Tag Archives: diagnosis

Time to talk…

This weekend was bookended by two conversations that just a  couple of years ago I never imagined I would ever have to have. I was nervous as anything for both of them and I am so glad they are behind me, even though their repercussions are going to preoccupy us for a long time to come.

On Friday I took Boo to see his consultant to get his test results. Yes, these are the tests we had in June, the ones where the results were sent to the hospital in July and I found out by accident 6 weeks later. Results that I had read out to me on the phone by another consultant after breaking down uncontrollably on the phone to Boo’s consultant’s secretary, begging her to get someone to phone me to pass on the information they were sitting on, pointing out that it was immoral to withhold information about my child (information that could tell me if he’s got a life-threatening illness).

Four months after the tests, three since the results were sent to his consultant, I sat down and was talked through the full results.

I was dreading it. I wasn’t dreading being told my child has cerebral palsy. I know that. I’ve known that for much longer than I have publicly admitted. But I was dreading the scrupulous detail the report would contain and which will make no difference to Boo’s treatment. I couldn’t bear the dwelling on things that couldn’t be changed. I’ve done too  much of that. And I was feeling awkward about having to sit in a room with a consultant after making a formal complaint about the results debacle.

In the end it was fine. I was offered a box of tissues, but didn’t need them. I wasn’t being brave. It’s just I’ve cried those tears. There are plenty left. Just not for a diagnosis. I accepted that a long time ago. The consultant agreed that the small genetic imbalance they found is a red herring and that there is no point in The Grumposaur or me getting tested at this point, although Sissyboo might want to in the future if she wants kids. And the urine test that wasn’t done quickly enough (and which I hadn’t yet taken the 3-hour round drive to get done again) wasn’t worth doing, he said. ‘If Boo had what they are testing for there he’d already be dead’, I was told somewhat bluntly. Always a silver lining, right?

The MRI told us nothing we didn’t already know. Boo was born early but healthy. He was unlucky (I wish people would stop saying that to us). He got meningitis post-delivery and had a massive brain bleed. It isn’t my fault. It wasn’t any one’s fault. The words ‘severe brain damage’ aren’t my favourite three little words, but aren’t nearly as harrowing as the brain scan images I saw when he was a couple of months old. The images speak much more profoundly than any words on a page. And when I turned back to Boo after reading those words and he smiled at me and said ‘Hiya’, I was reminded of something else that I already knew. ‘Severe brain damage’ means a lot of things, but it tells you very little about our beautiful Boo and his winning personality.

The rest of the conversation went well. Lots of talk about his educational needs and so forth and I left feeling oddly relieved, positive and set for the road ahead. Not so The Grumposaur but that’s not a story for the blog.

It also gave us the resolve to have another conversation. With Sissyboo. Now was the time to tell her, we thought. Tell her that her brother not being able to sit or walk like her friends’ younger siblings is not just (or even at all, as it turns out) about the fact he arrived 11 weeks early. It has a name: cerebral palsy.

I realise some people reading this might not think we did the right thing in telling her at this tender age. She’s not quite 6. It’s a lot to put to a young child. I know.

I share those reservations but as people have said to me at least 100 times since Boo was born, there’s no manual for situations like this. There are books – wonderful books – introducing children to various disabilities or illnesses that might affect their family members. But I haven’t seen one for cerebral palsy. Maybe I’ll write one, one day.

But if people say ‘Why tell her?’ my response is ‘Why not?’ You see so many aspects of Sissyboo’s are already saturated by CP. When her I turn on the telly or sets up a craft to occupy her so I can squeeze in some exercises for Boo. When I have to take her to the school breakfast club so I can take Boo to an appointment. The books with cerebral palsy I borrowed from the library and which I have hidden, because I know she if she finds them, she will sound out the words in her best year one phonics and want to know what they mean. When he goes to hug her (he does this a lot) and he accidentally bashes her in the face because his arms don’t go where he wants them to. When her friend’s 9 month sister comes round and despite being half her brother’s age can cruise on furniture and crawl.

