Guest post: Undiagnosed Children's Day - "without a label, support is harder to access"

[MumsnetGuestPosts]

My son Hugh is five-years-old and in his reception year at school. He's a happy little boy, with a head full of crazy hair that points in every direction except the way you want it to. He laughs a lot, particularly at fart noises, and he loves music and singing. He's not much of a morning person and he gets grumpy when he's tired. He's a little brother to Sean, aged six, and he brings joy and laughter into our lives every single day.

"Just like a typical little boy", you might say. And he is. Except that he can't walk. Or talk. Or even sit yet. He's fed through a tube that goes directly into his stomach. And he's blind. And sometimes he stops breathing for so long that we have to breathe for him. To the outside world, he is profoundly disabled. To us, he's just our little Hugh.

You might be wondering "what's wrong with him?" or rather "what's his diagnosis?", which is a much kinder way of asking the same question. And the truth is, we don't know. No one knows. Imagine that: all the tests, all the doctors, all the specialists and all the expertise that the NHS has to offer - and still we're none the wiser.

Apart from the frustration of not knowing, not having a diagnosis comes with its own unique set of challenges. Sometimes Hugh's problems aren't taken as seriously - from the patronising doctor who implied it was all in my neurotic mind, to the kindly relative who assumed he'd grow out of it and catch up. Professional support is often allocated after diagnosis; Hugh waited much longer for physiotherapy, early teaching support and community nursing care than a child very similar to him who had a confirmed diagnosis at birth. Even access to equipment and adaptations to make his life easier were delayed through the lack of diagnosis; the occupational therapy team discharged him and said they'd reassess him for ramped access when he was older because without a diagnosis there was no guarantee he wouldn't learn to walk.

Hugh requires 24-hour care and regularly stops breathing. I was resuscitating him nearly 30 times a month and was completely at breaking point, and yet we had to beg for help. Without a diagnosis there was no prognosis, so we didn't fit neatly into any support package. Furthermore, access to lots of parent support groups is based on the diagnosis attached to your child, meaning that at a time when you're already struggling physically and emotionally and feeling isolated and alone, you're further excluded from accessing help by not having the right 'label'. When as many as 50% of all children with learning disabilities do not have a definitive diagnosis for their difficulties, it's ridiculous that not having a label still remains such a barrier. This needs to change.

Until it does, though, we'll continue our search for the ever-elusive diagnosis. A diagnosis wouldn't change Hugh, but it might help us understand him better. It might enable us to find treatment to control the rare and life-threatening form of epilepsy that stops him breathing so often. It might give us clues as to how best to support his physical and cognitive development. It might give us a glimpse into the future and help us understand the past. Maybe we would find others with the same diagnosis, people further along the path who could give us guidance, encouragement and hope. A diagnosis would also provide answers as to how this happened to Hugh. Is it a faulty gene he's inherited from us and, if so, could it happen again?

And that is why we, and so many families like ours, continue to search for a diagnosis.

That is why I have traipsed from one end of the city to the other and beyond, attending appointment after appointment - more than twenty different doctors and specialists spread across six different hospitals, all with forms to fill in, questions to answer and tests to perform.

That is why I have spent hour after hour on the internet, scouring medical journals and trawling through search engines, looking for clues.

That is why I've woken in the dead of night, heart pounding, panic rising in my chest, desperately trying to silence the screams of fear in my head. Fear of the known and the unknown. Fear of what might be to come.

That is why just last week I cupped his head in my hands and sang "row, row, row your boat" for 20 minutes while two nurses pinned him down and stuck a needle in his arm repeatedly to try and extract seven millilitres of blood from his tiny veins.

That is why I've handed him limp and unconscious to strangers so they can scan his brain under a general anaesthetic.

I want to know the reason behind his difficulties. I want to know what caused this. Because if I know why, then maybe I can help him. If I know why, then maybe I can protect him from the worse things that might be to come. Maybe I can prepare myself for the future, and maybe I'll know whether Sean or his children or any future children could be affected.

Because if I know why, then maybe I'll know it's not my fault.

Find out more about Undiagnosed Children's Day here, or watch a video .

[siiiiiiiiigh]

Fantastic post, thank you. Travel insurance, too? I have a friend in a similar position, and, going on holiday is an administrative nightmare. They decided to take their daughter uninsured to visit family - it was that or not go Awful. Delighted for Hugh that he has you as his mum, you're obviously doing a great job. Hope tonight is a peaceful one for you.

[BlackeyedSusan]

there should be a catch all diagnosis, which would help you access funding. something medial sounding that says we have no fucking idea what caused it but it is real. it is outrageous that there is so little support for needs that are so obvious.

