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.

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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.

 

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These boots.

In which my belief that the right footwear is the answer to everything is challenged.

Previously gentle reader, you left us on the wrong side of a two way mirror, enjoying all the benefits of early intervention.

All parents of  children with additional needs will know about time management. As well as the Child Development centre, we were fielding dozens of other appointments, sometimes on the same week, by a range of services, apparently unable to communicate with each other. Over and over again, the exact same questions. Not irritating at all. As I wanted to help the youngest, and as I had been The Professional on the other side of the clip board just a few months previously, I complied with all of them.

Have you ever read The Special Parents Handbook? Go and buy a copy now. Yvonne Newbold points out that the people sending the appointment are Public Servants. We are the public. They work for us. We can choose which appointments are beneficial, change times and ensure we don’t become overwhelmed.(Two appointments in one week may be doable, two in one day. No. Just no).

The latest appointment involved feet.I love boots and am a firm believer that with the right footwear anything is possible.The Physiotherapist must have been of the same mind as she gave Pearl a pair of the sweetest little white boots with pink laces. (A school mum thought they were designer) They were Piedro boots, and as well as being cute enabled Pearl to pull herself to standing. The appointment,and the department that gave us these beauties, has proved to be the bane of my life.

It started well. A fabulous, kind and experienced man, who turned out to be an Orthotist measured Pearl, looked at her gait, and discussed planning forward with her Physio. The boots arrived. They worked. In my mind now, Orthotics was a department that believed in multidisciplinary working, was patient centred and provided killer footwear. How little I knew.

At this point, as I have found so often,there was very little explanation of the service,what it was for and what else it provided. Every eight weeks or so, we were called in, measured, and new shoes were ordered. They were different colours! They were cute! We had choice! I loved it.

Half a dozen pairs of shoes in, Orthotist and Physio exchanged glances and said Pearl would benefit from  splints. For some reason, I assumed these would give extra support, help Pearl learn to walk and then be discarded. Taking Forrest Gump as my reference (Run Pearlie, run ) I imagined one day soon she’d walk out of them and into pair of ordinary shoes. (Insert hollow laugh here)

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For the uninitiated here follows a description of fitting a child with Learning Difficulties for AFOs (splints).

Mother enters Stage Left with child in buggy. Child is interested and curious, she knows the staff and the room has toys in. She wants to crawl around and explore. A new Physio enters Stage Right. The Orthotist bends the child’s wonky foot into a right angle with her ankle. The child is not keen on this turn of events.The new Physio waves toys and books in front of child. The child is unimpressed, but happier when the Orthotist releases her foot. Unfortunately he then returns with a metal bar and wet bandages for casting. Holding her foot at the correct angle, he skilfully wraps her foot below the knee.Mother is fascinated, child less so. As the plaster sets she begins to scream,the Physio waves a book,Mother sings  Twinkle twinkle little star (!?!) with a rising tone of panic. Orthotist cuts off  set cast (more screaming, more singing) and releases the little foot.Child is now crying real fat tears, and buggy, child and mother are covered in Plaster of Paris,as is most of the room.

I would love to say that being cast for splints gets easier with familiarity. I would love to say that.

Let’s go back to the first splint experience. Following Pearl shedding enough tears to wash the Plaster right back to Paris, we got to choose a pattern for the splints.This was more like it.  Design is much more my kind of thing.

Two weeks later we return.The lovely, experienced Orthotist is poorly and someone is covering.This someone doesn’t like me and has decided  I am a flippant idiot. He is very serious. I am very nervous. He shows me how to put on the splint, and tells me to try. I am shaking slightly. He raises his voice.

“No, no,no not like that”

I am a Professional woman, a mother of three in her late thirties. I am not used to being told off like a naughty child.It makes me shake more. I can’t get the damn thing on her foot. Once it is on and I have been suitably humiliated, I am told that I will have to go and buy shoes to go over the splint. Pearl only has one splint,but she can’t weight bear in it without shoes.

I enter Clarks (other shoe shops are available) I am by now in a bit of a state.I take my ticket and wait my turn.The assistant comes to measure Pearl. I explain.The woman looks at Pearl, and  is afraid. She a grown woman is afraid of my non toddling, toddler and her splint.

“I think you will have to make an appointment and come back”

Suddenly shaken back by her reaction into a state of near aggressive assertiveness, I refind my voice .

“Look I am finding this very difficult and I am very upset.She needs shoes, you fit shoes and we will work out together how to do this.The clinic is local and she is not going to be the only child who comes in here needing splints”

Wisely the woman gets a general grip and helps. We have to buy two pairs of shoes-TWO PAIRS, because now Pearl has two different sized feet.It’s alright according to the shop,as they will give us a discount which means that the pair will ONLY come to £50.

So my lovelies what can we learn from this experience?

Mothers and Others

Carry tissues.

Wear waterproof mascara.

 Professionals

Support parents when medical equipment that visibly separates their child from their cohort is required. It may be clever scientifically, it may be part of your working life, but the fact it has a pretty pattern on it does not make it easier.

Start working on training local shoe fitters.

Advise parents on the right style of shoe to go over splints.

Tell them the why.“We are fitting splints in order to enable her to have a straight foot and a flat base for standing.They are also needed to ensure her foot does not become twisted as it grows and to encourage a good muscle stretch”

Tell them the when.”she will need refitting as she grows and may need to wear them for extra support all her adult life, we will keep reviewing and keep you informed”

Tell them the how.”When she needs new splints speak to her physio”or “we will review in 8 weeks”or “here is our number phone when she needs an appointment”

Keep your interpersonal skills honed.

Oh (and a personal bugbear) link up with a medical charity working in developing countries so that splints,shoes and gaiters that are often barely worn can be reused and not go to landfill.

