SWAN UK is so much more than just a chat forum!

EJ playing with some foil balloons

A post for Undiagnosed Children’s Day 2017

When J was born 6 years ago, our blissful newborn baby bubble was burst in a matter of days, by an echocardiogram, a skull x-ray and some chromosome blood tests before we even left the hospital.  This was the beginning of a very confusing time and a long list of hospital appointments and tests, over many months and years, as each came back ‘in the normal range’, ‘clear’ or ‘negative’.

J’s main ‘symptoms’ (impossible to see in antenatal scans or in a newborn baby) are developmental and sensory disabilites, which gradually became more and more apparent as she grew older, but, especially as J was our first child, it was hard to tell if early symptoms (reflux, low muscle tone, heart murmur etc), were anything to be concerned about. As the tests seemed to say otherwise, we often felt like neurotic first time parents and, living in limbo, without a diagnosis felt very isolating. You can read a little bit more about that time in my post Monkeys & Swans

We felt like the only people in this position, and didn’t really feel like we fitted in regular parenting groups, but without a name for J’s condition, I didn’t know where to look for somewhere we would feel we belonged.  If only I’d thought to google ‘Syndrome’s Without A Name’ or ‘Undiagnosed’ earlier in our journey as SWAN UK (Syndrome’s Without A Name), the only dedicated support network available in the UK for families of children with undiagnosed genetic conditions, was there all along!

We found SWAN UK just over 4 years ago, when J was a little over 2 years old and I can’t really explain how much of relief it was to find we were not alone.  That there were people who ‘got it’. And that there were people we could turn to for advice and support.  It truly was a lifeline of sorts.

I know Facebook has a bit of a bad press sometimes, and it can be a bit, ‘look at me and my perfect life‘, but it does also provide those who, for whatever reason, struggle to connect with others in real life a fantastic and easy to access medium to make those connections further afield.

SWAN was not my first dabble into support goups and internet forums.  Before J and W came along, my husband and I went through an emotional few years of recurrent miscarriage and I found refuge in an amazing bunch of women in a miscarriage support forum on Babycentre website.  Many of us have met up in real life and are still in touch now via Facebook.  I guess it’s a similar scenario in that, although miscarriage is extremely common, people don’t really talk about it and you can feel so alone.

But what I also want to highlight today is that SWAN UK is not just another forum.  Not just a webpage or a just a Facebook page.  It’s all of those things, plus there’s so much more going on behind the scenes that help to support families like ours!

The main aims of SWAN UK are:

Develop and support a community of families of children affected by undiagnosed genetic conditions.

Support the development of high quality information and services for families of children affected by undiagnosed genetic conditions.

Raise public and professional awareness of undiagnosed genetic conditions and the unique challenges faced by affected families.

So what this looks like to me (and this is just me as a parent member, I know there’s lots more I don’t know!) is:

An amazingly supportive facebook group/forum with families from all across the UK!  The group is really warm and friendly, and as it’s moderated by SWAN, and a host of volunteer parent reps, it’s not a group that suffers from confrontation or competitive parenting (like some other groups I’ve joined in the past and pretty quickly left again!).  There’s usually someone around 24/7, so there’s pretty much always a listening ear.  It’s a great place to come for advice, support and gentle ‘cyber’ hugs when you need them, as well as an place with encyclopaedic knowledge for asking totally practical advice such as types of equipment, filling out forms!  There are also separate smaller regional groups, so people closer together can arrange informal meet ups and chat about specific issues in their areas.  As well as allowing you to break the geographical barriers, another benefit of being online is that you can get involved as much, or as little, as you like, and are perhaps are more comfortable to speak openly with in a ‘virtual’ community than you’d be in real life.  The groups are all ‘secret’ so membership cannot be searched for by anyone not in the group either, so you have anonymity if you want or need it.

EJ playing with some foil balloonsIn addition to the forums, SWAN also organise and fund lots of family get togethers throughout the country! We’ve been to the zoo, a maize maze, to a soft play party and on a train ride over the time we’ve been members!  I’ve loved meeting some of the other localish families in real life, lovely to meet the children, and them to meet each other, and I think as W grows older, meeting the siblings of other undiagnosed children will also become really important for him.

Balloons!  This may sound a bit superficial, but I can’t tell you how lovely it is to receive a lovely gift of balloons, knowing our SWAN family is thinking of us and providing lots of fun! Who doesn’t love a balloon!?  SWAN try to send balloons out to children in hospital, going through a particularly rough time and occasionally randomly just to make a child smile!  As you can see in the picture, the balloons we received went down very well!

SWAN UK do a lot of work with professionals too, to raise awareness within the disciplines that families will come into contact with on their childhood journey, from Midwives and Health Visitors to GPs and NHS decision makers about the added complexities families face without a diagnosis, and pressing for better co-ordinateion of health care and social care.  Some key successes they’ve been integral in, in this area are the appointment of a specialist undiagnosed nurse specialist at Great Ormond Street and a specialist Rare Disease unit at Birmingham Children’s Hospital!

