Where are the 98%? #Undiagnosed

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Swan UK – Syndromes without a name – supports families with undiagnosed children. Currently Swan UK has a membership of around 2000 families – this is fantastic and the group is growing. However we know that around 6000 children are born every year who remain undiagnosed, which equates to over 100,000 children in the UK.

You can help us to find the 98% – those families currently walking this journey alone, who are unaware of the support available to them.

Why do we want to find them?

Do you remember being pregnant for the first time? That sense of joy, being overwhelmed and excited all at the same time. Do you recall how it felt to meet up with other pregnant ladies / expectant fathers at the ante natal classes, or to talk to those already with kids – the comfort in knowing that it is normal to feel exhausted, talking to others who have experienced the joy of the first kicks, the worry that comes with parenting.

Think back to when your baby was born – looking to the midwife for reassurance, googling the tiniest symptom for information, checking their weight against the little red book – the baby bible. The first day at nursery or school when there was not a dry eye at the gate – all of the parents in the same position.

Having a reference group is really important, others who can empathise and be around to support through the good and the bad.

The loneliness of being Undiagnosed

Now imagine that journey of pregnancy, being a first time parent, seeing your child grow but without that reference group around you. Imagine being the only one who was or has ever been pregnant. Imagine looking to the midwife for reassurance and instead getting a puzzled look. Imagine standing alone outside the school gate on the first day.

This is how it felt to us before we found Swan UK. We were alone, isolated and desperately searching for answers. We still don’t have many answers but we do have place to go, a safe haven of others who understand how it feels. A group who face similar and altogether different challenges but who support each other through every step and together celebrate the good times.

A previous blog describes how it feels to remain undiagnosed:https://theworldofgorgeousgrace.com/2017/04/24/welcome-to-no-mans-land-undiagnosed-2

How Can Swan help

No child or parents journey is ever the same and each and every Swan is unique, however the value of having a virtual group around you, for support if not always answers cannot be overestimated.

Swan UK offers a range of ways to support families:

  • An active Facebook page – the source of a wealth of knowledge and 24/7 support from others in the network
  • Advice on genetic testing and the latest parliamentary as well as medical updates
  • Regional groups – both virtual and real life get togethers so we can meet others in a similar position
  • Funded days out that would otherwise be unobtainable to most families – including support for those who need practical help on the day
  • Campaigning to raise awareness and ensuring the undiagnosed and not forgotten

Undiagnosed Children’s Day 2017:

This years Undiagnosed Children’s Day is scheduled for 28th April and we would like you to help us find the missing 98%. Please share our blogs and stories on social media and help to find those who do not yet know how we can help.

How to Donate:

If you would like to make a donation to Swan UK you can do this via Just Giving or Virgin Money Giving or text SWAN11 plus the amount (up to £10) to 70070.

GG’s Learning Disability Journey – Why Change Is Needed

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GG has an undiagnosed genetic condition and is known as a Swan (Syndromes Without A Name) however as part of her condition, GG has lots of diagnosed elements – 3 types of epilepsy, low muscle tone, hypermobility, squints and amongst the most recent, a severe learning disability.

I recently attended a conference for parents of children with learning disability (LD), particularly around challenging behaviours – a topic I have written about before: https://theworldofgorgeousgrace.com/2016/10/05/is-there-any-help-out-there/

In that one day I learnt more about LD and what should happen when a child is diagnosed, both from the speakers but equally importantly from other parents. It became clear that the experiences in the room were inconsistent, that support is inadequate and parents felt lost and isolated.

Over the past few weeks I have reflected on our LD journey to date and wanted to share and explain why change is so desperately needed.

Being diagnosed with a Learning Disability

The way we received GG’s LD diagnosis was far from ideal. It came in a letter, out of the blue. It was a referral letter for another set of tests, in which the little summary of medical issues which is listed at the top of all correspondence, suddenly named ‘Learning Disability’.

