My Journey with Angelman Syndrome. Why end a 23-year NHS career?
Updated: Nov 11, 2022
On my last day working for the NHS, after 23 years in a job that I have enjoyed greatly and with colleagues I am grateful to have, it seems appropriate for me to reflect on what has led me to give it up.
Into Biomedical Science
I graduated from Uni with a Biochemistry degree and a desire to do something to help people. At the time, NHS Biomedical Scientists were poorly paid, but it was what I wanted to do. Fortunately, for me, not many other people did, and I got a job in Microbiology at the Western General Hospital in Edinburgh. I found Microbiology interesting and got to do an MSc whilst working. Looking back, I was lucky to be offered these opportunities and I enjoyed working and playing hard.
5 years later I was married, and my husband was relocating to Glasgow. There was a job going at Glasgow Royal Infirmary and, even although the recruitment problems of 5 years earlier had eased due to increased salaries, my 5 years’ experience saw me safely through the interview process. Little did either me or my new boss know at the interview that I would be pregnant when I started the position! They took the news well and I enjoyed the challenge of working in a different laboratory; being able to look from different perspectives is helpful to deepen knowledge and understanding.
Another 5 years, and now two babies later, I got a rare opportunity for any working mother. I was successful in securing a promoted post whilst maintaining part time hours. I am still grateful for the opportunity to progress my career and maintain a work-life balance. I know that I worked hard for every hour I was at work and was productive. Yet even all these years later, mothers are often forced to choose between their families and careers.
Two years after this promotion, my youngest daughter, Leia, was diagnosed with Angelman Syndrome (AS), a rare genetic disorder which means:
she cannot use spoken words to communicate
she has trouble sleeping (arguably we had more trouble with 2 hours per night)
sensory processing difficulties (although we didn’t know what those words meant at that time and at the time was not documented anywhere, other than balance and motor control issues)
an excitable personality (which isn’t always as good as it sounds but does lead to some great fun).
It is fair to say it was a life-changing diagnosis. At the time, we were swept along by the sea of appointments, we actively encouraged them and sought them out. I remember thinking on several occasions that whilst no-one really knows what you are in for as a parent, and the books you can buy only tell you so much, at least we had experience of typical family life. This new, seemingly alien, world of disability came with no experience and few manuals. The paediatrician asked us to remember that we were leaving with the same daughter we walked in with. It was good advice but our own limited experience of disability and everything we encountered from that point on suggested that our daughter was different. I didn’t question that until much later and I certainly didn’t realise at the time that it was societal expectations and assumptions, not genetics, that would be the real cause of Leia’s disability.
As such, Leia left playgroup and other groups amongst lots of mummy tears and took up a place at an Additional Support Needs (ASN) nursery. She cried continually for the first year, but that was where she was meant to be. Any fanciful dreams of her joining her local nursery had been swept away. Until writing this blog, I hadn’t thought about the harm that nursery caused or that her whole life changed so quickly as she began her life in disability land, hidden from society. We did try to work hard at helping her be more settled and we didn’t know the extent of the upset at the time. We were doing the best with the knowledge that we had at the time. She began to cope much better at nursery when she got a bus to pick her up and drop her off.
Communication was always our biggest concern. If we could communicate thought, things would be much easier. What an irony that we weren’t listening to her communicating with us about how unsettled and unsure she was. We followed the SLT guidelines as much as possible with the whirlwind that is a mobile toddler with AS. “Something Special” on CBeebies was a regular feature to help us teach Leia Makaton signing. It was always obvious that Leia could understand what we were saying, and I now know that this was a big help towards us getting SLT input and their help in getting her a communication device. I also now understand that the work she was doing with SLT was not (as it should have been) to improve her communication, but to demonstrate that she had the pre-requisite skills that showed she may be able to use such a device. We were always looking for the silver bullet of a communication aid that would enable Leia to communicate effectively.
