Uncategorized – Page 2 – The Wrong Kind of Snow

A Hymn to Him

An unapologetic love letter to my Dad.

I don’t know why you have been on my mind so much lately, it’s twelve and a half years since you died. Perhaps it is watching your small wobbly granddaughter achieving her small significant steps, and hurting that you never met her or knew of our struggles.This morning I saw a bright, quick, robin with worm in beak.I stopped and we made eye contact.I smiled quietly. Somewhere I heard an old story that robins were spirits of loved ones popping back to check up on us. Oh I think this is nonsense, but just like children want to believe in Father Christmas I want to believe in this.

A huge rush of memories was undammed by this bright eyed creature, smells, sounds, questions unanswered.So many stories trail behind all of us and you were quite secretive about yours.

In white working class Essex, I did not know anyone else whose Dad had been brought up in India, with servants and in what looked like a stately home.Your Great Grandmother was half Goan.With Anglo Indian heritage in what was then Bombay your family did not really fit. Too English to be Indian, and too Indian to be English. How was it for you I wonder? I know you had an Ayah, and that she was too young for the job and gave you Opium to keep you quiet.I’m told this affected your lung development and led to the chronic problems with breathing you suffered from throughout your life.I know you loved your Cook and spoke Hindi to him because you told me suddenly in a rush of memories as we were washing up one day. He cried when you left for England. I expect you did too. You told too about the riots during Independence, and the servants coming to find you in a shop and hiding you in the back until the trouble had passed. This memory when voiced was so precious, so rarely heard that I did not push you for more information and now it is too late.

The Hounslow girl who you met at a dance and later married, tells me that your mother was ill prepared for life in a London semi, terribly untidy and that your untidiness was due to servants picking up after you. Who would have thought that a Council House girl and a diffident chap from Bombay would have so much in common? She thought you looked like Clark Gable, she reminded you of Ingrid Bergman.I’m so glad you met, and that the Doctor who told Mum that with your chronic emphysema you wouldn’t make 40 was wrong.I have a particular interest in that part of the story as I was the “autumn blessing”when you’d already got well past the babyhood of the one of each who were already there.

I know I get my work ethic, drive and ambition from you.You also passed on a strong faith in God and politics. People found you gruff, and plain speaking to the point of offence at times. Your views were very black and white, there really was no grey. As I hit my teens this was the cause of huge arguments, theological and political. You had been in and out of hospital and had near misses so many times that I was always concerned that I would be the one to trigger, through stress, the final asthma attack. I think we both knew you were too stubborn for that.

Your best beloved told me not to come home if you died while I was away doing my degree, she would manage just fine, but no you carried right on on your one functioning lung, moved to a new area, made new friends created a new and beautiful garden, gave me away on my wedding day. I remember (I seem to have something in my eye as I type) the speech.You couldn’t believe in arranged marriage you said, as you could never have chosen anyone as perfect for your beloved daughter.(You were right)

You haven’t seen them growing up, my children, the eldest receiving university offers. You stood up and cheered at the Free Trade Hall in Manchester as I walked across the stage to receive my degree, the first in our family to do so. When I think of you I am still trying to make you proud, but I know you were proud of us all, Big Girl , My Son and Girlie .No one calls me Girlie now.

You would have been proud and worried about my boy, who has struggled with depression and life. When he was diagnosed with Aspergers I was adamant. “He’s not on the spectrum he is just like his Grandad” Oh Dad I think he really is and that you would have been a prime candidate for late diagnosis.

As for the Pearlie Girlie, no one could fail to love her, I’m so sorry you didn’t get to meet.

Dad you would have been particularly proud of mum. She cared for you so beautifully at the end, after a lifetime of caring. She was determined to keep you at home with the hospital bed in the living room and very little extra help. Driving that road and not knowing whether you would be there when I arrived, in and out of hospital again, but you stubbornly clung onto life. I will never forget the phone call “the terrible day has come” and there you were looking so young and peaceful in the living room while we just had a cup of tea.

She has gone on that girl of yours to carve out a life in her community, move house to be nearer us, and start all over again. I see her getting on, but missing you.She still says “we think” as if you have discussed it. I suspect you probably have.

More than anything, the thing that hits me right here is a cuddle from your best beloved and the phrase “your Dad would be so proud of you all”

Host.

In which we commune with nature and the life scientific.

I am currently taking part in an experiment aimed at conserving some of Staffordshire Moorlands wildlife.Oh, I do love nature generally. Being an outdoor girl I love watching the changing seasons, spotting nature red in tooth and claw, even observing road kill up close on a country run interests me.

