Dear Mrs May….

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Dear Mrs May…..Firstly I would like to extend my congratulations on your appointment as Prime Minister. I am of course aware of the significant challenge you are now facing in leading the UK through the separation process from the EU.

I am contacting you now, to ask that as part of this separation process, that the relatively small –  but very important – rare disease and undiagnosed community are considered.

I am the mother of a child with an undiagnosed genetic condition – one of 6000 unique children  born every year. There are many more diagnosed with rare diseases. The EU has made rare disease a strategic health priority, and its’ influence in this area has been significant.

You may already be aware that the UK is the centre for genetic research for rare diseases and I can only assume that we will lose this status in due course. These genetic research programmes are the hope we have for a future diagnosis –  which is our only chance of a prognosis, potential treatment and maybe prevention in future generations.

There is a high level of anxiety in the disability community, that is amplified in the rare disease and undiagnosed community, as we face the possibility of losing the significant EU investment in this field. For many of our community, we fear there will simply be too few affected patients in the UK to justify the investment required.

The key benefits of the EU focus in this area to date are:

  • Collaboration across borders and critical mass for an otherwise small population
  • Shared skills, resources and information – including access to niche experts across all countries
  • Research funding (otherwise cost prohibitive)
  • Medicine authorisation across the EU (otherwise cost prohibitive)
  • Innovation and knowledge transfer permitted by European Directives
  • Health benefits for those in the rare / undiagnosed community

I appreciate it is too early to begin to understand the full implications of Brexit. However if consideration can be given to protecting some of the critical work in this area, it would be of significant benefit to this community.

I, and many others, sincerely hope that you will give this full and proper consideration.

 

 

An Ode to a Special Dad

He’s the one she calls for, the Daddy she adores,

The one that she runs to, the minute she hears the door,

Daddy is her hero, he makes everything ok,

When he’s home, we’re altogether, she likes it best that way.

It’s not an easy job being Daddy to any child really,

But when they’re extra special, it becomes even more tricky,

The Dad is often the forgotten one, no-one ever thinks to ask…

How are you feeling? Coping? You always maintain your mask.

Behind the scenes you are vital, the one who holds us all together,

You’re the voice of reason, always there when I’m at the end of my tether,

You’re the one who calms us, makes it ok to just be,

But equally the Daddy who will fight every battle for his family.

How many times I catch you, that adoring look in your eyes,

So torn, so incredibly proud – holding back tears, trying not to cry,

Though she can’t quite say ‘Daddy’ – it gets muddled with her ‘blankie’…

It is with you, her hero, that GG is most happy.

LOOKING BACK, LOOKING FORWARD #UNDIAGNOSED

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A year ago, on Undiagnosed Children’s Day 2015, I took my first tentative steps into the world of Twitter Takeover for Swan UK. It was a daunting as a newbie to the world of blogging and Twitter. The overwhelming support on the day resulted in a baptism of fire as #undiagnosed started trending, and the Swan UK feed was impossible to keep up with. It was a fantastic day, knowing that so many people cared, and that we reached so many with the message that #undiagnosed remains a significant issue in the modern medical world.

I continued to blog for a couple of months and through the year, hosted a few more Twitter Takeovers, but found myself struggling to keep publishing despite continuing to write posts on a regular basis. Partly this was down to everyday life. As with all families we have experienced ups and downs, the challenge and joy of 3 young children, with the additional complexities of a child with an undiagnosed genetic condition. Add to this some challenging work situations and I found myself eager to pursue the campaigning but struggling to find a way.

In the autumn, I was thrown off course by the ‘Almost Diagnosis’ (further details in a previous blog The ‘Almost’ Diagnosis) – so close yet so far from finding out the cause of GG’s challenges. Although the ‘almost diagnosis’ is still not ruled out, we are awaiting cardiology and orthoptic reviews, (8 months after referrals were made, grrr) – it remains an unlikely outcome. The ‘Almost Diagnosis’ did however prompt a key question – we know that GG suffers from a rare disease so what difference would a diagnosis make?

