The Rare Conundrum
Last Reviewed 3/03/2020
If I had a penny for every time my children have confounded the medical profession, I would as the saying goes, be a very rich lady. I won’t dwell on the fact that if I had a penny for every time they have confounded me, I’d also be very rich…and probably less wrinkled, less dependent on caffeine (IV drip anyone?) chocolate and wine but that’s another story.
However, let me elaborate why my precious cherubs have elicited such responses as ‘we have never seen that before’ or ‘that’s very unusual/odd/strange’ and my personal favourite: ‘that just doesn’t happen!’ when confronted by my child doing exactly what doesn’t happen right in front of their eyes. You see of my four children, well two of them at least, are considered ‘rare’. On the whole I try to see that as a positive, albeit at times I think the whole world should appreciate their uniqueness by observing them inside a Perspex case in a museum but usually those days are few and far between. Two years ago I wrote a blog piece to explain what being rare means and how it affects our family.
Rare Disease Day is once again looming large upon us − 29th February 2020 to be exact. This year marks the 13th International Rare Disease Day which is held every year on the last day of February. Given that every four years the month of February inveigles an extra day into the calendar month and thus is a little bit quirky in itself, it seems especially fitting to celebrate all things rare in a unique month!
You may find yourself thinking that you don’t have anything in common with a rare disease or even know anyone affected by such a thing but if you will spare me a little more of your time, I’ll explain why in actuality, this misconception is most likely wrong. Based on current data it is accepted that 1 in 17 of us will at some point in our lives be diagnosed with a rare disease and the majority of them, being so rare, will have no cure. Some of those rare diseases may be transient, others life changing and in the very worst cases, life limiting.
It is not my intention to scare you or depress you (how am I doing so far?!). Merely to heighten awareness around the fact that rare diseases, well really they aren’t that rare and if you personally aren’t affected by one (or more) you are bound to know, possibly even be related to someone who is living with a disease or condition that falls under the rare moniker.
All our children have unique and/or rare genes and in a further twist of fate, we only discovered their ‘foibles’ for want of a better turn of phrase, in reverse age order! I sometimes feel I have to add that bit in almost apologetically – the fact that we discovered this from youngest backwards I mean.
It was a bit of a poke in the eye with a sharp stick moment (understatement) when our then 17-year-old (now 20) was diagnosed out of the blue with a congenital heart condition, solely as a result of a medical he had undergone because of his chosen career path. Not only was this new diagnosis very scary − well to us as parents anyway, he took it with the brevity of teenagers and their immortality concept − I did have a bit of a why us moment?
Considering there are approximately 7.8 billion people on earth, you have to wonder what the odds are that two people who are not related to each other in anyway other than by marriage (we have been asked by so many medical professionals over the years whether we are cousins/inter-family marriage and such like!) manage to meet, marry and have kids, all of whom likely have extra needs all because of wonky DNA (technical term wonky!) from each parent; whose chromosomes whilst not an issue individually, in combination have resulted in the difficulties our children face. There was a distinct wanting to rage against the unfairness of it all.
Moving on. Our almost 17-year-old is diagnosed with high-functioning autism, sensory processing disorder and traits of Pathological Demand Avoidance (PDA). Whilst it is right and proper that autism in his presentation is now more often referred to as autism spectrum condition (previously stated as a disorder and within the medical/scholarly community, it largely remains so) it would be unfair to gloss over the difficulties that this diagnosis brings with it. Over the years, it has been hard to not understand each other’s perspectives. At times it’s felt as if we were each speaking a foreign language with no hope of translation or commonality. It’s been scary and worrying and frustrating. Autistic people can find social interactions and communication in general problematic. There are so many surprising ways that we interact with each other so interpreting body language, tone of voice, facial expressions and even the spoken word can lead to a whole host of misunderstandings and anxieties which have knock on effects on self-esteem, mental health and well-being.
To witness his struggle to make sense of this world, to comprehend that the things we say are not always literal – only years later can we laugh about our miscommunications: the expression I used to use when in a rush to get out of the house in the mornings for school: ‘C’mon, get a wriggle on!’ shouted in exasperation and then looks of disbelief at the child appearing to body-pop across the kitchen, which resulted in more shouting (not my finest hour). Or the look of horror on his face when I would say things like ‘Keep your eyes peeled’ if I was looking for a car-parking space.
Sensory difficulties in so many aspects of life too have taken their toll. Going out to eat at a restaurant, going shopping, holidays, day trips and even visits to family and friends require meticulous planning and contingencies. The intensity of the world around you when you are over stimulated by your senses − hypersensitivity − and your ability to regulate them must be extremely stressful for many autistic people and especially those with sensory processing difficulties. There is an excellent video courtesy of the National Autistic Society which demonstrates this very well (be warned before viewing, this could be triggering for some people) which my son tells me is very representative of how he feels when out in public. I know the first time I watched this I felt thoroughly over-whelmed and exhausted, craving peace and solitude by the end.