This wildlife, however I feel more ambivalent about.

Pearl goes to school over the border. Clearly The Real Housewives of Cheshire have no particular difficulties with parasitic infestations of any kind, and are far too busy being sprayed orange to give anything else headroom.

I however, as a transplanted Essex girl,have plenty of headroom and freakishly thick hair into the bargain.I like hugging. So does Pearl. She is currently hosting (purely for conservation purposes obviously) a herd / nest / itch/ incubation, of Staffordshire Moorlands finest head lice.They are a particularly hardy strain.It gets cold on those moors and they like nothing better than a mane of Pearl hair to snuggle into.

Despite my propensity for Toni & Guy hair colour (God bless the junior who admired my “natural”hair colour last week) I am itching. I used to think of this as a personal failing, but these days I am inured to it. I am simply a marvellous host.

I realise you lovely people have never struggled with such base and unpleasant visitors. When I say we’ve been clear of them for six months you’ll know that’s not the case here.

At this point if you are thinking of sending in helpful tips to get rid of the little buggers please don’t. Short of dousing them in paraffin or shaving our hair off completely there is nothing I haven’t tried, including:

Derbac M. The most hideous and strongly smelling pesticide you can apply to a human. No longer available for head lice treatment it is the only lotion I have found that truly works.

Tea Tree shampoo, to discourage them from hitching a ride. They don’t like the smell, apparently, unless they’re from Staffordshire in which case they just don’t care.

Electronic beeping combs to electrocute them. Makes you feel empowered and slightly psychopathic. The Glory is still having counselling from being held down and combed with one, while I maniacally shouted “die, die,die”. Doesn’t work though.

Nitty Gritty Combs. Now actually they really do work. I possess five. (At £10 a pop you can work it out) Can’t find any of them. Where do they go? Has the dog buried them? Are the teens hiding them? Has the Mister found a new and innovative technological use for them? When he (the writer of apps) creates one that kills head lice,then,then I’ll sit up and take notice.When I say they work, they work if you comb hair throughly and meticulously every other day.

Have you met Pearl? She’s feisty. She has sensory issues. She’s is non verbal but by no means silent. Her screams are ear drum fracturing .Oh and she hates having her hair brushed with and ordinary brush and she’s not big on keeping still. Chasing a wobbly girl around a room with a clump of her hair in my hand wielding said comb is not one of my favourite pastimes.

So as a nature lover I have some questions for the Creator, evolution or any passing naturalist. What are head lice for? What is a head louse’s contribution to the life cycle? What eats a head louse? What biological function do they serve? In short what does Pediculus Humanus Capitis bring to the party?

Urgent answers are required. If they are indeed worth conserving the comb goes in the bin. If as I suspect, no one really knows, stick your head out of your window, and you’ll be able to locate Cheshire from the direction of the screaming.

Summertime sadness.

In which the summer seems never ending,a biddable girl shows her assertive side,and her mother fails to step up to the plate.

The six week holiday is over, a collective sigh of relief can be heard from homes all over the country.

A summer holiday with Pearl is generally trying. We spend the first week being bad friends. Pearl expects me to provide days full of excitement at least as interesting as school. I expect to be able to continue with work, tidying and writing in much the same way as I do in term time. We are both stubborn and unreasonable. Oh, that’s not quite all. Every holiday I have two noble aims. Firstly I will toilet train Pearl. Secondly I will teach her how to speak. Pearl has been in the school system since the age of three. Every single holiday since then I have had the same aims. I have clearly learnt nothing from this experience. Neither has Pearl.

This holiday has been particularly difficult. I ditched the goals in the first week (there was a lot of wee). In retrospect reducing my antidepressant dose was not well timed.We did however do some amazing things (In the Night Garden Live anyone? At least as enjoyable as Benedict Cumberbatch in Hamlet last summer. Truly) I however struggled.

I had plenty of Direct Payment money saved, for plenty of support from Pearl’s two awesome Personal Assistants, but I struggled. I was tired, so tired. Nine and a half years of special needs tired. Mr Pearlie J and I went away together overnight, child free .Still I struggled. I just did not want to come back. Pearl went out with her PAs. I did not want her to come back.

For the first time in ages I lacked flexibility, I was tired, I hated myself, I hated my life and I struggled.

Pearl I suspect is prepubescent (Worms anyone? They’re tinned) I am well into an early menopause. This is a heady combination. Being Pearl, full of hormones, cognitively challenged, full of self esteem and non verbal, led to kicking, stamping, shouting and biting. Independence fostered at her fantastic school resulted in tremendous attempts at achievement any time I left the room to do anything as ambitious as going for a quick wee.Things were spilt, fallen off, broken, and rooms generally trashed. I most fabulous and patient of women, had none.