She is not daft. She knows her brother is not like everyone else’s. And she needs answers too.

Of course the cerebral palsy label doesn’t give them. Not to the important questions. To her. To us.

‘Will he go to my school?’ ‘Will he need a wheelchair?’

But it does provide a way of answering the one question we don’t ask but everyone else who doesn’t already know Boo does: ‘Why is he different?’  Now she can answer: ‘Cerebral palsy’. It’s a conversation stopper. And she needs the label to be able to achieve that.

Between ourselves, however, ‘cerebral palsy’ is a conversation starter, a means of opening up the host of questions I know she has about her brother. It’s a licence to ask those questions. She needs that, too.

So when we sat down to lunch yesterday, we told her. The Grumposaur started by asking her if she remembered that Boo had to go to London to have some tests done a few months ago. He explained that we’d had the results and that all the really nasty things that they might have found were found not to be there. Boo was healthy. But Boo had problems.

‘You remember when he was really ill in the hospital just after he was born? Well that illness has left Boo with some problems called cerebral palsy.’

‘What’s that?’ she said.

‘Well, you know that Boo struggles to control his muscles and move in particular ways, that’s cerebral palsy’, I said. ‘It makes things we do easily, like sitting or feeding ourselves or moving about very hard. But it doesn’t mean he won’t be able to learn these things. He might not learn them all. We just don’t know. But we can help him to do as many of those as possible, by just doing all the things we are doing – loving him, playing with him, reading to him, doing his physio.’

I can’t give you the rest of the conversation in detail. It’s too hard to recount. I can’t remember it all. But she was unfazed. She asked the questions we have asked people: ‘Will he walk?’ ‘Will it stop him doing things?’ And she asked those same questions partly because we have been partly infantilised by all of this, turned into helpless children, asking the doctors like a vulnerable infant asks their parents to assure them everything will be alright.

But as she asked these same child-like questions, I was struck by how very grown-up Sissyboo was. You see before we had time to respond, she already had answers. ‘Will he walk? Oh, [she is smiling now] he might need a wheelchair mightn’t he? Daddy, did you see the videos of wheelchair basketball on Youtube?’ ‘Will it stop him doing thing? Actually, Mummy, it won’t because we will just make things happen for him. And he’s very determined, my brother.’ (Well, he has a great sister to teach him these things, I thought…)

We talked about lots of other things. And she hugged her brother and messed about with him by pulling faces and making him giggle uncontrollably as we spoke.  Then we asked her if she had any questions. She said she didn’t, but she did have a story to tell.

The story was a fabrication. Sissyboo doesn’t lie very much by 5-year-old standards, but she does make up imaginary scenarios involving fictional people from time to time. It’s clearly a way of her asking questions she doesn’t know how to ask, or solving problems she can’t work out in other ways. I suppose it’s the 5-year-old equivalent of the teenager who tells her mum she has a friend with this problem, rather than admit the problem is her own.

She told us about a fictional couple where the Dad has CP (in the course of the conversation we’d told her that the husband of someone she knows – a dad, who can drive, has kids and is therefore the epitome of normal in her mind has CP) and the Mum then divorces him because she is worried that any kids they have might catch CP. Now, there’s a whole bunch of stuff here I’m not minded to analyse for you, but she was clearly worried that CP might be passed on genetically, or more pressingly, that it was contagious. It wasn’t that she thought it was catching, because, it turns out, she knew it wasn’t; but she was worried that others might think it was, and she wanted strategies for dealing with their ignorance.

She was also clearly worried that people would ostracise Boo as he grows up. They will, I thought, but we have to teach him not to let it bother him. That’s a conversation for another day. Because this is the first of many, of course.

I know it will take time for the words, and their slippery meanings to percolate her consciousness as they have mine. And I know that some days she will be fine about it and others she will feel confused, sad and as if the world is a hostile place that has to endured rather than lived in. I know, because she is my daughter.