I accept that lots of things would not be any different – the constant seizure watch that has me sleeping with one eye open, focused on the video monitor. The addition of another issue to the list – uneven leg length. The myriad of appointments, the challenge of getting into school to meet with teachers and therapists and the increasing behavioural challenges to manage. Please don’t get me started on the battles to get GG into out of school activities – so simple for the majority and yet so hard to find acceptance for GG.

However some things would be different. The lack of diagnosis and associated lack of prognosis means that we did not anticipate a leg length issue, we were not looking for it, a diagnosis may well have told us what to watch for. The knowledge of whether this is a hereditary issue that could affect future generations, that could have opened the door for us to have another. A personal outcome I hope for, would reduce the guilt – I made GG in my body so I will always be responsible, however to put to bed those thoughts which linger in the early hours, was it the blue cheese I ate before I knew I was pregnant? Did I do something else to cause this?

In the past year, the continuous and repetitive assessments for support have continued – we do not fit into a neat box that dictates the support we need. We successfully negotiated our way through the transition from SEN nursery to SEN primary – a journey that was far from seamless. The battle that followed to secure appropriate school transport was another saga. The annual Disability Living Allowance review – often awarded for 5 years to those with a diagnosis – another 42 page form plus appendices. Even down to the box marked ‘medical condition’ to obtain a Queue Assist pass at a theme park. All would be easier if we had a name. As one wise and respected disability lobby group wrote ‘a firm medical diagnosis is hard to ignore’ – and the lack of one creates reason for doubt.

The one upside of no diagnosis is being a part of Swan UK. It is by far the best support group I have been a part of and I have tried a few. 24/7 support from others in the same position, always someone to listen, always someone to celebrate the successes, we are in this together. In the past year, Swan have ensured we are fully informed about the opportunities for diagnosis – incorrect info from professionals that we have been able to challenge – thanks to the knowledge of the staff and other families. We have met with other families, enjoyed an awesome day out together which would not have been possible without Swan UK.

Mostly though, Swan UK has inspired me to try and make a difference. Thanks to a bloggers workshop in the New Year, the collective brains and passion of those in the room gave me the impetus I needed to start a campaign for co-ordinated care. I have no campaign experience, I am a working mum with an incredibly busy home life but determined to try and make a change.

I have recently launch #outofthebox (Out of the Box) to try and improve care for those with #undiagnosed conditions. I have rediscovered my mojo, I have a purpose and I have an amazing support network who give me honest feedback and incredible input.

I will however finish with some positives in the past year, steps that are miniscule to most children but to GG have been significant. Firstly, GG is drinking more, still not enough, but we no longer battle to get tiny amounts of liquid into her. We now have c.80% success with daytime toileting, a phenomenal life skill to achieve. Gross motor skills have progressed well and GG has discovered a love of singing – the most beautiful sound. I have succeeded in finding swimming, horse riding and a Rainbows group that are now welcoming GG with open arms and recognising the contribution she makes to the class. Seeing GG swim independently with a woggle is my memory of the year.

So what next? In the next 12 months our hopes are to discount the ‘Almost Diagnosis’ (all fingers and toes crossed….) and be moved onto the 100,000 genomes project as the next leading research programme. Although likely to be a long lead time, it is the best chance we have of finding a diagnosis. We will battle the transition from ‘statement of educational needs’ to EHCP and we will get the support GG needs. I hope to make an impact with the #outofthebox campaign and influence policy makers to spend their money on care and not repetitive assessments. I plan to investigate therapies to help GG with sensory needs in the hope of helping with behaviours. I may even get brave enough to face the application process for respite care. Mostly I hope to continue to enjoy my fab family, my gorgeous GG and keep everyone as healthy and happy as possible.

Swan UK have provided a lifeline to all we have faced in the past 2 years. We need this group and funding is at a critical junction with some big grants ending. My one request is to help support Swan UK to continue running and supporting the 1000 families already signed up, as well as reaching out to the 1000s of other families battling in isolation.

If you would like to donate to support the work of SWAN UK you can do so via the Just Giving page or our Virgin Money Giving page. You can also donate by texting SWAN11 £3 (or any amount up to £10) to 70070

Happy Undiagnosed Children’s Day 2016!!