If you are possessed of an assertive young person of differing ability things cross your mind when meltdowns occur.

Is she autistic like her brother? How do I know? Would knowing help?

Does she hate me?

Do I hate her?

When she is 46 will she still be doing this?

Is she in pain?

Is she regressing?

How will she cope with puberty when it properly arrives?

Will any of us survive until September?

My default response to these thoughts, which race harum scarum through my head at a mile a minute is a good healthy dose of denial. This holiday someone appears to have taken my denial, and its helpful assistant emotional resilience. I only hope they had much joy with them.

Our holiday for me was characterised by a beautiful picture of Pearl I shared on my Instagram page with the following post.

“This is the proof of the lies that Instagram tells. A beautiful picture of a glorious child taken by her stylish mother. Pearl and I left the house early, dog in tow for a secret trip to Beadnell Bay. I’m such a great mum! Pearl wanted to walk from the car, despite not wearing AFOs (splints) just crocs. She feel over, screamed, I manhandled dog, buggy and screaming dervish onto beach where she continued to scream repeatedly. At this point I noticed that she had horrible dental caries on a back tooth she never lets me brush. Feeling super crap at parenting I encouraged her to play in this hole, she calmed down, I took this picture. This was followed by renewed screaming as the sand had got into the graze, which was much worse than I realised. Bundling dog, 3 wheeler and screaming childback into the car I winded myself on a kissing gate.

Tomorrow I am putting her in bed with Dad and an iPad, while I go out for a run. Alone.”

On the morning Pearl went back to school,my shoulders moved away from my ears a good five inches. I missed her. I loved the fact I missed her. All the guilt and anger and fear faded away. When I look back over the holiday I know I will remember the stand out parts, not just the stand out tantrums. I’m mindful of another special boy, who did not make it through the holiday, and hold my bossy, sassy, tiring girl a bit tighter.

I remind myself how far we have come. Pearl is learning. She has changed. We do love each other, oh how this child is loved! She will learn and grow and change again.She is just 9 and her body is getting used to growing into her future womanhood.

These tricky times will be got through. Like the endless holiday, this too will pass.

Exchange

When I was at school it was common to have a few foreign exchange students join us for a week or two. They seemed so exotic. Their clothes were brighter, speech eccentric, even their mannerisms seemed strange and new.

I was never lucky enough to host one of these fascinating creatures, but recently have been enjoying a cultural exchange of my own.

Imagine being air-dropped in a foreign country. Totally fluent, you just fall out of the sky one day. You’re articulate, the locals treat you as one of their own. They assume you understand everything, not just the language but also cultural jokes and idioms. Facial expressions seem strange and don’t always equate to those you saw back home. Gestures you knew to mean particular things make little sense.

The initially friendly residents of this new state become short tempered with you, assuming you are ignoring them, or being rude and difficult. As well as this, all colours seem much brighter, and the volume of everything has been turned up to the very edge of bearable. Textures seem more pronounced, clothes rougher, trees pricklier and worst of all – smells are much smellier.

This is the closest I can come to imagining the world my bright, witty 15-year-old son with Asperger syndrome inhabits. I can tell you now that if I was living with that every day I would be crankier, more tired and have meltdowns on a regular basis. Wouldn’t anyone?

The family he was airdropped into was noisy, opinionated and busy. Oh, and blessed with a permanently sarcastic mother.

I had limited experience with classic autism through my work as a speech therapist – so never suspected my son could be on the spectrum. He was caring, cuddly and very verbal, fond of long complex words; this was not what autism looked like. Being busy with two other children, one of whom had significant special needs, I was quite short-tempered. This boy who didn’t listen properly, willfully misunderstood obvious situations and took everything literally.

I’m known for being perceptive, caring and empathetic (modest too!). In moments of glorious parenting these graces were not extended to the boy.

I could not believe he could not follow simple commands. ‘Your ears are big enough, use them.’ He used multisyllabic words in conversation, but would then ask for explanations of simpler words. ‘Of course you understand it,’ said the ever-loving mother. As for the ‘tantrums’ we thought he was putting them on.

The day I saw him practicing facial expressions, I began to wonder. My guide into this new country was Tony Atwood. As I read The Complete Guide to Asperger’s Syndrome the scales fell from my eyes (metaphorically speaking). It became my anthropological guide. Chapter after chapter, another apology to my poor boy.