Houses of ParliamentSWAN UK, and their parent organisation Genetic Alliance, are also working with the government on policy around research, resources, services, treatment etc of rare genetic and undiagnosed conditions.  Genetics is such a new and fast moving science there’s so much happening that could make such a difference! I got to see a little bit of this work first hand last year, when SWAN UK parent reps and bloggers were invited to attend the first report of a new APPG (All Party Parliamentary Group)!  So amazing to see Genetic Alliance and SWAN influencing at all levels to help improve services for our families and really interesting to see parliament at work too!

So the reason I’m writing this today is it’s Undiagnosed Children’s Day!  A day to make a group effort to let the world know about the work SWAN UK do! They already support 2000 families of children with undiagnosed conditions but, as 6000 children are born every year with no diagnosis, there are many more they could be supporting!

List from SWAN UK website showing how various amounts of money can be spentSWAN UK are asking us to be detectives today and help find those families (like ours) who could benefit! Help us spread the word!

If you know someone you think might benefit from joining the swan community please do pass this on, and if you have a child with an undiagnosed condition please do join the community! It may sound overly gushy, but SWAN UK really is like a big friendly (and non-judgemental!) family and I don’t know where we’d be without their support! You can sit in the background quietly, or get stuck into chat in the forum, either way SWAN is there to support you and they are out their advocating for all of us!

SWAN UK relies on grant funding and donations and this list shows where some of this money is needed. If you can please help them keep up the great work for families like ours!

DONATE

Find SWAN at:

Website: www.undiagnosed.org.uk

Email: info@undiagnosed.org.uk

Facebook: @SWANchildrenUK

Twitter: @SWAN_UK

Instagram: SWANchildrenUK

 

Spectrum Sunday
Keep Calm and Carry On Linking Sunday
Mummy Times Two

slipping through the cracks

A post for Undiagnosed Children’s Day, 29th April 2016….

The very nature of an undiagnosed condition (a Syndrome Without A Name) is that it is not the same as any other that’s been identified.

Of course, every single one of us is different (whether deemed to have any physical or mental health condition, disability or not). And people who are diagnosed with a syndrome can be affected by it in very different ways (in the case of rare disease there may be very little known about the condition at all!), so diagnosis rarely gives a full picture.

And perhaps there are disadvantages to being ‘labelled’? Largely around preconceptions and conclusions that are leapt to about how YOU may be affected – when in reality there’s likely to be a huge variation from person to person.

However there are advantages in diagnosis too, which I’d say outweigh the disadvantages no matter how rare the condition, not least because it can help to stop you slipping through the cracks.

EJ as a new babyMy antenatal tests gave no indications that EJ would be anything other than ‘a normal healthy baby girl’ – a commonly used phrase, and one that pregnant women are so eager to hear.

In the past perhaps I hadn’t really considered the implications of the phrase, how it separates ‘normal’ from, from what? abnormal? different? unique?!

As a phrase it now it tends to make me wince, because….

What is ‘normal’?

Indeed, what is ‘healthy’!?

When EJ was born, a few ‘issues’ rang some bells with the neonatal paediatrician and he ordered chromosomal blood tests while we were on the maternity ward.  These came back ‘within the normal range’ so we were sent home reassured there was nothing ‘wrong’ with our new little baby bundle.

I can totally see how at this stage, with no evidence to suggest EJ wasn’t going to follow the typical child development path, it wouldn’t necessarily have been appropriate (or indeed helpful!) to launch into the full complexity of genetics and confuse a couple of tired and anxious new parents.  However there was obviously in inkling there…..

…..and very gradually EJ began to collect more symptoms, including missing most of the typical development milestones, and her differences became more & more noticeable the older she got, and she began to stand out from the baby crowd.

The added complexity for us was that we moved NHS trust when EJ was 6 months old, so we had to start afresh with a new set of health professionals. Our GP notes of course would follow, but not instantly, and apparently notes and test results from hospitals don’t, they have to be requested specifically!

Thankfully we found our new GP surgery to be fantastically supportive and EJ was referred to our new hospital without fuss.

We then embarked on a very confusing journey of test after test, normal results, clear scans and more normal results.  Being passed from one department to another, in and out of hospital clinics and community services.

EJ sitting unaided at 18 months
EJ sitting unaided at 18 months

EJs symptoms (even her heart defect) could be related to ‘normal’ paediatric issues, so rather than being joined up, as they would more likely have been had she been diagnosed, were left feeling confused, even neurotic and paranoid about reading too much into things.  We didn’t really know what questions to ask or even who to ask…..

We were also left feeling guilty and worried that perhaps we had done something wrong? Being asked by every new clinic the same questions about her history, even going over and over how my pregnancy had gone – did I drink or smoke or take drugs in pregnancy? – is all pretty guilt inducing! We’ve even been asked several times if me and her dad are related! – I know these questions have to be asked, but perhaps once is enough….? Perhaps a clear crib sheet at the front of medical notes!?

