The newest member of our NEY GMS Patient and Community Forum, Lisa Beaton, joined us earlier this year with a real desire to make a difference – particularly as an advocate for families living through the challenges and uncertainty of a diagnostic odyssey. Here, she shares her personal journey and all the emotional ups and downs she and her family have encountered along the way, together with her upbeat approach and determined optimism for the future.
A Collection of Diagnoses
I’m Lisa and I am a parent-carer to our 15-year-old daughter (Amelia, nicknamed Minx) who has an unknown but thought to be genetic, neuromuscular disease which affects her systemically. She is medically and physically complex, cognitively typical and neurodiverse.
She’s also sassy, funny, creative, knows her own mind and is VERY determined.
Over the years she has collected many different individual diagnoses (over a page of A4 currently!) but nothing that unifies them together. The best way I can think to describe it is a bit like having the handle and all the spokes of an umbrella but not the covering part that actually keeps you dry and is useful! If I had a pound for every time we have been told she’s “very complicated”…well suffice to say I could probably afford that Chanel handbag I’ve been lusting after!
Our three older children have various diagnoses too including congenital heart disease, gastroparesis, autism with a PDA (Pathological Demand Avoidance) profile and sensory processing disorder. As I’ve often joked to my husband, together we have made fantastic, unique and brilliant children, but genetically we are clearly a car-crash!
Our initial conversation about genetics was with a consultant when our daughter was only 9 weeks old. To be honest, there was so much to take in at that point that it didn’t really register with my husband and I that this would be such an important pathway; nor did I have any real understanding of the subject other than in a very lay school-biology kind of a way in which I dimly remembered reading something about if you could roll your tongue, then at least one of your parents had to be able to do so as well!
It wasn’t until our daughter was a hospital inpatient aged 6 months that we had further conversations around genetic testing and her bloods were taken. We thought we would get some answers in the following 3-4 months as the neuromuscular team were reasonably confident they knew what was causing her symptoms; however this turned out not to be the case and none of the genes they tested yielded the answers we so desperately wanted.
Three months after the bloods were first taken she had a skin and muscle biopsy which only muddied the waters still further. Instead of giving a clearer indication as to whether her syndrome was as a result of a neuropathic disorder (affecting the nerves) or a myopathic syndrome (affecting the muscles), the samples showed evidence of changes to both but neither conclusively.
The Challenge of Uncertainty
Throughout the years we have had some very uncertain and challenging times and, at least for the first few years of her life, with every new hospital admission or a meeting with her different teams and consultants, I assumed that this would be the moment of epiphany.
In fact, prior to our daughter being born, it sounds naive to say, but I had no idea that you could be undiagnosed! My experience of medical complaints thus far had been that you went to a GP if something was wrong and then they either dealt with you there or referred you on for further tests and/or a consultant appointment and a treatment pathway would commence.
After nearly 5 years of ruling out many horrible and scary conditions that she didn’t appear to have (which brought some relief but still left us feeling terribly alone) and several years of me badgering the neuromuscular team asking what more could be done, we were invited to be included in the Deciphering Developmental Disorders study (DDD). But 2 years after that, we still hadn’t heard anything.
Thereafter, there was considerable excitement around the 100,000 Genomes Project and in 2015 we were asked if we would like to participate in this. It was only in 2019, and almost as a side note, that I found out during yet another inpatient admission that initial testing via the 100,000 Genomes project hadn’t yielded any answers as to the cause of her difficulties.
I would be lying if I didn’t admit to being disappointed by the lack of findings but, equally, I am quite pragmatic and have tried to find some peace in living with the unknown. After all, to some extent we all do that in other areas of our lives anyway.
For me personally, I couldn’t live at a level of constant expectation, with all our lives on hold. It was important to us as a family that we recognised and celebrated the wins and the milestones achieved, particularly in the face of some nay-sayers and predictions that had been proffered when she was a tiny baby… [She] won’t crawl and may never walk? Certainly, never have functional handwriting? And there were other hush-voiced concerns about life expectancy/life limiting/degenerative too?
I won’t deny that even now, nearly 16 years on, there aren’t moments when I am frustrated by the lack of answers. In part this is because my daughter herself, as well as our other children, have their own questions. Also, because it makes accessing services, filling in forms and trying to get travel insurance (predicting all eventualities) much trickier than they have to be! She doesn’t fit into a nice, neat tick box but who wants to be the same as everyone else anyway?
Given my families lived experiences of genetic testing as well as rare and undiagnosed conditions, I have long been keen to support and raise awareness to fellow parent-carers and professionals on the idiosyncrasies of the undiagnosed/rare disease pathway.
Syndromes Without A Name
To this end, I became a Parent Representative Volunteer for SWAN UK – Syndromes Without a Name (the only dedicated support network for parents and families of undiagnosed children and young people in the UK) in 2015. And in June 2023, I joined the Patient Participation Panel of Genomics England. From there, I became aware of the regional Genomic Medicine Services (GMS) and applied for a position on the Patient Forum of the North East and Yorkshire GMS.
Over the last few years, I have also been privileged to be involved with a creative bioethics project about the lived experiences parent-carers face in having a child with rare and/or undiagnosed complex needs. Me and my fellow participants explored this through the mediums of creative writing, collage, poetry and graphic art.
I am a foster carer and, in my spare time, enjoy baking, craft projects and being ruled over by naughty but sanity-saving dogs as well as a mad kitten and a geriatric cat.