Attempting to understand his autism has included unpicking everything I perceived and understood to be normal. Things I assumed were right are just cultural or societal, not inherently correct.

I’ll give you an example. Someone recently told me that a member of their church was autistic and non-verbal. The church was very accepting of him even though ‘he always wears a hat, won’t take it off – and of course you can’t wear hats in church.’

I nearly choked on my tea. Who or what decided that wearing a hat in church was wrong? GOD?! This, my friends, is a cultural, not ‘normal’ expectation.

Presumably, our culture has this ‘normal’ expectation too, which allows us to happily go about our lives feeling comfortable and reassured. Now, like it or not, my son is going to have to learn some of these rules to ease his way into society, but actually as a society perhaps it’s us that need to make some adjustments of our own.

Look at our own culture. We live on a small island with a rich literary history. Fond of quotes and metaphors, big on small talk and oblique passive aggressive hints. How would anybody on cultural exchange be expected to know that the correct answer to, ‘does anybody want this last potato?’ will always be ‘no’? Why would anybody peel their eyes and if they did, how would that help them to see better? If somebody looks affronted but says they are ’just fine’, why are they angry if you switch topics?

The English place a high value on social conformity, and are just waiting to be embarrassed, hard if you are wearing the wrong clothes, tapping, flapping or smelling the items in shops.

The boy was reluctant to wear coats. I have taken ages to get my head around this. I am a chilly mortal, and have worn gloves in June before now. He, however, is not me. Also, he has sensory processing disorder. I was astonished to learn that this is really common in autism spectrum disorder (ASD). So, perhaps I needed to look at the fact that he would happily wear a hoodie. A hoodie is, after all, a coat by another name.

Wasn’t he grateful when I bought him two pairs of new jeans as he’d asked? ‘One just the same and one a different colour and cut, just to make a change,’ I assured him. ‘The horror in his eyes as I realised – rookie mistake on my part – that for many people with ASD, a change will NEVER be as good as a rest.

So, as I prepare my boy for transitioning into the wider world, where going shoeless and wearing a 4-year-old hoodie, which only reaches his elbows is frowned on, he also shows me that so many things I thought were important, are really just part of my culture. It is, indeed, possible to wear a duvet outside to keep you warm. Do this in public and the locals will stare at you. Is the staring more uncomfortable than wearing an extra layer? That’s your choice.

I’ve learnt to hold clothes to my cheek before buying, and laugh at idioms. We journey through together, picking through social etiquette, deciphering the most important rules to save, to keep the peace, while trying to keep it real.

First published on My Family our Needs as “Unpicking Everything That’s Normal”

Rear Window

In which the state intervenes in the parenting process,but fails to offer any sense of direction.

Imagine this. A bright room, full of children and toys. A one to one adult to child ratio. Music. Paint. Glitter. Lovely.

At the rear of the room a large mirror. I am sitting invisibly on the other side. It’s dark. There are a lot of other parents of various shapes and sizes I’ve never met before. I can see Pearl, she can’t see me. I can’t help her. I can’t touch her.

For an hour and a half adults neither I nor Pearl know, interact with her and the other children, in a variety of ways. They play, they question and touch her. They also occasionally share knowing glances with each other. I have 18 months of experience of what Pearl can or can’t do, and how best to help. I can see through the glass when she has not understood, even see when biscuits are being given out and Pearl is asked “Do you want a biscuit?”, “eh” (yes) the reply. She is asked again,replies again.The TA looks exasperated and asks again. Finally the Occupational Therapist who was looking at another child’s hand control intervenes “Pearl said yes”. A beat. “Well I can’t understand what she is saying”replies the TA-who disappears mysteriously in the weeks to come. I sit on the other side of the glass, invisible and shrinking into myself. The parents of children with Down’s Syndrome have formed a group, two other parents who have loud opinions on everything are holding forth in a corner. I am slowly reducing in size, wanting to pound the window, pound the TA’s head, feeling utterly disempowered.

This may sound to you, gentle reader, like a hellish dystopian future where the state judges, you, your child and your parenting. It is in fact The Child Development Centre.

As Pearl’s difficulties became more pronounced, and as the Professionals utterly failed to recognise what a beauty and genius she was, we had somehow accessed an open play session at the CDC. We arrived once a week to play with the children, have access to therapy services to ask questions, and chat.

It was fun. Pearl and I were speedily fast tracked into the CDC proper, which is where you find us. Fun and soft observational assessment were quickly replaced by standardised tests,sessions with all the therapists and a growing sense of desperation. I have since found out that the children who attended were thought to be the ‘worst’ in the county. The one redeeming feature for me was the presence of our amazing physio, who continued to provide appropriate exercises, useful suggestions, and spoke to me like an equal. Apart from this I’m not sure what the CDC was for. I had briefly thought that Pearl would receive the golden “early intervention”that would cure her and get her back on track to join her peers, but as the months went on this seemed less and less likely.

