Where are the 98%? #Undiagnosed

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Swan UK – Syndromes without a name – supports families with undiagnosed children. Currently Swan UK has a membership of around 2000 families – this is fantastic and the group is growing. However we know that around 6000 children are born every year who remain undiagnosed, which equates to over 100,000 children in the UK.

You can help us to find the 98% – those families currently walking this journey alone, who are unaware of the support available to them.

Why do we want to find them?

Do you remember being pregnant for the first time? That sense of joy, being overwhelmed and excited all at the same time. Do you recall how it felt to meet up with other pregnant ladies / expectant fathers at the ante natal classes, or to talk to those already with kids – the comfort in knowing that it is normal to feel exhausted, talking to others who have experienced the joy of the first kicks, the worry that comes with parenting.

Think back to when your baby was born – looking to the midwife for reassurance, googling the tiniest symptom for information, checking their weight against the little red book – the baby bible. The first day at nursery or school when there was not a dry eye at the gate – all of the parents in the same position.

Having a reference group is really important, others who can empathise and be around to support through the good and the bad.

The loneliness of being Undiagnosed

Now imagine that journey of pregnancy, being a first time parent, seeing your child grow but without that reference group around you. Imagine being the only one who was or has ever been pregnant. Imagine looking to the midwife for reassurance and instead getting a puzzled look. Imagine standing alone outside the school gate on the first day.

This is how it felt to us before we found Swan UK. We were alone, isolated and desperately searching for answers. We still don’t have many answers but we do have place to go, a safe haven of others who understand how it feels. A group who face similar and altogether different challenges but who support each other through every step and together celebrate the good times.

A previous blog describes how it feels to remain undiagnosed:https://theworldofgorgeousgrace.com/2017/04/24/welcome-to-no-mans-land-undiagnosed-2

How Can Swan help

No child or parents journey is ever the same and each and every Swan is unique, however the value of having a virtual group around you, for support if not always answers cannot be overestimated.

Swan UK offers a range of ways to support families:

  • An active Facebook page – the source of a wealth of knowledge and 24/7 support from others in the network
  • Advice on genetic testing and the latest parliamentary as well as medical updates
  • Regional groups – both virtual and real life get togethers so we can meet others in a similar position
  • Funded days out that would otherwise be unobtainable to most families – including support for those who need practical help on the day
  • Campaigning to raise awareness and ensuring the undiagnosed and not forgotten

Undiagnosed Children’s Day 2017:

This years Undiagnosed Children’s Day is scheduled for 28th April and we would like you to help us find the missing 98%. Please share our blogs and stories on social media and help to find those who do not yet know how we can help.

How to Donate:

If you would like to make a donation to Swan UK you can do this via Just Giving or Virgin Money Giving or text SWAN11 plus the amount (up to £10) to 70070.

Delivering a Diagnosis

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For the 6000+ children a year born with an undiagnosed genetic condition, and their families, a long awaited diagnosis can be both a positive and negative experience. Seeking the elusive unifying diagnosis that often ties together a host of conditions, is a long and difficult journey – combining the hope that diagnosis may bring, with the fear of what it may mean.

In recent months, many families have been receiving a diagnosis through their genetics teams – the DDD study, 100,000 genomes and incredible genetics progress is giving more and more families the answers they seek. However the experience of those on the receiving end is varied, sometimes it is handled brilliantly but occasionally the way news is delivered is not ideal.

Examples of this include a letter landing on the doorstep with news of a diagnosis. Imagine waiting 5+ years for answers and to open a letter in the middle of breakfast with what is, to you, monumental news. On occasion, an invite to an unexpected appointment with the genetics team, with no explanation and weeks away, which results in high levels of tension and anticipation. Even attendance at a routine appointment with news delivered out of the blue.

