Amelia’s Story

July 17, 2018
When I was asked to write an account of what it’s like to have a child with special needs, I honestly didn’t know where to start and it has taken some mulling over to put the words on to paper but today, I found a place to begin.

Accommodating and facilitating Amelia’s daily needs is so much a part of our every day routine that it has become the norm, like brushing our teeth, having a wash or making a cup of tea….if only I had the luxury to drink it whilst it was still hot!

I can do most of the preparations and checks and balances that keep our daughter well in my sleep. Medications that take 30 minutes a day to prepare. A calendar full of dates for clinical appointments and medications that need to be changed on specific dates. My pin board is crammed with outpatient appointments both locally and in the UK (already up to November!) and my cupboards are over flowing with syringes and tubing, gauze’s, feeding milk and enough paraphernalia to keep Boots in good supply for at least a month.

I have become somewhat flippant in my approach to it all, something which if you had ever suggested when this journey started some 5 years ago, I would have scoffed at but since it has become just one of those things to factor in, you largely forget that not every parent out there is dealing with something similar.

So why today did the words start flowing and I start thinking rather than micro-managing things? Well today I share in part of a journey that no parent should ever have to face – burying a child. A beautiful one year old girl, gone far too soon and taken before the Doctors could even give her parents a diagnosis.

Today her family laid their baby to rest for the final time and myself and many others either attended the funeral in person or sent letters, card, flowers, prayers and donations to an end of life children’s hospice. Facebook, our main contact with each other, is filled with pictures of balloons, candles and prayers, all dedicated to this little girl and her family.

Whilst I have never had the privilege of meeting her or her family in person, we have formed a strong bond, a united front and a shared knowledge that we may never get a diagnosis for our children.

For me, whilst I cannot begin to imagine how hard it is to be told that your child has a terminal illness or condition, probably one of the very hardest things about coping with a medically complex child is the fear of the unknown or what lies ahead; whether her condition could be life limiting at the very worst or degenerative to an extent that neither her nor the lives of those surrounding her can be imaginable and that is a dark place that no one wants to go. This has today given me the inspiration to try and share some of our journey so far.

It is not my intention to depress you (probably not doing so well on the bringing you down front right now?) and when I had first envisaged pulling something together for this piece, it was to exult how much we had learned, how far we have come as a family, the joys that our daughter has brought to us despite and in spite of the difficulties she faces.

Whilst this is indeed all true, it would be remiss of me not to think on the early years and to address the unpredictability’s that we still face – because this in itself really demonstrates the huge importance and impact that the services of the Jersey Children’s Charity can have to a family in our situation.

The “Minx” as she is affectionately known completed our family towards the end of 2008 and we delighted in the novelty of all things pink after 3 gorgeous boys. However, even in the euphoric 48 hours after giving birth, I was faintly disturbed by the midwives christening her “Vampira Queen of the night” due to her incessant shrieking and very unsettled demeanour but just put it down to having a fussy baby. With 3 already at home, I was confident that I could settle her with the tried and tested routines and that frankly with homework, school runs and one still in nappies, she would just have to fit in.

By 2 weeks, that mother’s instinct of “something” not being quite right was firmly in existence but it sounded daft, especially as a 4th time mum saying to the health visitor that she just wasn’t right in herself, screamed a lot and only fed in very short bursts. She’s just a girl ruling the roost was a phrase I became used to.

By 6 weeks however, it was obvious that the Minx was uncomfortable, her neck was stiff on one side and her weight gain was poor. We were referred for investigations but no one seemed overly concerned or in a rush to do anything so we waited for appointments to roll round.

Routine injections at 9 weeks turned what should have been an unpleasant but largely uneventful appointment into the beginnings of our roller-coaster journey when the clinic Doctor took one look at Amelia and asked Robin Ward to see her urgently.

That particular day was largely a blur of Doctors and X-rays, questions, prodding, poking, more questions and more Doctors. As fast as one appeared in the room, another one appeared hot on his/her heels…and the amount of times that hubby and I were asked if we were related other than by marriage would have been funny if I hadn’t felt that panicky, out of control and frightening whirl of the day unfolding.