Up to this point the catch all (and personally detested phrase) had been Global Developmental Delay (GDD). There was no explanation for the change in terminology and certainly no consideration to the parent receiving such a life changing diagnosis via a routine letter. When questioned we were informed that around the age of 5, GDD is re-evaluated, and GG had been assessed to have a learning disability.

Our Learning Disability Pathway

As outlined above, this was not our first experience of a new diagnosis however it was a very different experience. When compared to the epilepsy diagnosis for example, a neurologist was involved, immediately assessments were organised, EEGs were requested, medication discussed, support groups flagged to us. Yet, an LD diagnosis which has been equally life changing was delivered with no package of support, and to date the only assessments GG has had we have paid for privately due to an absence of any other option.

NHS guidelines state that a Positive Behaviour Programme should be agreed for all children with LD. In our area, children under 9 are not offered LD behavioural support as it is deemed to be difficult to ascertain how much of their behaviour is due to circumstances at home vs. their learning disability. GG is diagnosed through a number of reputable assessments as having a severe Learning Disability but this does not afford any support until she is 9 years old. Yet, it is clear that early intervention is highly recommended from all LD specialists.

 Managing LD Associated Health Risks

Within the last 2 years, we have specifically asked whether GG would have a normal life expectancy -accepting it can only be based on information known at the time. We were told as long as the epilepsy remained under control, there was no reason GG would not have a long life ahead of her. We were more than a little relieved and turned our attention to providing a stable and secure future for our gorgeous girl.

However, at the aforementioned conference, I learnt that this is completely inaccurate. Research shows those with LD typically – and utterly shockingly – die around 20 years younger than those without. There is a clear Government backed mandate to improve the prognosis of those with LD as tragically, many deaths are avoidable.

We were not given these facts, that there are higher rates of stomach cancers, heart disease, leukaemia, diabetes…..had we known we may have tried to address GG’s high dairy diet before now. We were not even told to register GG on the LD register with the GP. We were completely devoid of known information that should have been available to us.

Again if we compare to the epilepsy diagnosis, we were made aware of an increased risk of death during sleep (SUDEP), we have video monitors, movement monitors and ensure we regularly check in overnight. It is really tough to hear but we would rather know and do our utmost to manage the risks.

So What Next for GG?

We are on the cusp of starting a new life in the countryside and moving our family North. Armed with new information, a supportive network of LD parents and superb LD professionals campaigning for change, we are determined to ensure that from here onwards, GG has a much better experience. I know what to expect and what to ask for. 

I am also committed to ensuring that others have a better experience and hope that by sharing our journey, it will help to shape the much needed changes to come.

 

What was I thinking? The rookie mistake of a SN parent.

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The meeting

It is 6 weeks since the appointment where my son, just 3 years old, sat playing through (yet another) appointment about GG – this time the educational psychologist. As we were chatting through some of the challenges at home, with the backdrop of Fire Engine noises, I hear a little voice say ‘GG hurts me’. The educational psychologist instantly dropped to the floor and played with him while encouraging him to expand. Yes, GG does play nicely with him – sometimes. Yes, GG can be fun. Yes, GG hurts him. How? Hair pulling, hitting, kicking….every day? Yes. From the mouth of a babe.

I tried so hard to hold it together but inevitably there were tears. There was this amazing little boy, my incredible little boy, who never hits back at his sister – despite holding his own in the nursery play area – describing to a stranger the good and the bad of being a special needs sibling.

The flashbacks

I frequently find myself having flashbacks to that meeting, searching for ways that we can help both GG and her brother to have a more positive relationship. There is no manual for how to support a learning disabled child, engage in meaningful play with a younger sibling who happens to have greater skills.

The ongoing challenge

There are moments of absolute pleasure – a game of hide and seek which leaves both children in fits of giggles. Unfortunately there continue to be lots of lows, occasions where we did not predict the lashing out of a very frustrated child, several potentially serious near misses – a push as we are making our way downstairs or fingers in the eyes. We have tried gates to keep them apart, we have tried never letting them out of our sight but with two mobile children and dinner to make, it’s not possible to be all things to all children. The ‘wiser than her years’ older sister who is so good at predicting and preventing trouble.