In our case, we received such a letter and called to ask if it was a significant appointment or a routine review. We were told the latter, arrived at the appointment with 2 children in tow only to find that there was indeed ‘big news’ – this was broken to us whilst we fought to keep GG away from the taps given her obsession with water. As it turns out, the diagnosis found was not significant for GG you can read about the ‘Almost Diagnosis’ here:The ‘Almost’ Diagnosis

So, based on our experience and feedback from others in the SWAN world, here are a few pointers to those delivering news of a diagnosis to families:

  • Please pick up the phone! Let us know that something has been found that may or may not be of significance and that we should meet to discuss
  • Offer an appointment in a timely manner so that we are not waiting weeks and months for really important news
  • Ensure you provide as much information as possible about the diagnosis and what it could mean – we will google it anyway, so we value you being honest about the implications
  • Be clear if there are further steps to confirm the diagnosis and what happens next

We know that the science is fascinating to you and the progress in your field is incredible, but for us, this is about our child, our family, being sensitive to the impact such news can have is really critical. We also recognise you are incredibly busy and not best placed to provide post appointment support, but please do point families in the direction of those that can help – some ideas are below.

Finally, thank you from the bottom of our hearts for working so hard to help us find answers. A diagnosis, no matter how rare, is really important to us and our children.

Further support:

If you come across families that might benefit from extra support you can point them in the direction of:

SWAN UK – www.undiagnosed.co.uk

Unique – http://www.rarechromo.co.uk

Rare disease UK – http://www.raredisease.org.uk

IF THIS WERE HAPPENING TO MAINSTREAM KIDS, THERE WOULD BE UPROAR

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Imagine a world where your child does not have their basic needs met at school. You turn up one day and the staff explain, very politely and regrettably, that they cannot do what your child needs today. Would you smile back? Say that’s okay? Leave your child anyway and head off to home / work as normal? This is what the parents of disabled kids are expected to do every day.

Imagine that your child is told to stop communicating. The books are all removed from the library. The next day, there are no pens. You are reassured that the pens will be provided but only once every 6 weeks. The school does not have budget for your child to be able to communicate or learn. Core equipment, an eye gaze which allows children to communicate through eye movements, or an iPad which provides a voice for so many – not funded because there is no money.

Just imagine your child after lunch being told to sit in a corner and not take part in the class. Observe, yes. Take part, no chance. You see, there is only funding for a part time 1-2-1. Even if your child happens to have medical challenges or a lack of safety awareness, well we will take our chances rather than overspend. After all, it’s okay in the morning and that will have to be good enough.

Now, your child’s feet have grown. Clarks is available to you (other shoe shops are available) but not for at least 6 weeks. You have to squeeze your child’s feet into shoes for at least 6 weeks and by the way, you need to attend 3 appointments, all at short notice, in the middle of the day and parking costs £6 a go. Oh and be grateful you don’t have to pay for the shoes.

Imagine that you start work at 8.30am and go to drop your child at breakfast club to be told that it does not exist. Not only that, but there is no childcare at all available around school hours. In the holidays you might be offered 1 day a week – school hours only of course.

Children with different abilities will have (usually after a long fight) either a statement of needs or what is now an Education, Health and Care Plan (EHCP). This outlines the needs of each child and forms a legal requirement for provision. Unfortunately, there are 2 major issues. Firstly, the true needs of a child are rarely properly documented leaving gaps. Secondly, even when the needs are documented, they are not always provided. Parents will fight for the correct provision and as a result are labelled as ‘difficult’ or ‘tiger parents’.

My daughter has an undiagnosed genetic condition – known as a Swan. (Syndromes Without a Name). I have therefore become one of the ‘difficult parents’ who is continuously fighting for the basic needs of my child to be provided. I don’t want to be difficult and neither do others, but we do want to be heard. Britain in 2016 needs to think differently and we need you to help us shout it out.

If you would like to help please feel free to RT to the following people:

@PennyMordauntMP (Minister for the Disabled)

@EHRCChair (Chair of Equalities and Human Rights Commission)

@Sajidjavid (Minister for Local Government and Communities)

@JustineGreening (Minister for Equalities)

 

Frustration, swearing and tears….

The biggest myth of all – the support for disabled children is good.  Adequate is a massive overstatement. Naively us special needs parents, anticipate that the care will we need is there. At the start – still in shock, we navigate our way through, expecting that at some point it comes together. It hasn’t happened yet.

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For us, physio was the first non-hospital based support we accessed. Not rolling, not sitting, can’t even straighten her legs, we need help. From referral to the first appointment it took 3 months. Let me say that again – 3 months. How old was GG? 6 months old. We spent one third of her precious life waiting for that first appointment.

