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.

GG’s Learning Disability Journey – Why Change Is Needed

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GG has an undiagnosed genetic condition and is known as a Swan (Syndromes Without A Name) however as part of her condition, GG has lots of diagnosed elements – 3 types of epilepsy, low muscle tone, hypermobility, squints and amongst the most recent, a severe learning disability.

I recently attended a conference for parents of children with learning disability (LD), particularly around challenging behaviours – a topic I have written about before: https://theworldofgorgeousgrace.com/2016/10/05/is-there-any-help-out-there/

In that one day I learnt more about LD and what should happen when a child is diagnosed, both from the speakers but equally importantly from other parents. It became clear that the experiences in the room were inconsistent, that support is inadequate and parents felt lost and isolated.

Over the past few weeks I have reflected on our LD journey to date and wanted to share and explain why change is so desperately needed.

Being diagnosed with a Learning Disability

The way we received GG’s LD diagnosis was far from ideal. It came in a letter, out of the blue. It was a referral letter for another set of tests, in which the little summary of medical issues which is listed at the top of all correspondence, suddenly named ‘Learning Disability’.

Up to this point the catch all (and personally detested phrase) had been Global Developmental Delay (GDD). There was no explanation for the change in terminology and certainly no consideration to the parent receiving such a life changing diagnosis via a routine letter. When questioned we were informed that around the age of 5, GDD is re-evaluated, and GG had been assessed to have a learning disability.

Our Learning Disability Pathway

As outlined above, this was not our first experience of a new diagnosis however it was a very different experience. When compared to the epilepsy diagnosis for example, a neurologist was involved, immediately assessments were organised, EEGs were requested, medication discussed, support groups flagged to us. Yet, an LD diagnosis which has been equally life changing was delivered with no package of support, and to date the only assessments GG has had we have paid for privately due to an absence of any other option.

NHS guidelines state that a Positive Behaviour Programme should be agreed for all children with LD. In our area, children under 9 are not offered LD behavioural support as it is deemed to be difficult to ascertain how much of their behaviour is due to circumstances at home vs. their learning disability. GG is diagnosed through a number of reputable assessments as having a severe Learning Disability but this does not afford any support until she is 9 years old. Yet, it is clear that early intervention is highly recommended from all LD specialists.

 Managing LD Associated Health Risks

Within the last 2 years, we have specifically asked whether GG would have a normal life expectancy -accepting it can only be based on information known at the time. We were told as long as the epilepsy remained under control, there was no reason GG would not have a long life ahead of her. We were more than a little relieved and turned our attention to providing a stable and secure future for our gorgeous girl.

However, at the aforementioned conference, I learnt that this is completely inaccurate. Research shows those with LD typically – and utterly shockingly – die around 20 years younger than those without. There is a clear Government backed mandate to improve the prognosis of those with LD as tragically, many deaths are avoidable.

We were not given these facts, that there are higher rates of stomach cancers, heart disease, leukaemia, diabetes…..had we known we may have tried to address GG’s high dairy diet before now. We were not even told to register GG on the LD register with the GP. We were completely devoid of known information that should have been available to us.

Again if we compare to the epilepsy diagnosis, we were made aware of an increased risk of death during sleep (SUDEP), we have video monitors, movement monitors and ensure we regularly check in overnight. It is really tough to hear but we would rather know and do our utmost to manage the risks.

So What Next for GG?

We are on the cusp of starting a new life in the countryside and moving our family North. Armed with new information, a supportive network of LD parents and superb LD professionals campaigning for change, we are determined to ensure that from here onwards, GG has a much better experience. I know what to expect and what to ask for. 

I am also committed to ensuring that others have a better experience and hope that by sharing our journey, it will help to shape the much needed changes to come.