But I am so proud of Sissyboo. I am so proud that while we talked through stuff no child should have to hear about a sibling, she looked at her brother and in the face of the words, she saw beyond them them to a little boy she loves more than anything else in the world. A little boy with a happy life ahead of him if she has anything to do with it.

I am proud because her question about the fictional family shows that her first thought was for Boo and his feelings not for her own (important though they are – and I don’t forget about them). In her mind, this is happening to her brother. There was no ego here. No prejudice. Just a beautiful young person’s love for her sibling.

I have two wonderful and beautiful kids. So please, consultants and medical professionals, don’t call me unlucky. That’s one label that just doesn’t stick.

Good News Friday #25 and a Big Thank You

How on earth did it get to be Friday? More to the point, how did this get to be Good News Friday #25? This means, of course, that I have been blogging for nearly six months. When I wrote my first post and first Good News Friday, I didn’t know if they would be the last. I didn’t know if I could keep up the momentum of blogging (it’s been a struggle sometimes, but I’ve just about made it), or whether anyone at all would ever read this except me. That they do read this small, nichey blog, amazes and delights me daily.

I’ll reflect a bit more on my six months of blogging next week (Wednesday is the big day), for now, it’s the time of the week where I like to accentuate the positive and think about the good things that have happened this week, in a bid to get a bit of perspective on things (seeing past diagnoses, genetic tests, ongoing battles, problems with Sissyboo at school, and no washing machine for the past 10 days) and, as importantly, to gently encourage you to share any of your good news with me in the comments box or on Twitter (@premmeditations) or on the blog’s Facebook page.

So my good news:

Well, there’s Boo’s standing frame and boots, which I blogged about earlier in the week, so I won’t say too much about them again here, except to say that they are still causing endless hilarity and excitement here with Boo and Sissyboo. Long may that continue.

Then there’s conductive education. This week The Grumposaur came and he has committed to trying to do the sessions with him alternate weeks to help me with work. This is huge for all of us. The control freak, I mean adoring Mum in me (actually I am adoring Mum and a control freak, as you might have guessed if you regularly read this blog) would like to do all the sessions myself, but I am also struggling with work and I am desperate for The Grumposaur to be more involved in Boo’s therapies and treatments. I haven’t kept an exact tally of Boo’s appointments since leaving hospital last May, but it must greatly exceed 150 appointments, of which The Grumposaur has been at 3 (1 by accident as he happened to be in the hospital when the consultant walked in). He had a great time, and so did Boo. They adore each other. Being so involved in something so positive (not an appointment where we’re told, again, what Boo can’t do, but where we work with him to work on what he can) is energising and wonderful. I hope they both get lots out of it. It will be hard for me to let go of something (if only on an alternate week basis) but I know I need to. Some weeks I feel like I am going to snap in two.

But the big news this week is that The Grumposaur and I are going away for a night at a spa without the kids. We’ll be gone less than 24 hours and the kids will be with my Mum and sister. You can probably count the number of nights out we have had since the kids were born on one hand. We haven’t been away for a night together on own own since July 2007. It will be lovely. We deserve it. The kids will be fine. But I am still very nervous. Nervous Boo will keep my sister awake all night. That Sissyboo, who is having quite a wobble at the moment (Boo and school-related) will be difficult. If I’m honest, I worry we won’t have anything to talk about except the kids. But I hope it will be like it is on the odd occasion I go away with work: difficult until the moment I get there when it’s lovely and peaceful and I can worry (mostly) about me and only me. I’ll let you know how it goes next week.

The biggest news of all, I think, though, is that we have got through this week. A week of diagnoses and the dilemmas they have presented us with. We have decided not to get ourselves tested to see if we have the same genetic imbalance as Boo. We are content with the cerebral palsy diagnosis. We are moving on. And that feels huge.