There is no doubt that GG adores her brother but he is also a sensory overload nightmare to her. Has anyone tried asking their 3 year old to quieten down because his sister isn’t coping well with noise? I know before I have said it, that my request is futile. Often, neither child is playing up but compatibility is a significant challenge.

 The rookie mistake – what was I thinking!

Then I made the rookie mistake – despite being 6 years into our SN journey. I described the meeting and the words of my little boy at a mainstream toddler group. What was I thinking! The immediate silence, barely masked looks of horror, parents holding their toddlers tight – trying to imagine a world in which they are regularly hurt by a sibling. Then the attempt to normalise our experiences – ‘it’s just normal sibling behaviour’, ‘all siblings fight’, ‘it’s just a phase’. Me wanting to sink through the floor, wondering at what point I lost my senses.

It’s important to speak out

It has taken me 6 weeks to feel able to talk / write about this, I know it is important to share and that I am not alone. However, I should be able to protect my little boy and I should be able to help my little girl to find other ways to express herself. I never stop seeking help and support. Inevitably I still have no report from the educational psychologist meeting but 6 weeks is nothing in my experience. The dream of some professional input from school being a distant lifeline.

I am however attending a workshop in just a couple of weeks time, where I have high hopes of obtaining some professional input, meeting others in a similar situation and hopefully come away with some new tactics. You can find out more here: http://yvonnenewbold.com/childhood-violence-autism-pda-adhd-or-a-learning-disability-conference/

 

So what is ‘really disabled’ Mr Freeman?

rdd-logo-transparentHow can a politician decide-  over the expertise of a medical professional – that a physical disability is a ‘real disability’ whereas less visible disabilities are not?

It was with dismay that I read about the plans to restrict Personal Independence Payments to the ‘really disabled’ – so what does ‘really disabled’ mean? From the list published today by the Department of Work and Pensions, it basically means a visible disability. A wheelchair user or a blind person are quoted as being those in need of most support. However, if you have autism, a learning disability or anxiety disorders (plus many more) you are not in the eyes of the politicians ‘really disabled’ – despite being diagnosed by medical professionals who have spent years understanding how debilitating such conditions can be.

For those with rare diseases or so rare they remain undiagnosed, often the complexity of the condition means that there is a combination of both physical and non-physical disabilities. This is certainly the case for GG, my amazing and brave daughter.

Of all the challenges we face in supporting GG, the physical ones – are for us – the easier aspects of her disabilities to manage. I am not saying it is easy that GG cannot walk far and still needs to be lifted into her car seat – however, we are able to use her buggy or wheelchair when she needs it. The epilepsy is by far the most terrifying aspect of GG’s condition but fortunately for GG, there is medication to help, professionals to support.

However, on a day to day basis, the challenging behaviours which are the result of a severe learning disability are much more difficult to handle. We cannot remove GG’s anxiety with a physical aid, there are no tactics we have discovered so far that can help her regain control in the middle of a sensory overload, there is no tool for us to use to fill the gaps in her communication which results in frustration, screeching and meltdowns.

I know for many disabled people, the physical aspects of a disability are the biggest challenge but to suggest that a physical disability is ‘really disabled’ whilst the completely debilitating aspects of non-physical disabilities are not is ludicrous. For my daughter GG, and the 6000 children born every year who remain without a diagnosis, the lack of a ‘label’ is highly likely to result in an even higher level of questioning when what we really need is more support.

So who made the decision about who is ‘really disabled’ and what that means? None other than MP George Freeman who previously held responsibility for the UK rare disease strategy….