It happened to be half term so our other children were with us. I still vividly remember standing in a room with the others half in and half out the play room, being told that our precious, beautiful, tiny little girl likely had something called athrogryposis – contractors or curving of the joints; that I should not Google it as certain forms were generally fatal by the age of 2 and no they couldn’t tell me what, if any form she had; I would just have to wait for referrals to the UK and I should go home and try not to worry…………

3 weeks of virtually no sleep, no appetite and considerable stress followed before we saw a Doctor in London who confirmed the diagnosis of upper limb arthgryposis with some additional lower limb concerns. It’s classified as a rare condition – depending on who you speak to, anywhere between 1 person in 3,000 to between 1 in 11, 0000-12,000.

The consultant prescribed an extensive regime of thrice daily physiotherapy and was able to confirm that her form of arthrogryposis was not life threatening but because other issues were becoming apparent, we would need to seek further specialist involvement. In fact, the way she held her head awkwardly on side was actually because she was protecting her air way…scary stuff.

Fast-forwards through chest infections, swallowing and feeding issues, painful physio that left her screaming and the whole family emotionally drained, we were sent for a week’s in-patient stay at Great Ormond Street Hospital to see if there was something else playing a part in Amelia’s problems.

A week of distressing tests and examinations revealed that Amelia likely had some form of syndrome, a neuromuscular condition. Initial tests pointed to something called congenital myasthenic syndrome. A disorder causing severe muscle weakness, especially involving breathing, swallowing, feeding and the muscles of the eyes and causing delays in gross motor skills such as crawling, walking, sitting.

Once again we left the hospital reeling, with discharge sheets stating we needed open access to our children’s ward because the condition can become so severe in a very short space of time, in worst case resulting in death from respiratory complications. With the knowledge of genetic testing and muscle biopsies in our future, the need to be vigilant with any form of illness, for the relentless and ongoing nature of appointments and therapies and uncertainty.

It was at this point, I realised how very differently men and women cope with these sorts of things. I remember wondering how we would get through the coming days and weeks and whether she would even survive. Meanwhile my husband was asking whether she would ever drive a car, live independently, get married…..we had heard the same news yet were pole axed in our views of how this would affect her.

That first year was extremely difficult not just emotionally but also financially. I think we had 6 trips back and forwards to the UK. Whilst my flight was covered under the Patient Travel scheme from the hospital, my husband’s wasn’t. We had a 2 year old we couldn’t leave with anyone so he had to come too, and we had 2 other children in school who we farmed out to family and friends when necessary.

When Amelia was admitted to GOSH, I stayed on the ward with her but Martin and our little boy had to stay in a hotel. Sometime we got lucky and there was a room in one of the family accommodation units for which only a small donation was appreciated. Other times, we faced dingy hotel rooms at £100 p/night – nowhere fancy, but London prices.

Meals, snacks, train fares and coffees to keep us going through the relentless days, we had to stump up for and it wasn’t something we had factored into the budget. Charities like Jersey Children’s Charity will generously support you but they weren’t around at the time of our initial appointments. Thank goodness now with the help of volunteers and sponsors, the charity are able to help many families in this very position. I know it would have made all the difference to us to have that support in those initial dark days when financial stress in addition to everything else was just something to compound the worry.

Over the last 5 years, Amelia’s genetic tests have all come back negative for congenital myasthenia. We have had more inpatient stays and consults. The Doctors have ummed and ahhed and prodded and poked a bit more, taken samples from places you don’t want to know about and scratched their heads….hope they washed their hands first!

They have veered between being fairly confident that they knew what we were dealing with to admitting she is a conundrum who ticks some boxes and totally scribbles on the rest of their paperwork. Some tests show both nerve and muscle involvement – which apparently DOESN’T happen in the way she should present – but no one told the Minx that so she carries on in her own indomitable way.

In fact, Amelia likes to keep us all on our toes so we she has faced major surgery to help prevent her refluxing stomach acid into her lungs; the insertion of a feeding tube into her stomach because she cannot eat enough orally to sustain herself and needs the extra calories just to survive. Scopes of her stomach and bowel. A duodenal ulcer and the need to exclude wheat, dairy, gluten and soya from the things that she can eat.

