Being in a hospital waiting room is like being stuck at an airport waiting for a delayed plane, although without the promise of a holiday at the end of it. Dominic and I usually sit and while away the time staring at a small screen, me on Facebook him on the DSi. We're generally happy enough, occasionally talking and occasionally checking out the other families who spend the hours biting their bottom lips, fishing desperately in the bottom of deep handbags for rice cakes or other such things to try and persuade their children to agree to wait patiently as everything runs an hour later than the hour late you predicted it would. You can watch the stress levels rise as fast as the temperature does and the quiet frustration on the faces of the parents as they try and control their over-tired and under-stimulated children armed only with their 'in public' cross voices, when all they want to do is scream and cry in frustration right along with them.
We don't normally have anyone else with us, Dominic and I. We are so used to hospital waiting rooms that Dominic actually looks forward to our trips to Great Ormond Street hospital, seeing them as quality DSi and mummy time moments. But tomorrow, tomorrow is going to be a little different. But before I talk about it, I first want to share a short, very well known essay with you that will hopefully help me explain the significance of what I'm then going to share. It was written by a mother whose child was diagnosed with Downs Syndrome and its beauty is in the simplicity of its message.
When you’re going to have a baby, it’s like planning a fabulous vacation trip to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum, the Sistine Chapel, Gondolas. You may learn some handy phrases in Italian. It’s all very exciting. After several months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland!” “Holland?” you say. “What do you mean, Holland? I signed up for Italy. I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.” But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay. The important thing is that they haven’t taken you to a horrible, disgusting, filthy place full of pestilence, famine, and disease. It’s just a different place. So, you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It’s just a different place. It’s slower paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around. You begin to notice that Holland has windmills. Holland has tulips. And Holland even has Rembrandts. But everyone you know is busy coming and going from Italy, and they’re all bragging about what a wonderful time they had there. And for the rest of your life you will say, “Yes, that’s where I was supposed to go. That’s what I had planned.” And the pain of that experience will never, ever, ever, go away. The loss of that dream is a very significant loss. But if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.
Emily Perl Kingsley
There is something very important missing from the essay though that no one seems to mention as it gets passed around the special needs community. It forgets to mention the poor bastards whose plane is delayed. Rather than enjoying the tulips they are instead stuck in a room where everyone is feeling let down and fractious and that vaguely smells of other people's farts. It's arguably very hard to be able to appreciate Holland when you haven't even managed to get through the security gate yet as no one can find your ticket. And what, you might ask is the reason for me flogging this metaphor to death? Because this afternoon myself, Dominic, Lilia and Elliot will all be stuck in a waiting room, both literally and metaphorically. And I'm quietly crapping myself.
We have an appointment (and by we I mean that all the children are being seen today), and what I hear in that appointment room could be something devastating. This appointment is the culmination of many smaller appointments that have been going on behind the scenes that I have, admittedly, kept pretty quiet about. Not for any tangible reason that I can think of other than utter cowardice.
So what is it I'm so afraid of? I'm afraid that I'll have to face up to some realities that I don't want to. I'm afraid that people might judge me and the children, and I'm afraid that, in being honest, I might just alienate good people that I have become friends with. So you can probably understand my hesitancy. I guess I'm also a little afraid that I'll write all of this, and then nothing remarkable will happen in the appointment today and I'll have to slope back looking like a bit of a melodramatic wally. But all these risks acknowledged, I also want to be honest about how appointments like this can affect me, as I know that I will feel different after it is over and done with, we have, after all, been playing guess the diagnosis with Dominic for years now. Although now, the stakes have been raised, you see, what I have
been in denial about / failed to/ refused to/ not wanted to not been able to tell you is that now we are playing the same guessing game with all the children. It turns out that all along there has been a punch line that none of us were expecting. Are you ready for it? The children all have the same, unknown, condition. It leaves me with important, but impossible questions to answer such as something as simple as 'what does it mean for their future?' That, you see, is the difficulty with having no diagnosis, it means that we genuinely don't know. It could mean something devastating, or it could mean very little, and no one even really knows where to begin to find out. Our metaphorical plane ticket doesn't exist- yet.
It all started with the realisation that Lilia could dislocate her knee at will (yeah, it is as stomach lurching as it sounds) just like her little brother. That set off a chain of events that ended up with both Lilia and Elliot being fully investigated by Dominic's neuromuscular team. Much to our surprise (both mine and the consultant's) both of them had very hypermobile fingers and joints and both of them had core weakness that was very similar in pattern, if not severity, to Dominic. This then prompted more testing in the form of an EMG which we did more out of a dotting our i's and crossing our t's than because we expected to find something. And find something the doctor wielding the machine did, much to everyone's surprise. It does raise an interesting question about other siblings of complex children who appear non symptomatic though, I wonder how many there are out there whose underlying symptoms are too mild to be tested. The doctor doing the test even said that this is unusual for him as he doesn't routinely test siblings, certainly not ones as able as Elliot and Lilia, and had Lilia not presented with the knee issues, they never would have been tested and we never would have known. And this knowledge is what has got me happily sticking my fingers in my ears and pretending none of it is happening thank you very much. I told myself that as I was never really concerned before all the testing started, I wasn't going to give myself any extra worry just because of a test result now. That's what I told myself, and luckily, I can be very convincing.