I was even more shocked when I learnt that the proposer of such changes was none other than MP George Freeman – the previous minister for life sciences with responsibility for rare disease. In a recent ‘All Party Parliamentary Group on Rare and Undiagnosed Conditions’, Mr Freeman outlined the work to implement the UK strategy for rare disease – stating that “nowhere is the challenge more acute or relevant than in rare disease”. More information can be found in this link.
http://www.raredisease.org.uk/news-events/news/rare-disease-day-2016-westminster-reception/

How can a minister who has had first-hand experience of rare and undiagnosed diseases, who has heard directly from families who manage such conditions on a day to day basis, in his next job take such a narrow view of disability as being the physical aspects?

On Rare Disease Day 2017 let’s make our views known to Mr Freeman and let him know that ‘really disabled’ comes in many different forms all of which need appropriate levels of help and support.

You can tweet Mr Freeman using @Freeman_George.

Please also see a further post I have written for Rare Disease Day 2017, published by Scope: 

Dear Mum and Dad of a newly undiagnosed child

MY LEARNING DISABLED CHILD IS NOT A BURDEN ON SOCIETY

 

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On the contrary, GG contributes significantly to the world we live in and genuinely helps to make it a better place. It would be so easy to launch into stories of inspirational Paralympians, people with Downs Syndrome running their own business, or the building evidence of genius’s and talented artists who were likely on the autism spectrum but it is so much simpler.

GG brings immense joy to our lives and to those around her, she enjoys the simple pleasures in life and reminds us what is important. GG is not encumbered by financial concerns or fears of what is happening in this world but revels in the here and now, something we can all learn from. Being able to giggle at the daft things, she keeps alive the best of toddlerhood lurking inside us all.

GG is also completely non-judgemental – she takes people as they come. Racism, ageism, fat-ism, none of this would even occur to her. GG is the only person I know who honestly has no unconscious bias.

Along with most children with disabilities, GG demonstrates a level of bravery that I could certainly only aspire to. I am ashamed to think back to the levels of complaining when I suffered with back issues on and off through my 20s. It wasn’t nice and the physio was not fun. GG does physio every day. Climbing stairs is always hard for her but she does, all the time. Epilepsy is hideous and whilst I am still recovering from the aftermath of a seizure and my reaction, GG picks herself up and carries on with her day. If the rest of the human race was half as resilient as my daughter, this world would be a much better place.

The other fabulous trait that makes me smile all the time, is a complete disregard for materialistic possessions. Don’t get me wrong, GG has many many toys as we feel compelled as parents to surround our children with gawdy plastic items. The truth however is that GG is completely happy with her baby doll, a pram and an apple. Even the tooth fairy brings chocolate to GG. Yes, she will also be entertained by the iPad but it isn’t an important factor in her life, and TV is for wimps who feel the need to sit down!

If the view of ‘contributing to society’ is obtaining a degree, having a distinguished career or excelling as a football player then no, it is unlikely that GG will do any of these things. However, for the majority of people, the important things in life are not achievement or materialistic based. Caring, sharing joy and valuing other people are what matters and GG exhibits these traits more than most.

Despite the huge progress in attitudes to disability and having come a long way from when disabled people were hidden away, it is a sad position that I, and other parents, find ourselves having this debate. However when I have heard so many challenges as to why public money should fund services to disabled children, it cannot be ignored. Early intervention, good education and enablement therapies ensure that disabled people are empowered to contribute to society so let’s fight to continue to make provision better.

 

Delivering a Diagnosis

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For the 6000+ children a year born with an undiagnosed genetic condition, and their families, a long awaited diagnosis can be both a positive and negative experience. Seeking the elusive unifying diagnosis that often ties together a host of conditions, is a long and difficult journey – combining the hope that diagnosis may bring, with the fear of what it may mean.

In recent months, many families have been receiving a diagnosis through their genetics teams – the DDD study, 100,000 genomes and incredible genetics progress is giving more and more families the answers they seek. However the experience of those on the receiving end is varied, sometimes it is handled brilliantly but occasionally the way news is delivered is not ideal.