Sleep studies to monitor her oxygen saturation levels at night and the possibility in the future that she may need a bi-pap machine to help her with night-time breathing. Cardiac monitoring that has anyone trying to sleep at night, ranting at the nurses to re-set monitor parameters to the lower of limits because she dings and dongs so much, it’s like a very poor imitation ice-cream van careering down the ward.

She takes 12 medications, many of which are 3 times per day and are designed to help her with her secretions (she chokes on her own saliva), her severe constipation and dysfunctional stomach muscles which means that food just sits in her tummy causing discomfort, pain and bloating instead of moving properly through the gut. She has thickener in her liquids to prevent her aspirating fluid into her lungs when she chokes and we have trialled medications to improve the function of her muscles with limited success.

She has a special needs Maclaren major pushchair – between a buggy (“I’m not a baby you know!” she will tell you) and a wheelchair – for when she is too tired or too weak to walk. She has supports in her shoes to stabilise her wonky (note the use of the technical term!) feet and rolling ankles. We have a low banister for her to help her get up and down the stairs independently – although she still prefers to whizz down them on her behind – easier and quicker!

We have adapted toilet seats and feeding chairs and devices for getting in and out of the bath; the support of a fantastic team of local physiotherapist, occupational therapist, speech and language – she never shuts up but it’s for swallow function; We have a dietician, community nurses so that things like her gastrostomy care can be managed in the home to save umpteen hospital visits, visits to optometry and a paediatrician.

She attends school like most children her age and because of her feistiness and determination – & let’s face it, probably the 3 older brothers at home – she gets on with things in her own unique way. Many of the things we were told as a baby that she would struggle with or not do, well clearly she’s never read those bits of paper or has chosen to ignore them completely.

She’s cheeky and naughty and delicious and completely her own person. The majority of people meeting her for the first time would likely never know there was anything wrong with her (& hopefully we can take a little of the credit for that by working so hard to keep on top of her needs, keeping her well and inspiring her) and if someone happened to comment on the different way she walks, holds her arms etc, it has to be said that one of her older brothers would likely give them a bit of a talking too!! But largely this is all down to her. She has never known a “normal” life or unrestricted muscles that all do as they should do. Her life is just that – hers.

As a Mum, I am always torn between the need to keep her well and resting when she has done lots – down time helps her keep strong and going – and her desire and yes need to be just the same as any other child. My heart has been in my mouth many times as she races up and down the climbing frames at the Jungle Gyms, me worrying about her catching her gastrostomy button or falling, how she will cope with the rest of the day but I would be doing her an enormous disservice to stop her joining in and living life like any other child. So I try to sit on my hands and bite my tongue and smile widely when she seizes every moment of life to the very best of her abilities.

Amelia has taught our entire family to make the most of what you have and what you can do. Not to bring you back on a downer, but we don’t know what or where her future will take her or us so Carpe Diem as the Romans said.

Whilst we do know that she has gained many skills and surpassed a lot of the expectations we had, we don’t know if her condition will progress, deteriorate or involve others aspects of care. We do know that she has lost some movement in her arms since she was previously assessed in GOSH.

The old adage of what doesn’t kill you makes you stronger, whilst it might be trite, carries a vestige of truth. I do consider my hubby and I as the lucky ones in many ways – all too often you hear stories of how marriages break down when sick/disabled children are involved – but it has made us stronger and pull together.

I didn’t think about the implications Amelia’s issues would have on us as a family or on the way our other children have all paid a price. The years of tests and operations and unknowns have been difficult for them, the forgotten casualties in everyday life.

It has been very difficult too for our families and close friends who have supported us and cried with us in the bleaker times and then there are those friends that you hoped would understand and be there but for whatever reasons can’t.

So I have waffled on for long enough and probably shared far too much but maybe this gives a bit of an insight into the journey we are on. None of us know where it will take us, Amelia herself will write those maps and we will tag along for the ride.

Lisa Beaton