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.


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

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


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.


fruit-3074848__340There are a plethora of memes across Facebook at the moment depicting the idyllic view of a snowday, families building a snowman, having a snowball fight and sledging making for a day full of fun. For most people, the reality is very different and it certainly has been for us.

Our children have very different reactions to news of a snowday. Once our eldest had been reassured that she would not be missing out on swimming at school, the prospect of a day or two at home was celebrated. As for our youngest, he was outside building a snowman before he had swallowed the last mouthful of porridge!

For GG it was a much more stressful experience. We had talked about snow and not being able to go to school but GG works in certainties. Routines are very important to GG and being told suddenly, midweek, that the normal school routine was disrupted was a tough message and it took a good hour of constant questions for GG to understand that she was not going to school.

Despite the bitter winds, the other two braved the outdoors for a good part of the morning. GG all wrapped up, lasted less than 5 minutes – it is hard enough walking through snow, so being unsteady on your feet makes it almost impossible. However, GG has thoroughly enjoyed watching our 6 month old puppies bounding around like lambs, and loves helping to dry them off when they finally decide to come back in.

winter-1861704_960_720 snow.jpg

For most kids, one of the positives is being allowed to watch TV or a film – particularly if like us, there are two parents trying to work from home! GG has never engaged with TV except for the odd episode of Mr Tumble. For GG, the iPad is her time out as she watches snatches of YouTube videos of babies and toddlers. Her current obsession is watching birthday parties for 1-3 year olds and she happily joins in a chorus of ‘Happy birthday’! The iPad has been GG’s saviour for the past two days.

The toughest part for GG is not knowing what will happen tomorrow. The continual ‘where me go tomorrow’ is part of our everyday. Even when the answer is certain and welcomed – for example, a clear answer of ‘GG go school tomorrow’ – GG asks over and over the same thing. Options are not helpful for GG so an answer of ‘maybe school or maybe stay home if more snow’ is anxiety inducing. We have tried hard to reassure her as we cannot give a definite answer – even putting out two lots of clothes ready for morning, to demonstrate the point.

We have had a few lovely moments today with a game of boccia (a type of sitting down indoor bowls), all 3 kids trying to peel mushrooms for dinner was a rather wonderful / stressful 10 minutes and there have been snippets of sibling harmony when all of the sofa cushions were used to build a DIY soft play! However overall, GG has had a much tougher couple of days than her siblings and this is something we need to try and improve on in the future.

I have taken lots of photos of our house and garden in the snow. Some pictures of the kids over the past two days so that in the future I can build a social story based on a real life example that will hopefully help us to prepare GG for future snow days.

In the meantime we will keep our fingers crossed that the snow stops, the wind dies down and GG can return to her normal routine ASAP.

Note: #LivingwithLD is a blog series about living with a daughter with a severe learning disability as part of an undiagnosed genetic condition. The series focuses on raising awareness of the challenges and joys of living in a household which embraces learning disability.


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.


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.


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.

#LivingwithLD – Living Our Lives on Replay


This is the first in a planned series of blogs #LivingwithLD about life with a daughter with a severe learning disability, which is part of an undiagnosed genetic condition. The series focuses on raising awareness of the challenges and joys of living in a household which embraces learning disability.

Living Our Lives on Replay

A typical morning in our household starts with GG before she has even been helped out of her sleeping bag asking….

GG – ‘Me school today’

Me – ‘Yes, GG school today’

GG – (Signing Monday / general hand flapping) – ‘Monday, me go school’

Me – ‘Yes GG, it’s Monday and you are going to school’

GG – ‘Daddy! Me go school today’ (Imagine high pitched, excited, squeaky voice)

GG’s Dad – ‘Yes GG, it’s school today’

GG – ‘Daddy, Monday, me go school’

GG’s Dad – ‘Yes, it is Monday so you will go to school’

GG – ‘Me dressed’

Me – ‘Yes, it is time to get dressed’

GG – ‘Me get dressed, me dinner (breakfast in GG’s world)

Me – ‘Yes, let’s get dressed and go for breakfast’

GG – ‘Me breakfast, me clean teeth’

Me – ‘Yes after breakfast, we will clean your teeth’

GG – ‘Me teeth, me hair’

Me – ‘Yes, after your teeth we will brush your hair’

GG – ‘Me hair, me iPad’

Me – ‘Of course you can have your iPad while I brush your hair’

GG – ‘Me iPad, Daddy me shoes’

Me – ‘Daddy will help you put your shoes on’

GG – ‘Me shoes, me coat’

Me – ‘After shoes we will help you get your coat on’

GG – ‘Me coat, me white bus’

Me – ‘That’s right, the white bus will come for you – shall we get dressed now’

GG – ‘Me dressed, me dinner’ AND REPEAT! REPEAT! REPEAT!

