Dear Mrs May….

EU pic

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.

 

 

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.

Trick or treat? Witches and fireworks.

For Gorgeous Grace’s big sister, this time of year is full of excitement,
Halloween then bonfire night, a week of non-stop merriment,
Dressing up for trick or treating, knocking on doors with her friends,
Going to the bonfire and fireworks, like most kids – she doesn’t want it to end.

But once again we are reminded of how different it is for Gorgeous Grace,
How much she can miss out on the fun and games, unlike the rest,
In comparison with the other kids, she just cannot understand,
What all the fuss is about – from the sparklers to witches wands.

We make every effort to involve GG, but need to be careful it is not overwhelming,
Too much at once, too much noise and excitement and she will need calming,
But this year for the first time, she did go out to trick or treat,
Dressed as a little werewolf, our gorgeous girl was wary walking down our street.

She did it! She knocked on doors and gave a little ‘growl’,
Far more cute than scary was our little werewolf on the prowl,
Of course GG could not keep up, as after sweets the others chased,
But she took part, at her own pace with a smile upon her face.

Bonfire night however is definitely too much to chance,
Non stop fireworks, way too loud, that start more than a week in advance,
Bang, bang and bang, they go and have GG jumping out of her skin,
Unexpected, oh so scary, they maybe pretty, but make such a din.

GG is not alone in this respect as became evident,
When we tried to book onto the ‘quiet bonfire’, it sounded like a great event,
Especially set up for those with additional needs to share in some of the fun,
Weeks in advance, it was oversubscribed, no room to let us in.

So instead, one of us wraps up warm and heads out on Guy Fawkes night,
GG’s big sister in tow, all excited, enjoying the spectacular sight,
The other stays at home to comfort GG, to keep her warm and safe,
Big sister asks, once again, ‘why can’t we go as a family like all my mates?’

So, when you consider having a fireworks party and inviting round a crowd,
Spare a thought, not just for the pets, but for many others for whom it is too loud,
Don’t get me wrong, we want to have fun, our spirits it does lift!
But hear our plea, don’t have fireworks fortnight, please stick to just the 5th.

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.

Being big sister to Gorgeous Grace

She used to call you Doo Doo so that’s what you answered to,
Now she has named you Doo Dah and still calls you that – so far!
You are the precious big sister, the one that she admires,
She wants to be just like you, she copies you (or at least she tries…)

The two of you, heads together, you play so beautifully,
The hours and hours of fun and games, it makes us smile to see,
The times that you make GG giggle – roll around in glee,
The cuddles that you give her, make her happy – that’s easy to see.

The times she’s angry or tired and pushes, hits and kicks,
We see the confusion in your face, we know it’s hard to take,
But you understand that GG’s different and cannot help herself,
You forgive, you forget and say ‘Oh Grace’ with a smile on your face.

When GG is sad or poorly, you know exactly what to do,
No-one needs to ask – you find blankie, do we remember to say thank you?
You worry when she’s flappy and every time there is a hospital visit,
You put GG first every time, we’ve never seen you hesitate.

Big sister, you are amazing, you are so constantly kind,
You stand up for your GG, a better sister she could not find,
Your patience and your empathy – it’s an incredible mix,
Who would have guessed, no-one could know, that you are only 6.