At last the day arrived, we were optimistic, nervous but hopeful of some support. A 3 month wait and a very hassled and over worked physio spent 30 minutes with our daughter. Let me say that again – 30 minutes. After a 3 month wait. When we will see you again? The desperation in our voices, greater than in the famous song. Perhaps a month, maybe 6 weeks. Keep doing the exercises I showed you. We are flummoxed, novices, lost in a scary world with no help. Turns out that every 6 weeks would have been a dream, 4 times a year has been the average. We spend on average £1500 per year on private physio. Not everyone in the same situation can.

Weight gain is poor, solid food cannot be managed – all her peers on baby led weaning, I frankly want to swear. I do. Appropriately, Speech and language is the referral made (SALT in SEN lingo), they can help with eating. We wait for 2 months. Nothing. We self refer to a private SALT and are seen weekly for 3 months before we get an appointment. We waited 5 months. Our baby was not gaining weight and we waited 5 months for the original appointment.

Next was the Occupational Therapist (OT). We needed stuff – equipment, standing frames, special seats, advice on car seats – the physio said we needed stuff but we had to go back to the consultant for a referral. The referral was made when GG was just 2 years old. The first OT we saw was when she started school at age 4.5 years. By this point we were no longer surprised. Disappointed yes, but not surprised. In the meantime, we got stuff – we bought it from SEN sites, we researched car seats and found one that worked. Alone again.

Alone The common thread to all of these referrals was the lack of diagnosis. Every therapist asking us ‘what is the medical condition?’ – we don’t know. We have been told we may never know but we struggle to believe this. We live in the UK, post 2010, surely we will find out one day soon? More than 5 years into our journey and still no answers. It turns out that no label = more hassle. Professionals do not know how to deal with those who remain undiagnosed. Even at times told,further support will be looked at once a diagnosis is confirmed. We are in limbo.

It is incredible that we have to ask and fight for these services. Incredible that we were not referred at the first point of contact. Incredible that one therapist cannot refer to another and we have to start from scratch. Incredible that we have to justify our need for the support because we do not fit into a box.

For context, I have described 3 out of 24 non-medical touchpoints that we have or will need to access in the future. This is the reality of how unco-ordinated and under funded services are.

Out of the Box

The frustration, swearing and tears have eventually resulted in a pro-active and positive effort to make a change. 6000 children are born each year with no diagnosis. Many many more, with a diagnosis, will still suffer from the lack of co-ordination. Please support #outofthebox Out of the Box

 

#undiagnosed should not be a barrier. Please support @swan_uk who provide a lifeline to those with no diagnosis.

*Each individual therapist has tried their hardest to help. This is no way reflects on the individuals but the system. More training on #undiagnosed is needed to avoid delays in services because of a lack of a label.

Swan UK have provided a lifeline to all we have faced in the past 2 years. We need this group and funding is at a critical junction with some big grants ending. My one request is to help support Swan UK to continue running and supporting the 1000 families already signed up, as well as reaching out to the 1000s of other families battling in isolation.

If you would like to donate to support the work of SWAN UK you can do so via the Just Giving page or our Virgin Money Giving page. You can also donate by texting SWAN11 £3 (or any amount up to £10) to 70070


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LOOKING BACK, LOOKING FORWARD #UNDIAGNOSED

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A year ago, on Undiagnosed Children’s Day 2015, I took my first tentative steps into the world of Twitter Takeover for Swan UK. It was a daunting as a newbie to the world of blogging and Twitter. The overwhelming support on the day resulted in a baptism of fire as #undiagnosed started trending, and the Swan UK feed was impossible to keep up with. It was a fantastic day, knowing that so many people cared, and that we reached so many with the message that #undiagnosed remains a significant issue in the modern medical world.

I continued to blog for a couple of months and through the year, hosted a few more Twitter Takeovers, but found myself struggling to keep publishing despite continuing to write posts on a regular basis. Partly this was down to everyday life. As with all families we have experienced ups and downs, the challenge and joy of 3 young children, with the additional complexities of a child with an undiagnosed genetic condition. Add to this some challenging work situations and I found myself eager to pursue the campaigning but struggling to find a way.

