Where are the 98%? #Undiagnosed

swan_ucd_2017_email_footer_v3

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.

What was I thinking? The rookie mistake of a SN parent.

kids-1268694_960_720

The meeting

It is 6 weeks since the appointment where my son, just 3 years old, sat playing through (yet another) appointment about GG – this time the educational psychologist. As we were chatting through some of the challenges at home, with the backdrop of Fire Engine noises, I hear a little voice say ‘GG hurts me’. The educational psychologist instantly dropped to the floor and played with him while encouraging him to expand. Yes, GG does play nicely with him – sometimes. Yes, GG can be fun. Yes, GG hurts him. How? Hair pulling, hitting, kicking….every day? Yes. From the mouth of a babe.

I tried so hard to hold it together but inevitably there were tears. There was this amazing little boy, my incredible little boy, who never hits back at his sister – despite holding his own in the nursery play area – describing to a stranger the good and the bad of being a special needs sibling.

The flashbacks

I frequently find myself having flashbacks to that meeting, searching for ways that we can help both GG and her brother to have a more positive relationship. There is no manual for how to support a learning disabled child, engage in meaningful play with a younger sibling who happens to have greater skills.

The ongoing challenge

There are moments of absolute pleasure – a game of hide and seek which leaves both children in fits of giggles. Unfortunately there continue to be lots of lows, occasions where we did not predict the lashing out of a very frustrated child, several potentially serious near misses – a push as we are making our way downstairs or fingers in the eyes. We have tried gates to keep them apart, we have tried never letting them out of our sight but with two mobile children and dinner to make, it’s not possible to be all things to all children. The ‘wiser than her years’ older sister who is so good at predicting and preventing trouble.

There is no doubt that GG adores her brother but he is also a sensory overload nightmare to her. Has anyone tried asking their 3 year old to quieten down because his sister isn’t coping well with noise? I know before I have said it, that my request is futile. Often, neither child is playing up but compatibility is a significant challenge.

 The rookie mistake – what was I thinking!

Then I made the rookie mistake – despite being 6 years into our SN journey. I described the meeting and the words of my little boy at a mainstream toddler group. What was I thinking! The immediate silence, barely masked looks of horror, parents holding their toddlers tight – trying to imagine a world in which they are regularly hurt by a sibling. Then the attempt to normalise our experiences – ‘it’s just normal sibling behaviour’, ‘all siblings fight’, ‘it’s just a phase’. Me wanting to sink through the floor, wondering at what point I lost my senses.

It’s important to speak out

It has taken me 6 weeks to feel able to talk / write about this, I know it is important to share and that I am not alone. However, I should be able to protect my little boy and I should be able to help my little girl to find other ways to express herself. I never stop seeking help and support. Inevitably I still have no report from the educational psychologist meeting but 6 weeks is nothing in my experience. The dream of some professional input from school being a distant lifeline.

I am however attending a workshop in just a couple of weeks time, where I have high hopes of obtaining some professional input, meeting others in a similar situation and hopefully come away with some new tactics. You can find out more here: http://yvonnenewbold.com/childhood-violence-autism-pda-adhd-or-a-learning-disability-conference/

 

MY LEARNING DISABLED CHILD IS NOT A BURDEN ON SOCIETY

 

society-image

On the contrary, GG contributes significantly to the world we live in and genuinely helps to make it a better place. It would be so easy to launch into stories of inspirational Paralympians, people with Downs Syndrome running their own business, or the building evidence of genius’s and talented artists who were likely on the autism spectrum but it is so much simpler.

GG brings immense joy to our lives and to those around her, she enjoys the simple pleasures in life and reminds us what is important. GG is not encumbered by financial concerns or fears of what is happening in this world but revels in the here and now, something we can all learn from. Being able to giggle at the daft things, she keeps alive the best of toddlerhood lurking inside us all.

GG is also completely non-judgemental – she takes people as they come. Racism, ageism, fat-ism, none of this would even occur to her. GG is the only person I know who honestly has no unconscious bias.

Along with most children with disabilities, GG demonstrates a level of bravery that I could certainly only aspire to. I am ashamed to think back to the levels of complaining when I suffered with back issues on and off through my 20s. It wasn’t nice and the physio was not fun. GG does physio every day. Climbing stairs is always hard for her but she does, all the time. Epilepsy is hideous and whilst I am still recovering from the aftermath of a seizure and my reaction, GG picks herself up and carries on with her day. If the rest of the human race was half as resilient as my daughter, this world would be a much better place.

The other fabulous trait that makes me smile all the time, is a complete disregard for materialistic possessions. Don’t get me wrong, GG has many many toys as we feel compelled as parents to surround our children with gawdy plastic items. The truth however is that GG is completely happy with her baby doll, a pram and an apple. Even the tooth fairy brings chocolate to GG. Yes, she will also be entertained by the iPad but it isn’t an important factor in her life, and TV is for wimps who feel the need to sit down!

If the view of ‘contributing to society’ is obtaining a degree, having a distinguished career or excelling as a football player then no, it is unlikely that GG will do any of these things. However, for the majority of people, the important things in life are not achievement or materialistic based. Caring, sharing joy and valuing other people are what matters and GG exhibits these traits more than most.

Despite the huge progress in attitudes to disability and having come a long way from when disabled people were hidden away, it is a sad position that I, and other parents, find ourselves having this debate. However when I have heard so many challenges as to why public money should fund services to disabled children, it cannot be ignored. Early intervention, good education and enablement therapies ensure that disabled people are empowered to contribute to society so let’s fight to continue to make provision better.