We welcomed our son into the family in 2011 and I took a sideways move into a much-coveted training role two years later. For the first time, I received a little negativity about how I would manage training part time. However, my determination and everyone else’s lack of enthusiasm meant that I took the role on. It turned out to not be exactly as I imagined, but I have still enjoyed the work. At that time, things at home were trickier. Leia was displaying some so-called challenging behaviour. We sought help and were rebuffed at every turn as this was seemingly an expected part of AS. I knew that this couldn’t be right, as it wasn’t a good situation for anyone. Eventually we got help from a local charity. This is the single biggest regret I have of all the decisions I have ever made. The advice we got went against our parental instincts, but once again I told myself “It must be okay, this is different, she is different”. I realise now that the techniques and principles were based on ABA (Applied Behavioural Analysis) approaches. These are now widely criticised by the autistic community as harmful. We were told that we should snap her out of behaviour by any means possible and that it was okay to restrain or seclude her if we had to. Don’t get me wrong, we weren’t beating her, but we were essentially ignoring her communication which must have caused psychological damage. Many people still justify these methods because they want disabled people to conform to societal norms. I am not known for emotional outbursts, but thinking about this is deeply distressing for me, never mind Leia.
On a more positive aspect we discovered sensory processing and began to understand it’s impact on Leia. We got some OT exercises to do from a charity called Brainwave. This felt good, we were doing something that was positive and on reflection was one of the first positive steps we made in our journey to enlightenment.
When Leia was 7 we went to a family conference by AngelmanUK. This was the single most pivotal point in our journey with disability and AS. We learned for the first time that no communication system was going to be successful unless we demonstrated how to use it. This is a technique called modelling or aided language simulation. It was so simple that I couldn’t believe I hadn’t thought about it before, after all, it is how everyone learns to communicate! I also couldn’t believe that not one professional up until this point had told us about it, especially as the evidence-base began more than 30 years before. I was acutely aware that this information was not readily available for families and, from that point on, I was determined not only to help Leia but other families.
I enjoy learning and have attended many courses and conferences and watched many a webinar since that first conference and have shared all that I learned. I have shared things on social media, helped individuals who reached out to me, ran a communication club, presented at and organised conferences, wrote communication guidelines for AngelmanUK and was a trustee there for several years, as well as with my current role in the Education and Communication Team with Rett UK.
We were fortunate that Leia already had a PODD communication book at the time of the conference, and even more fortunate that she responded quickly to modelling, but only when we figured out how to use it. I know that certainly helped with our motivation at the time. Full credit to those who persevere for years with little indication that it is making any difference. Over time Leia’s progress slowed, but I struggled to find information for those needing advice beyond beginning modelling. A couple of years earlier at a 5-day intensive literacy course, there was a meeting of Angelman mums who want to change the world and one of the things that had been suggested was a PGCE specifically on complex communication needs. I began the course in 2018 and found it to be worth the time, energy and expense.
Whilst I certainly learned more about modelling and literacy, my biggest learning curves came from my project and the behaviour support course. I looked at the communication of three people with AS for my project. It became evident that the essence of what communication was had been missing from support the families had been given. It made me question the purpose of speech and language therapy and the information I gave. The behaviour course was even more eye-opening. It reiterated the message that behaviour is communication and that everyone has the same underlying needs, those with disabilities are just at significantly more risk of not getting those needs met.
Final piece of the puzzle
I graduated from the Partners in Policy-making course in December 2021, after a long COVID-interlude. It is a series of leadership courses about disability with the underlying belief that the only way to improve things for disabled people is to have an integrated society whereby we recognise that everyone has gifts and skills and are equal members of society. It made me consider the knowledge and skills I had accumulated over the years and that, as a parent, I was only having limited impact in affecting the change I so desired.
Into the future
I still enjoy my NHS job; I enjoy getting out of the house and thinking about something completely different. I am lucky to have good colleagues and I will certainly miss having people around. Then, of course, there are the terms and conditions which are difficult to give up. But the fall-out of the pandemic has been hard on our family. I had to admit that I could not continue to do everything. So I am certainly not leaving the NHS without a backward glance but I am very excited about what the future may bring as I commence my new career helping families and individuals with their communication needs and advocating for better lives. I aim to be the type of support I wish I had been available to me. Will it work out? Who knows? But I do believe you should never regret the things you try, only those you were not brave enough to attempt.