In the autumn, I was thrown off course by the ‘Almost Diagnosis’ (further details in a previous blog The ‘Almost’ Diagnosis) – so close yet so far from finding out the cause of GG’s challenges. Although the ‘almost diagnosis’ is still not ruled out, we are awaiting cardiology and orthoptic reviews, (8 months after referrals were made, grrr) – it remains an unlikely outcome. The ‘Almost Diagnosis’ did however prompt a key question – we know that GG suffers from a rare disease so what difference would a diagnosis make?

I accept that lots of things would not be any different – the constant seizure watch that has me sleeping with one eye open, focused on the video monitor. The addition of another issue to the list – uneven leg length. The myriad of appointments, the challenge of getting into school to meet with teachers and therapists and the increasing behavioural challenges to manage. Please don’t get me started on the battles to get GG into out of school activities – so simple for the majority and yet so hard to find acceptance for GG.

However some things would be different. The lack of diagnosis and associated lack of prognosis means that we did not anticipate a leg length issue, we were not looking for it, a diagnosis may well have told us what to watch for. The knowledge of whether this is a hereditary issue that could affect future generations, that could have opened the door for us to have another. A personal outcome I hope for, would reduce the guilt – I made GG in my body so I will always be responsible, however to put to bed those thoughts which linger in the early hours, was it the blue cheese I ate before I knew I was pregnant? Did I do something else to cause this?

In the past year, the continuous and repetitive assessments for support have continued – we do not fit into a neat box that dictates the support we need. We successfully negotiated our way through the transition from SEN nursery to SEN primary – a journey that was far from seamless. The battle that followed to secure appropriate school transport was another saga. The annual Disability Living Allowance review – often awarded for 5 years to those with a diagnosis – another 42 page form plus appendices. Even down to the box marked ‘medical condition’ to obtain a Queue Assist pass at a theme park. All would be easier if we had a name. As one wise and respected disability lobby group wrote ‘a firm medical diagnosis is hard to ignore’ – and the lack of one creates reason for doubt.

The one upside of no diagnosis is being a part of Swan UK. It is by far the best support group I have been a part of and I have tried a few. 24/7 support from others in the same position, always someone to listen, always someone to celebrate the successes, we are in this together. In the past year, Swan have ensured we are fully informed about the opportunities for diagnosis – incorrect info from professionals that we have been able to challenge – thanks to the knowledge of the staff and other families. We have met with other families, enjoyed an awesome day out together which would not have been possible without Swan UK.

Mostly though, Swan UK has inspired me to try and make a difference. Thanks to a bloggers workshop in the New Year, the collective brains and passion of those in the room gave me the impetus I needed to start a campaign for co-ordinated care. I have no campaign experience, I am a working mum with an incredibly busy home life but determined to try and make a change.

I have recently launch #outofthebox (Out of the Box) to try and improve care for those with #undiagnosed conditions. I have rediscovered my mojo, I have a purpose and I have an amazing support network who give me honest feedback and incredible input.

I will however finish with some positives in the past year, steps that are miniscule to most children but to GG have been significant. Firstly, GG is drinking more, still not enough, but we no longer battle to get tiny amounts of liquid into her. We now have c.80% success with daytime toileting, a phenomenal life skill to achieve. Gross motor skills have progressed well and GG has discovered a love of singing – the most beautiful sound. I have succeeded in finding swimming, horse riding and a Rainbows group that are now welcoming GG with open arms and recognising the contribution she makes to the class. Seeing GG swim independently with a woggle is my memory of the year.

So what next? In the next 12 months our hopes are to discount the ‘Almost Diagnosis’ (all fingers and toes crossed….) and be moved onto the 100,000 genomes project as the next leading research programme. Although likely to be a long lead time, it is the best chance we have of finding a diagnosis. We will battle the transition from ‘statement of educational needs’ to EHCP and we will get the support GG needs. I hope to make an impact with the #outofthebox campaign and influence policy makers to spend their money on care and not repetitive assessments. I plan to investigate therapies to help GG with sensory needs in the hope of helping with behaviours. I may even get brave enough to face the application process for respite care. Mostly I hope to continue to enjoy my fab family, my gorgeous GG and keep everyone as healthy and happy as possible.

Swan UK have provided a lifeline to all we have faced in the past 2 years. We need this group and funding is at a critical junction with some big grants ending. My one request is to help support Swan UK to continue running and supporting the 1000 families already signed up, as well as reaching out to the 1000s of other families battling in isolation.