[hazeyjane]

Thankyou for this post.

Ds has a 'possible diagnosis', but is part of 2 major studies - the DDD study and one into a specific syndrome that it is thought he has.

Even having this 'possible diagnosis' makes things easier wrt hospital visits and things like statementing, but we still feel like we are in limbo land.

[butterflyballs]

Fabulous post. I know a lot of SWANS and you sum up beautifully the problems and stresses of finding support and accessing information.

Hugh is adorable btw.

[springalong]

Great post. Thank you for sharing

[itsnothingoriginal]

Great post and I truly hope you do find some answers soon. It must be so hard living with the uncertainty about your little boy's future

We have a different situation but ironically we spent 8 years avoiding a dx for my daughter despite the fact that her disability was clearly evolving. We were so scared of what the label might mean for her self esteem and the judgements that could be made by healthcare and education professionals once we went down that road.

However I totally agree that without a dx it's much, much harder to access services and funding so we've just had an official dx for her. For better or worse it seems the only option.

[Handsoffmysweets]

Thank you for writing this post Emma. I cannot imagine how hard it must be for you and your family to be in that limbo of not having a diagnosis. Thank God Hugh has a wonderfully loving family who will go to the ends of the earth to find out what's wrong. You sound like a wonderful caring mother and Hugh sounds like a gorgeous little boy who deserves access to funding and support groups - it's a travesty that in this day and age you have been palmed off, patronised and dumped in no one mans land because no one can give you clearer answers. I hope and pray that you get the answers you desperately need and your lovely family will remain in my thoughts x

[Lovewearingjeans]

My friends little girl got her diagnosis last week from a study at GOSH. She is going to be 8 this year. She is hoping that she will now be able to access respite, which was seemingly unavailable to children who are profoundly disabled without a diagnosis!
I hope your son soon has the same outcome.

[Staywithme]

My 19yr old niece came to live with me recently and when I was trying to sort out her benefits I sent some paperwork to her doctor, who phoned me and explained that there was nothing in her notes stating she had SN. She attended a special school and is currently attending college to learn how to be independent. She has never been given a formal diagnosis of what her SN is. It's making things very difficult regarding benefits for her and I'm currently trying to support her which is not very easy as I've been recently widowed. I was astonished to discover they had put nothing in her notes as she has moderate to severe SN. I'm lost as to where to turn to next.

[ancientbuchanan]

It's so hard. Good post. It's in some ways less the DX itself than what one would entitle you to.

Our DS had / has a condition that is still not widely recognised nor understood, nor curable, and when he was little a decade + ago it was far less known. I too was accused of Munchhausen syndrome, nearly taken to court by the primary school, who also initially refused to give him medication until I threatened them with possible manslaughter and publicity. We could only go on holiday to places where I could guarantee a swift return to GOSH.

But GOSH, when we finally got there, was fabulous. They provided all sorts of letters etc for him and me which made life easier. And that was what mattered to me.

We did our part by agreeing to be in any research they wanted, reporting back on what worked, talking to friends in the profession in other countries who swapped ideas and GOSH from time to time considered. I stopped looking for a diagnosis for DS as it was too emotionally wearing but kept in touch, not for DS but my own intellectual curiosity.

There still isn't one, and things can still be tricky though not so bad as for you, but there is more research in the related area. One day...

[Owllady]

Gosh this is so true. I even said to my social worker this week I was SURE I have to fill in DLA forms more often than others because my child has no definite diagnosis, just a collection of them iykwim. I want to reassure you though that the need to know does get easier and less important though. My daughter is sixteen this year and I rarely think about it :) but I completely agree regarding services/support/groups etc

[LittleMammaSaid]

Sorry it's taken me so long to reply - was having problems accessing the page.

Thank you all for taking the time to comment and for your kind words about Hugh and I. I really appreciate them xxx

Siiiiigh, we've not looked into travel insurance yet as we haven't taken him out of the country, except to Ireland which was a disaster of epic proportions. I can imagine it must be a nightmare to sort out.

BlackEyedSusan - exactly! I think this is what the acronym SWAN is trying to achieve - Syndrome without a name. It IS real - we just don't know what it is yet, kind of thing

hazeyjane - good luck with that. We are also on the DDD study.

itsnothingoriginal - I can completely understand why you avoided a diagnosis, it is such a worry that they will be stigmatised and that their self esteem will plummet. I really hope this didn't happen when you finally accepted a diagnosis.

Staywithme that sounds like a really difficult situation to be in. I really hope you find some support and guidance through this. Things seem to be even more complicated with transitions to adult services too.