Dominic, in the meantime, had flagged the interest of the congenital myasthenia syndrome (CMS) team from the John Radcliffe hospital in Oxford. He had undergone a test called a single fibre EMG that had shown a problem some time before and this test had been repeated while he was an inpatient for so long. This, apart from his obvious weakness, had been our only conclusively abnormal result despite numerous blood tests, x-rays, MRI, EMGs, muscle biopsies and spinal fluid testing. We finally had a clue, a piece of the jigsaw puzzle, a corner of a plane ticket. Basically what the test had shown is that when a single nerve had been stimulated around Dominic's eye, the message wasn't getting to his muscle in an expected way, it was getting delayed in the area called the neuromuscular junction (which is basically a chemical soup that carries messages from the nerve to the muscle to tell it what to do). It seemed that we might finally have a place to focus our needle in a haystack search for answers. There are advantages and disadvantages to this being a relatively knew area of understanding for doctors. The advantages are that there are lots of doctors who are very enthusiastic about discovering more about it, the disadvantages are that there are lots of things that they still don't know and so there are a large proportion of children who are told that they have a type of congenital myasthenia that hasn't been discovered yet so are still actually undiagnosed.
In the last 5 years or so I have read about many, many different types of muscle and nerve disorders. None of them make for pleasant reading. However, a few offer more hope for long term prognosis, and most of those fall into the CMS category. The interesting thing about CMS is that, for some people, drugs have an amazing effect, literally making wheelchair bound individuals leap out of their chair and run (if you're interested in knowing more about this then check out the research going on by the Oxford team here). All in all, if you were going to pick a neuromuscular disorder, you could do a lot worse than picking CMS, so I have been routing for this as a diagnosis ever since.
When the Oxford team first met Dominic, they weren't convinced he belonged in their camp though. After wading through the sticky web of all of Dominic's issues and trying to take on board what could have been congenital (something he was born with) and what could have been as a complication of having been so unwell when he was younger and the team came up with the rather deflating answer of 'we don't know'. They were erring on the side of probably not CMS as his eyelids did not droop (which is a classic sign in some, but not all known forms of CMS) and because his weakness was so profound. They thought a controlled drug test was probably unsafe to do without checking a few more gene faults first (the same drugs that can have amazing effects for some children can leave other children with CMS on a ventilator), but all in all they thought probably not. And then I mentioned Lilia, and Lilia's knees, and they looked interested again and asked to see her with Dominic. After a few months had gone by I went back with Lilia, by then knowing that she had the same EMG results as Dominic (Elliot was just waiting for his referral at this point as the NHS demands that a paper trail from GP through local paediatrician through to specialist neurologist is adhered to, even if the neurologist is the one asking to see him). Lilia was amazingly compliant and did everything they asked of her. 'Transverse smile' and 'core weakness' were a few of the things I heard being exchanged in the fast paced, low volume conversation that then followed between the doctors that were present. They concluded, having met a sibling without the history of complications muddying the water that they had thought CMS to be a possibility again as her pattern of weakness was, in fact, representative of CMS, and perhaps even her lack of sporting prowess could be blamed on it too. We went back again after Elliot had been tested, who was also hypermobile, had a strange gait caused by his hypermobility (that had only become apparent in the last few years) and had the same pattern of weakness and EMG results that the other two did. By this point we were no longer surprised by the findings. To have three in the same family affected when the parents don't appear to be is very unusual, so I got up on the examining bed, much to the delight of the children, as they did the same strength test on me, which I passed (and yes I did attempt a She-Ra like leap from the examining bed when I was told that, it wasn't very pretty). And so the mystery deepened for the doctors. They couldn't tell if it was CMS or a type of myopathy. As Dominic's muscle biopsies had never shown anything, I said I didn't want any done on Elliot and Lilia, so they decided to do muscle MRIs on them to see if their muscle fibres were all evenly sized (which would be good news) or not (which would be bad news). That happened a few months ago, and I didn't even chase the results. I needed to not think about it, or get upset at not being able to get the answers because I needed to be sane and happy and get on with our lives, and if anything will drive you insane, it's knowing that someone might have an answer, but you can't find out what it is. But also for the very simple reason that I am a coward, because no one will be able to tell me what this means for all three of my children, because we still won't know what is wrong, we'll just be going on a best guess at which area to look more closely at. Because this will not bring us a diagnosis, it might in fact get us left in an 'unknown myopathy' pile that gathers dust, and worse that gets used an excuse to not try to treat various things that could come up.