This constant running through of the morning will happen 20+ times every morning – over and over for more than an hour, only pausing when she has her beloved iPad and baby videos to watch. No-one else can get a word in and we have become skilled at conducting this never-ending conversation, whilst also chatting to / giving the usual morning routine instructions to GG’s siblings.

However, we know that not listening or replying will fuel GG’s anxiety and this repetition is part of her coping strategy. She needs to know what is coming next and needs almost continual reassurance of what to expect. We have tried ‘now and next’ boards, distraction and pre-empting the run through by talking it through first, but nothing seems to provide the same level of comfort as GG verbalising it for herself.

In the early days when classed as ‘developmentally delayed’ and the future was so uncertain, we would have been absolutely thrilled to glimpse a future in which GG could communicate. GGs speech is still unclear and to those who do not know her well, you would not understand all that she is trying to say but we know, we hear it over and over again.

We will always celebrate GG’s communication abilities and be forever grateful that she has developed these skills, but living our lives on replay does at times test our patience to the max. #livingwithLD.


blue badge pic

There has been a great deal of discussion over the past week around the consultation on blue badge provision for those with hidden disabilities. This is very topical for us as we are currently appealing the decision to not award a renewal of GG’s blue badge. I resisted the temptation to immediately jump into the discussion and instead opted to track how and why the blue badge is important for GG.

GG does have physical disabilities including low tone, hypermobility, a discrepancy in leg length and some dodgy bone alignments, although she is mobile and can walk short distances. GG does need help to get into the car and be safely strapped in. However the need for a blue badge is driven equally as much by her hidden disabilities – as I hope to explain by giving you an overview of the past week.

Thursday after school: GG arrived home from school and was having a tough day. We immediately needed to jump into the car to collect big sister from her after school club. I carried GG to the car and lifted her into the car seat (all 24kg!) and gave GG her blankie and an apple for comfort. We drove to school to find the blue badge space occupied by a non blue badge user. I parked further away – knowing that getting GG and her younger brother out of the car to go and collect her sister would be even more stressful. Instead I dashed over and asked another Mum to send big sister over to me, which she kindly did. Had I been able to access the blue badge space, I would have been directly outside for big sister and would not have had to leave GG unattended whilst distressed (even for the shortest of times).

Saturday morning: We attended a session for children with special needs at a Children’s Centre. The blue badge spaces are c. 200m from the door to the centre. GG was doing okay so, with support, I helped her out of the car and we walked round. GG had a lovely time but unfortunately hates leaving, she refused point blank to walk back to the car. I left her and younger brother with a member of staff whilst I ran to get GG’s specialist buggy which I loaded her into, and then transferred her to the car. In a normal parking space this would result in a number of issues – not being able to wheel GG’s buggy to the car door so I would have to carry her from the rear of the car, and also not being able to open the door wide enough to lift GG in.

Saturday afternoon: We stopped for lunch at a garden centre. Unfortunately they had no mashed potato which is GG’s staple diet when we are out. This resulted in a lot of distress for GG and despite having walked in quite happily, I had to carry her back to the car. Without the blue badge I would have had to carry her much further and also relied on big sister to make sure her younger brother was safe across the car park. GG was not co-operating so getting her into her car seat was a battle and without the extra space at the sides would have been impossible. Even had GG walked she has very limited safety awareness so my attention has to be 100% on keeping her safe in a car park.

Sunday afternoon: Younger brother had a party at soft play. GG was really tired and so I used the buggy to transport her in and out of the session. She sat playing with the babies, only going up to the big slide with her Dad’s help. There is no blue badge parking at this play centre (I have asked why) but I was fortunate to get an end space, with enough space to pull the buggy up alongside.

