Friday, 24 April 2015

No diagnosis? What's the Big Deal?

Today is Undiagnosed Children's Day. And yes, every day is a particular awareness day now it seems, and yes, it's Allergy Awareness Week too and I already blogged about that on my Recipe Blog.... but this one, this day, really REALLY matters.

You would be forgiven for thinking a diagnosis is an expected and usually almost inevitable end point when you or your child is referred for consideration of a collection of symptoms, often present since birth.  Indeed when you are first sent to hospital with your baby you have high expectations of enlightenment from the medical profession, and although no one seeks a "label" to define their child, it's a commonly accepted fact that a diagnosis in the UK is a passport to services, support, understanding and a pathway to appropriate supportive - and preventative care.

So you might be shocked to learn that  it is not given similar status by Consultants and health professionals. Indeed, there is a culture in this country of diagnosis avoidance, a pretence that by hiding from the logical, avoiding the obvious or avoiding searching for the unexpected they are in some way leaving doors open to you or your child.

The fashionable refusal to place a child in a box, define them by their health condition is superficially laudable - but the reality is they live in a state of suspended animation with limited services supporting their needs and trivialised symptoms precipitating utterly inadequate and often inappropriate support.

Of course, medicine moves at an alarming pace (at least it does in the areas given a high public profile and attracting government funding - which does NOT include gastrointestinal issues - but that's another story for another time......) and diagnostic procedures and processes change all the time - but don't kid yourself that those with a diagnosis are cast in stone, never more to be reassessed. Diagnoses are inherently flexible, defined only by symptoms and agreed knowledge at the time. What they ARE though, is a currently agreed capsule that encompasses everything that person is dealing with neatly, offering a prognosis, treatment plan and vindication/justification of symptoms in one.

Because it's not easy gaining understanding for a largely invisible condition.

Myself and my children have plenty of "diagnoses", and plenty of names for individual symptoms. And indeed there is a possible overall name for the entire collection of symptoms we all share, but to apply that to us would require a genetics referral for us all together -which apparently is FAR too complicated, bridging the gap between paediatric and adult services and (God forbid) requiring adequate communication between local departments and tertiary level care.

In the UK, doctors are only permitted to investigate genetic issues down a justified, specific pathway. There is no wholesale investigation, sequencing or broad observation - which in many ways is no bad thing. Many people have genetic issues which never affect them. Knowing about these could have far reaching implications on their mental and emotional health, on future health insurance too. But this blinkered approach and reluctance to look below the surface does an enormous injustice to those with chronic health issues who struggle on without a diagnosis. And it is a situation further compounded by competition and disagreement between Trusts and Local v Tertiary care.
But it's an internal political football that should never have been in play.

The burden placed on parents of undiagnosed children is almost unbearable. In fact it's not unknown for them to have the spotlight turned round on them - because surely their children cannot have SO many issues without a diagnosis? And *surely* the NHS would not expect parents to do the research, paperwork and spend the time trying to piece the puzzle together? But they do - because parents care, and the dinosaur that is our NHS is not equipped to function beyond the straitforward, unless it's going to further someone's research or career. Because sadly, that's the only way you hit the diagnosis jackpot today.

So we muddle on. Without our justification, our passport, without a clear plan, appropriate care or inter-departmental understanding. The recent NHS reorganisation I wrote about in February has had a huge impact on us and on my children's care in particular. Every time we gain a new professional we start again, trying to explain 17/13/9 years (or 42 years!) of history without forgetting anything. Most hospital and clinic notes are full of errors, omissions and dangerous mistakes - circumnavigating those is hard enough, let alone having to start again with someone new. At almost every appointment something else is picked up on, pointing to the need for further scrutiny. But it's far too complicated to share that information between departments, let alone hospitals.

A diagnosis would make a phenomenal difference.


  1. I feel your pain. I had to diagnose Elizabeth myself then fight tooth and nail to get it accepted. I then had to go right to the top (commissioner and mp) to get her referred to the services she needed that there was no funding for. All the time knowing that there are thousands of kids out there who do not have mothers like me. Either they don't understand how the system works or they don't know how to even write the necessary emails and letters! Those kids are lost. It's an utter disgrace.

  2. Thank you for this post as it is helping to raise awareness
    my daughter comes out in hives and the first time it happened i got a fright as i know a reaction causes them. We hadnt changed anything or given her a new food. we took her to the doctor who said the weather can cause them too. I am still not convinced being honest x

  3. It is so hard not knowing what is wrong - its definitely a good cause to raise awareness for.

  4. Thanks for writing this post Kate. Children with undiagnosed genetic conditions are the 'lost children' in the NHS. If anyone comes across this post when googling undiagnosed conditions, please go to for more information x

  5. Great post Kate and it is so great to raise awareness because it is something that isn't talked about very much x

  6. Great post and I can see what a huge difference a diagnosis would make - this happened with my OH with a dietary intolerance that he basically had to get diagnosed privately after going backwards and forwards to the doctor trying to find out what was wrong - I realise this is a bit different but it's so hard if the usual routes aren't working.

  7. I really loved this post as it sums up what it is like to have an undiagnosed child and the impact of NHS priorities. I hope you get some answers soon x

  8. aw i feel terrible for anyone having to deal with this it must be soo frustrating not knowing x

  9. I think you've hit the nail on the head here Kate "NHS is not equipped to function beyond the straitforward". Although I'm massively against overall privatisation, I'm fortune to have private healthcare through work and we're able to use it for our girl. There's nothing worse than knowing there is something wrong with your child, yet being fobbed off by the powers that be. Thanks for posting this vital information xx

  10. A wonderful post, it must be incredibly frustrating for you all

  11. great post it must be frustrating for you to not have anything diagnosed.

  12. Fab post - I hope you get your answers very soon, it must be frustrating x


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