Wednesday, 27 April 2016

Exciting Times Ahead for Undiagnosed Children

This time last year I was driving around the city trying to Fed-Ex blood samples to America. We’d had a bit of a palaver trying to get the blood – the hospital experienced at getting blood from tiny veins wasn’t the same hospital that issued the blood forms and requested the bloods. When the second hospital finally agreed to take the bloods though they wouldn’t let me leave with them explaining they had to be processed in their own lab.  The thing is, if they’d been able to do the specific genome sequencing that these bloods were destined for, then we wouldn’t be in the position of having to courier blood to America in the first place. 
It took a lot of phone calls and reasoning and patience to finally get them to agree to courier the bloods back to the initial hospital. However, the blood needed to be sent with reams and reams of paperwork and forms.  Where were the forms?  In my car!!! So I had to drive to the first hospital with the forms to meet the blood there, reunite them with the paperwork before they could finally wing their way to America. 


If you’re wondering – the process of getting the blood was also hideously stressful and involved me and a nurse pining Hugh down whilst he screamed and I desperately sang ‘row, row, row your boat’ whilst a nurse dug around in his teeny veins desperately trying to extract 7 millilitres. He was bruised and angry, I was sweaty and exhausted and I’m sure the nurses were glad to finally see the back of us after the horrendously long and complicated ordeal!


Why am I mentioning this whole ridiculous circus?  Well, it’s Undiagnosed Children’s day on 29th April and SWANUK, a project which supports families of children living with undiagnosed conditions, have asked us parents and carers to help raise awareness by looking back to where we were this time last year and what our hopes are for the future.


Well, this time last year, despite the ordeal of getting the blood to America, I was exceptionally hopeful that we might finally be able to find an answer as to why Hugh has so many challenges. We’d been enrolled on a research study over there which sequenced DNA at various breakpoints on the chromosomes with the aim of identifying the specific missing or broken gene or genetic abnormality that had caused Hugh’s issues.  They were fairly confident they’d find the answer within six months.  Hugh’s on a research study here in the UK too and last March our geneticist had told me we could expect an answer within the year.  I naturally assumed that by now we’d know for sure – that we’d have a sequence of little letters and numbers which, although meaningless to many, would explain exactly what had happened when Hugh was just a growing and developing collection of cells in my womb, to cause such profound learning difficulties and complex health needs. 
6 years old and still no diagnosis ...
Yet a year later, we are still none the wiser. Despite many of my friends getting results through the DDD study (Deciphering Developmental Disorders) we have heard nothing.  And the DGAP study(Developmental Genome Anatomy Project) have hit a stumbling block – what they’ve discovered is not what they had expected to find and it doesn’t quite make sense, so they need to do more research to see what this means for us.

I am not naïve enough to think that knowing the cause of Hugh’s problems would lead us to a cure.  I know that Hugh is Hugh and no diagnosis will change that.  I had hoped to know for certain that it wasn’t an inherited condition that could be passed on to future generations, whether that be children of my own, grand children or nieces and nephews.  Without a diagnosis, that is still uncertain.  I had also hoped that we might find someone, somewhere with a similar genetic abnormality that could give us an insight into, but particularly hope for, the future. 


Whilst I admit that I am disheartened to still not have our ‘answer’, I am still filled with hope for the future.  Not specifically for Hugh’s future, but for the future of undiagnosed children, as things are really changing and gathering momentum. 


When Hugh was born in 2010 I didn’t know ‘undiagnosed’ was a real thing – I genuinely thought we were the only people in the world in that position. 


A year later Genetic Alliance took over the SWAN UK project (Syndrome Without a Name) and used Big Lottery funding to become the only specialist support available in the UK for families of children and young people with undiagnosed genetic conditions. 


