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.

 

 

Hammering at the door of a Rare Disease

Door

Having an undiagnosed genetic condition sucks. Having a rare disease also sucks. So why are we pursuing that elusive diagnosis that will ultimately be a rare disease?

We are not daft enough to think that after more than 5 years of searching, (including 2.5 years on a ground breaking international genetics research programme), that a diagnosis will provide GG with a known and understood diagnosis. However we continue to seek the rare disease – or even genetic mutation that does not yet link to a known disease. There are many reasons why.

#1 – There is something to write / type into that small box usually called ‘medical condition’. I have tried both ‘unknown’ and ‘undiagnosed genetic condition’, neither of which satisfy the faceless individual assessing GG’s case. However there is not room for ‘3 types of epilepsy, low muscle tone, hypermobility, sever learning disability, squints, misaligned bones, uneven leg length’…..the list goes on.

#2 – We will have an answer to ‘what’s wrong’ / ‘why’ – having an explanation is helpful in social interactions – that would be a start. However way more impactful for us is that a diagnosis will explain why. It is hoped that the ‘why’, will finally remove the never ending soul searching of what did I do wrong? Did I cause this by eating that piece of blue cheese before I knew I was pregnant? Ridiculous? Maybe, but very real.

#3 – We have a chance of understanding if this is a hereditary condition. Not for us I hasten to add, after the arrival of GG’s little brother, we closed that chapter, agreeing that we had rolled the dice one last time and been lucky. However GG has 2 siblings who will no doubt in the future want to consider having a family. Knowing if they carry a hereditary condition will be important.

# 4 – Hope. Pure and simple. A rare disease diagnosis would give us hope that in GG’s lifetime there maybe treatment, even a cure. I know I am getting carried away now, but we cling onto that hope.

Hats off to all those battling with rare diseases, we do not underestimate the challenges you face in finding and accessing the support you need. However we do not wish to remain in the undiagnosed camp and very much hope that one day we will join your ranks. We know we will be welcomed with open arms.

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.