What did I gain from this early intervention then? Well I found out about Disability Living Allowance. Although there were in session, two specialist TA’s a Special Needs Teacher, an Occupational Therapist, a Speech Therapist-the person who told me about this was a parent behind the mirror. I met a ridiculous continence nurse, who came to give us everyday advise on potty training, and seemed peeved, when a few of us explained that we did not see it as a priority as our children could not walk, talk or sit up on a chair let alone a potty. Later it was another parent who told me that we would be eligible for nappies-not mentioned by the continence nurse. Nobody would advise me on what would happen to Pearl as far as nursery or school was concerned-because it was not their decision. In the end another rear window parent told me about a School for Parents in the adjoining county, which Pearl eventually went to before being accepted into the attached school.

In a sense then I did learn something about Special Needs Parenting. Firstly that no one would tell you anything, that you would have to find out for yourself. That other Special Parents could offer incredible support and point you towards resources. That some parents operate a kind of reverse competitiveness “oh she sleeps through the night, lucky you, mine doesn’t sleep AND has fits AND is autistic AND has reflux AND… but she did start walking at 18 months so I expect yours will too” Avoid these parents at all costs. In retrospect I can see this was a coping mechanism, but never let someone else’s coping mechanism interfere with yours. Just don’t. Hopefully these parents found their tribe. I found mine and met some parents whose coping mechanisms involved coffee, cake and dark humour. I also met our current Paediatrician who is just wonderful, got Pearl and us, and begins every report with “what a delight it was to see Pearl in clinic today”.

So Child Development Centre Professionals and your ilk, what would I say to you?

Don’t become overexcited by the assessment process and forget the child.

Don’t congratulate yourselves on providing “early intervention” if the parents don’t know the purpose or see the outcomes you are working towards.

Use your common sense about human interactions, introduce a group of parents to each other before putting them in a darkened room together, perhaps use this time to lead a group looking at resources or an introduction to Makaton.

Remember that in these early stages many parents will be in denial. Others will be overwhelmed. Do not assume that they will take everything in. Tell them your plans.Tell them again. Tell them again. Write it down. Put it in a handout.

Make sure your TA’s like children.

Explain to each parent why their child is in the group and what you hope to achieve. For example “because they are struggling in some areas we will assess and give you ideas to help at home. We aim to put together information that will form the basis of an individual plan to help them on the educational setting, we want to involve you every step of the way and help you decide what kind of a plan and setting would be most appropriate for your child”

Check that parents know all about support available, do they have a social worker? Do they receive the relevant benefits? Are they accessing hydro therapy? Do they have appropriate seating, adaptations? Do not EVER for one minute assume that these things are already in place.

Do not forget, DO NOT EVER FORGET, that parents can see EVERYTHING through that mirror. They can see if you are exasperated with their child, they can see if their child doesn’t like you. They can see and hear if you are talking over their child and ignoring them. Treat watching parents like you would an Ofsted inspector. Show them your working, planning and best practice, and then do it again the next week, and the week after that, and keep right on doing it. These parents are your partners.These children deserve it.

Outdoor Activities to Get Kids Out of the House This Summer — Kids Gallore

Reblogged from kids gallore.

Pearl is an outdoor girl-have wheels will travel.

Her school is amazingly awesome at providing her with astonishing things to do.

There is a reason I was not a special needs teacher. I have no ideas.Unsurprisingly,in the holidays she is not keen on sitting quietly beside me while I read for 6 weeks.

Fortunately I have just discovered http://www.kidsgallore.com and found this nifty little blog. Full of ideas which can be easily adapted for a wobbly girl I particularly like ice eggs.

If like me the summer holidays seem slightly terrifying have a look!

Craft With Seashells Seashells make a great craft because they are inexpensive (or free) and the options are endless. Your tots can paint them, string them, or stack them. The only thing needed is some glue and a little creativity! Make Designs With Body Paint No need to head to the fair; have fun at […]

via Outdoor Activities to Get Kids Out of the House This Summer — Kids Gallore

Echoes

In which the past though a foreign country, suddenly hijacks me on the Millennium Bridge.

There was a road that led home from my school, a long endless road it seemed to me, although I was much smaller, and my legs much shorter. I walked home down this road every day from the ages of 5 ’til 18, often twice a day when I went home for lunch.

