Hello, we are the Beatons; myself Lisa Beaton, dad Martin Beaton, older brothers Harry, 19, Jack 15, George 12 and Amelia, ten years old who is our SWAN. It also seems likely that George is a SWAN too.
Amelia is feisty, lively, determined and an excellent mimic. She loves drama and acting as well as unicorns, glitter, anything sparkly and stealing my makeup! She is popular in school and has a great bunch of friends who rush to greet her at school in the mornings and help with her bag, coat and wheelchair.
When Amelia was two weeks old, I knew something wasn’t right but I couldn’t say what. I called my health visitor and explained I was worried, especially as she seemed so stiff and uncomfortable. However, she dismissed my concerns as being over-tired and the first time mother of a girl after three boys!
By four weeks it was more obvious that there was something that needed investigating from an orthopaedic point of view and we were awaiting a referral. At nine weeks, Amelia had her first admissions of many into hospital where things rapidly snowballed from there onwards.
At the time, we were living in Jersey and although the local hospital had excellent consultants, it was apparent we would need specialist paediatric involvement from different specialities.
From the first ever physiotherapy session, Amelia demonstrated her feistiness and we knew she was going to be a fighter and a tough cookie! Also a noisy one!
She had to endure a thrice daily regime of painful stretches and physiotherapy from 12 weeks of age and over the years she has undergone numerous surgeries, procedures and painful investigations and tests as additional difficulties have presented. She also relies on a wide range of interventions and equipment as well as medications to manage day-to-day life.
We have various confirmed diagnoses relating to individual areas of the body and organs but no overarching diagnosis that unifies and explains the entirety, albeit we know it is a neuromuscular condition in origin.
Whilst Amelia has always made her feelings very well-known, especially if she does not appreciate a therapy or piece of equipment, she has developed a resilience and self-awareness far beyond her years and she is empathic and kind to other young people who have their own difficulties.
She puts her all into life and endeavours to let nothing hold her back. She has aspirations to be an actress and I am sure that if she wants to achieve this in the future, she will find a way to do so.
Our other children have their own issues to deal with as each of them also has a medical and/or developmental disorder and so our lives are always very busy with appointments, meetings therapies and such like. They have also had to get used to me being away from the family home either unexpectedly or for quite lengthy periods of time when Amelia (and latterly George) have spent time in hospital.
In turn they have also developed a strength of character and resilience that will stand them in good stead for the future. They can empathise with other young people affected by growing up with a chronic, long-term medical/physical/developmental condition either themselves or as a sibling.
Amelia has now had so many operations or procedures under anaesthetic that I have lost count, which horrifies and saddens me but is also the reality of living with complex care and health issues. Although in some ways she has never known any difference, it’s important to remember that first and foremost she is a (not so) little girl who does not let her multiple daily interventions stand in the way of what she wants to achieve.
Amelia likes to take ownership of some aspects of her care. When she needs a cannula in hospital, she has mastered the routine to the extent that when she no longer needs it, she likes to take it out herself, under the watchful eye of the nurses and myself of course.
Her neuromuscular condition affects both smooth muscle (eg stomach and bowel) as well as skeletal (arms and legs) so she takes a variety of medications via her gastrostomy (feeding tube) and bowel stoma. She also undergoes daily physiotherapy to maintain joint mobility. Her condition causes overall weakness and fatigue as well as some pain. Unlike many conditions, physiotherapy doesn’t improve her stamina and repetitive actions cause further fatigue of the muscles so it is a daily battle to pace herself.
Amelia is under the tertiary care of Great Ormond Street Hospital and receives regular support from our local hospital, community nurses and a large number of different specialities — last count 14 different areas/teams (and I am pretty sure I have forgotten some too!) There is never a week that goes by without some kind of appointment or investigation.
Having a child with an undiagnosed, likely genetic, condition has changed me forever, hopefully into a better, more understanding person who recognises what the really important things are in life. I know that sounds a bit twee or clichéd, but only when you go through something of this nature do you understand what really counts. You learn to let go of the small stuff and concentrate on the bigger picture.
Until I had an undiagnosed child of my own, I didn’t really give any thought to the fact that people could be undiagnosed! I just assumed that one way or another everyone had a diagnosis, no matter how complicated. I never expected to attend every appointment (for the first few years anyway) eagerly awaiting the elusive diagnosis and then coming away feeling deflated when we didn’t get one.
I also found myself in a world of unknowns. I describe it as my ‘Narnia moment’ – opening a door to a world I never knew existed.
Although I met other parents in therapy groups who had medically and physically complex children, they all knew what was ‘wrong’ with their child and had a pathway to follow. There was a plan mapped out whereas to some extent we were/are making it up as we went/go along.
Doctors and therapists couldn’t really predict what lay ahead and as new difficulties or complexities arose, they couldn’t reassure us that Amelia would outgrow the issues and most importantly whether what she had was life-limiting or life-threatening.
It was reassuring, however, when she reached certain developmental milestones as that did give us all hope that in spite of what she was going through, she was making progress in the right direction.
We did have moments when we were told she would never do this, that or the other — or if she did, it would be profoundly delayed. However, one of the surprising benefits of not having a diagnosis was that actually Amelia carved her own way forward and achieved things in spite of what we had been told.
Due to her profound upper limb weakness and joint contractures we were told she would never be able to crawl so I was delighted and very emotional when bang on nine months she proved everyone wrong and although it was very effortful for her, showed she was determined to write her own rule book!
We are so proud of all our children; each has shown courage and maturity beyond their years both in dealing with their own health/developmental needs and in their approach to helping others, as well as having to accept an unequal sharing of my time.