Examples of this include a letter landing on the doorstep with news of a diagnosis. Imagine waiting 5+ years for answers and to open a letter in the middle of breakfast with what is, to you, monumental news. On occasion, an invite to an unexpected appointment with the genetics team, with no explanation and weeks away, which results in high levels of tension and anticipation. Even attendance at a routine appointment with news delivered out of the blue.

In our case, we received such a letter and called to ask if it was a significant appointment or a routine review. We were told the latter, arrived at the appointment with 2 children in tow only to find that there was indeed ‘big news’ – this was broken to us whilst we fought to keep GG away from the taps given her obsession with water. As it turns out, the diagnosis found was not significant for GG you can read about the ‘Almost Diagnosis’ here:The ‘Almost’ Diagnosis

So, based on our experience and feedback from others in the SWAN world, here are a few pointers to those delivering news of a diagnosis to families:

  • Please pick up the phone! Let us know that something has been found that may or may not be of significance and that we should meet to discuss
  • Offer an appointment in a timely manner so that we are not waiting weeks and months for really important news
  • Ensure you provide as much information as possible about the diagnosis and what it could mean – we will google it anyway, so we value you being honest about the implications
  • Be clear if there are further steps to confirm the diagnosis and what happens next

We know that the science is fascinating to you and the progress in your field is incredible, but for us, this is about our child, our family, being sensitive to the impact such news can have is really critical. We also recognise you are incredibly busy and not best placed to provide post appointment support, but please do point families in the direction of those that can help – some ideas are below.

Finally, thank you from the bottom of our hearts for working so hard to help us find answers. A diagnosis, no matter how rare, is really important to us and our children.

Further support:

If you come across families that might benefit from extra support you can point them in the direction of:

SWAN UK – www.undiagnosed.co.uk

Unique – http://www.rarechromo.co.uk

Rare disease UK – http://www.raredisease.org.uk

IF THIS WERE HAPPENING TO MAINSTREAM KIDS, THERE WOULD BE UPROAR

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Imagine a world where your child does not have their basic needs met at school. You turn up one day and the staff explain, very politely and regrettably, that they cannot do what your child needs today. Would you smile back? Say that’s okay? Leave your child anyway and head off to home / work as normal? This is what the parents of disabled kids are expected to do every day.

Imagine that your child is told to stop communicating. The books are all removed from the library. The next day, there are no pens. You are reassured that the pens will be provided but only once every 6 weeks. The school does not have budget for your child to be able to communicate or learn. Core equipment, an eye gaze which allows children to communicate through eye movements, or an iPad which provides a voice for so many – not funded because there is no money.

Just imagine your child after lunch being told to sit in a corner and not take part in the class. Observe, yes. Take part, no chance. You see, there is only funding for a part time 1-2-1. Even if your child happens to have medical challenges or a lack of safety awareness, well we will take our chances rather than overspend. After all, it’s okay in the morning and that will have to be good enough.

Now, your child’s feet have grown. Clarks is available to you (other shoe shops are available) but not for at least 6 weeks. You have to squeeze your child’s feet into shoes for at least 6 weeks and by the way, you need to attend 3 appointments, all at short notice, in the middle of the day and parking costs £6 a go. Oh and be grateful you don’t have to pay for the shoes.

Imagine that you start work at 8.30am and go to drop your child at breakfast club to be told that it does not exist. Not only that, but there is no childcare at all available around school hours. In the holidays you might be offered 1 day a week – school hours only of course.

Children with different abilities will have (usually after a long fight) either a statement of needs or what is now an Education, Health and Care Plan (EHCP). This outlines the needs of each child and forms a legal requirement for provision. Unfortunately, there are 2 major issues. Firstly, the true needs of a child are rarely properly documented leaving gaps. Secondly, even when the needs are documented, they are not always provided. Parents will fight for the correct provision and as a result are labelled as ‘difficult’ or ‘tiger parents’.

