One of the last things the geneticist wanted to convey over a Zoom call at 10pm on a Wednesday evening was that the odds of my wife and I staying married were miniscule. That, and from now on our lives would likely become unbelievably hard, forever.
That call, in September, was the culmination of a brutally tough year in which our beautiful baby Holly has endured endless hospital appointments and been put through constant therapies as we exhaustively searched for a reason for her significant delays and behaviour.
For almost her entire life of just over a year, Holly has either been screaming uncontrollably or found herself being examined. She has been through it all – brain scans, MRI scans, blood tests, genetic tests, physio, hydrotherapy, osteopathy – you name it, she has been subjected to it.
While behind the initial pain and screaming it was clear she was a calm and giggly sweetheart, Holly missed every milestone going.
The genetic doctor we spoke to through a laptop screen that night eventually had the answer for what was going on. Our baby daughter has been diagnosed with an extremely rare genetic disorder called GRIN2B.
You can try and look it up but with apparently only a couple of hundred cases of it recorded worldwide, there really isn’t a lot out there to read. The NHS has nothing about the condition on its website and every doctor and hospital appointment we now go to we just get blank looks when we mention the diagnosis. Our GP readily admitted to me that she’s never heard of it.
Those blank looks face us everywhere. No one knows how to act, no one knows how to talk to us, no one knows how to help, and no one really seems to be grasping the severity of our situation.
Holly’s condition is so rare it doesn’t even have a name. What the jumble of letters and numbers means is that she has a neurodevelopmental disorder caused by mutations in the GRIN2B gene.
To quote a few sources, the condition is characterised by “mild to profound developmental delay / intellectual disability in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common.
“Some affected individuals never develop speech or the ability to walk on their own. Many people with this condition have weak muscle tone (hypotonia), which can contribute to the problems developing motor skills and lead to difficulty eating.”
The clinical geneticist was extremely honest in his appraisal of her future. Holly may never leave our care, get a job, or be able to look after herself. The road my wife and I thought our family were heading down is no longer the one we face, everything has changed forever.
The questions one asks oneself are endless. What will Holly’s life look like? What will she be able to do? How much care will she need? How happy will she be? Will the world be kind to her? What does this mean for Holly’s older sister? What on earth happens when my wife and I get too old to look after Holly? Your mind goes to all the worst places.
As a doctor friend put it brilliantly the other day, we’re now part of an invisible group no one wants to be part of. There are so clearly two very separate spheres of society. Those that are able-bodied and those that are not. And the former, if we’re all being honest, doesn’t want anything to do with the other. It does not want to look at it because it’s too uncomfortable, too “different”. Those who find themselves in the second sphere, either with disabilities or looking after someone with one, are consumed by it.
Before we had a diagnosis the hopelessness of our situation was so vivid. Now we know exactly what is going on, that hopelessness has been replaced by a mix of enormous sadness and devastation, plus a burning desire to give our incredible Holly absolutely everything we can.
We are acutely aware as well that there are many families still awaiting a diagnosis – the NHS waiting list for genetic testing is over a year – and some that will never receive one and instead be told their child is a SWAN (syndrome without a name). And of course there are those with profound and degenerative conditions. There are many people in much worse situations than us.
We know our daughter has GRIN2B. However, no one can tell us how severely she will be impacted by it. Holly is on her own path and she will reach whatever maximum potential she can. Our dream best-case scenario is that she will be on the “milder” side of things. But even if mild she will still have a disability and will be unlikely to leave home.
My wife has been superhuman in getting Holly all the therapies she is now taking part in weekly. If it weren’t for her, Holly wouldn’t have any of the support she currently has. The people running those therapies have also been incredible and we will be forever indebted to them.
However, we do regularly encounter people who don’t seem willing – or able – to empathise with our situation. None of the medical professionals have ever asked how we are. It’s as if the diagnosis has been delivered and then everyone has gone “and good luck with that, bye”.
We found out yesterday the community paediatrician who will take over as our point person for Holly will see us for the first time in February. Holly will be 18 months old by then. It is horrific to think that there will be some families who will have waited that long before being told something is wrong or what care options could be available and therefore missed the chance for early intervention.
There is a specific type of loneliness that comes with the realisation, one that many parents in our position must experience, that we already know more about Holly’s condition than the medical experts we meet. All they are doing is reading off the first page of Google results when they look up GRIN2B. We are now the experts. I would relish the opportunity to speak to other families who have navigated this helpless situation.
While the grief and exhaustion of Holly’s situation feels achingly real every day, bizarrely at the same time it also feels like a dream. With Holly only a year old her condition is perhaps not yet immediately visible to everyone. That will obviously change.
At the moment one can lure oneself into a false sense of security regarding how tough our future might be. But telling people we know is very hard. Nothing kills a mood like, “Well, she’s got a disability,” in response to a friendly, “And how’s Holly?”
Amid all of this is the fact that my wife, our eldest daughter and I are all the same people we always were; it’s just that Holly’s diagnosis has changed our life’s trajectory. Also, that marriage anecdote? Apparently 87 per cent of parents with a disabled child get divorced. We’re aiming to be part of the 13 per cent.
The wonderful blunt geneticist told us exactly how it will be over that call and I’m actually extremely grateful he did. He made the absolutely spot-on point that Holly, our wonderful, beautiful Holly doesn’t know any different and, in having a loving and caring family, she has the potential to have a good life.
And Holly is developing in so many areas. She is amazing. Her smile is the most incredible thing I’ve ever seen. Her giggle lifts my soul. She can be so playful and so engaged. She and her sister laughing together is the greatest sight imaginable. Holly is incredible and unique. She amazes us every day and we owe it to her to go live an incredible life together, with her and her sister at the centre.
As we try and navigate our way through this new reality, the challenges are enormous but out of the grief and shock will emerge a resilience – to chase and achieve all our dreams with our beautiful girls the focus of everything. There’s no doubt in my mind we will achieve it.
Liz Truss needs to take her own advice, and cease and desist