I cannot thank all of you enough for the lovely comments you have written and tweets you have sent in response to my Diagnosis Day post. Many made me smile. Others made me cry. Mostly they made me feel welcomed, understood and extremely lucky to be part of the amazing community of parents in the blogging/tweeting world.

Thank you all. I haven’t been able to find the time to respond to all of your comments yet, but I will. They mean a great deal to me.

I hope you all have great weekends, and do share your good news. We love to hear from you.

Diagnoses and Other Dilemmas

There is a day I have been anticipating and dreading in pretty much equal measure for months now. It’s known to parents like us as D-day: the day your child’s diagnosis lands on your (in this case inappropriately named) welcome mat or is delivered by a consultant in a hospital.

Boo’s diagnostic tests (MRI, lumbar puncture, full bloods for genetic tests and urine for metabolic disorders) were performed three months ago. But in many ways, we have been waiting for D-Day for 18 months. From the fourth day of Boo’s life. The day after he contracted meningitis, the day we were told he had sustained a significant bilateral brain bleed.

When a CT scan at 8 weeks (three before he was supposed to have been born) confirmed that Boo had PVL (softening of white matter in the brain around the ventricles that had dilated following the bleed) and that cystic changes had ensued, we knew the odds were that this day would come. And then we noticed Boo’s increased but variable (i.e. it comes and goes), assymmetric tone (worse in his arms than his legs, worse on his right side than his left). We started racing towards it at break-neck speed.

But then again, he had great eye contact, he smiled and laughed. He was gorgeous and healthy. Maybe it would all be OK. Maybe cerebral palsy wasn’t our unavoidable destination. And then at 6.5 months corrected age Boo developed infantile spasms, a catastrophic form of epilepsy, and if there was any hope that he was going to be one of the babies who gets away with prematurity and brain bleeds it was cruelly snatched from us.

From then on I have to confess that I wanted the diagnosis to be confirmed. I felt we needed it. Not having a diagnosis felt like a punishment. Because every time people asked how Boo was or why he wasn’t sitting I had to say, ‘Well he has brain damage and he might have cerebral palsy’. ‘I’m sure not’, people would say, ‘Don’t believe the worst till you have to’, they would mutter to my great irritation (as if I were wishing my son to be disabled).

Even more than me, I felt, The Grumposaur needed a diagnosis, to help him accept what had been painfully clear to me for months of therapies and hospitals. Boo wasn’t going to catch up. Boo might hit milestones but nothing would come naturally to him. Call it Holland or what you will, this place we were inhabiting was our new home whether we liked it or not.

I resented the spasms. Not just because they were bloody terrifying and aggressively parasitic. No: I resented them because they prevented us getting a diagnosis. Most people involved in Boo’s care treated him as if he had quadriplegic CP caused by his brain damage. That explained the mixed tone, the developmental delay. But the spasms (though most likely caused by the same brain damage) could theoretically have had other causes – awful and potentially life-threatening genetic or metabolic causes – that can have a similar presentation to CP. So no diagnosis until these other things could be ruled out.

We had those tests in late June, on the first day of Wimbledon. And the wait for the letter to end up on our mat has been excruciating at times. So when nearly three months had passed I called to find out when we might expect the results. It turned out most had been sent to our hospital some six weeks earlier but no one had thought fit to tell us or even put them in the post. I won’t rehearse this sorry saga again here as I blogged about it last week. And more has happened since.

Here’s all you need to know. The MRI essentially confirmed what we knew already. Boo was born 11 weeks early and had a grade 3 bleed on one side of his brain and a grade 2 on the other resulting in PVL and cysts. The lumbar puncture showed no problems. His urine needs to he done again as they didn’t test it quickly enough, but the chances of the particular nasty they’re testing for being applicable to Boo is miniscule. All genetic tests tests for known syndromes came back normal.

But…There’s always an effing ‘but’, isn’t there?