I remember small girls thoughts inside my head. Would I always be walking here? Did the Jane of yesterday and the Jane of tomorrow walk along here at the same time as me? Could I one day bump into myself? ( I was a solitary bookish child).

I recalled this when I hijacked a works trip to London with Father of Pearl. London was so close to my Essex home, that school trips, gallery visits and teenage forays all started at Liverpool Street station. F o P dashed off to his meeting while I moseyed over the millennium bridge to catch a tube to the V & A. I found myself face to face with St Pauls, and wondered if a primary aged Jane crept around the whispering gallery, awed, excited, nervous.

I stride, child free and grinning from ear to ear over the Millennium bridge. Briefly I was taken aback and wondered if small girl Jane would believe the world of wheelchairs, special schools and endless fights she would grow up into. Before I had a chance to feel the sad longing for a ‘normal’ life I remembered.

I remembered the quiet serious, bookish child, who struggled to fit in. The girl who was concerned to keep the peace so her poorly Daddy wasn’t worried into hospital with an asthma attack. The teenager who always wore the wrong clothes, bought at the wrong shops and who was declared” the frumpiest girl in the school” (oh how we laughed) The sixth former who on a trip to this very London threw up in Covent Garden (something I ate? Nerves? I’ll never know) which triggered a two year battle with an eating disorder which seemed would make her fade away.

And then I think of my ‘non typical ‘ life the profession I had to give up, the hospital appointments, statement reviews and filing cabinets of reports. The tired days the worried nights, and I catch myself.

I’m happy (and well medicated) confident, loved and in love, with life my jumbley, surprising, unexpected children, my fabulous Northern powerhouse of a husband, with this London – and with myself. Truly. And I remember that the solitary, serious Jane always had a huge capacity to love and was always loved in return.

So unexpected though my life has been would I change it? Well some days, yes. On the mornings I wake dreaming Pearl has started to speak I will always feel an aching and a longing.

I bend down and whisper to the skipping infant aged Jane ” it’s going to be alright”.

Saturday Siblings

A big thank you to the first born.

Someone here has been feeling a little left out of this blog.

In the blogosphere she is “The Glory” and glorious she undoubtedly is. Unfortunately (!) for her she is neurotypical, independent, helpful and as such doesn’t get much space on here.

So a quick thank you would appear to be in order.

Thank your letting me try out my parenting skills on you. I remember how I shook when I gave you your first bath-I was so afraid I’d break you!

Thank you for bringing Bad Lucy into our lives-I’m afraid she made us laugh lots.. and yes we did know it was you that did those things.

Thank you for growing into such a fabulous person, I’ve been scared of teenagers since I was one, you however are splendid, stylish, clever and witty and HAVE GREAT HAIR-you really do-so don’t ask again!

You show such maturity in your outlook and thinking, you are working so hard academically and I know you are struggling with social anxiety and depression. If I could wave a wand and take it away I would, but I am here and I have tea and cake.

Glorious, glorious Glory I love you, I ‘m sorry family life can be so tricky, and sometimes you get shunted to one side but you and we will be OK ‘cos we have each other and a tonne of love, kindness and humour (oh and video games).

Thank you for growing into a friend, but always remember I’m The Mummy. So there.

DNA

As somebody with a very fine sense of my own importance, not many of you who know me will be unaware that I recently visited Parliament.

Rab was convinced that I was going to take over the running of the country. While I am both bossy and opinionated, I was educated at a Comprehensive so lack the prerequisite background of most of our current Parliamentarians.

The Glory had suggested something altogether more anarchic, but as I believe in democracy not revolution I was not about to comply.

The present Houses of Parliament were built in the 19th century, there has been a Palace of Westminster on the spot since the 11th, and the buildings have been used for meetings of law makers for at least 500 years. There are places which have come to symbolise London, and this is one of them. Despite its presence on tea towels and the news, familiarity has not bred contempt in my case. I am always surprised by how architecturally beautiful it is. The stone is golden and it glows.

There are three things I feel absolutely passionately about, Science, Politics and Pearl (not necessarily in that order).

In my mind everything in life is about Science. How the sun rises, how we carry information genetically from one generation to another, even our washing powder, all science. As long as people remain curious there will be scientific discoveries. We will never classify, describe, collate everything. Science is infinite and has infinite possibilities.

Politics, similarly. Politics is everywhere. Not just how we vote, but how we structure society, how we spend money, what we as society place value on, it is all politics. Whatever your opinion on the current bunch of movers and shakers we are a very fortunate country. Thank goodness for democracy and universal suffrage.

