right with my daughter’ and because I was a first-time mum – Polly is our eldest – there was always this preconception with first-time mums that they say ‘Oh my goodness! A cold! Rush them to Great Ormond Street’ – and the GP would always say ‘Yeah, she’s fine. Each kid takes time to do things differently’.

But Polly would never reach milestones, she was never catching up with her peers. Or she would catch up and, suddenly, they’d shoot on to the next milestone or the next thing. There are things you’re expecting your child to achieve and she never did them.

She was asked to leave two schools – not because of her behaviour because that’s impeccable. It’s a 22q trait that they’re very soft children, very sweet and innocent and they don’t rebel – she was in private schools so she was asked to leave because she wasn’t succeeding, she was pulling back her class stats.

It wasn’t until we put her in the state system that she got the support she needed – they weren’t concerned with stats or their appearance. And then the schools started to say something was wrong with Polly too but we just couldn’t get it backed up medically.

Then Polly’s brother and sister came along and it really cemented in our minds that something with Polly wasn’t quite right. They excelled dramatically quicker than Polly ever did, both mentally and physically. I’d say Max and Matilda have now overtaken Polly in lots of different ways and Polly’s six years older than Matilda so that’s quite a big gap.

When we moved up here from London everything just seemed to align, I think it was timing. We’d relocated and we had a new GP. We went and poured our hearts out to him for hours and he referred us to a Neuro Disability Paediatrician at Dewsbury Hospital. He said the only thing Polly’s never been test for was genetics – she’d never been genetically screened – so they did something called a CGH array blood test which basically maps your entire genetic code and it highlights any genetic abnormality. And I think the reason she’d never had it done before is that it’s quite an expensive test for the NHS to run. You could have it done privately but it would cost you a fortune. And we’d never been told you could have it done so why would you know to ask for one?

So then when we had the CGH array done, we weren’t informed in the best way. We just got it in a letter that said ‘Your child has been diagnosed with 22q11.2 deletion’ – like ‘What?? What is that??’And that’s why we googled 22q – which you probably shouldn’t do! Google a diagnosis like that – because we didn’t know what it was and that’s how we found the Max Appeal. They have good SEO rankings!

Polly and the Max Appeal

The Max Appeal has been set up by people who have had children with 22q so they have first-hand knowledge. It steps away from the medical facts and looks at how you actually live with 22q or how you can support your child. For example, Polly might not be able to sit her GCSES. It’s little things like that that you have to plan ahead for and the Max Appeal are always there – they have a helpline so you can call them day or night.

The Max Appeal are fantastic with adults AND supporting children all the way through their adult life. They’re really really good at giving people access to tools and services and then supporting them through schooling, college and trying to get them into employment. Polly goes to senior school in September – which is terrifying – and the new school we’ve chosen for her has already noted that she may be better suited to doing a vocational education at 16 rather than GCSEs.

The Max Appeal and twentysix

Originally, it was just one colleague and I who decided we were going to climb the Yorkshire Three Peaks to raise some money for the Max Appeal but then our Managing Director, Ryan Scott, got wind of it and asked if we’d like to make the Max Appeal our company charity for the year and open the fundraising out company-wide.

So, now we’re doing loads of things to support the Max Appeal as our chosen charity this year! A team of almost 40 of us will be climbing the Three Peaks in August and we’re holding an auction at the Adelphi tonight! We have some amazing prizes, donated by our clients, suppliers and friends and family of Team twentysix. The Yorkshire Trustee for the Max Appeal will also be there – I’m really excited!

Look out for our auction action on Instagram (@twentysix_digital) or sponsor our Three Peaks walk on Just Giving!

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