Category: Syndromes without a name

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”.

Balance.

I had perceptions of special needs parents before I became one.  So strong, so calm.

Genetically programmed to be fairly pragmatic about life, I generally trot along on an even keel with the help of Citalopram and HRT (no I’m not that old, yes it was early).

Apart from having a constant obsession with Pearl’s bowel habits (possibly tmi-let’s just say for her own dignity that chronic constipation is a thing for girls like Pearl and it’s horrible) it’s fair to say our life has rebalanced to a new abnormal, normal.

True, The Glory asks me 100 times a day if her hair is alright, but she is 17.

Also Rab told me he saw a man walking a tortoise on the way to school yesterday, and although I wondered if I was dreaming, I am prepared to believe him.  He is on the spectrum and honesty is kind of his thing.

When Rab was out of school for 11 months having meltdowns and suicidal ideation (more of this in a future blog) our abnormal normal was shaken quite badly. We found the right school, he settled in, we picked ourselves, dusted ourselves off and…well started all over again.

During a regular appointment The Orthopaedic Surgeon blithely mentioned “keeping Pearl on her feet for as long as possible”.  I didn’t actually realise growth and development may lead to a future decrease in mobility.  I was thrown off course but again recalibrated.

Parents and carers of children with physical, medical and learning difficulties are among the most emotionally resilient people I know. Have to be.  We live in the moment, we really do not know what tomorrow may bring.  I took part in a Study  by the local University run by the lovely Dr Katherine Runswick Cole.  Investigating how parents of children with additional needs developed emotional resilience in their offspring, it was very interesting.  First question, “what helps you as parent maintain a sense of yourself when parenting a child with additional needs?”.  Deep thought on my part, “Having my hair cut at Toni & Guy”.  Truly.  Bless Katherine.  As we chatted over coffee later it transpired that she too had a child with additional needs.  What did she do to maintain her sense of self?  Went to Uni got a degree and followed it with a Doctorate.  Hmm.  Hidden shallows-that’s me.

Emotional reliance is essential to us as a family and I feel is an absolute prerequisite for children to develop good mental health.  Pearl has it in spades-she came with it.  The other two, have had to develop it as well.

Thus far frankly, a long preamble about the thing that nearly broke me.

IMG_3978

My washing machine.

Pearl drools, constantly.  She is doubly incontinent.  Hate that phrase.  Prefer “working towards continence”.  As a result I do a LOT of washing.  Three loads a day at least, sometimes six.  Care for the Family suggests that bringing up a disabled child costs significantly more than bringing up a ‘typical’ one.  In our family that money goes on washing machines. (Oh and the Toni & Guy bill).  We average a new one every two years.

Fortunately we have a wonderful local family firm who fix and sell machines.  Bob has come out on many an occasion to fix an ailing washer and before now to “just get me any model and plumb it in before this evening please”

Gentle Reader, I can endure bad medical news, I can fight local authorities, I can speak to MPs, I can even leave the house looking like a reasonable approximation of a human being, but remove my washing machine and I am a broken woman. I wish I was joking.

Last week I was working on some admin when the washer started making an odd noise.  An error code appeared.  I googled and fixed and ran another programme . It worked.  Then it didn’t work, then it locked itself with 8kg of wet washing inside.  I may have cried.  Bob arrived  (I have him on speed dial) it worked.  Bob left  .It stopped working.  It carried on glitching for two days and then, as I was about to phone the manufacturer, spontaneously healed itself.  Clearly a software issue, said Mr PJ, Bob agreed.  I suspect it was possessed.

I began to loose all sense of reason.  The feelings I usually bat away “I can’t do this””I’m a rubbish mother/wife/human being”, “I’ll just run away and join the circus” (my back up plan incidentally, along with two friends,we have names and acts already chosen). Feelings which would more reasonably be linked to having two children with individual needs and one sitting AS levels, all became attached to the washing machine. It is ridiculous, I know it’s ridiculous.

Did you know when the ravens leave the Tower of London it will fall down?  True Story.  In our house when the washing machine breaks down the family crumbles.  More accurately I go under and try to drag everyone down with me.  I am considering having a plumbed in back up washing machine.  We may have to build an extension, but it would be worth it surely?

I remind myself that before the advent of Pearl I had a life, skills, a degree, a Profession for goodness sake.

It has all come down to this. My good mental health depends on good hair and a working washing machine.

Hidden shallows, my friends, hidden shallows.

PS. If I’m alone in this, keep it to yourselves or the next blog will be from the Big Top.

MN-blognetwork-104-final

SwanUK

 

 

 

 

 

 

 

 

 

 

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.

FullSizeRender-1 2

 

 

 

 

 

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.

SWAN_UCD_Email_Footer

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

Follow this blog on http://www.thewrongkindofsnow.wordpress.com

 

 

 

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.

 

FullSizeRender-2

 

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.

Testing,testing…..

In which I resist searching for a diagnosis, and a small person resolutely refuses to be categorised.