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Undiagnosed Childrens Day – An Insight

Picture the scene, at the park, a toddler group, the local children’s centre. Another parent approaches and say’s ‘hi’. They turn to your child and say ‘well hello there, what’s your name’.

GG’s response, – silence and a stare.

They smile, undeterred, and repeat ‘What’s your name?’

‘Me’ responds GG – cautiously.

A chortle and a ‘that’s not your name!’

‘Me’ responds GG – hand on her chest to emphasise her point. Baffled by the strangers response.

The parent looks at me – confused. I try and explain. I might say ‘GG has a few challenges’ or ‘GG has developmental delays’ or ‘Think of GG as a 12 – 18 month old’. The sympathetic looks start, the well meaning ‘Oh she will catch up’ – inevitably followed by some tale of a child they know who had a problem but is ‘fine now’.

Then the question all parents of an undiagnosed child dread: ‘So what’s the diagnosis?’

‘There isn’t one’ – stunned silence. That was unexpected.

‘Oh – so you don’t know what is wrong?’ No, we don’t.

Where do I start? I give it a try.

‘GG has an undiagnosed genetic condition’ – Wow, undiagnosed? Really? In the internet era? Google doesn’t have the answer? ‘No’. Believe me I spent the first 2 years on Google to no avail. Sending a list of conditions to the Geneticist for them to test for.

‘Have you seen a doctor?’ Ha! ‘Has GG had any tests?’ I offer to provide a list of the 13 medical professionals involved in GG’s care. I can’t even begin to list the 100s of conditions that genetics have tested for. A medical conundrum.

So I try something more tangible, ‘GG has 3 types of epilepsy’ – oh right so that has caused her challenges. Um, no. GG also has low muscle tone, hypermobility, misaligned bones, squints, poor pain reception, sensory issues, no sense of danger, severe learning disability. The face drops as the list gets longer.

‘How do you know she has a genetic condition if she is undiagnosed?’ A favourite question of mine. The bottom line is we don’t for sure. However all other known conditions have been ruled out so genetics is the most likely cause. This one at least can create a bit of debate.

‘She’s beautiful / so happy / so smiley / very cute’ – oh yes, GG is and we adore her. Children with disabilities – undiagnosed or otherwise – are just as adorable as other children. Why does that always seem to come as such a shock?

At this point some people politely move away – find another parent they can discuss school choices with and have a relaxed cuppa. I don’t blame you, it is not an easy conversation.

Others bravely probe further. ‘What’s the prognosis?’ We don’t know. ‘Is it hereditary?’ We don’t know. ‘Does GG have a normal life expectancy?’ We hope so but can’t say for sure. ‘Will she need lifelong care?’ Almost certainly. ‘Are her siblings affected?’ No idea. ‘Will her siblings children potentially be affected?’ At this point I well up. The curiosity, the well intentioned questions – all with impossible answers.

Then…..‘Are there others who are undiagnosed or is GG the only one?’ This is the question I like to answer. This one gives a positive slant – I can talk about SWAN – Syndromes Without a Name. My lifeline. The place we finally no longer felt alone. A group of inspiring parents, who have mostly never met, but will do everything within their power to help others in the group. The place I can talk about our fears. The place I can celebrate the small successes that are so important – that other parents cannot begin to understand the significance of. SWAN the font of collective knowledge that taught us so much about the help, support and practical actions we can take.

What do you do about dribble rash? Breastfeeding barrier cream.

Where can we get travel insurance that doesn’t cost as much as the holiday? A list of recommendations within minutes.

Where can I find a changing mat for a 5 year old? Someone offers to post a spare to me.

Invaluable.

Being the parent of a child with disabilities is a shock. Being the parent of a child with an undiagnosed condition is an extra layer of difficulty over the top. GG does not fit into a box. There is no ‘tick here’ for an undiagnosed condition on the many forms we have to complete. The emotional impact of the unknown is considerable. The question that will forever lurk in the corners of my mind – did I do something wrong? Did I cause this?

Undiagnosed children’s day is on Friday 29th April 2016. Please share this blog so that others may start to understand the challenge. Please help us to raise awareness and ultimately provide more support for the 6000 families who every year find themselves in this position.