Harry and George have worked with young carers and when Harry reached the cut-off age, he chose to carry on volunteering for them so that he could give something back to the organisation and pay it forward to other young people.
George is very selfless and as soon as he received a party bag or treat of some kind would share it, often at the expense of himself. He continues to always think of others and we sometimes have to remind him that he too is important and must think of his own needs. Latterly, his own physical health has been especially problematic and he has had a nasal feeding tube in situ for the last 18 months.
Both boys have embraced learning to help with aspects of Amelia’s care on a practical front as well as doing some household chores.
Jack has a diagnosis of autism and sensory processing disorder. The unpredictable nature of Amelia’s medical needs means that at times he has found himself thrust into noisy, chaotic environments which is particularly difficult for him. In spite of this, he will try to cheer her up and with ever-growing maturity and has even spent time trying to comfort or distract her, especially when she is in pain or scared.
The boys are very proud and protective of their sister as they know she has undergone a lot over the years and will challenge anyone who might tease or be unkind to her (themselves excepted of course!)
I can’t actually recall exactly when or how I first found about SWAN UK but now I can’t imagine not being involved with the group in some way or another.
I was a long time lurker before I ever posted and ironically my first proper post wasn’t even about my SWAN but one of my other children! However, the warmth and empathy I received that day was unlike anything else I had ever experienced and it was a safe place to vent in a way that was impossible to do to my ‘real-world’ friends.
I am a member of some other online groups, but without doubt SWAN UK is the most important.
There is always someone to talk to, day or night and even though every young person has different issues or experiences, there is a commonality amongst us parent-carers; a sense of belonging to something very unique and special.
Almost four years ago I decided that I would like to become a SWAN UK Parent Rep volunteer covering my county of North Yorkshire. This was largely because I feel passionately that other parent-carers should know that there is support out there for them. It is all too easy to become isolated or lonely when you don’t know where you fit in, when you don’t know how to access support or advocate for your child and especially when you don’t know what the future holds.
I have found it very empowering to speak of both my own experiences and draw on the experiences of others to professionals and fellow SWAN UK members alike. It has given me a renewed purpose in life, especially as the raft of appointments we have accrued over the years has become so demanding, I have had to give up paid employment. As a result, at times I feel I have lost my own identity, especially when all the letters I receive in the post are addressed ‘to the parent-carer of….’ and in medical meetings I am always addressed just as ‘Mum.’
As a Parent Rep volunteer I am a person again in my own right and have often joked that wearing a lanyard with my name and role outlined on it in meetings with professionals means I have reclaimed some sense of self!
Sometimes when I slip on my SWAN UK t-shirt or hoody I feel like I’m playing at dressing up!
I have also found confidence in speaking to various media outlets which although a little daunting at times, also makes me feel quite proud of myself.
Although over the years I think there has been considerable improvement and recognition for those dealing with rare or undiagnosed conditions, especially with a greater awareness of hidden/invisible illness or disability, it remains of paramount importance that there is speedy access to high-quality support and information.
Services are recognising that there is a duty to provide care to meet a need not a diagnosis. This must always be a priority and professionals must be aware of the valuable support SWAN UK can offer to families like mine.
Genetics and diagnostic testing is moving at a very rapid pace, especially since the 100,000 Genomes Project initially started. Whole exome sequencing will be offered going forward but even with such advances, it can and does take many, many years to receive a diagnosis; and some of us may still have to accept that we will never (at least in our life-times) get a diagnosis for our child.
Even though I think I have made my peace with not ever getting a diagnosis for Amelia, I won’t deny that it hasn’t been hard when tests have either come back negative or inconclusive. It’s not that you want there to be something ‘wrong’ with your child but at least if there is a specific label or recognised ‘fault’ you have a way of explaining things and there may even be quite a lot of information available to you so you have some idea of what to expect going forward.
When we received letters this year stating that nothing had been identified on either the Deciphering Developmental Disorders (DDD) study or 100,000 Genomes Project I did feel a pang, particularly because Amelia herself is beginning to ask questions that we can’t answer for her.
We are lucky that we are a close-knit family and in certain ways, have been brought even closer together by our circumstances.
I think, (at least I hope) a diagnosis would give us reassurance that we are doing everything we can to help maintain or address Amelia’s quality of life to the very best of our and her abilities.
There is always a wondering, a questioning as to whether there is something else that we could be doing or some medication that would make a big difference. Deep down I know that we are doing the very best we can to manage/address her symptoms and future-proofing as best as we are able to do.
Amelia herself has reached an age where she has many questions of her own and understandably has some worries that are difficult to answer completely. She is also angry sometimes that she is different to her peers or that ordinary everyday things are harder for her to manage.
I think for some of our family members it would help them to understand better and whilst I’m hoping it will be a while in the future before any of my children make me a grandmother, they have asked if any children they have are likely to be affected and of course we can’t answer that.
Mainly I feel excited and optimistic. I’m acutely aware of the huge strides in genetics and gene therapy but equally cognisant that they are unlikely to be of any use in my, possibly even in Amelia’s lifetime.
Nonetheless, I try to focus on being proactive and positive because worrying or stressing about things I can’t do anything about is counter-productive and a waste of energy.
We are very much a can-do family and have always lived with a carpe diem (seize the day) attitude – from jumping on a plane with a two-week-old baby to bringing two dogs into our crazy, madcap lifestyle.
Life is for living – as far as I know this isn’t a dress rehearsal so I want to embrace as many opportunities as possible!