Previously in The Wrong Kind of Snow….

Problems were denied, therapy was applied, and cunning and well articulated arguments held off the Paediatricians desire for further assessments until Pearl was two….

It happened. Pearl’s second birthday came, and she didn’t wake up walking. Or weight bearing. Or actually sitting up particularly convincingly. Poor show, my girl, poor show. Despite my assertiveness I had only postponed the inevitable, there was something wrong that probably needed a proper name.

We do like labelling things,us humans, don’t we? Let’s face it, life is unexpected and confusing. In the face of chaos, to control our fears, we label.

Objects have names which rarely relate to function, but allow us to slot them neatly into a category.

Our forefathers set off on expeditions to collect, label and categorise animal, vegetable and mineral.

In this ,we set out to both control our universe, and also assert authority over it. If that is the aim we really ought to get over ourselves.

Science seeks explanations, and that is the main point, it seems to me, of diagnosis.  Categorize, explain and understand. This is a noble aim.

I have spent my whole life fleeing from labels imposed by others. The Frumpy One, The Studious One, The Serious One, The Christian One , I just wanted to be appreciated for myself, that was all. I was not keen to have a label stuck on my girl even though it was fast becoming clear that she was “The Disabled One” Also if she had a diagnosis it confirmed that she had a problem she would not grow out of. I was not emotionally ready for what that may entail.

For the next 18 months our Paediatrician,who was nothing if not thorough, set about diagnosing the problem that was Pearl.

Ah there’s the rub. Pearl was happy, interactive, bouncy, giggly, fun.She clearly HAD problems, but she was not a problem. She was also the fittest of all of us in the house,  she rarely had a cold , and had no other medical problems.

Science and the NHS required me to put my beautiful, happy, healthy child through a series of invasive tests, while I read up on all the possibilities and shared them all with Mr Pearlie J,  because apparently ‘A Problem Shared is a Problem Halved’. (Actually ‘Misery Loves Company’)

Pearl had MRI scans (plural) blood tests (ditto), a spinal tap and a muscle biopsy. Parts of our child flew around the country  (and world too apparently) while we waited. And waited. AND waited.

You see for some tests they give you the diagnostic possibilities and then leave you 8 weeks to worry yourself into the ground. The prognosis of these various conditions were quite poor and the future looked, quite frankly,terrifying.Rather than having a child who was slow and would overcome difficulties in time, we had one who was ireedemably broken and would never live independantly.

The Professionals at this stage are happy, and slightly excited at being in control and possibly finding something rare to show students. Perhaps they can get a paper out of it?  The Scientists are busy analysing and everyone takes their eyes off the parents. No one thinks to ask how you feel about this, as you settle in for the long wait.

If I’d felt slightly ambivalent about testing the situation was compounded by the Paediatricians explanation for the first test.

“We will test her for Prader Willi Syndrome”

Me (unable to keep my big professional mouth shut)”Oh. But (apart from having no off switch when it comes to eating,in which my whole family has PWS) she doesn’t display any of the diagnostic criteria”

“No’

Me (unconvinced)”I don’t think she has Prader Willi. Do you think she has Prader Willi?”

“No, probably not”

Me(becoming exasperated but unwilling to either show it or give up)”So why do we need to test her?”

“It’s important to tick all the boxes”

This I feel is Science speak for “I need to prove I’ve not been clinically negligent”I personally felt it a waste of time and the tax payers money,however I was not the Professional in this situation but only the parent.

After 8 weeks we had a two page print out of what Pearl did not have.

After 6 months we saw a Geneticist who repeated some of these as she thought Pearl may have Cerebellar damage (she didn’t) or Angelmann’s Syndrome (nope).

The Neurologist took some scans (MRI) as I was convinced Pearl had Cerebral Palsy (no) and cut a chunk out of her leg to see if she had any metabolic disorders (also no). Pearl also had some cerebro spinal fluid removed to see, well honestly I can’t remember what, but it was all normal.

FullSizeRender-2
Some labels are better than others….

What happens if you don’t have a diagnosis? First of all it’s not at all rare. Check out the Syndrome without a name (SWAN) website and you’ll see lots of fabulous undiagnosed individuals.

Secondly it’s not true to say you won’t get therapy or funding.In the U.K. many, many children given a  ‘non’ diagnosis of Global Developmental Delay (science-speak for, we haven’t a clue, in my experience) receive all the therapy they need. No diagnosis does not mean the issues are any less real.

Following this the highly specialist Consultants lose interest and put you on long term review. That leaves you,the therapists and the Paediatrician to find your way.

Friends and family (and those delightful inquisitive people you meet in the supermarket) find it very disquieting. She must have a diagnosis ! Look at her !  This is usually followed by “that must be so hard for you not knowing what’s wrong” head tilt.

I anxiously hug my guilty secret.I’m pleased. No diagnosis means no prognosis good or bad.She may achieve, she could speak, she could walk. Pearl is just Pearl and that’s that.

I never liked labels much anyway.