Keeping the balls in the air?

How do I keep all the balls in the air? The honest answer – I don’t.

Just last week I dropped one. My heart dropped when I saw the number for Footsteps physio pop up on my phone. I knew immediately that I had missed a session, gutted, they are gold dust…..however I am not perfect, I am not supermum. I had contended with a poorly baby, getting 2 girls to 2 schools 30 minutes apart and still managed to get into London for an important work presentation. All on one hour’s sleep….not bad really.

However, dropping balls doesn’t happen all of the time and I haven’t missed anything big – yet. Feedback from a number of professionals leads me to believe that I am reasonably good at managing it all, so if you can bear with the fact that I sound like I am project managing my daughter, I thought I would share some of my tactics.

Now ‘Gorgeous Grace’ has started school, a good chunk of the co-ordination and appointments are managed through school. Physio, OT, SALT and educational activities are all handled within the school day with feedback to home as to how to support the activities. Much better. In the early years however, you are an island managing it all alone with no co-ordination at all. So what did I do?

Firstly I created ‘The Folder of everything’. Over the years it has become several folders. This has been invaluable and I can be frequently seen lugging a bag full of folders to appointments – anyone who believes the NHS systems talk to each other, think again. The times I have been asked for test results, details of examinations etc and I have it all to hand (much to the surprise of the Consultants).

The ‘folder of everything’ includes:
A section for future appointments so that letters are kept together and easily found when arriving at the hospital reception area
A list of all professionals involved and contact details
A list of all tests and results in date order
A section for each consultant e.g. paediatrician, neurologist, genetics, orthopaedics with copies of all letters and notes of any phone call or email correspondence
A seizure log detailing all seizures by date and actions taken
Medication details so I can quickly advise on current medication if needed plus repeat prescription paperwork
Research programme details – for us the ‘Deciphering Development Delay’ study, copies of all communication received and dates of responses from us noted
A section for each other medical area – orthotics (boots prescriptions), eyes, ears etc.
A section for each therapy area – physio, OT, SALT and education psychologist
‘Complementary therapies’ i.e. those sourced privately – details of activities and reports e.g. signing, Riding for the Disabled, Footsteps physio and Snowdrop
Education section with copies of statement, all IEPs and other important documents (now an entire folder on its own)
Transport section (a little empty at the moment, grrr – another blog to follow….)
An advice and support groups section which includes all handouts, contact details and information worth keeping
Wheelchair services details plus manuals for buggy / wheelchair
Disability Living Allowance – another one requiring a folder for itself (always keep a copy of what you send, 2 of 3 have been lost….)
Blue badge (2 applications have been rejected to date but I keep a record anyway for the appeal process as and when I have the energy)

Enough to start with? I think so.

Once I compiled all of this, I then pondered on how it was ever going to be possible to keep
co-ordinating it all and making sure everyone knows what is needed and what we are working on. Fortunate enough to have excellent family and friends, plus a nanny for when I am at work, it was important to keep everyone up to date. The solution? The ‘action plan’.

The first ‘action plan’ was written at the point where so many professionals started to get involved – around the 18 month mark. It comprised of physical, communications and learning activities. Plus key priorities, things to remember and next steps. In one document I summarised what was important right now. We are now on version 12 so a new one roughly every 3 months. Version 11 got to 2.5 pages, version 12 has been narrowed back down to 1 page – much easier to deal with.

The most difficult thing about the ‘action plan’? Prioritisation. I am a mum but I am no expert on what is most important. Advice from up to 12 professionals all to be processed and followed – impossible. I learnt early on to follow my instinct, what is most important right now – Signing? Using the toilet? Actually no – weaning off a baby bottle and getting clear liquids into my daughter takes top priority right now. If we get chance to work on matching games and block building, of course we will, but that can come later.

The ‘action plan’ is shared with everyone involved – family, friends, school, health professionals, therapists. Everyone knows what we are working on. It does not stop other activities taking place but justifiably I can communicate what is most important at the moment. I ask for feedback, I share it with the lead paediatrician and to date have had nothing but positive reinforcement of this approach.