So far, so not particularly rare or unusual you are probably thinking. However, where things get a little more complex is with our youngest two children, G-Man 13, and Minx 11. They may be the youngest but are truly determined not to be left out and are the two largely responsible for causing the medical community much vexation. For the time being we know that Minx has an as yet, undiagnosed neuromuscular condition, likely genetic in origin and it is likely that G-Man has a variant of this too.
Minx is the more severely affected but both children are tube fed, had severe reflux as babies, both have dysfunctional swallows related to muscle fatigue of repetitive action and there are various commonalities in their difficulties. Both children are SWANs. This is not a diagnosis. It stands for Syndromes Without a Name and you can learn more here. SWAN UK is the only designated support group for children and families in the UK without a diagnosis and they have provided my family with a life-line, connecting us with other families in similar situations, even though their children’s needs may be very different to my own. It has given us a sense of belonging, people to talk to at all hours of the day and night, balloons after hospital stays, coffee mornings and family days out. I know from my own experience and talking to others how valuable this is in our rare and undiagnosed community.
In the early weeks after Minx’s birth her difficulties came to ahead at the age of nine weeks resulting in an emergency hospital admission and a flurry of subsequent appointments. None of them gave answers. I felt very alone and I pinned all our hopes on every specialist or therapist we encountered. I was convinced for at least the first three years of her life that the next appointment or admission would be the one where we got answers and a plan. But despite being on genetic studies from the age of six months, enrolling on DDD – Deciphering Development Disorders in 2013 and the 100,000 Genomes Project in 2015, at the age of 11 ,we still have no over-riding genetic answers.
I can reel you off a list of conditions: upper limb arthrogryposis, lower limb hyper-mobility, gastrointestinal reflux disorder, gastrointestinal dysmotility, chronic abdominal pain, muscle weakness and fatigue, congenital myopathy etc. Although we have seen specialist consultants in numerous different fields, at many different hospitals and although many differential diagnoses have been proffered, thus far nothing explains why my children require a feeding tube for nourishment, why Minx is a part time wheelchair user, has had to undergo countless operations, tests and procedures over her tender years. Why I can’t explain (to her immense frustration) why she is able to do something one minute but not the next; why she can be running around like her friends and then her legs turn to noodles and she can barely stand, let alone walk; why her hands can hold a pen and write one day but the next it is all she can do to hold her head up; why the things so many of us take for granted are such a battle for her.
I’ve held her in my arms as a baby, screaming as she was prodded and poked, as doctors trooped in and out, relentless personal questions about whether my husband is my cousin or other close relative, examining this body part and that – hers and mine! X-rays, MRI’s, needles, blood tests, skin biopsies, muscle biopsies.
I’ve handed her over to anaesthetists, surgeons or gastroenterologists more times than I can recall, laughed about her antics and singing (caterwauling?!) over pre-meds (an early indication of what she might be like when intoxicated in later years I suspect) manipulated her joints for intensive physiotherapy, tried different diets and multiple medications. Soothed her, cajoled her, bribed her (she is very good at extortion!) wanted to yell at her for being non-compliant but secretly proud of her feistiness and determination that has got her this far.
G-Man too has had more than his fair share of tests, procedures, trials and tribulations. Both kids have been through more in their young years than many adults do in a life-time.
I’ve paced hospital corridors, driven in a state of recklessness when I should have called an ambulance, ridden in the back of them on blue lights, cried, put a brave face on, been meek when I should have called out poor practice and learnt to fight my children’s corner when necessary.
I will always have respect for those in the medical profession but equally I no longer place them on a pedestal or assume they know best. They know their speciality, they don’t know my child/ren. It sounds a bit clichéd and twee but I have learned such a lot over the years and I do consider it a journey of sorts.
These days I don’t often dwell on the fact that we don’t have a diagnosis and I try not to worry about what the future may bring. Other than typical parental worries: will they drive me to distraction by refusing to wear a coat even though it’s minus two with a wind-chill of minus ten and snowing? How shorts are those shorts?! Will she stop stealing my lipsticks, will he ever hang up his towel instead of leaving it on the bedroom floor, will they do well in their exams (not because it matters to me as such, more that it opens doors for them),will they have a nice group of friends, make only the kind of mistakes they can learn from without devastating consequences?
But sometimes in the small hours, or when something new rears its ugly head or when they ask me questions I can’t answer, those worries can’t be so easily silenced. And the truth is we don’t know what the future holds. I can waste time worrying about the ifs and buts and maybe’s but down that path lies only doubt and pain and I won’t give it headspace.
Tomorrow is never a given for any of us so we may as well make the most of today.
Lisa is a mother of four and has three children with extra needs. She writes a blog about her experiences, Definitely Not the Waltons. You can read a full length version of this blog on Lisa’s website.