The Forever Fear #Epilepsy

I doubt there is a parent out there who doesn’t recall the fear associated with the first year of their baby’s life, due to the heightened risk of cot death. The sense of relief at the first birthday party you are secretly rejoicing in the significantly reduced risk of this terrifying prospect. I recall it vividly with my eldest.

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A little known, or publicised, fact is that for those with epilepsy the risk is ongoing. According to the Lullaby Trust, 0.27 babies in 1000 are affected by cot death compared with 1 person in every 1000 people with epilepsy, who are affected by SUDEP – Sudden Death in Epilepsy. SUDEP is often unexplained and it is a devastating and complete shock for the families affected. (More info can be found at http://www.sudep.org).

GG is now 7 and this fear haunts us daily. Diagnosed with epilepsy at 2 years old, GG has tonic clonic seizures, which historically have been the most dangerous although thankfully, the least common. GG also has absence seizures which affect her day to day and sleep seizures which happen several times a week as she sleeps, often several times a night.

We take every precaution possible. GG is medicated, she is on a video monitor overnight that is inches from my nose and that I check at regular intervals through the night. We have a bed mat – not dissimilar to those used by parents in the first year of a child’s life, that is designed to detect seizure activity. We do not 100% trust the mat it, however we do like the back up.

During the day, GG is never out of the sight of an adult armed with emergency medication, in case of a seizure. Fortunately, the need to intervene has become less and less common, as we have tested and improved the balance of medication. GG is able to live a full and active lifestyle – she embraces each day with a huge smile and a belly full of laughs.

GGs epilepsy is part of a wider, undiagnosed, genetic condition. GG is known as a Swan (Syndromes without a name). GG also has a severe learning disability, hypermobility, low tone, squints and the list goes on. Of all of these conditions, it is the epilepsy which is by far the most concerning. We are fortunate that medication has significantly reduced the tonic clonic seizures,  and although day to day management of the challenges associated with learning disability have become more impactful, it is the epilepsy that keeps me awake at night.

Before GG I would have wrongly assumed that there would be help for families in this position. I would have assumed that pediatricians and neurologists would have been helping families to understand and manage the risk of epilepsy and SUDEP. I imagined a world where parents would access overnight support so that, just occasionally, they might sleep without needing to have one eye on a monitor. In reality none of this is the case and we, like many parents, are left to handle this alone.

We certainly hope that GGs epilepsy remains stable in the coming years. We are well aware that all can change with the onset of puberty and we will cross that bridge when we get to it. However we live with the ongoing fear of SUDEP as do so many people with epilepsy and their families. It is clear that SUDEP needs to be discussed, awareness must be raised and an open dialogue held between medical professionals and their patients. Much more research needs to be done to understand the causes, reduce the risk and ultimately aim to prevent SUDEP and its’ devastating impact.

My Crossroads as a Parent Carer #IWD2018

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I am at a crossroads and my day of decision making ironically falls on International Women’s Day 2018. The gap between pay and opportunity for women is well documented, however there is little profile given to the additional impact of caring responsibilities – which statistically falls more to women than to men.

As a Mum, it is a challenge to balance career ambitions with home life – this becomes much harder when one or more of your children has disabilities. It seems to be expected, as Mum to a disabled child, that you don’t work. We are at the beck and call of professionals who inevitably work 9-5pm and need us to be available to them. The paperwork and diary management required is a full-time job. Most importantly GG needs me at home, more than the other two and this is becoming more evident as they grow older – two are becoming less dependent as one is becoming more so.

My employers have been very supportive of me – I have worked for them for more than a decade so they knew the pre-mum version of me. I continued to work at pace after GGs older sister was born and even went back full time after GG, although it didn’t last very long. After GGs younger brother was born I settled on 4 days a week and am incredibly fortunate to have been offered support and flexibility (in return for a lot of hard work), which has allowed me to be one of a rare breed – a Mum with a disabled child who has continued to progress my career.

However, the next logical step is the big one. The next role is the one that I have dreamt of since the start and it is – professionally – within my grasp. From a home life perspective it is a very different picture. I am at a crossroads.

In the last 12 months, we have moved 200 miles for a different lifestyle. I have continued to work in a demanding high profile role – in fact, I have been covering 2 challenging roles whilst (in theory) working 3 days a week. I have however been at home more. I have been there for more of the school runs, the after-school activities, attended the assemblies and school plays. I have travelled a lot, been away more than I have enjoyed, and GG has struggled with that (despite my fabulous parents covering in my absence).