Thank you.

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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.

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“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.

 

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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”.

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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.

 

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.

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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.

As far as this family is concerned though, Pearl is Pearl and that’s that.

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Find out more about SWAN on www.undiagnosed.org.

Share the news about Undiagnosed Children’s Day on twitter #undiagnosed.

Donate by texting SWAN11 £3 (or any amount up to £10) to 70070

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On a scale of one to ten…..

It’s time to step away from the unfolding story of a wobbly girl and her mildly eccentric brother and talk a bit about feelings.

I am a literary snob and have always hated greeting cards poems. Unfortunately what your midwife fails to tell you is that when you become a mother, they replace the rational part of your brain with mush.

I had already spent my pre-Pearl motherhood opening trite birthday cards, reading the previously despised verses holding them to my tender bosom, while sobbing “so true” If these emotions run riot when you have a “typical” child all I can say to you Extra Special Parents embarking on this journey is “if you have tears prepare to shed them now”

Three years into our journey, during a very low period which  characteristically involved a fight with the authorities to give our daughter equality of opportunity with her peers, you find me,  sitting quietly on the sofa,  having put down the phone on the latest argument. Shaking slightly and near to tears I hear an awful raw keening sound.  This sounds like an animal, caught in a trap, in pain, who had given up hope of rescue. As I begin to rock gently I realise the noise is me.I have honestly never heard a sound like it and as I sit, completely and horribly in the moment, I take apart every single fight, and pain, and triumph and struggle that my precious small girl and I had endured. Clearly I had been fighting for her so hard, and working so tirelessly to remain positive that I had squashed all this excruciating emotion down, down, down and there it all suddenly was.

As experiences go this is most definitely not one I would recommend- and why on earth would I want to share it with you? I have experienced emotions while embracing our new normal (or as a friend and I always say “living the dream”) which are dark,disturbing and hard to admit to. If on your parenting journey you have experienced some of these, please know you are not alone.

Pearl was our ‘extra’. Mr PJ has always wanted a huge family, but then to be fair he doesn’t have to give birth. We had fun practicing making Pearl, but after a year nothing had happened and a more permanent job prospect was looming. I was just about to suggest we stopped trying and I went back to work when I fell pregnant.

When Pearl arrived and it became clear she was entirely herself, along with the fear and panic, I had a few questions. Why did we have her?  We had two children already, I could have worked-what were we thinking?  What was Mr PJ thinking?

I was a Christian, was this my destiny? Would Pearl be healed?  Did God mean this to happen?  Were we being taught something?  Was there a God, or was everything totally random?

I was embarrassed. Embarrassed to have ‘failed’ by giving birth to something that wasn’t ‘perfect’.

I was worried about the future. What would people say?  How would they treat Pearl? Would she talk, walk, feed herself, be toilet trained?

I was uncomfortable, I did not want to be a Special Needs mum. I wasn’t the type. I was the helper, not the helped.

I was regularly hit by waves of despair so intense I felt they would surely wash me away.

Mainly I felt guilty, guilty for feeling all these feelings. Guilty for making this child who was finding the simplest things so difficult, and guilty for changing the family dynamic so dramatically (oh how I underestimated my wonderful family)

I was completely awash with emotion.

 

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At this point nobody asked Mr PJ and myself how we were feeling.

No professionals checked,they were too busy diagnosing.

No friends asked , I think they were worried they wouldn’t cope with the answer.

Several people told us how we felt.

“What a good job you’re a Speech Therapist, you’ll know what to do’

“God only gives special children to special people.”

“Consider it pure joy brothers when you face trials of any kind” Pure joy!  Thanks St. Paul-I’ll give it my best shot.

An older woman of my acquaintance  said “But you don’t regret having her do you?” Never, NEVER ask a parent struggling in the early days with therapists, appointments, tests, NEVER ask them this question.  You don’t want to know the answer and actually neither do they.

“I expect you’re grieving the child you didn’t have?”  No actually, I was grieving the difficulties my beautiful beloved Pearl was facing to do the simplest of things, and the amount of horrid appointments and needles and knives she was facing.

So you discover me overwhelmed by feelings of every kind, bombarded by the opinions of the well meaning, and exhausted by sleepless nights and fights with the authorities. Unable to share these emotions with my amazing best friend/husband/partner in crime- they were too dark and dreadful- and fighting smilingly on. And that is how I came to find a keening animal inside me, and that is when I realised,that I had to be honest, with myself at least, about the trials of those dark days.

With the benefit of nearly a decades hindsight, I can tell you these feelings come and go. Some disappear altogether to be replaced by something else. Life becomes more usual, and positive happy feelings come creeping back. From time to time, a form you fill in, or a look someone gives you, or another family sadness will surprise you into re-experiencing them all again.  When this happens people I have some advice. Don’t listen to the people who think you should have got over all that by now. Don’t try to do too much. Be kind to yourself. Remember, coffee, cake, wine , chocolate,comedy.  Whatever it takes.  Pick yourself up dust yourself off and…well you know the rest.

When Pearl and I are curled upon my bed at story time, or on the sofa with a biscuit; I often say “shall I tell you a story about you?” This child has the highest level of self esteem in the whole family. Of course she wants to hear this story-who wouldn’t?

Once upon a time there was a Mummy and a Daddy and The Glory and a Rab. Daddy looked around and said-“I just don’t think our family is finished yet” and then Mummy found out there was a baby growing in her tummy. One day Mummy said-I think this baby is going to be born, and went down stairs to the playroom-and what do you think happened next?Pearl was born and she was so beautiful, and we looked at her and we knew our family was complete. Pearl was what we had been waiting for.

And dear reader,we lived emotionally ever after.