Monday evening: Swimming lesson night! GG loves the water but comes out shattered. GG completely refused to put her boots back on (after a battle to shower, get dried and dressed). Once again I carried her, shoeless this time, back to the car and lifted her into her car seat. Being right next to the entrance was much needed as I hauled swim bags x 3 plus 2 tired kids outside, whilst carrying a non-co-operative GG.

Tuesday evening: Big sister’s hockey training night. Again GG did not want to leave the house after school, so she was placated with a bag of crisps and her blankie, and carried to the car. Getting her out again to drop her sister off would have added to her distress, so being able to pull into the blue badge space nearest the pitch meant I could wave big sister off without needing to – a massive bonus.

So as you can see, almost daily – even on a school week, the blue badge really helps to make life a little easier. In the school holidays we would be much less able to get out without it.

There are a a couple of questions I have been asked that I also think are worth addressing.

Are GG’s needs more than those of a toddler? GG is like a young toddler in a (tall) 7 year old’s body. Having had 3 children, I have faced the challenge of not being able to open a car door sufficiently to help a young child into a car seat. However there are always other options – I (like many) have lifted a baby in through the car window. I have helped a toddler clamber through from the front seat and leaned through to the back to secure the seatbelt. With GG, I cannot use these methods and my only option is to put her in the buggy, on a safe pavement and move my car to somewhere we have space. GG doesn’t understand what is happening and thinks I am driving away without her – it is so stressful for her and an absolute last resort.

What if there are not enough blue badge spaces? I have a lot of sympathy with this argument but if for example, there were not enough hospital beds for those needing one would we argue that some people didn’t get one, or would we fight for more spaces? If more spaces are needed then let’s make sure they are provided.

I hope that this has given you an insight into our life and how a blue badge has made a significant positive impact. As you have read, a blue badge is really important when you have a child who has behaviour challenges due to a learning disability, which often results in carrying and lifting to the car. It is important to a child who cannot manage long distances and tires easily, so still needs use of a specialist buggy. It is important to me when I need space to lift an older child into a car seat, because they physically can’t or won’t co-operate with you. Both the physical and hidden disabilities justify the need.

I would welcome your support on the consultation which can be found here:


Flash Forward To GG’s Future

party-146582_1280.pngRecently, I was lucky  to enjoy a rare girl’s weekend away for a family birthday celebration, a couple of days of freedom! The venue was an over-18s which was a new experience for me – it felt strange not to have children around, but an experience I was happy to embrace.

After a huge amount of organisation to ensure things ran smoothly in my absence, and having stayed at home to help with the (always challenging) bedtime routine, I missed dinner and arrived part way through the evening entertainment. After grabbing a glass of wine, I immediately noted that the majority of guests were of pensionable age and proceeded to have a good giggle about being the ‘youngsters’ in the room. However, there was one notable exception to the sea of grey hair, which I picked up on over the course of the evening – there was a much higher than usual representation of adults with disabilities.

The Fabulous Dancing Lady

By 11PM the disco had started and our group was up on our feet, making the most of the opportunity to dance. We were beaten to the dance floor by only one individual – a beautiful lady, younger than us, who had no inhibitions and was literally having a ball, strutting her stuff. I suddenly had a ‘flash forward’ into a possible future life for GG – there were so many similarities despite the difference in age. Over the two days, this lovely lady became our dancing companion. There is no doubt that we all let our hair down more than usual, thanks to her fabulous ‘give it your all’ approach to dancing. I haven’t laughed so much in years!


I also spent some time observing her mum. A tired but happy looking elegant lady who was never far away, but obviously comfortable enough to sit and relax while her daughter was having fun. I also noted the regular prompts to have a drink, I saw at dinner the support needed to choose and order a meal, the accompanied trips to the loo and I watched as Mum spotted the signs of tiredness, and gently encouraged her daughter to call it a night. I saw the constant ‘watching eye’ to ensure her daughter was safe and not disrupting other guests but most of all, I saw a mother and daughter enjoying a weekend away together.

roadsign-2570954_1920 (1)A positive picture of the future

I observed all of this and I didn’t feel sad or worried – I felt hope for a future that maybe ours. A future in which there will be leisure opportunities, weekend breaks, dancing, laughter and acceptance into a community. A safe place to go with a grown-up GG which is otherwise difficult to imagine (outside of specialist provision). I have always feared thinking about the future but now, I am more positive. I hope that we will be equally as happy as my lovely dancing partner and her mum.