Here is the crux of the issue. I haven’t quite given up on the ‘ambitious me’ that wants the top job. I am genuinely not money motivated, but I love what I do and know that I make a positive difference. I have worked really hard to get this far and it is so hard to walk away from it. However, the ‘home me’ knows that it is not the right decision for me or the family. I need a career that I can still enjoy but balance with the extra high needs of my family.

I cannot help but ponder how this could be different though. The constant battle to get what GG needs is all consuming. In a theoretical world, where there was a co-ordinated approach to provision for a child with additional needs, the burden on the parent carer would be so much less. In the first two months of this year alone we have battled through a social care assessment, we continue to fight for the right provision in GGs EHCP (Education, Health and Care Plan) and applied for and then (successfully) appealed for a blue badge.

In a co-ordinated world, I wouldn’t have had to spend hours justifying GGs needs over and over to different professionals. The provision could be based on one core assessment leaving us to focus on meeting GGs needs elsewhere. We have also attended 5 hospital appointments – one of which was a day admission – and completed a significant medication change. All of this comes on top of managing a child who has much greater needs at home which we just absorb into our lives.

I will not give up on my career – it is too important to me. I have plans and aspirations and slowly I am starting to let go of my previous dreams – to replace them with new ones. GG brings immense joy to me, my family and a lot of other people, so I will be focusing my skills on making the world a better place for all those who are disadvantaged – and helping the rest of the world to see how beautiful it can be. The holy grail of an inclusive society.

I do still want to scream from the rooftops about it not being fair but I know it won’t actually help. Instead I will focus my efforts on trying to get the voice of parent carers heard among the millions shouting for equality on International Women’s Day.

My Obsession with the Postman #Raredisease

Our postman is a lovely chap and he has absolutely no idea of the impact of his daily visit to our house. Our postbox is around the front of the house so I don’t have the luxury of hearing the letter box clang shut – instead I watch out for the little red van, feeling a little like an extra in an episode of Postman Pat, and shooting out to empty the box as soon as I can.

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So why is this poor innocent postman the subject of such attention? Is he a Royal Mail version of Hugh Grant? Not quite. However he is the one who could at any time, deliver us the news we have been waiting 7 long years for – the prospect of a diagnosis for GG.

As some of you may know from previous blogs, GG remains undiagnosed and this means that she has an ultra rare disease. So rare, that it has yet to be identified. Current genetic science has been unable to pinpoint the problem, and this is the case for more than 6000 children born every year.

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However this is a rapidly changing picture as genetic research is moving at pace. GG has already completed a genetic research programme looking at exome sequencing which did not give us any answers. We have been on the 100,000 genome programme for almost 3 years and have watched with both envy and trepidation as many of our fellow Swan (Syndrome Without a Name) members have recently received the most anticipated letter through the door. The letter that say’s a result has been found. The letter that opens up a route for further information, possibly meeting others with the same genetic mutation, maybe even new treatment options.

There are many reasons why a diagnosis would be warmly welcomed for GG. Just last week in an appeal meeting to obtain a blue badge, the assessor stated ‘it’s so tricky without a diagnosis to capture all of GG’s needs on the form’ – from a practical point of view a label makes life much easier and services more accessible. There is no healthcare pathway for undiagnosed conditions and we never know what to expect as we have no prognosis. There is the lingering as I continue to wonder if I did something wrong which caused GG’s challenges. Knowing whether GG’s condition is hereditary will become important to her siblings. The list goes on.

On Rare Disease Day 2018 we had hoped to be joining with the diagnosed rare disease community in promoting awareness and extending support to others in a similar position. Instead, we will continue to rush to the post box as soon as the van pulls off, in the hope that it will be our turn soon.

GG’s Favourite Book

 

To be honest, this could be a picture of any Peppa Pig book. This one is a favourite as it has the sound effects, and GG particularly enjoys Grandpa Pigs snoring. We read every day and mostly GG engages but I do wish she would extend her repertoire! One of my favourite parts of the day is a bathed GG, having snuggles and a story before bed.

