It is fittingly ironic that yesterday, we received further communication from genetics regarding the 100,000 genome project (you can learn more about this: https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/) on the eve of Undiagnosed Children’s Day.
Whilst the letter outlined what we already broadly knew (nothing has so far been found to explain the complexities related to Minx and potentially our other children) it also explained what is continuing to be done moving forward and an update for those who agreed to receive supplemental findings such as life-style preventable diseases and cancers.
I can’t deny that I didn’t feel a frisson of something when I saw the envelope bore a return address indicating the contents originated from a genetics department, even though at the same time, I somehow knew that it wasn’t THE letter.
What was that frisson? Excitement? Fear? Hope? Probably a combination of all that and more.
Over the years we have received many similar letters, be they bearing a Genetics department stamp, Great Ormond Street return address or other VERY IMPORTANT post marks. Each time the contents have been broadly the same: nothing identified, no evidence found, very unlikely to be causative and perhaps hardest of all “normal”
As a parent, it can be very difficult to read and very hard to explain to the majority, just how disappointing a “normal” result from a test can be to receive.
To most people receiving “normal” would be a good thing, very reassuring and I won’t deny that sometimes, when the tests being carried out have been for a syndrome or condition that terrifies me, that normal result is much hoped for.
But, and it’s a very big BUT, how can it be ‘normal’ or ‘nothing identified’ when it relates to the conundrum of the young person in front of you? Whose diagnosed medical and physical conditions and arising difficulties span 2 1/2 pages of A4 when listed in correspondence between all the different specialities involved?
How can this test or that test not establish what causes your child to be wracked by pain you are powerless to relieve? Pain that is both chronic and acute, that causes loooooonnnggg days and even loooooonnnnggger nights of broken sleep? That is barely touched by any of the myriad of prescription medications you shuffle through in your box of tricks?
How can a ‘normal’ result explain why you need to pursue therapies, attend multiple appointments with numerous specialities and obtain specialist equipment just to manage a day in the life of?
Let me be very clear: it is categorically NOT that we want something to be wrong with our child/ren; very far from it. It is NOT that we want to dwell on the ins/outs/ifs and maybe’s or focus on the negatives.
I am not a psychologist and have no psychological training but I think it is widely recognised that as human beings we like answers, we strive to nurture, to learn and to problem solve. We also expect to have a degree of control over our lives and willingly accept the credo that knowledge is power.
We are drawn to belong, to be amongst others and most especially to form bonds and connections with people who are most like ourselves. For want of a better description, we like to identify like with like, fit in a nice, neat round hole (all the whilst railing that there really is no such thing as normal!)
When it comes to the most helpless and vulnerable of our species, our children, we expect them to outlive us and do better than us. We have dreams about what their lives will be like, what we hope they will achieve. But what do we do with these weights of expectation when we don’t know what the next day might hold, never mind the next year? (we won’t even allow a whisper in sotto voce “will they still be here?”)
How do we visualise them achieving independence and a good standard of life when those things are far from guaranteed and as a society our health and social care system is horrifically underfunded?The latter is definitely a blog post for another day.
Inherently as caregivers, we have a desire and are (generally) pre-programmed, conditioned if you will to protect, to cherish and make life better, more comfortable for those we love; to give them greater experiences than we ourselves have had in life.
This extends not just in terms of environment, tangible possessions and financial security blankets but to promoting health, well-being and longevity. I guess a more long winded way of saying #livingtheirbestlives if you want an ultra modern twist on it.
I do not in any way claim that I speak for all but in my broader experience as the parent of multiple children with complex needs, It has been far easier to seek information and guidance of professionals in managing day to day needs. It has far been easier to obtain help, support and signposting to recognised and well documented medical/neurodiverse forums or networks.
When you have a child without a diagnosis, where do you go for help? Who do you ask? What do you even ask? There isn’t a ‘normal’ for an undiagnosed child because at the risk of sounding a bit like Donald Rumsfeld, we don’t know what we don’t know; there is nothing to benchmark against.
Enter SWAN UK. Today, 30th April 2021, is Undiagnosed Children’s Day. This is something I am passionate about every year; every day really. And this year is even more special.
Why? Because it’s our 10th Birthday! A decade that has seen SWAN UK grow from strength to strength in spite of trials and tribulations, not the least of all a global pandemic.
So who or what is SWAN UK? Quite simply, they are ruddy marvellous! I have found my tribe or should that be my flock?
SWAN is not a diagnosis; it stands for Syndrome Without a Name. SWAN UK is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK. It is run by the charity Genetic Alliance UK.
Each year approximately 6,000 children are born in the UK with a syndrome without a name- a genetic condition so rare it is unlikely to be diagnosed. Without a diagnosis life can be very isolating for families, often they feel as if they don’t fit in and it can be very difficult to answer questions about their child. You can learn more here: https://www.undiagnosed.org.uk/about-us/
In the 10 years that SWAN UK has been established, the group has grown in strength and numbers. I wasn’t one of the very earliest members – I think I have been a member for 8 years or so – but in these years, I have made strong friendships and bonds with a huge, welcoming community.
There have been people to call on (virtually) at any time of the day or night. There have been balloon gifts when G Man and Minx have been in hospital, new friendships made, real life home visits from friends, (remember that? Back in the day when we could mix with people without masks and inside, without freezing our nethers off? Crazy huh?!)and those who are now classified as old friends but only by virtue of the fact that we go back a long way!
There have been days out, fund-raising events, information days and educational workshops.
I became a SWAN UK parent representative for North Yorkshire some 6 years or so ago and although these last 18 months have by necessity been more than a little quiet on that front, we hope in the future to focus on raising awareness amongst professionals particularly so we can support more families and carers of young people without a diagnosis.
To do this though, it is vital that we spread the word far and wide and this of course costs money. SWAN UK children are some of the most isolated and medically vulnerable in the UK. They need our support now more than ever but like all charities, we are really worried about the impact of Covid-19 on our ability to support them. We have had to cancel all our planned activities and while we are working on new ideas to support people who want to fundraise for us we are simply asking people to share our Facebook appeal or the donation link on our website. https://www.undiagnosed.org.uk/donate Thank You!