 

Delivering a Diagnosis

blue-dna-helix_1048-2635

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

hippo_on_the_window_209014.jpg

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)

 

Dear Mrs May….

EU pic

Dear Mrs May…..Firstly I would like to extend my congratulations on your appointment as Prime Minister. I am of course aware of the significant challenge you are now facing in leading the UK through the separation process from the EU.

I am contacting you now, to ask that as part of this separation process, that the relatively small –  but very important – rare disease and undiagnosed community are considered.

I am the mother of a child with an undiagnosed genetic condition – one of 6000 unique children  born every year. There are many more diagnosed with rare diseases. The EU has made rare disease a strategic health priority, and its’ influence in this area has been significant.

You may already be aware that the UK is the centre for genetic research for rare diseases and I can only assume that we will lose this status in due course. These genetic research programmes are the hope we have for a future diagnosis –  which is our only chance of a prognosis, potential treatment and maybe prevention in future generations.

There is a high level of anxiety in the disability community, that is amplified in the rare disease and undiagnosed community, as we face the possibility of losing the significant EU investment in this field. For many of our community, we fear there will simply be too few affected patients in the UK to justify the investment required.

The key benefits of the EU focus in this area to date are:

  • Collaboration across borders and critical mass for an otherwise small population
  • Shared skills, resources and information – including access to niche experts across all countries
  • Research funding (otherwise cost prohibitive)
  • Medicine authorisation across the EU (otherwise cost prohibitive)
  • Innovation and knowledge transfer permitted by European Directives
  • Health benefits for those in the rare / undiagnosed community

I appreciate it is too early to begin to understand the full implications of Brexit. However if consideration can be given to protecting some of the critical work in this area, it would be of significant benefit to this community.

I, and many others, sincerely hope that you will give this full and proper consideration.

 

 

An Ode to a Special Dad

He’s the one she calls for, the Daddy she adores,

The one that she runs to, the minute she hears the door,

Daddy is her hero, he makes everything ok,

When he’s home, we’re altogether, she likes it best that way.

It’s not an easy job being Daddy to any child really,

But when they’re extra special, it becomes even more tricky,

The Dad is often the forgotten one, no-one ever thinks to ask…

How are you feeling? Coping? You always maintain your mask.

Behind the scenes you are vital, the one who holds us all together,

You’re the voice of reason, always there when I’m at the end of my tether,

You’re the one who calms us, makes it ok to just be,

But equally the Daddy who will fight every battle for his family.

How many times I catch you, that adoring look in your eyes,

So torn, so incredibly proud – holding back tears, trying not to cry,

Though she can’t quite say ‘Daddy’ – it gets muddled with her ‘blankie’…

It is with you, her hero, that GG is most happy.

IT’S NOT JUST ANOTHER PTA….

There will be a special needs school near you with a PTA or a School Association that will welcome volunteers with open arms. WE NEED YOU!

 After a year on the equivalent of the PTA at GGs special needs school, I find myself compelled to put pen to paper and try to describe the difference between this and a mainstream PTA.

I have always been an active mum who enjoys playing a role on the various committees associated with my children and their schools. This coming weekend I have managed to rope myself into running a Lego stall at the Spring Fair at my eldest child’s primary. In two weeks I in charge of salad at a school BBQ – a daunting responsibility….!

When I volunteered to join the the special school fundraising committee, I figured that I knew the score. I could attend a few meetings, support a few events and go home with that glowing feeling of having done something useful. Having completed 3 years on a committee for a pre-school where the livelihood of the staff relied on our management skills, I was pretty unphased when asked to take on the role of secretary. Agendas and minutes I can do, plus churning out a few thank you letters as needed –  no issues at all.

The reality however is a world apart from my previous experiences. When you are faced with the decision of providing specialist seating for a child as the Occupational Therapists have run out of funds for this year vs. paying for IPads that will allow a child who cannot otherwise communicate in class to take part in lessons – you find yourself torn and reaching to your own pocket in desperation – in my case usually to find a snotty tissue and a few 5ps.

It is heart wrenching to spend months organising a school Christmas fair, to find that of the 40 odd families at the school, there are several children too ill to attend, parent volunteers dropping out at the last minute due to hospitalisations and in the end you manage to raise a few hundred pounds. I have never been to a meeting where the requests for funding are under several thousands. Just keeping the minibuses on the road costs £4000 per year.

I know I am in danger of stating the obvious here but if you think mainstream school staff are stretched – take a look at the special needs school staff. If you think mainstream parents are time poor – just read some of the many fabulous blogs about being a parent to a child with needs so complex, they attend a special needs school. Add those two together and you are left with the resource that has to fund vital equipment for a school that is desperately under-funded. The maths does not add up and it is soul destroying.

We are extremely fortunate to have occasional funding from the Rotary Club and other local fundraising groups. However when we nominate the special needs school to be charity for the local car rally or sports event, there is always a need to provide a band of volunteers and we simply do not have the numbers.

volunteer-652383__180

So my call to action for anyone with a little spare time on their hands – there will be a special needs school near you that would welcome you with open arms. Be prepared for some tough decisions but nothing matches the sense of satisfaction when you see the kids on the bus, off to their therapies and knowing you helped to make that possible.

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.

frust

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


http://www.linkytools.com/thumbnail_linky_include.aspx…