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.

 

How can a politician decide-  over the expertise of a medical professional – that a physical disability is a ‘real disability’ whereas less visible disabilities are not?

It was with dismay that I read about the plans to restrict Personal Independence Payments to the ‘really disabled’ – so what does ‘really disabled’ mean? From the list published today by the Department of Work and Pensions, it basically means a visible disability. A wheelchair user or a blind person are quoted as being those in need of most support. However, if you have autism, a learning disability or anxiety disorders (plus many more) you are not in the eyes of the politicians ‘really disabled’ – despite being diagnosed by medical professionals who have spent years understanding how debilitating such conditions can be.

For those with rare diseases or so rare they remain undiagnosed, often the complexity of the condition means that there is a combination of both physical and non-physical disabilities. This is certainly the case for GG, my amazing and brave daughter.

Of all the challenges we face in supporting GG, the physical ones – are for us – the easier aspects of her disabilities to manage. I am not saying it is easy that GG cannot walk far and still needs to be lifted into her car seat – however, we are able to use her buggy or wheelchair when she needs it. The epilepsy is by far the most terrifying aspect of GG’s condition but fortunately for GG, there is medication to help, professionals to support.

However, on a day to day basis, the challenging behaviours which are the result of a severe learning disability are much more difficult to handle. We cannot remove GG’s anxiety with a physical aid, there are no tactics we have discovered so far that can help her regain control in the middle of a sensory overload, there is no tool for us to use to fill the gaps in her communication which results in frustration, screeching and meltdowns.

I know for many disabled people, the physical aspects of a disability are the biggest challenge but to suggest that a physical disability is ‘really disabled’ whilst the completely debilitating aspects of non-physical disabilities are not is ludicrous. For my daughter GG, and the 6000 children born every year who remain without a diagnosis, the lack of a ‘label’ is highly likely to result in an even higher level of questioning when what we really need is more support.

So who made the decision about who is ‘really disabled’ and what that means? None other than MP George Freeman who previously held responsibility for the UK rare disease strategy….

I was even more shocked when I learnt that the proposer of such changes was none other than MP George Freeman – the previous minister for life sciences with responsibility for rare disease. In a recent ‘All Party Parliamentary Group on Rare and Undiagnosed Conditions’, Mr Freeman outlined the work to implement the UK strategy for rare disease – stating that “nowhere is the challenge more acute or relevant than in rare disease”. More information can be found in this link.
http://www.raredisease.org.uk/news-events/news/rare-disease-day-2016-westminster-reception/

How can a minister who has had first-hand experience of rare and undiagnosed diseases, who has heard directly from families who manage such conditions on a day to day basis, in his next job take such a narrow view of disability as being the physical aspects?

On Rare Disease Day 2017 let’s make our views known to Mr Freeman and let him know that ‘really disabled’ comes in many different forms all of which need appropriate levels of help and support.

You can tweet Mr Freeman using @Freeman_George.

Please also see a further post I have written for Rare Disease Day 2017, published by Scope: 

Dear Mum and Dad of a newly undiagnosed child