If you would like to donate to support the work of SWAN UK you can do so via the Just Giving page or our Virgin Money Giving page. You can also donate by texting SWAN11 £3 (or any amount up to £10) to 70070

Happy Undiagnosed Children’s Day 2016!!


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Out of the Box

Out of the Box

Out of the Box – Campaigning for Co-ordinated Care for Children with Undiagnosed Genetic Conditions

As GG’s mother, I have spent the past 5+ years navigating my way around the services provided by local authorities, the Community NHS and the DWP. Firstly, I would like to say how grateful we are for the services provided, we benefit from some good services, an excellent school, a great transport company, the support of therapists and a fab school nurse.

However, accessing this support has been a significant challenge – you have to fight every step of the way to secure the support your child needs. Excluding medical involvement, there are no less than 24 touch points for different services.

For each of the 24 touch points, there is a separate assessment process. Each assessment is time consuming, intensive and requires us to continually ‘prove’ that our child is disabled enough to meet the criteria. For the service providers, it means duplication, repetition and specialist resources focused on assessment rather than provision of the service.

Although in the end we have mostly been successful in securing the support needed, the journey has been tough. As GG remains undiagnosed, this adds extra complexity to the processes. On most forms there is a small box marked ‘please describe medical condition’. This is not straightforward. This is a very long list.

Disability Living Allowance awards are generally only made one year at a time as no diagnosis results in no firm prognosis. Despite little changing year on year, we have to repeat the 42 page form with 10+ appendices. This year it took me more than 6 hours in total In the UK there are 6000 children born each year without a diagnosis, none of whom fit in a box.

My vision for the future is of one combined specialist assessment team. They could provide the focal point for the child and their family, assessing their needs across a range of different services – from School Places to Blue Badges, Respite Care to Housing Adaptations. This would allow the delivery teams to focus on provision of services – which I know from regular inter-actions is what they want to do.

There would be multiple benefits to this approach. In this world, diagnosis or no diagnosis, the teams would focus on the needs of the child, not what we are able to write in a box. Being undiagnosed would no longer be a barrier.

For the family it would also remove the continual assessments and allow for fair and consistent decisions. From a funding perspective, this would eliminate a lot of waste in the current system and allow funds to be spent on delivering services, rather than cumbersome and costly assessment and appeal processes.

I appreciate such change is significant and I am presenting a simplistic view of a cross authority / cross team approach. However, I passionately believe that in combining resources – in this case for assessment purposes – we could achieve better outcomes. In the short term, simple changes could reduce wastage. For example, a child allocated a place at a Special Needs School will have a complex disability so it would appear logical that they will require a Blue Badge, transport to school and access to respite services. I am sure this co-ordinated approach would benefit families and service providers.

I will shortly be launching my campaign ‘Out of the Box’ to improve the co-ordination of care for disabled children and specifically to remove the barriers for those who do not have a diagnosis. We should not be penalised for not fitting in a box. By thinking out of the box, some small changes could have a big impact.


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A dream – in more ways than one

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I dream most nights and often wake up with my head full of weird and wonderful nocturnal imaginings – friends out of context, me speaking random languages fluently, dreams driven by fear, and just occasionally dreams driven out of hope.

Many of my dreams are repetitive, one common dream I have experienced since childhood, involving a pigeon, a burglar alarm and an exploding house…. I can only imagine the fun an interpreter of dreams would have with that one.

Since Christmas I have started having another repetitive dream – 4 times so far and it is a rare dream built on hope. Quite simply I dream that GG is a fully functioning adult. It is a dream in more ways than one.

As with most parents, I imagined dreaming of my children’s graduation or wedding, adventures travelling the world or becoming a parent. Never did I imagine that dreaming of my child able to do the most basic things would be so far from reality.

In my dream GG is running, without falling. GG is riding a bike, on her own. GG is making a cup of tea, unaided. GG is holding a conversation and is understood. My GG as a neuro-typical adult, so simple and yet so impossible.

The sense of pleasure is indescribable, my heart bursts with joy. As often occurs with my dreams, the first few seconds after waking I continue to experience the joy, immersing myself in that fabulous image. Unlike most dreams however I come crashing down to earth with a bang. The beautiful image of the adult GG firmly engraved on my mind in the cruel light of day.