Fast forward five years and we now have:


  • Undiagnosed Children’s Day: A nationwide annual awareness day aimed at raising awareness of undiagnosed genetic conditions and funds for SWAN UK: – this year, our 4th Undiagnosed Children’s Day, is on Friday 29th April.  Last year we raised £18,917! Can we make it more this year?
Donate: Text- SWAN11 (amount) to 70070




  • Larissa Kerecuk
    The UK’s First Rare Disease Centre at Birmingham Children’s Hospital – led by the formidable Larissa Kerecuk, a consultant paediatric nephrologist, Birmingham Children’s Hospital are currently in the process of creating the first holistic Paediatric Rare Disease Centre where multi-disciplinary and multi-speciality rare disease clinics will take place with coordination of care, peer support and better access to research, information and treatment.  What this means is, that rather than traveling to numerous hospitals to see various consultants, children with undiagnosed and rare conditions will see all the specialists under one roof.


  • Two Rare Disease and Genetics Nurses – also funded by Roald Dahl’s Marvellous Children’s Charity, these two key nursing roles, based at Birmingham Children’s hospital and linked to the new rare disease centre, will be recruiting patients with undiagnosed conditions to the pioneering 100,000 Genomes Project, which is aiming to develop a new genomic medicine service in the NHS – transforming the way people are cared for.  They will also offer vital support to families with conditions without a firm diagnosis and work on setting up the country’s first SWAN (Syndrome without a Name) clinics.  


  • The first SWAN Clinic took place at Birmingham Children’s hospital on 20th April. This was the first of many SWAN clinics held at the hospital and will ensure that patients with undiagnosed conditions have access to the latest genetic research and a coordinated care plan.  Eventually these will be carried out in the purpose built rare disease centre. 


SWAN UK have a ‘Big Ambition’ – that every one of the 6000 children born each year with a Syndrome Without A Name have access to the support they need, when they need it. 


Just 6 years ago when Hugh was born SWAN UK didn’t exist.

I didn’t know there was anyone else in the world searching for a diagnosis, like we were. 

I felt scared and alone.


Now there is a vast network changing the future of care and support for those without a diagnosis; an army fighting to ensure that those 6000 children will have the support they deserve.  


SWAN UK is making big changes.

No undiagnosed child should have to fight for care like Hugh did. 

No family should feel isolated.


There really are exciting times ahead.
Come and join in the fun at Birmingham Children's Hospital and help celebrate Undiagnosed Children's Day on Saturday 30th April 2016:

Friday, 25 March 2016

Living in Limbo

This is the first of two posts written to celebrate Undiagnosed Children's Day on April 29th and raise awareness of SWAN UK (Syndromes Without A Name) which supports families of children living with undiagnosed conditions.

            Pronunciation: /ˈlɪmbəʊ/
            An uncertain period of awaiting a decision or resolution; an intermediate state or condition
           Synonyms: unfinished, incomplete

In the early days, when Hugh’s challenges and difficulties were becoming more and more apparent, I’d take him to the doctor with each individual symptom and expect a solution. 
·        He vomited a lot – he had tests and we started treatment for reflux. 
·      His skin was red and sore – we were given cream for eczema, began investigations for milk allergies and tried new milk substitutes.
Reflux, eczema, allergies … these were all ‘real’ things.  They presented with symptoms, they were investigated, we were given a name I could google/research and a treatment to (supposedly) fix it.  Job done.

So when Hugh started showing signs of a developmental delay and it was apparent that his head was smaller than it should be, I similarly expected tests, a name and a treatment.  Initially this seemed to be the case – Hugh had x-rays, ultrasounds, an MRI and blood tests.  Labels were bandied about: microcephaly, global developmental delay … but there was no treatment, no pill to take, or cream to apply or quick fix to make this better. 

And the labels we were given turned out to be mere descriptions of symptoms, not causes. 
·         Microcephaly – a small head
·      Global Developmental Delay – Not reaching two or more milestones in all areas of development

Why though? Why?!!! source
These labels told us nothing that wasn’t already fairly obvious.  They didn’t explain what had caused Hugh’s difficulties or how it had happened.

So like an impatient child, I kept asking ‘why?’

And, perhaps naïvely, I expected an answer; a reason.