As for Pearl, well in my life everything is about Pearl. Every waking thought, every sleeping dream is related to one small girl. Has she had her meds? Will she remain fit free? How will her muscles age? Will she ever talk? My life is Pearlescent.

Imagine my delight when I was invited with a group of SWAN bloggers and area reps, to combine a day of science, politics and Pearl. What could be more perfect? Oh and I got to meet lots of faces I have only seen on-line, and was allowed a day trip to the Big Smoke into the bargain.

An All Party Parliamentary Group is an informal cross party group of Members of Parliament. It has no status within Parliament, and is several stages away from the statute process.It is actually one of the bread and butter workings of Parliament that our politicians get involved with regularly. APPG is effectively a committee meeting. Non partisan, it raises awareness of issues, educates those who take part and promotes cross party working.

This particular APPG is The All Party Parliamentary Group on Rare and Undiagnosed Conditions. It met to discuss (with geneticists, medics, scientists, pharmaceutical representatives and SWAN parents) what we do with some of the new abilities we have to decipher the genome. Is diagnosis always possible? (no) Is it always a good thing? (largely yes). How do parents feel about it? (varies). How do professionals handle giving the news? (meh). Who helps the parents? (why SWAN UK of course!). Many parents had been involved in information giving and discussion in previous meetings. This was an opportunity for the report that followed to be shared with everyone involved.

The meeting was ably chaired by Ben Howlett MP for Bath, who also managed to press gang George Freeman Minister of Life Sciences at the Department of Health into speaking. Wonderfully both had a very able grasp of the issues, as did all the other speakers. Sarah Oakes mother of Joel spoke clearly and informatively about her experience of diagnosis, resonating strongly with our experiences as a family who have taken part in the DDD study. Read what she had to say here http://www.undiagnosed.org.uk/news/newsandevents/joel

Alistair Kent from Genetic Alliance reminded everyone that the parents,child and families of the study need to be forefront of the process, no matter how exciting the science.

George Freeman proposed a future where NICE (how we decide what is prescribable to who) guidelines may be relaxed to allow drug trials of relevant drugs to those with genetic or undiagnosed conditions. As a parent it felt very inclusive and collaboratory.

We all watched Renata Blower’s brilliant video about professionals working in partnership with parents you can watch it here : http://www.buff.ly/1s4tQGp

Of course what you really want to know is was there cake? Indeed and amazing canapés. Also wine,which in my role as a taxpayer I felt I should try on your behalf.

My MP David Rutley, graciously responded to my invitation and came,and has subsequently been informed (!) by me of some of the difficulties we’ve experienced,and how they are likely to effect his other constituents. (He also recommended some of the sausages,which I was being far too polite to consume).

So how did I find the experience (the Reception rather than the sausages,which were incidentally delicious). It was immensely heartening to see cross parliamentary working, to be taken seriously by professionals and politicians, and to hear that they often want to do away with bureaucracy as much as we do. I can only hope that young politicians rising up the ranks such as Ben Howlett, will be able to ensure that Parliamentary process remains relevant and not unnecessarily bogged down in historical red tape. We all want a government run by the people for the people, and that is what our Parliamentary representatives should be, people who stand up for their constituents whatever the political persuasion.

So what is the outcome of the APPG what has it achieved? The report is excellent,and a resource for patient,parent and professionals alike.There are also amazing pictures of beautiful rare and undiagnosed individuals along with their experiences take a look. Hopefully it should give some guidelines on how to apply some amazing scientific advances.

“Genome sequencing continues to become quicker and cheaper with every passing week and the NHS must take advantage of the clinical benefits that will arise in parallel. However, as it does so,the real people behind the data must not be forgotten. For families who receive a genetic diagnosis, it’s not the end of the road; they still care for a child with complex medical needs every day. By implementing the recommendations in this report the journey for families accessing genome sequencing will be smoother and provide the care that these families really need”
Undiagnosed. Genetic Conditions and the Impact of Genome Sequencing. 2016

As a parent I feel hopeful about this.

As a parent I also feel concerned that all the beautiful guidelines in the world, will not help anybody, if austerity measures continue to lead to cutbacks in frontline education, health and social service budgets. Good communication is key, but so are people in clinics, if parents are to receive effective support. This was something I put to both of the MPs I spoke to,and something I will continue to bang on about for the good of science, politics, and my Pearl.

Pearl will always be more expensive than her siblings, she will always require support,and will never be able to pay this help back into the economy financially. None the less her life is just as valuable as that of any politician in the highest government in the land.

