Olivia, Sophie and Evie together

Children with rare diseases – what it’s really like as a parent

28th February 2017

It’s Rare Disease Day, which means so many different things to different families. To raise awareness of what living with a rare disease is really like, Mum of three Jo Clough writes about her life with Olivia, Sophie and Evie, who all have a rare and undiagnosed condition.

Settle down with a cuppa for this one, its’s a long but beautiful read.

Family. There’s no real definition, it’s simply a unit of love, support and care, I think. My little unit consists of myself and my girls, Olivia 15, Sophie 13 and little Evie who is 8.

We’re a happy little unit. Are we unique? Well every family is, isn’t it? That’s how I see it. Simple.

An interesting fact though is that my girls have a genetic condition so rare it hasn’t even got a name, well it has, it’s called a defective PMRT7 gene…the geneticists gave it a laboratory label!

My girls are three of only six diagnosed in the UK. It was only discovered two years ago, via the Deciphering Developmental Disorders Project, set up to find new syndromes for children with undiagnosed conditions. I agreed to take part as I was assured the only invasion would be one saliva test, done, sent, forgotten. Then two years later, a phone call from Leeds Genetics saying, ‘We have a diagnosis for the girls, it’s brand new, exciting…’ The geneticist almost shrieked with joy at me but I felt no emotion. I was interested and fascinated, of course, but all I wanted to know was the impact on the girls and could this be of any advantage to them? ‘No.’ Is it life-limiting? ‘We don’t think so.’ Fine, we move on then!

Back to the beginning

When Olivia was born, she looked ‘different’, the professionals said. The developmental delays ironically became textbook delays and by the time Sophie was born there was much excitement in the medical world to find a diagnosis.

Not by me though, as I realised early on that Olivia is Olivia, this was going to be a lifelong situation and the need for the right intervention and support was more important than a label diagnosis. I stopped the invasive tests, bloods, MRIs, urine samples (nightmare with toddlers who are not toilet trained!) when Olivia was about 3 and Sophie a baby. I know exactly when I said no more.

‘I just want to test for this,’ the Paediatrician said. He told me the name of the syndrome he was testing for almost as a whisper. ‘I don’t think they have it, I just want to rule it out. Results will take 6 weeks.’

Of course, I went straight home and onto Google. The words I can still see are, ‘Death by the age of 10’. Words fail me as to my feelings. I then read on, thinking ‘No, that’s not the girls, the girls don’t have this…’ Rationally I knew they didn’t. But I had to wait weeks, knowing this syndrome wasn’t what the girls had, but still having that late-night worry (manic head monkeys, I call it) overwhelming me.

Of course, I was right, the test came back negative but it was then that I said, ‘No more tests’. I was concerned that while awaiting test results for ‘an answer’ I would lose sight of what mattered – my girls’ needs.

Between then and now there’s a whole book that could be written!

Looking to the future

Life is beyond the ‘Why me? Why my children?’ The next stage of ‘Why not me? Why not my children?’ has passed and now it just is! Evie came along and I knew she had ‘Clough Syndrome’ as I call it. The medics disagreed as she didn’t have the dysmorphic features at birth and her delay wasn’t as obvious as the other two, but I knew and I was right!

The girls have symptoms and wide-ranging medical needs. They include significant learning disability, low muscle tone, very wide hands with short fingers which is very impacting, their gross motor skills are affected, epilepsy, (atypical /night time absences and generalised) speech and language delay, astigmatism and strabismus (eye complications requiring operations in Olivia’s case).

Sophie has hearing loss caused by cholesteatoma (ear tumours) and Olivia has significant ‘low functioning autism’ traits and meltdown episodes too. None of them walked before they were 3, Sophie was 5. We have gone through leg splints and walking aids for all three progressing to a wheelchair and Piedro boots for Sophie (specialist made boots to aid balance and walking), hearing aids, night-time incontinence nappies…oh, and eczema, but that’s a minor ailment comparatively, various creams manage that one.

There are countless appointments with neurologists, occupational therapists, physiotherapists, epilepsy nurses, learning disability nurses, ENT specialists, paediatrics, orthoptists, orthotics, endocrinologists, dieticians and educational psychologists. That’s before the constant meetings and discussions with their schools where they all have full one-to-one support.

Jo with her three girls

Jo with her three girls

I’m the Mum that’s had the horrific call from school, more than once, ‘Sophie is not breathing and blue and we’ve called an ambulance’. I’ve paced hospital corridors when the girls have had operations, the longest was 7 hours, that was a tough day! There’s an ever-evolving essence to the girls’ needs, Olivia started her periods and doesn’t have any self-care skills, let alone the understanding. That took me 18 months and some difficult situations in order to have them stopped medically with ongoing intervention.

Gaining some perspective

Last year, I counted on my calendar over 100 medical appointments, having three disabled girls keeps me busy! I never dwell on the career aspirations I had, it’s just how it is. I’m a single parent these days, again having three disabled daughters can take its toll on every aspect of your life.

But I am driven for my girls’ happiness, sometimes this makes me a hard-faced soul, I’m the one at school meetings without emotion, just the tenacity to achieve what my girls need, while others present often end up in tears.

I see it simply though; the girls are here and happy. It’s not a sad situation or one requiring sympathy. I encounter ignorance quite often, comments in the shops or people staring, ‘professionals’ who should know better, the patronising ‘I feel so sorry for you’ or ‘I don’t know how you do it.’ No, because you’re not me and I’m not you. I often respond with ‘We all have a life story, but mine just happens to be very in-your-face obvious!’

I often get people saying, ‘How unlucky to have three children with Down’s syndrome.’ It depends on what mood I’m in and the context to which it is said as to my response. I may calmly explain that although the girls have dysmorphic features, similar to that of people with Down’s syndrome, my girls have a different diagnosis and, actually, I’m a very lucky Mum. Or I may choose to give a very loud public lecture questioning why on earth am I unlucky, I have three beautiful loving girls.

You see, having the girls has taught me so much I could never have learnt without them. Kindness is everything. My girls are the most kind, generous, loving little angels. They just want to be loved and love others. It’s given me what I call soul goggles. I have no time for the self-indulgent society of shameless selfies and the ‘Woe is me, I have a cold,’ types.

But also, I have what I call my inner circle; family and close friends who really are supportive. From practical help with the girls, to ears that will always listen. My cousin’s daughter, Lucy, passed away a couple of years ago, she was 20. She had a very rare cancer and fought for four years. Visiting Lucy, a terminally-ill teenager, taught me how damned lucky I am that my girls are here and happy.

Just like any other family

And that is how we live, my girls and me. I don’t have to worry about them leaving home, they will always be with me, I will always be their carer, we go day by day. There are battles, I have to really shout loudly sometimes to get the girls what they need in life, health and education.

Is it solitary? Well no, I just get on with it knowing that at the end of each day there’s the four of us, usually sprawled out on the settee reading a Mr Men Book. Then Sophie might accidentally bash Evie with her elbow and then Olivia will get involved and take the moral high ground…so we’re just as normal as any other family unit of love, my girls and me.

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