Initially I thought having a reason would give us a way to ‘fix’ things, and indeed if his microcephaly had been because his skull had fused too early, a possibility that was investigated, then there would have been a treatment that could have helped. However, as time progressed and any obvious causes were ruled out, it became apparent that we wouldn’t be curing anything Hugh had, it would simply be a matter of managing his symptoms and helping him develop to the best of his ability.

When that crushing realisation sank in, the need for a diagnosis was more about finding out what the future might hold by finding others that had travelled that path before.  A diagnosis, I felt, would unite us with other families all facing similar worries and challenges.

I spent many hours on the internet, reading medical journals and googling symptoms, in some vain attempt to diagnose Hugh myself. Hugh had countless tests and visited various consultants.  He had numerous examinations and had photos sent to specialists in other countries.  I waited anxiously for test results, I endlessly phoned secretaries and spent hours waiting for return phone calls and hospital letters. None of which provided us with an answer. 

I lived in a strange kind of limbo. Despite Hugh’s obvious difficulties, I wouldn’t apply for Disability Living Allowance.  The thing is, I wasn’t even sure if he was ‘really’ disabled as we didn’t have a diagnosis.  Without a diagnosis I wasn’t really sure where we belonged, I didn’t feel that we fitted in anywhere. I knew we didn’t fit in at regular playgroups, but when I telephoned to enquire about a local group for disabled children, I explained I wasn’t sure if Hugh was actually ‘disabled enough’ to go. It was both a relief and a punch to the stomach to realise it was, in fact, the perfect place for him to be. 

I assumed we were the only ones living in this strange kind of no-man’s land where we knew something was wrong but we didn’t know what. Initially I didn’t realise there were other people out there also searching for a diagnosis.  It would have saved me many hours of heartache and loneliness and desperation if that had been mentioned to me in the early days.

We are actually closer to a diagnosis than most other children with a Syndrome Without A Name (SWAN) in that Hugh has a confirmed chromosome abnormality.  What that tells us is that we know his condition is something he was born with; we know it is genetic.  What we don’t know is which specific genes or chromosomes have caused his difficulties (it’s like trying to find one misspelt word in a huge book apparently).  Nor do we know if he has inherited it from us or if it is something that happened randomly and spontaneously while his cells were dividing.  So despite having some answers we are still no further forward. 

The thing about searching for, testing for, waiting for a diagnosis is that you expect there to be an end; a point at which you get that diagnosis.  I thought that this period of uncertainty, this limbo, would just be a brief pause on the journey before our final destination.  I thought that the diagnosis was just around the corner – the next day, the next appointment, the next week, the next phone-call, the next test, the next letter. But it never arrived. You can’t live on high alert like that forever though and at some point, I stopped waiting.  I’ve not stopped hoping though, I just don’t find my heart racing at every hospital letter and I don’t ring the geneticist every month.  I still Google occasionally and Hugh’s enrolled on a couple of research studies here and in The States and I chase them up every now and then.  I’m hopeful sometime soon there’ll be a diagnosis but I’m no longer naïve enough to think it’ll change a great deal in our immediate future.

All Aboard!!! source

I guess all the journeys to diagnosis are different; some take longer than others, some start heading in one direction but end up somewhere else and some arrive at the station only to find out that they’re in the wrong place entirely and have to start their journey again!  We’re 6 years into our Journey to Diagnosis but I’ve given up worrying about what the weather will be like when we get there, for now we’re just enjoying the ride on the Limbo Train. 

Thursday, 24 March 2016

Happy 6th Birthday Happy Little Hugh

From here: 

Through 6 years of sleepless nights,
Through 6 years of God knows how many ambulance rides,
Through 6 years of the kind of worry I could never have dreamed of.

Through 6 years of hospital admissions,
Through 6 years of tubes and monitors and alarms
Through 6 years of tears and terror and fear.

There were 6 years of laughter
There were 6 years of joy,
There were 6 years of happiness,
And 6 years of love.

For every time I have cried, I have laughed a thousand times more.
For every second of fear I felt, you have given me an hour of joy.

I love you.
All the way to the moon and the stars and all the way back again.

To here: 

     Happy 6th birthday my crazy haired, morning hating, pink balloon loving, Happy Little Hugh xxx