And all the while (we had a lot to take in, so unless things were spelled out it may have washed over us!) I don’t remember anybody saying (given her symptoms) that it was pretty likely that EJ did have some form genetic disorder no matter what the results of the tests.  In fact I’m not even sure how many of the non medical professionals involved were aware that living with an undiagnosed condition is such a common state of being, sometimes not just a stage while you wait for meaningful test results (6000 children a year are born with an undiagnosed condition!)….I’d even hazard a guess that some may have suspected it was all in our minds…. as they (like us!), would have expected something to have come up in some of the tests EJ’d had.

The health, social care and early years education system can be complicated and confusing enough for anyone, but I think where having a child with an undiagnosed condition differs from those with known syndromes, even rare ones, is that without a ‘name’ you feel like you are constantly trying to convince people that there really is ‘a thing’.  Whether that’s a thing (as for EJ) affecting her sensory processing and in turn her development, or a thing linking a group of medical problems together. Many, like us, feel isolated, perhaps not feeling like you qualify to join ‘additional’ needs groups (but can’t relate properly with mainstream), don’t qualify for help, and that perhaps you are a fraud for taking up valuable NHS time?!

Many undiagnosed children have extremely complex medical needs, many from birth or even before they were born, so unlike EJ will have been ‘in the system’ from the beginning – but, from what I understand, this doesn’t necessarily mean care is better co-ordinated.  For many, one medical symptom will dominate, and that medical specialty might take the lead in fire-fighting that need, but they are not necessarily the right team to be investigating the cause and leading on the overall care of the child.

I really don’t mean any of this to sound critical of any of the individual people, teams or clinics involved, or indeed the NHS or social care. Far from it! Overall we have had wonderful care!  We really do understand the massive strain and funding constraints on the NHS and social care, and the limitations of working within a framework of approved techniques, medications and therapies.  However that’s not to say there couldn’t be big improvements in coordination of the care, particularly for patients with undiagnosed conditions.  More coordination could also bring more efficiency (and less frustration!) for all involved, freeing up those in the caring and medical roles to ditch some of the admin and get on with what they want to do, providing support, treatment, therapy etc

With many known syndromes there are often typical symptoms and treatments, and you’d be put in touch with key teams, relevant tests carried out and early intervention therapies begun from the start with a coordinating specialist overseeing the care.

With a rare condition a plan is less likely to be in place, but at least there is a focus, something tangible even if still confusing.  There is likely to be medical research going on, some interested specialists (which can never be the case for undiagnosed patients as they are all so different, we are all hanging around hoping to grasp at the coat tails of some identified condition).

Being diagnosed also gives you the opportunity to meet and engage with other families in a similar position, however few of them there are.  It’s such a human need to be able to share experiences with others who understand – which is why SWAN UK is so important to us undiagnosed families, because although we are all so very different, we do share challenges and the confusion of the unknown.

EJ now 5, practicing standing with dad
EJ now 5, practicing standing with Dad

EJ’s long list of symptoms don’t really help give a full picture of her condition since they can be attributed to many other known syndromes and ‘normal childhood issues’ which means that we don’t know what the future might hold.  In many ways I find this liberating, as there are no preconceptions about what her life and achievements will be.  However it also raises difficult questions – Will she walk (what adaptations will we need to make in our home)? Will she talk (will we ever be able to communicate)? Will she be able to live independently (how much support or not will she need – what happens when me and her dad are gone!?)? Will she develop any associated health problems? Will she have a shorter life expectancy (actually I don’t think I want to know the answer to this last question!)!!!?

Genetics is just so bloomin’ complicated!  We’re just at the tip of the iceberg in this area of medical research and, in the meantime, a long way to go to make sure it is acknowledged across the board that even if the tests don’t find an answer, it doesn’t mean there’s not a genetic glitch hiding somewhere, and that the family affected still needs the same level of help, support, treatment and therapies as those who are diagnosed with known conditions.

Last Undiagnosed Children’s Day a very exciting announcement was made for a new Roald Dahl SWAN nurse post at Great Ormond Street Hospital (there’s a great clip on this link of an interview with the super campaigner behind Just Bring The Chocolate about the new position).  And also since then two new specialist nurse positions at Birmingham children’s hospital for a rare disease specialist nurse and a genetics specialist nurse!  We in the SWAN community are holding our breath hoping these new roles will show the NHS just how much of a difference these coordinating speciast roles can make  – and hoping they can be replicated at all the children’s hospitals and major teaching hospitals….. no pressure new recruits!

In parallel it’s so important that awareness is spread generally, and among frontline professionals that will come into contact with new parents (midwifes, health visitors, SENCos etc), that being undiagnosed is actually a ‘thing’ and that there is help and support out there in the form of SWAN UK!

This blog post forms part of an amazing series by SWAN parent bloggers for Undiagnosed Children’s Day 2016.  Check them out via the blog hop link below!

And if you can, please support the work of SWAN UK via their website