So yes, I wish I didn’t need to have ‘the folder(s) of everything’ or ‘the action plan’. Those evenings I pour myself a glass of wine, update the folders and then pull together the latest plans, I can’t help but feel more like a project manager than a mum. But when I get up the next morning I know everything is in order, the balls are in the air and most importantly it’s the right balls in the air.

The need for co-ordination….

There are so many agencies, that we have to link into,
To get the support that GG needs – it’s more than just a few,
It seems crazy to us parents, of disabled kids,
There is no co-ordination – it gets everyone in a tiz!

So here are a few examples, of how crazy it can get,
Two children, quite similar, whose needs should both be met,
One is given a wheelchair but cannot get a blue badge for parking,
The other has the badge but is refused a chair – it’s just barking!

Then there is another child who is physically a bit more able,
Who receives DLA for mobility at the higher level,
The other who sleeps very little – awake a lot of the night,
Could not get the care element, despite being offered respite…

Then there are the school places, that prove such a fight,
It is so important for our kids, that the school is right,
Catchment areas irrelevant, if your child would be better off elsewhere,
We appeal, complete masses of paperwork and in the main – we get there.

But then comes the issue of transport, how this is treated is bizarre,
The inconsistency in approach, the experiences are dire,
Once a school is in the statement, transport should be there,
But LAs, strapped for cash, will argue it – it’s so unfair.

The lack of resources could fill, several different blogs,
We know the world we live in, but it makes it such a slog,
Please think about the consequences, of not providing support,
Many more claiming benefits, more parents out of work.

At every stage we battle, and appeal the crazy decisions,
That agencies decide upon, in total independence,
Our plea is for co-ordination, a central point to go,
To someone who can advise us, someone in the know.

More often than not as parents, we don’t know what is there,
Don’t know what to apply for, and miss out on our child’s share,
A point of co-ordination, would ensure this didn’t happen,
And cut down on costs from undoing the mad decisions.

As some of you will know – if you are a regular follower,
Gorgeous Grace has no diagnosis, and this adds extra bother,
No box to tick, no package offered, at times it is rough,
Please listen to us, help us out, and make it all less tough.

A meteoric rise in ability!

We joined the Snowdrop programme about 5 months ago,
Whether it would work, we really didn’t know,
It really is quite different – nothing like the rest,
But we will try anything for GG, so gave it our best.

The first 2 weeks were difficult, we found it all quite hard,
Fitting in 2 new hours of therapy was quite a task,
On top of the other therapies, it seemed almost impossible,
But gradually we built it in – GG’s schedule was so full…

Gorgeous Grace enjoyed some activities – they even made her laugh,
But lots of it she didn’t like, for GG it was tough,
We were determined to keep it up, despite the many tears,
We were not sure it was the right thing but so glad we persevered.

To fit it in, 2 hours a day, we had to be organised,
Everyone needed to be involved so a schedule I devised,
School proved to be very supportive and some of the programme they do,
No professionals objected as long as we did their stuff too.

Some days were tough, no question, a challenge to fit it in,
Some days it didn’t happen – but no point getting in a spin,
Start again the next day, it’s all about repetition,
We started to see improvements so had no hesitation.

The day that GG started doing Snowdrop activities with her doll,
The day that she walked backwards with no help at all,
These days made it all worthwhile – we were getting somewhere,
Until she tried it on baby brother, that proved a step too far!

The Snowdrop families are lovely, and have proved a great support,
Andrew who runs the programme builds a great rapport,
Every day he is available providing advice and motivation,
Wife Janet is also great – they are a good combination.

So 5 months on, it was time to head for GG’s reassessment,
Nervous and excited, on our second trip to Devon,
By the time we had finished, the nervousness felt silly,
The conclusion was positive – a meteoric rise in ability.

So programme 2 is underway – focusing on what comes next,
Learning things we thought impossible, is our new test,
For GG it’s a no-brainer, the results have been impressive,
And for us as her parents, we focus on the hope it gives.