The Guilt of Respite


For the first time today, I used the 5 hours that GG was in holiday club to go out with my other two children (and not for me to work). We were all excited  – although tried to not show that in front of GG. It was a 5 precious hours that we chose to spend outdoors, exploring the beautiful local countryside and walking the puppies. It was a glorious day and we had a great time.

In all honesty, I did not miss the screeching, the stressing over whether GG will drink and her refusal to use an unfamiliar toilet. Hauling the buggy in and out of the car and not being able to get in and out of the tea shop were welcome upsides.

I absolutely loved being able to dawdle and explore, GG hates being still in her buggy so stopping is never an option. We visited the Birds of Prey Centre where GG would have struggled with the noise. We enjoyed the simple pleasure of being able to run through the woods with the dogs, and for me being able to watch the others on the climbing frame, without having to join in to help GG around.

GG on the other hand had a lovely day out. Along with some of her school friends, she came home full of smiles, an empty lunchbox and keen to go back again tomorrow.

Perfect you would think so why do I feel so guilty. It is because I missed GG’s smile as much as I missed her screeches. I missed her giggles as much as I missed the inevitable tears. I missed the simple pleasure GG takes in a cheese sandwich whilst my others devoured lunch without a thought.

It felt like we were incomplete as much as it felt a relief to have a fun day without the additional challenges. Every photo I took was missing something. Perhaps in time I will come to accept this new phase in our lives. I know how much we all need some time out, GG’s siblings in particular, but I wish with all my heart that it didn’t have to be like this.

2017 GG’s Best Year Yet!


The past year has been a whirlwind  with significant changes in our lives and for GG it has, without doubt, been her best year yet.

The Big Move…

The big news of course was the house move, 200 miles from all that GG had ever known, to our new life in the country. The move has proven to be the best thing we could have done. We have the space for all that GG benefits from – a ball pool in her Peppa Pig bedroom, enough room to (clumsily) push her baby’s pushchair around the house and space to play away from her noisy younger brother. The outdoor space is even better and the investment in a sunken trampoline that GG can access without support has given her a new level of freedom.

The New School….

With the move has come a new school where GG has settled incredibly well. Described as the ‘mother hen’ in her classroom, GG has developed friendships and has made progress beyond our expectations. Her annual review started with ‘What do we like and admire about GG’ – it was an uplifting and positive experience, no longer fighting for her every need but surrounded by a team who could not be more helpful.

GG’s Busy Social Life….

The social opportunities have expanded as well – we have managed to replicate horse riding, swimming and Brownies and GG has adapted well. The addition of a local boccia group which her siblings join in too represents truly inclusive sports. Holiday club options have also worked well with GG happy to get on the bus with her packed lunch. Our precious girl has such a busy social calendar!

GG’s Love of Animals….

We have extended our repertoire of animals – GG still loves her daily Guinea Pig cuddles and is as excited as the day we first had them. The addition of an outdoor cat has had limited impact, however the 2 puppies we bought home in November have enhanced GG’s life beyond all of our expectations. There is no longer a fight over getting dressed in the morning as she is so keen to make it downstairs to see the ‘woofs’. The smile on her face as they welcome her makes all of the extra work worthwhile.

On the Health Front…

Medically 2017 was a relatively stable year, discharged from cardiology, better results from the eye tests, only a couple of UTIs and a subsequent scan showing no significant issues. Appointments with many other teams but none too worrying. Most of all GG’s epilepsy has improved – it is still there and we continue to sleep with one eye on her video monitor – however we have even removed one of her medications with no impact. We could not be more delighted and we hope we will see an improvement in concentration and behaviours as a result.

GG’s Major Achievements…

In addition to taking major changes in her stride throughout the year, in the last 2 months of 2017, GG had her art work displayed at a local show, coped with going on stage to receive donations on behalf of her holiday club, and most importantly leapt an astonishing 1 year and 4 months forward on the assessment of the level of her understanding. GG has also started to sing which delights her and all those around her. There is no doubt that 2017 was GG’s best year yet.

As we move into 2018….

We are so excited about what GG can achieve. Our focus on improving some of the challenging behaviours will continue. The EHCP transfer will no doubt prove a challenge, and just maybe 2018 will the year of the diagnosis for our gorgeous SWAN as we await results from the 100,000 Genomes study. Let’s hope 2018 will prove to be even better.