Read the report: http://www.raredisease.org.uk/documents//undiagnosed-genetic-conditions-and-the-impact-of-genome-sequencing.pdf

Remain engaged with politics, and science. Also engage with Pearl by following thewrongkindogsnow.

Check out the work of the Genetic Alliance: http://www.geneticalliance.org.uk

SWAN UK: http://www.undiagnosed.org.uk

And if you are a professional take a look at Renata’s vlog to see how we as parents appreciate your good practice.

Belong.

Undiagnosed Children’s Day and SWAN UK,have prompted consideration of the importance (or otherwise)of diagnosis

Undiagnosed Children’s day is on the 29th April.

Did you know that approximately six thousand children in the UK with assorted Special Needs and disabilities do not currently have a diagnosis?

I learned this after Pearl’s first round of diagnostic tests at 18 months. I was astounded, surely the SEN teacher in the Child Developmental Centre was wrong? My girl was wobbly, couldn’t speak, was missing developmental milestones all over the place, and couldn’t walk. That HAD to have a name didn’t it? Pearl obviously had a diagnosis or would be getting one very soon. Oh yes.

In the interests of honesty, I’ll tell you a secret. I did not really want a diagnosis as it would prove there was a real problem that Pearl may not grow out of. I was also more interested in treatment and therapy than a name. Looking for a label seemed to imply that there was something wrong with my atypical, perfect child. Obviously if Pearl had a syndrome it would be called HGS (Happy Gorgeous Syndrome) or ‘Probably a Genius but slightly held back by circumstance syndrome’ (PAGs) for short.

So why do we all get so het up about diagnosis?

Children with SEN can struggle to fit in with the mainstream world. As you merrily bob along to the local Mums and Tots and shoehorn your child into Gym Babes (an experience I soon discarded as all the children younger than Pearl learnt to walk and graduated to Tumble Tots) it’s clear that there is a difference. We are social creatures and we all need somewhere to belong. As you realise this, and your friends are ignoring you as all you talk about is medications and hospital appointments you look around. Oh look! There is a Special Needs Community! They get it! In truth in the early years everyone I met in this community got a diagnosis and peeled off into specific support groups. I’m afraid to say that many in this community struggled with our lack of diagnosis even more than out pre Pearl friends. Hadn’t we met this nurse? Wasn’t our Paediatrician very good? Had we seen the Geneticist? Everybody seemed more interested in Pearl’s diagnosis, or lack of it, than Pearl.

So why get a diagnosis anyway?

Firstly it’s easier. When people ask “what’s her problem?” instead of replying “people who ask insensitive questions” you can give a short sharp punch, sorry, I mean answer.

When the DLA send you the mother of all forms, you can save (some) time by putting PAG syndrome in the “cause of difficulty” box.

Importantly it may be that your diagnosis is a difficulty that doesn’t stand still, progresses, or responds to treatment. As a parent this is something you need to know. You may be able to stand on the shoulders of the giants of research and academe and benefit from their hard work.

Siblings. Those people who have learnt more about disability than many junior Doctors, they may need to know. After 3 A4 pages of rejections from the likely diagnosis club I was ready to throw in the towel. Pearl’s eldest sister, referred to in the blogosphere as “The Glory”had a very astute appraisal of the situation. At 15 she wanted to know could she have a child like Pearl? I had not even thought about inheritance. I had to put my feelings about the diagnostic process to one side for her peace of mind.

The main, overreaching reason I can see that we require diagnosis is that our society works on the Medical Model. The Professionals come in, they assess, diagnose and treat. Funding follows. We have all been brought up with this. It is the glory of modern medicine.

My preference is the Social Model, which takes everyone however able or otherwise, at face value and changes society to make it accessible to everyone in every way. Get with the programme people, we need adjustments. Make them. Unfortunately we are quite a way from this being our societal default. Until it is diagnosis will continue to be hotly pursued by medics and parents alike.

Where does that leave the 6,000? Where do they belong?

SWAN (syndromes without a name) is an initiative of the Charity Genetic Alliance UK, to support families of undiagnosed children. They are simply fabulous. Organising support pages, local groups, information sharing and giving parents the opportunity to vent and celebrate in a safe space. Importantly they also offer access to studies which will further future generations knowledge of the gene, syndromes and interventions. Because of SWAN Pearl took part in a study on Deciphering Developmental Delay, and because of that we have a genetic answer to her difficulties. Pearl has a mutation on GNA01 which has spontaneously occurred and was never tested for previously as she displayed different features to others with the condition (go Pearlie go!). This may help us learn how genes change, widen our awareness of what this particular gene is responsible for and help the Pearls of the future.

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