I don’t think I can ever fully accept GG’s situation, I know I will never stop hoping. The ‘if only’s’ persist and the dream is sticking its’ fingers up at the limited acceptance that I have managed to achieve.

Then, I look at my amazing GG as she wakes, the big grin as I go to lift her from her slumber, the excitement at a new day – oblivious to the 6 sleep seizures she had during the night.

I focus on the positives of my beautiful child who will never know the worries of a typical grown up. The child who I am certain will forever retain the fabulous belly laugh and infectious giggle. I turn my focus to my dream in the real world – that GG remains as happy as she is today despite the challenges she faces.

That is my true dream, my life’s mission – mission ‘Happy GG’ accepted with pleasure!

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An Ode to Mothers Day

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So being a mum to Gorgeous Grace is a privilege and a huge pleasure,
The cutest grin, infectious giggle, GG really is a treasure,
The joy on her face when we race, or play horsey on the floor,
The cuddles I sneak,  I love to watch you sleep, you are so pure

Of course I find it hard sometimes and struggle with the guilt,
‘oh no’ they say, ‘it wasn’t you – it’s definitely not your fault’,
But I’m the one who made you and grew you in my tummy,
The one who gave birth, fed you – it has to be me – I’m your Mummy

People sometimes say ‘You wouldn’t change her – not for all the world’,
But that’s not true, I absolutely would make things better if I could,
Don’t get me wrong, life without you I could never ever contemplate,
With your siblings, my gorgeous girl, you make my world complete

You show me clearly everyday what is important in this world,
Time with you, to enjoy ourselves, together memories we build,
But the therapies and appointments they do get in the way,
We have to try, keep pressing on, and hope it pays back one day

The days you cry when I brush your hair or during physio,
it breaks my heart, I crumple inside, I wish it wasn’t so,
But then we put you in the bath or take you to soft play,
We feed you the cheese you love and suddenly everything is okay

I love the days when you’re on form and we spend time as a family,
The days you squeal ‘bumble’ when I put Mr ‘Tumble’ on the TV,
The days you snuggle up to me and we read a book on the sofa,
The days we play with baby and have fun and games together

Just keeping track of all you need is a mission in itself,
The paperwork and chasing up – I hope it all will help,
But ultimately nothing matters more than your happiness,
and that my darling girl will remain my personal quest.

Hammering at the door of a Rare Disease

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Having an undiagnosed genetic condition sucks. Having a rare disease also sucks. So why are we pursuing that elusive diagnosis that will ultimately be a rare disease?

We are not daft enough to think that after more than 5 years of searching, (including 2.5 years on a ground breaking international genetics research programme), that a diagnosis will provide GG with a known and understood diagnosis. However we continue to seek the rare disease – or even genetic mutation that does not yet link to a known disease. There are many reasons why.

#1 – There is something to write / type into that small box usually called ‘medical condition’. I have tried both ‘unknown’ and ‘undiagnosed genetic condition’, neither of which satisfy the faceless individual assessing GG’s case. However there is not room for ‘3 types of epilepsy, low muscle tone, hypermobility, sever learning disability, squints, misaligned bones, uneven leg length’…..the list goes on.

#2 – We will have an answer to ‘what’s wrong’ / ‘why’ – having an explanation is helpful in social interactions – that would be a start. However way more impactful for us is that a diagnosis will explain why. It is hoped that the ‘why’, will finally remove the never ending soul searching of what did I do wrong? Did I cause this by eating that piece of blue cheese before I knew I was pregnant? Ridiculous? Maybe, but very real.

#3 – We have a chance of understanding if this is a hereditary condition. Not for us I hasten to add, after the arrival of GG’s little brother, we closed that chapter, agreeing that we had rolled the dice one last time and been lucky. However GG has 2 siblings who will no doubt in the future want to consider having a family. Knowing if they carry a hereditary condition will be important.

# 4 – Hope. Pure and simple. A rare disease diagnosis would give us hope that in GG’s lifetime there maybe treatment, even a cure. I know I am getting carried away now, but we cling onto that hope.

Hats off to all those battling with rare diseases, we do not underestimate the challenges you face in finding and accessing the support you need. However we do not wish to remain in the undiagnosed camp and very much hope that one day we will join your ranks. We know we will be welcomed with open arms.