10 Things you didn’t know about….Challenging Behaviour

  1. Challenging behaviour is very common amongst children with learning disabilities however it is often difficult for families to talk about it – almost a taboo
  2. Challenging behaviour is usually triggered by anxiety or over-kids-1268694_960_720stimulation caused to the child and this is their way of dealing with it / communicating
  3. It is hard to understand what is causing the anxiety as when upset the child is unlikely to be able to communicate, and it is often not easy to identify the triggers
  4. Children often hold in the challenging behaviours at school resulting in an explosion once they reach home and a safe place to express themselves
  5. Using the usual approaches to challenging behaviours with a child with a learning disability has limited to no impact – telling them off, the naughty step, timeout all tend to add rather than help the situation
  6. Often parents of children with challenging behaviour are left trying to comfort a distraught child with little idea of how to help them
  7. Professionals are often dubious about the challenging behaviour described to them as the child rarely displays the behaviour in their presence
  8. Providing video evidence is heart breaking – a dreadful position to have to film your child whilst in a distressed state in order to show others what they are dealing with
  9. It is absolutely exhausting – emotionally and physically – leaving parents, siblings and other family members with little energy to face the challenges of the day
  10. The support for those with children with challenging behaviours is very limited, especially for pre-teens leaving parents and families unsupported and isolated.

 

 

Ten things you didn’t know about….Being Undiagnosed

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  1. It is surprisingly common with c.6000 children born every year with no underlying identified diagnosis – most of whom will have a genetic disorder of some description
  2. This number will drop as the amazing progress in genetics advances with many of us enrolled on studies such as the Deciphering Development Delay or 100,000 Genomes projects
  3. However a diagnosis for GG would now be so rare that it will likely have little meaning in the short term in terms of giving a prognosis
  4. Despite the volumes of undiagnosed children – as high as 100,000 in the UK alone – many professionals are still unaware that this is an issue
  5. In the early years we are often grouped under a generic ‘Global Development Delay’ catch up – even we thought this was a diagnosis to start with but in fact it turns out to be a name given to those with no other label
  6. It is incredibly isolating being the parent of a disabled child, being the parent of a disabled child minus a diagnosis can be even more lonely
  7. We can fall between the cracks – no diagnosis means no pathway and therefore services can be hugely disconnected and difficult to navigate
  8. There is never enough room on the vast array of forms to complete the section titled ‘medical condition’ – our unique array of medical and developmental issues will often fill a page not just a small box
  9. No diagnosis means no prognosis which means no limitations on what our children can achieve – medical professionals will offer a view but our children are fabulously expert in proving them wrong!
  10. We do have our own support network – Swan UK (Syndromes without a name) which for most of us becomes like an extended family, a safe place to go (virtually) and usually someone will have been where you are.

 

 

The Name Behind the Blog

The World of Gorgeous Grace came about after I was writing for myself, finding it therapeutic but feeling like I wasn’t making a difference to the challenges we faced. I wanted to share our experiences and educate others, especially around being undiagnosed and the additional issues that this presented (More info on this can be found here:https://theworldofgorgeousgrace.com/2016/04/27/welcome-to-no-mans-land-undiagnosed/)

However, I wasn’t (and still am not) comfortable with sharing details of my daughter and our family with the wider world. A personal decision, but instinctively it has never felt right. Inevitably this made choosing a name a little more challenging.

Grace is a name that has always been special to me – my Grandma was known, although not registered, as Grace and I love the meaning of the word – wanting my blog to reflect that we try and take everything in the most positive way. My daughter is of course 100% gorgeous, her smile, the way her eyes light up, her giggle – everyone who meets her has described her as adorable or gorgeous – ‘Adorable Grace’ didn’t have quite the same ring to it as ‘Gorgeous Grace’ and therein the blog name was born.

Originally everything I wrote was rhyming – this was never intentional but just how my thoughts formed in the early days. I suspect a result of the amount of made up rhymes I sang to both GG and her younger brother – as much to keep me calm as them. Here’s the first blog I published as an example: https://theworldofgorgeousgrace.com/2014/10/08/introducing-gorgeous-grace-or-gg-for-short/. The blog has evolved since then and the topics I cover within the SEND world are varied.

I have had moments of questioning the name choice. I do challenge the anonymity decision from time to time – it makes Instagram and visuals quite tough, I have almost outed us by careless blogging at times (!) and I do worry people think I am hiding behind anonymity. However it still feels like the right decision and doesn’t seem to stop people from engaging with the blog. I have had a few inappropriate questions – sadly in our society the use of a woman’s name and the word ‘gorgeous’ can attract a certain clientele….these are fortunately few and far between, and have provided a little bit of humour, along the way.

