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.

#LivingwithLD – Living Our Lives on Replay

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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.

WHY MY MOBILE CHILD NEEDS A BLUE BADGE

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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: https://www.smartsurvey.co.uk/s/R2OF6/