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’.
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.