Diagnosis Debate

My Mum has been in hospital for over four weeks now; she has been really unwell and they have been treating the symptoms of an unknown condition for a month now. But this week we finally got a name for her disease, a diagnosis. They performed another biopsy yesterday to identify what strain of the disease she has, so that they can pin down what treatment will be best for her, so finally we feel as though we are on the right tracks, that after so long in the dark, she can be helped to get better.

I am sure that I have mentioned before that Joshua was diagnosed with ‘devastating brain damage’ at just four days old, so we have never had to wait for his diagnosis – it has almost been there from the start of his life. So it has been in the background of everything that he has achieved or failed to achieve and once that news is delivered in the blunt way that it was, it can never be forgotten. I am a master of denial, and so as he achieved his milestones of walking and talking, I could almost convince myself that he had defied the odds and that his diagnosis was in error in his pre-school days.

This however is not the case for many of Joshua’s peers at school, several of whom failed to thrive or develop as they should, and then investigations got underway to try to find out the reasons why. Often parents have a battle to convince medical professionals that there is a problem. This must be frustrating, but I also envy them their innocent. ignorant baby days when they thought that they had a perfect, normal baby, as we were deprived of this. They were able to day dream about what their new baby might achieve in life – what job he or she might grow up to have and how they might find a partner and have a family of their own. We have been deprived of a long term view of Joshua’s future : I can recall being shocked in the Special Care Unit as we were reeling from the diagnosis, when my husband quietly said ” He will never be able to drive”. I looked at the skinny baby in an incubator, surrounded in tubes,  and could not envisage him ever leaving SCBU, let alone wanting to drive a car when he was 17. But from the moment that you find out that you are pregnant, your mind begins to speculate and envisage a future for your baby; a life like the one you had perhaps, where he succeeds at school, goes to university,  gets a job, marries his childhood sweetheart and has a baby.

We are where we are and in many ways, Joshua has defied his diagnosis by achieving so much more than was expected of him, and I could not be prouder of him on a daily basis. On balance, a diagnosis represents valuable information as it explains the context of what can be seen but it should not define anyone, as first and foremost, Joshua is who he is, he is  not his diagnosis. I know that parents of children with Downs Syndrome or Autism, often feel that their children are defined by their condition;  but it should be just one piece of information about them, like an eye colour and gender, not the only thing known about them. A diagnosis should be a positive step forward, not a negative label; it should open doors to more support and treatment and we are certainly hoping that will be the case for Mum, as well as Joshua.

Hope springs eternal

Joshua was diagnosed with severe brain-damage when he was just four days old and so we have always known his diagnosis. What we did not know, neither did the Doctors, was how his ‘devastating brain damage’ would impact upon him. This news was delivered to me on my own, as the Doctor was about to deal with an emergency, so she had no time to wait for my husband to be there too, even though he was already en route. Now I reflect on that, whether we heard that catastrophic news on day 4 or 5 of his life did not really matter, what mattered was how the news was delivered and that we were given the right support to receive the blow. As it was, I did not really take the diagnosis in properly, I was in shock. A lovely young nurse called Katie – I will never forget her and will always be grateful for her care of both myself and baby Joshua – called my husband and told him to  come into Special Care as soon as he could, as I needed him.

When he arrived, with my parents, I could not really tell him what I had been told as it was all blurred, and again , Katie stepped in and arranged for another Doctor to read his notes and deliver the diagnosis again. This time we were together and this time we had time to ask questions, although we did not like the answers we were given. The second Doctor had all the time in the world for us and confirmed that a large proportion of Joshua’s brain – 70% on left hand side and 30% on right hand side – was damaged. My husband was more practical and rational and he asked what exactly damaged meant and could  it improve? The blunt answer came back ‘no, its dead’. We asked what the impact of such brain damage, caused by a stroke, might be and were told that it was uncertain but that he might not walk, talk, see or hear. He advised that we take Joshua home and treat him like a ‘normal baby’ when the time was right, in another week’s time.

Now I can remember that day as if it was yesterday and I will never forget the room we were in or the feelings that flooded my brain. We both stayed up all night, talking, crying and gazing at our very poorly baby in his incubator. I have two things to suggest about how that experience could have been improved for us at that time, even though nothing would take away the pain of the diagnosis:

  1. On the fifth day of Joshua’s life – or at least in the first 11 days before we left Special Care-  a social worker should have appeared and introduced themselves to us. They could have told us a little about the world of disability that we were about to enter. They could have left us with some reading material about benefits and where to access support, that we could have read when we were ready. That would have helped us to feel less alone and that this was a journey that other families had been on and had survived. I am not saying that we would have taken any of it in at that time, but then at least we would know where to turn when we were ready. Instead I had to self-refer for a social worker many years later, when Joshua was 8 or 9 years old!
  2. I would have found it helpful to have met someone like myself now. There, of course, are no guarantees but if as new, frightened parents we could have been visited by someone like me now, with a 17 year old son with the same diagnosis , it might have given us hope. The doctors do not deal in hope, they have to deal in facts, and probably the bleakest outcome too, so that they cannot be accused of giving false hope. But if I had met smiling, cheeky Joshua – yes wearing splints, attending a special school and wearing an epilepsy helmet – then I might have been able to visualise our future better. I could have seen that Joshua had not been given a death sentence but that quality of life could be achieved – not the life that we had planned for him, but Joshua does everything in his own unique way.

In a way, this is what I hope to achieve through this blog. I cannot visit new parents struggling in hospital, but I would like to think that reading about the fun that Joshua has, in amongst the struggles that he faces on a regular basis as it is a warts and all account, might give someone some hope, someone who needs it right now. As a new mum of a 4 day old brain-damaged baby, I could not begin to imagine that Joshua could laugh, show affection, would have a wicked sense of humour, would have a love of music and would make his presence and wants felt as well as he does. To read about Joshua’s antics now, might just have been the tonic that I needed back in March 2001.