My daughter has an undiagnosed genetic condition – known as a Swan. (Syndromes Without a Name). I have therefore become one of the ‘difficult parents’ who is continuously fighting for the basic needs of my child to be provided. I don’t want to be difficult and neither do others, but we do want to be heard. Britain in 2016 needs to think differently and we need you to help us shout it out.

If you would like to help please feel free to RT to the following people:

@PennyMordauntMP (Minister for the Disabled)

@EHRCChair (Chair of Equalities and Human Rights Commission)

@Sajidjavid (Minister for Local Government and Communities)

@JustineGreening (Minister for Equalities)

 

Blogfest16 and the Swan Bloggers

Last Saturday, I attended the Mumsnet #Blogfest16 – my first experience of such an event and I loved it. A room full of inspirational, world changing and passionate (mostly) women – all of whom are bold and brave in sharing their life experiences online, for the greater good. In describing why I came away so bolstered and enthusiastic, I have given many examples from informative sessions, to truly hilarious stage shows, to a range of fab ideas for how I can be so much better as a blogger.

However, if I am completely honest, the main reason I had a great day, rather than a good day, was the amazing group of Swan bloggers who also attended.

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I have come to think of the Swan bloggers as fabulous virtual friends – I have met some of them once or twice, others I met for the first time in person at Blogfest. Yet I am more honest with this group than many others in my life, and it feels immediately comfortable to be in their presence. I care passionately about what is happening in their lives, I shed tears of sadness and laughter on a regular basis reading their blogs, I truly appreciate their encouragement, honesty and support with my own writing. Being part of a group that is – bit by bit – changing the world for Undiagnosed children is incredibly empowering.

I loved the way that as a group, we were rooting for the amazing Liz with her ‘Are you Kiddingney’ blog to win the best campaigner award. An incredible talent, read more here…..https://areyoukiddingney.wordpress.com/.

I loved the way the group interacted with others – open minded and open hearted. I was proud to be part of a recognised group, with others commenting on how supportive and non judgemental this lovely gang is. I loved the fact that when unable to spot anyone I knew (I am known for my inability to recognise others in large crowds), a fellow Swan blogger spotted me and pointed me back to the herd. Most of all, I loved the fact that I laughed so much, despite tackling some tough topics, this group is so much fun to be with. And, as it turns out, a few of them share my penchant for too much wine….cheers ladies!

To find out more about Swan UK click here….https://www.undiagnosed.org.uk/

To read more Swan UK blogs click here….https://www.undiagnosed.org.uk/news-events/

An ode to #changingplaces #dignity #phantomloos! 

There are less than 1000 #changingplaces in the U.K. despite this being the key barrier to disabled children and adults accessing every day activities. Just imagine not being able to go to the loo in a dignified way when out of the house. This Halloween please share this poem to raise awareness of #phantomloos……

An ode to #changingplaces

Now every parent will tell you of nappy changing horrors,
We empathise and laugh together at the highly amusing stories,
I, too, join in the fun, giggling about poo and wee,
But as ‘Gorgeous Grace’ gets bigger, it has stopped being quite so funny.

So, where haven’t we changed her nappy is probably easiest to start,
Too big for ‘baby changing areas’ – most common place now is the car,
On the grass if the weather is fine, it’s not really dignified,
But the worst by far, the public toilet floor, it leaves you horrified

We don’t have too many choices, unless we stay home all day,
We went to France, had a lovely time, until there was a poo on the ferry,
‘Non, vous cannot use zee medical room’ the toilet floor will have to do,
But it’s filthy, there’s no privacy, I just want to protect you.

The playground, café, supermarket, shops, they all present a challenge,
The soft play area, swimming pool, it really makes me cringe,
For now, GG is not too fussed, just wriggles to make it ‘more fun’ 🙂
But what about later, she’s getting bigger and won’t want people looking at her bum.

The frustrating part is that people don’t want to help, no-one seems to care,
Instead they walk on, avert their eyes or even worse they stare,
It’s not a lot we’re asking for – just a changing place,
The gauntlet laid, the challenge set – who will provide that place?