There are lots of arguments about trying to do too much,
But no-one tells you what is right – there’s no proven recipe as such,
There is no doubt for us though – we are absolutely certain,
Of all her therapies, none works alone – the success is the combination.

The drinking challenge and not the one I expected!

When you have a child, you would never think,
One of the big battles, will be getting her to drink,
But that is what has happened and how it has been,
The challenge to get her to drink we could not have foreseen

With so many issues, in so many different ways,
Why ‘Gorgeous Grace’ would not drink, we could not say why,
But she clung onto her baby bottle, full of yummy formula,
Changing it, giving something new, was nothing short of a trauma

Health professionals always say ‘milk is considered food not drink….
She must take clear liquids – that is what we think….’
But we have tried, how do we do it? we’re all out of ideas,
New bottles and cups, new flavours to sup – it all ended in tears

A gently, gently plan we devised, the way we took it forward,
Half an ounce at a time we moved to cows milk from formula,
It took several months to get there, but get there we did,
Step one had worked, it had turned out to be a good tactic!

Step two was to gradually add water, little by little, to the milk,
Add too much at once and over us it would be spilt!
Perseverance every day, it finally paid off,
Half and half milk and water, it’s a step forward, we are chuffed

School have helped enormously, they put in a lot of effort,
Every day trying something new, even experimenting with temperature,
And now ‘Gorgeous Grace’ will even drink from a normal cup,
Blackcurrant or lemon, not too cold, from a cup she will sup

The impact has been significant – a lot less constipation,
And even more impressively – an improvement in concentration,
These steps an average child will just take in their stride,
For ‘Gorgeous Grace’ it’s a huge achievement that fills us with pride.

Being undiagnosed….

Being undiagnosed, we didn’t expect, to be honest it was quite a shock,

Whenever you tell other people, they give you a puzzled look,

Medical science does not know it all, even in the 21st century,

Despite best efforts and lots of tests, Gorgeous Grace remains a mystery

Not knowing what caused GG’s condition, creates a number of problems,

Firstly, people don’t always believe you, at times we have been shunned,

Every parent of a disabled child, fights every step of the way,

But with no label, no box to tick, it’s tougher than I can say.

Even medical professionals have said, ‘come back when you know what’s wrong’,

How I wish for GG’s sake, we could wave that magic wand,

An undiagnosed genetic condition is the most we think we know,

A better description, more information, we wish we had to show.

‘What difference does it make?’ many people may ask,

The challenging forms and explanations, already a monumental task,

Get even bigger, even worse, without a medical diagnosis,

School applications, equipment requests, travel insurance and the rest.

For Gorgeous Grace we try to focus on what we think will assist,

Not really knowing, but still pursuing that elusive diagnosis,

The decision to have another child was so hard to make,

No tests, no known cause, it was a brave step to take

We looked at all available info and were told the risk was small,

And when at last new baby arrived just fine, it was worth it all,

But ‘stress’ does not begin to describe the 9 months of pregnancy,

The extra scans, so many scares, but a healthy boy is he.

The worst has been when people questioned if there was really something wrong,

As if, as her mum, I would make it up, sing such an unhappy song,

There is enough to deal with, without other peoples doubt,

Head held high, take deep breaths, and if we need to we will shout!

The guilt we carry every day, despite following all guidance to the letter,

The fact I didn’t drink, eat blue cheese whilst pregnant, doesn’t matter,

We didn’t drop her, no accidents, nothing – not the slightest bang,

But it doesn’t stop the guilt and constant wondering, what did we do wrong?

One day in passing another mum mentioned a support group called SWAN,

Syndromes without a name, I thought – oh, it’s just another one,

How wrong I was, I could never have guessed, how important they would become to me,

An amazing group, all in the same boat, the fabulous SWAN family.

What matters now, what we want to know, is what the future will bring,

For Gorgeous Grace we want to do our best, to plan and organise everything,

No matter what, a name, label or not, we hope things will become clearer,

Genetic research, identifying unique conditions, every day brings us nearer

A diagnosis would mean a lot, it would be just amazing,

Most importantly, we might find a cure, that’s what we keep hoping,

To help GG, to take away the challenges and strife,

To give us an idea of the future, the possibilities for her life.