But…they found a small amount of extra genetic material on the long arm of chromosome 22.

What does that mean, I hear you say? ‘What does that mean?’ I asked one of Boo’s consultants. The answer, according to the report which I still haven’t seen, but which has been read to me on the phone, is ‘not known’.

Not known.

There are a number of syndromes connected to this chromosome, but Boo didn’t test positive for any of those (most of which pertain to duplication or deletion of the chromosome not to additional material being present). It is possible that The Grumposaur or I have this same slight genetic imbalance. They have offered us genetic testing to see if that’s the case. More meetings, more waiting. The  pay-off would be that if we are found to have the same imbalance and since we are, to all intents and purposes, healthy at present then it is probably insignificant. A red herring. If we don’t have the same small amount of genetic material on the offending chromosome then we are back at square one, not knowing if it’s significant and no way of treating it if it is.

Thoughts ricocheted round and round my head as the consultant spoke to me. So what do we do, I thought? Do we get tested in order to hope we prove to have the same abnormality and then declare it unimportant? Or do we ignore it, safe in the knowledge that even if it is significant, knowing that wouldn’t make it any difference to Boo’s treatment? Do we go down a potentially long road of testing in the hopes that geneticists’ understanding catches up with their analytical abilities? Would any of Boo’s team of healthcare professionals think badly of us if we don’t get ourselves tested? Is it irresponsible not to do so?

If Boo hadn’t had infantile spasms, we have been told, it is unlikely they would have offered this raft of tests. His presentation and birth and early days history points as clearly as possible to cerebral palsy and for the brain damage causing the seizures, which, mercifully, he has been free from for over 8 months. As I understand it, the known genetic and metabolic disorders that can cause the spasms have now been ruled out.

All these questions, and more, crowded my mind but in the end, and somewhat to my surprise, the one I most wanted the answer to was this: ‘If we don’t get tested, will this prevent you giving him a formal cerebral palsy diagnosis?’

The answer: ‘No. I think when you formally get the results from Dr X in a few weeks [oh yes, we have to wait another month!] I think you will be given the quadriplegic cerebral palsy diagnosis. That is Boo’s presentation. That is what we are treating through therapy.’

I asked for time to think about things. Time to decide whether to go down the genetics route. Time to consult with The Grumposaur. I clearly need this diagnosis more than I thought I did (and let me say now how lucky I know we are that we will get one as so many parents don’t as my many SWAN friends in life and online know only too well). But even so, I maintain The Grumposaur needs this even more than me. He has the casting vote.

But as for me? I’m done. I don’t want to go down that path unless The Grumposaur wants to.

Because I am sick of brick walls, dead-ends and tail-chasing. I am exhausted by waiting and fretting.

Most of all I am fed up to my back teeth with focusing on Boo’s ‘problems’, on what he can’t do (yet). I am done I tell you. DONE!

I want to move on. I want to tell the world that my son has cerebral palsy. That he nearly died and survived only with terrific brain damage. And that he is bloody marvel. That he can do so much. That we are helping him to do more. That he is not his ‘condition’ or whatever euphemism you want to use. He is a little boy. A funny and beautiful little boy who has a life of great, if perhaps not conventional, potential.

It’s time to focus on the good, not the bad. Of course, this isn’t going to be easy, and the anxieties and frustrations aren’t going to end just because I want them to. But I want to move beyond unfeeling clinical terminology and to the richness of the life that stands before us.

I thought I wanted a diagnosis. It seems we have one, and for that, as I said before (knowing how things could be very different) I am glad.

Actually, though, what I now know I really wanted was the opportunity to live beyond diagnosis. An opportunity to live our lives. To move on.

And to my great surprise, I find that I have. Already.

My name is Mrboosmum. My son has quadriplegic cerebral palsy and epilepsy (under control currently with medication). Oh and in case you didn’t know, his strength, determination and wicked sense of humour make him just about the most amazing person you will ever meet.