Emma’s talk on Rare Disease Day

Hi, my name is Emma and I’m a mum to two young boys aged seven and nearly six.

I’ve been asked to talk today and give a family’s perspective on rare and undiagnosed conditions. Since many of you are parents and carers yourselves, I feel a bit like I’m teaching my grandmother to suck eggs, or preaching to the converted. However, I’ll share our journey with you all the same and if you do have any questions, please feel free to ask them at the end.

Just over five years ago, my husband and I sat upstairs in this very hospital, waiting for our son Hugh to recover from the general anaesthetic he’d had for an MRI on his brain. It was the latest in a long line of tests that he’d been through trying to discover why his head was small and why he was failing to develop as expected. I’d known from birth that things were a bit ‘different’ with Hugh – there’s just 14 months between him and his older brother and the differences between them were stark. Hugh rarely woke and was disinterested in the world around him. He never made eye contact. Yet he was nearly six months old before investigations began, partly because my concerns were dismissed and partly because I didn’t push as I was hoping I was wrong.

Hugh was still groggy in the hospital cot when the paediatrician sat beside us at his bedside. I thought she’d come to discuss his MRI but instead she asked what I knew about chromosomes and DNA. It had been many, many years since I sat in a biology lesson so my knowledge of genetics was rusty at best. She patiently explained thatthe chromosome analysis of Hugh’s blood, that had been taken some weeks earlier, had flagged up some changes. She explained how bits had broken off and reattached themselves in different places. They were all there apparently, but in the wrong order. She sketched a crude representation of Hugh’s wonky chromosomes on a scrap of paper and handed it to me.

I wondered what this meant – what condition did Hugh have, what was his diagnosis?

She explained they didn’t know and that it was unlikely we’d ever know. I asked what the future held, but without a diagnosis she shrugged that ‘only time will tell’. I sat clutching the piece of paper, willing it to make sense, willing it to mean something, but as she walked away from the bed, leaving us with this life changing news, we felt utterly bewildered and alone.

I was desperate for answers. I was terrified of the unknown. I felt that at least with a diagnosis I would know what I/ what Hugh was up against.

So I put my faith in good old Dr. Google and spent hour upon hour trawling the internet certain I’d diagnose him myself. Every new medical term on his hospital letters, every new symptom that arose, every tiny detail was deciphered, translated, cross referenced, checked and compared online.

Convinced we were the only people in the world who didn’t know what was ‘wrong’ with their child, I felt isolated and afraid.

I tried to join local support groups but they catered for specific conditions – primarily autism and down’s syndrome. There didn’t even seem to be a general support group for parents of children with additional needs.

I just wanted to speak to someone, anyone who ‘got it’, who understood about all the appointments and testing, who knew how worrying it was to not know what the future held, who could relate to the sadness and guilt and confusion of discovering the child I had wasn’t the child I expected.

I tried to go to baby groups, but juggling two under two was hard enough without the constant slap-in-the face reminder that Hugh wasn’t like other babies his age. And when asked, I couldn’t even answer why.

It makes me quite sad to remember those early days. The isolation was soul destroying. Unlike me, my husband is a take each day as it comes kind of person, a diagnosis didn’t bother him so much – whatever would be, would be. But I hated the not knowing. And I hated having no-one to turn to, who had a child like ours and could tell me it would all be OK. But the hours of endless searching paid off, and one night, sat in front of the computer once more, I discovered another mum who like me, didn’t have a diagnosis for their child. Suddenly I realised it wasn’t just my family – there was at least one other person in the same position. It was enlightening.

SWAN UK was established when Hugh was just over a year old. It stands for Syndromes Without A Name and they support families of children with a suspected genetic condition who are still searching for a diagnosis.

For the first time since Hugh’s difficulties had become really apparent, I felt that there was somewhere we really belonged. I realised there were lots of other people like us out there. I was relieved to know we were not alone.

Looking back, I wish that when the paediatrician had handed me the piece of paper with the squiggly lines on and told me we’d probably never know what was wrong with Hugh, she’d said ‘but that’s OK, lots of children don’t have a diagnosis’. I wish she’d thought to mention that some 60% of children born with multiple health and learning difficulties don’t have a label which explains their condition. I wouldn’t have felt so alone then.

I’ve learnt a lot about parenting a child with additional needs over the years. Some were hard learnt lessons but much of it was advice found from parents and carers in similar situations. Finding others who, like us, were searching for a diagnosis really helped on an emotional level as well as a practical one. If I could go back to the old me, the five years ago me, the first thing I’d do would be to give her a hug – boy did I need a hug back then. And then I’d tell her the most important lesson I’ve learnt ‘Don’t be too hard on yourself, you’re doing great!’ Do you hear that? All of you – you’re doing a great job! Maybe the guilt comes with being a mother in general but I’m sure it’s magnified when you’re under scrutiny from so many professionals too.

All the questions – the birth story, the names and doses of his medication, his most recent weight, the contact details of all the professionals involved, the specific details of his last seizure… so much stuff to remember all the time. And then all the things you should be doing – in between appointments and chasing appointments and chasing clinic letters and filling in forms that is… It’s the physiotherapy and the messy play and the hydrotherapy and the sensory integration therapy and on it goes.

And sometimes, I didn’t feel so much like a mother, but a nurse, a receptionist, a doctor, a physiotherapist, a cleaner, a carer. Some days(most days), all I really wanted to be was ‘mum’.

And that’s OK. Hug your children love them, spend time just being with them. The therapies can wait. I’ve discovered that simply loving your child is never wasted time.

Life with Hugh has been a rollercoaster to say the least. His health needs are both complex and challenging. He requires 24-hour care due to his ability to stop breathing without warning and I have resuscitated him more times than I’d care to remember. He is fed through a gastrostomy tube, he is visually impaired and his mobility is limited – he remains unable to sit or stand independently.

On paper, he is a profoundly disabled, life threatened and life limited little boy.

In reality he is perhaps the happiest child I have ever met.

His smile lights up a room and he takes such pleasure and delight in the simplest of things – the wind blowing his hair, the feel of Velcro, music in general, but in particular the opening bars to The Circle of Life from The Lion King, silly fart noises made by his big brother (boys eh?), a warm swimming pool, the taste of chocolate… When he laughs, you can’t help but laugh along. When he smiles, you can’t help but feel happy. Despite the limitations of his condition he has developed his own way of communicating and he can be quite forceful, stubborn even, in his objections to things like physiotherapy or getting out of bed too early in the morning.


Hugh is nearly 6 now. He still doesn’t have a diagnosis.

He’s on a couple of research studies both here and in America and at some point, one of them may be able to decipher his DNA and pinpoint the specific difference that’s made Hugh so, well, Unique! And no doubt if, and when, they do, it’ll be something suitably obscure and we’ll still be part of the rare disease team, making use of the new Rare Disease Centre here in Birmingham.

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