The World of Gorgeous Grace has become part of my life now and I hope it will continue to be for many years to come. Many thanks to all those who have supported me to get this far.

 

THIS is how to do inclusion!

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It is just a few weeks since we made the big move, a daunting 200 miles from all that was familiar in pursuit of a better life for our family. GG was at the heart of our house search, having identified a fantastic new special needs school for her but we also found ourselves in a community where inclusion is the norm.

At risk of harping on about how many battles we had in our previous area – a year to have GG accepted into a Rainbows group, the 3 lots of swimming lessons were trialled before we found one that works, a 9 month wait for an appointment with the incontinence team to be told GG didn’t qualify, a transport battle that will go down in our family history as one of the worst , the list is endless.

Within just 3 weeks here, we have been able to establish a fantastic set up.

THE ALL IMPORTANT SOCIAL ACTIVITIES:

One email to the (Council run) leisure centre before we arrived and a swimming teacher stepped up to give GG 1-2-1 lessons. The trial lesson went swimmingly (pardon the pun!) and GG, who has a talent for swimming, absolutely loved it. An email to the local Brownies group and steps are in place to ensure GG can attend from September (our choice of date) with 1-2-1 support. An application to start horse riding lessons is also underway with a centre that hosts regular disability competitions.

I was however not expecting the amazing inclusive sports network here. On a weekly basis there are two accessible sports sessions at the local leisure centre that focus on allowing families to access a fun sports session together. There is an inclusive dance day this week, and a disability competitive swimming group for when GG reaches 10.

Our fabulous girl has the opportunity to access as many activities as her siblings, including some where we can all participate; this will without doubt transform our family social life.

 THE POWER OF A GREAT SCHOOL NURSE:

A school nurse assessment was needed to establish a healthcare plan for both school and transport. The nurse visited us at home, within the first week. The primary purpose of the visit was the healthcare plan however we also in that session organised a referral to a specialist dentist (requested but never managed before), the delivery of continence products, an introduction to the local carer forum and hordes of advice on local disability friendly organisations and groups. The nurse, without me asking, also then spoke to the GP to expedite the list of 13 referrals needed to NHS services. I was blown away!

TRANSPORT THAT HAD ME IN TEARS…..OF HAPPINESS:

Tears over a little white bus….rock on, the life of a SN parent! The day after we moved (as soon as we had a postcode), we received a pro-active call from the transport team to assess GG’s needs. A collaborative discussion about appropriate transport for GG was held, the paperwork was completed and signed off within a week and just 2 days after that, we were contacted to say transport was agreed and given contact details.

It was half term and the fabulous driver took the time to come and visit GG, he bought the bus (dedicated to SN transport so no conflict with airport runs this time), and spent time getting to know our gorgeous girl and letting her choose where she would sit. I won’t say I wasn’t nervous on day 1 of pick up, it is a big deal to hand your child over to relative strangers, however I was as comfortable as I could have been. I did follow on in my car just in case GG was upset but there was no need, GG full of smiles went into school holding the drivers hand and hardly glanced at me. Just brilliant.

TRUE INCLUSION AT A SEN SCHOOL:

A call on day 5 at school from the headteacher confirmed my view that we have 100% made the right decision for GG. We are still in the throes of piles of admin and a learning curve for both sides around GG, her needs and how the system here works. However in the midst of this I had a call to explain just how delighted school are with how GG has integrated in her first week. There was nothing but good news about how GG has settled so quickly, how she is building friendships in her classroom and pro-actively seeking out her peers to inter-act. It would have been so easy to focus on the lack of toileting success or GG’s lack of understanding of appropriate play at times but no, the leader of the school called me to say that GG is already an asset in her class and they are pleased she has joined the school. That for me, is a truly inclusive approach.

IT IS EARLY DAYS….

…however we have nothing but positive experiences so far. The local community is so welcoming, there is huge support for the SEN school, local sensory centre and inclusive sports groups. More than anything else though has been the acceptance of GG when we are out and about, from the screeching to compete with the parrots at the garden centre, to her deciding to grab the hand of a lovely lady walking through town, the responses have been so supportive. Long may this honeymoon period continue.

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.