News & Events

Twelve months on…

Last Reviewed 27/04/2016

By swan uk member, parent rep for the east midlands and blogger, Jo Burt - itsallapickle.wordpress.com

 

As part of our SWAN UK Bloggers group celebrations for Undiagnosed Children’s Day (you should all know that’s Friday 29th April) and my attempt to write something half readable every week (!) It’s been suggested that I think about this time last year and what’s happened over the last 12 months.  So here it is, a little somewhat self-indulgent post from me!

Well Jacob is still not diagnosed!  The long awaited result of the Deciphering Developmental Delay Study came back negative.  He’s had his exome sequenced and nothing significant has been found. 

I say long awaited, we consented and sent our samples off for this trial four years and five months before we got our annoyingly deflating negative results.  The next step will to be recruited for the 100,000 Genomes Project.  We have been told that all participants from the DDD study with a negative result will be recruited but I’m waiting to hear from our Geneticist.  Note to self “send him another email”!  Meanwhile one of the SWAN families has received their diagnosis from this study, raising all our hopes again.

So after that set back I admit I was a bit down and had a good sulk for a while.  But ultimately it doesn’t change anything for Jacob, it just makes explaining him and his needs harder for us. 

The little man himself is pretty much the same but so much bigger.  Now 12 ½ he seems to have shot up and I’m aware that puberty is just around the corner!  I have no idea what challenges that will bring!

Next year he will be going into year nine and that’s when we start to think about transition to adulthood.  Now I’ve been putting off thinking about this for some time.  We both have an idea of what we would like for him but it’s going to mean some really tough decisions.  Letting him go out into the world bearing in mind he will always need 24 hour care is not something that will just happen as it will for our non-SWAN.  She is approaching 18 years old and hopefully university next year or the year after. The irony of having one child that seems to be growing up too fast and one that will never grow up is not lost on me!  Just as I think I’m soon going to run out of things to blog about I realise we have a huge bunch of stuff around the corner that’s going change everything again. 

I’ve put off thinking about transitions too because in the current climate economic cuts and blatant disregard for our most vulnerable in society (little bit of politics!) I don’t want to find the perfect package of care for Jacob only to have it whisked away cos there’s “no money”.  But it’s coming, and I know the sooner we start the better.  It’s going to involve a huge amount of meetings and an even larger amount of evidence will be needed to prove he requires the level of care and input we will be asking for.  I’m fully prepared for a fight.  Luckily for me I’ve had a bit of practise so I’m ready, but I’m dreading it.  The decisions themselves are going to be hard enough.

Jacob’s Statement of Special Educational Needs will be converted to an Education Health and Care Plan this summer too.  Again I’ve known this was coming for a while and having been to meetings and done the IPSEA training on the Children’s and Families Act 2015 I’m hoping this won’t be purely a paper exercise!  This should be an opportunity to lay down the specifics of his requirements in a legal, prescriptive way.  The key difference between Jacob’s statement and his EHCPs is that, as well as education, it will also outline his health and social care needs, the outcomes and the support needed to achieve them.  My concern  is that however great his plan is I’m still going to have to ensure it’s delivered.

(This is a great resource for anything regarding Statements, EHCP or the Children and Families Act 2015 https://www.ipsea.org.uk/)

Looking back, in SWAN UK terms, for me it’s been a busy and funny old 12 months!  Mainly dominated by social media, public speaking (!) and meetings with my SWAN UK boss.  When I started as a Parent Rep I said that I wanted to be pushed (gently) out of my comfort zone and I certainly have been.  I’ve started blogging, tweeting and giving presentations to professionals.  I’m looking forward to the next 12 months. 

I’m amazed by the support I’ve had for my blog, fundraising events and well everything else really.  Couldn’t do it without my family and friends … you know who you are!  For the practical help and listening to me banging on about something or other I will be always grateful.  I think everyone who meets Jacob gains something from the experience.  He certainly teaching us a lot.  Not just about all the disability, special needs stuff but about life generally.  What it means to be patient, determined, resourceful, open minded, to appreciate little things, the list goes on.  I don’t know what kind of family we’d have been without him and I don’t’ think I want to know!

 

By SWAN UK member, blogger and Parent Rep for Nottingham, Jo Burt 

If you'd like to share your story please email info@undiagnosed.org.uk.

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