With no diagnosis, there is no prognosis. Of course some might say that this is a good thing and that you should live every day as though it's your last anyway, which is of course a nice sentiment, but impossibly exhausting in the long term (if it is indeed long term). But then imagine if you decided to be positive about the future and just get on with life as normal and then the worst happened, you'd be left with the guilt of not having tried to cram a lifetimes worth of experiences into a shorter time. If anyone doubts how painful the not knowing is, think about how it is when someone you love is very ill, and you don't know what is wrong and you don't know what to do to help. You feel utterly helpless, utterly out of control and utterly terrified. You also feel very, very alone, the responsibility is on you to make the right decisions and you know that the consequences might be grave if you don't. Now most people feel like that for a few days in their life time if they are unlucky enough to be in the situation when someone they love is unwell. I've been doing it for 5 years, some other people for much longer. That feeling doesn't go away, the rising panic is there, sitting like an ugly toad waiting for the opportunity to send your world spinning in fear at the scary possibilities on the unknown.
Of course as Dominic has got older and more stable, I have a good handle on my desperation for answers, it rarely causes me to feel the rising panic, unless Dominic is unwell or we have results that are potentially important that we are waiting on. But my acknowledgment and acceptance that this unknown could be long term so I have to be able to shut it away and just live my life it doesn't make me feel any less alone, that's the one thing that is a constant. There are no families to connect with with children just like Dominic, no charities helping us out and giving advice on what to expect Dominic's body to do next, what risks to monitor in order to catch potentially fatal problems early on and what to plan for the future. I'm doing this blind and unprepared, and I hate being unprepared when I'm going into a battle that I'm intending on winning.
And here is where I have to make a confession that I am not proud of. When I was supporting my friends on 21st March promoting Downs Syndrome Day, and other friends who were raising awareness of World Autism Awareness day on 2nd April I did it happily, but I cannot say honestly that I wasn't jealous. I saw all these people, networked and joined together by a common desire, a common understanding. There was support and unity and information and awareness and it made me feel, well, alone. What I want is to belong somewhere, to feel like I can find other families like us, other children like my three. I have heard so many stories that people have told of those awful hours, days, months of agonising over what was wrong with their child, and the relief, however scary, of finally knowing what was wrong with their child. Because if you know what's wrong, you know what you're dealing with. Things always look scarier in the dark after all. I feel terrible for being jealous of good friends and I hope they don't think of me as melodramatic or unkind, but there are times, when the tightly locked box has to be opened to deal with the fact that we still don't know what the future holds, and this afternoon, sat in that waiting room with all three of my children will be one such time.
There are however other families out there with many of the same worries, even if their children aren't the same as Dominic and finally there is a slowly swelling community of families who are all stuck in the waiting room with me. Finally, albeit slowly, a dawning realisation that families with undiagnosed children need support too is leaking into the medical community. Something as simple as getting families facing the same uncertainty together so they have other people to talk to helps families feel less isolated, despite all the children being very different. And it is for this reason that the S.W.A.N. (syndromes without a name) project has been set up to try and support the families that fall between the cracks. These families, like my own, often struggle to even access basic services, all because they can't fill in one tiny box that appears on every document, the one marked 'diagnosis'.
I am not saying any of this because I can't appreciate how lucky I am, I wouldn't change any part of my life. I'm not saying it to gain any sympathy, there are plenty of parents in worse situations who would give anything to swap with mine, and I acknowledge that every day I read about the heartbreak that friends of mine are struggling with. I'm not saying it because I want a label for my child, I don't, I just want to know what's wrong. A diagnosis doesn't change who my children are, they'll still be silly, and funny and cranky and farty and floppy, but it will be like taking a blindfold off the doctors who are treating them. Given a choice, would you want doctors who had to make a best guess at how to treat your child, or ones that could draw on information to take the best course of action? It goes without saying really doesn't it.
I am saying this because I am simply trying to be honest, to let you know how I feel just before appointments like this, and to try and make people more aware of just some of the difficulties that so many families are going through while they wait for medicine to advance enough to diagnose their child and arm them with the information they need to go into their future prepared. So my friends, if you're in Holland, spare a thought for all of us who are still stuck in the airport, and if on your travels you happen to bump into someone who is stuck waiting by themselves, please consider sending them my way so I can say 'Hi' and remind them that there are other people out there who know how they feel… and perhaps even help them feel like they might belong somewhere after all.
Please pass this post on, many families still don't realise that there is help out there.
Some helpful links:
Genetic Alliance UK
Rare disease UK
Unique- Rare Chromosome Support Group
Every Disabled Child Matters
Disabled Living Foundation
European Organisation for Rare Disorders
SIBS- For brothers and sisters of disabled children and adults