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 Β 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.

24 thoughts on “Diagnoses and Other Dilemmas

  1. Sam Candour

    I’m glad you finally have the diagnosis you’ve been waiting for, for all your sakes. Hopefully it will help everyone. Boo sounds absolutely awesome and determined, and SissyBoo sounds amazing too. This isn’t by chance, it’s because of you (and the Grumposaur). It’s because of your hard work, your determination, your incredible example to your children. You deserve credit and kind words too.

  2. Sarah lou mum of two

    Absolutely brilliant ! The last paragraph or two, and more so the last few lines sum it up for us perfectly !
    We have no ” official diagnosis” but I no longer care ! … My daughter like Mr boo survived a grade 4 bleed and meningitis, she has hydrocephalus and all the lovely C /P traits, had her own dalliance with seizures. I know that Knowing what your up against would sometimes, make it fairer, but i resided to the view that .. It wouldnt make it go away or make me love her less so why frett !!! She is my very special little fighter and i am proud beyond words of her regardless what lable they choose to give us !! and any way I never fancied holland so i think i will detour around germany for a bit !!
    Much love sent to the “boo’s ” – what ever you decide to do ! Xxx

  3. aint3113

    I could relate to so many of your words. There was a point when I would do anything to get a diagnosis of some sort. Something to hang my hat on as a known and slowly, I’ve come to this place of “it doesn’t matter”. I want treatment plans, not labels. Sometimes one requires the other, but unless that’s the case, I don’t care the label.

    For reasons other than infantile spasms, Owen also went through the full metabolic and otherwise testing. He too had an atypical chromosomal pattern (I don’t remember which numbers). One that they had never seen before, so the hospital actually paid for my husband and I to get tested because the genetics team wanted to figure it out. Come to find out, my husband and Owen are, as of last summer, the only two known people w/ this pattern. I decided to call it their handsome gene. I hope that, if you decide to do additional testing to determine if your husband or you share Boo’s pattern, that it’s a smart or handsome gene for you too. xoxo.

  4. Looking for Blue Sky

    Your son sounds awesome, and you are pretty amazing to get to a place of acceptance so fast. Now and again I still try and find out answers for what is going in with my special girl – it might help to find other families, and then I could get advice on how to improve her life x

  5. Jane

    I think with a diagnosis you also get a strange sense of relief, as if you can draw a line under it and move on. I think it’s the limbo that is hard. When you have a diagnosis you feel like you can draw up the battle lines and start the next part of the journey.

  6. Orli D

    I agree with Jane completely. For me the purpose of the diagnosis is so that you can stand tall and say my son has this and that, so you people can stop guessing or looking at us funny or pointing fingers at the crazy parent. But that’s it. It wasn’t to defined our child, it was to defined the world, if it makes any sense. It was to give us the peace of mind when we have to fight the system once again.
    And as for the genetic road – I agree with you completely. We had a choice to make about that one too, because in our case the diagnosis isn’t complete without it (never mind the details. I am starting to see how I am writing a post and not a comment πŸ™‚ ), but since it changes nothing with regard to treatment (none anyway), or the formal letter or anything else, and since we have no plans for more kids, we just left it. Why go knowingly down a road that will lead us nowhere? Why waste more time on doctors and tests that in the end of the day change nothing? So we decided to leave it and go on with our life and all the things that we can actually help him with.
    I hope you don’t hate me now that I wrote a post in disguise πŸ™‚ but I just wanted to say that I understand, I think you are right, and that you are a wonderful mum πŸ™‚ x

  7. suzanne3childrenandit

    What an incredible post. A heart-breaking situation which could have floored you, you have turned round to a positive. Well done and indeed, spend every moment marvelling at your little creation – he sounds like a miracle and gorgeous to boot πŸ™‚

  8. Cathie B

    Wow – I was fine reading this post until the last sentence and you broke me. What a courageous family you are and Boo sound like a legend in his own right – loving his nickname of Grumpasaurus. #MagicMoments

  9. Steph Curtis

    I understand this feeling totally. At some point you have to get on with living the rest of your lives else you’ll find they’ve disappeared. You can have fun, and I don’t even like the phrase ‘making the best of what you’ve got’, as actually it’s just living your life to the best, which is what everyone should be doing, whatever their situations, whether it’s harder for you than the next person or not. And I know the rollercoaster goes down at times too, and that PMA is not always easy to summon, but I can already hear that you have that right attitude and you have an amazing little boy who you love very much. Lots to enjoy life for x

  10. pinkoddy

    What a great post, it couldn’t have been written at a better time for me. We are hoping to have our (fingers crossed) last stage of assessment next month and you describe how I feel very well. I’m glad you are able to be so positive and just enjoy him.

  11. downssideup

    Beautiful and heartfelt. We all know that no child is just a diagnosis but it is so easy to get wrapped up in that in the early days. Much love. H x

  12. markusj75

    That is such an amazing post and you are such an amazing family. If the doctors had given us the slightest glimmer of hope for our little Richard two years ago we would have taken it, but he had a massive grade 4 bleed on both sides and there was nothing they could do to give him any glimpse of quality of life, he would never have been aware of his surroundings. After hours of talks with the consultants we all came to the conclusion that the best thing for him was to switch of the machines. Every decision we made for richard was with the notion in mind what would be best for him. In the end that was what we all thought was best for him.

    If you ever need anything at all, don’t hesitate to get in touch! You guys are amazing!

  13. Iona@Redpeffer

    Oh, I’m so sorry, I read your post and then forgot I hadn’t left a comment. I can understand where you might be coming from. I think you have incredible strength and are an amazing mum. I hope this latest chapter helps a little with the grumposaur too and gives both of you a little space in which to breathe more freely. I would love to meet you guys one day, stay strong 😊

  14. oddlyactive

    Diagnosis is a funny time all round… on the one hand it is a huge relief to finally know, but on the other it makes not a blind bit of difference as far as the practicalities of day to day living go, and the ‘label’ can often get in the way of full holistic assessment and individual evaluation.

    As you say, time to concentrate of the good now. Very best wishes for that πŸ™‚

  15. mamaroddy84

    Wow – what a journey you’ve all been on! Such an emotive post and I admire your strength.

    We have struggled with a diagnosis for food intolerances but this is a whole new area for me to read about.

    I’d love to keep reading your blog to see how you’re all getting on.
    Popping in from love all blogs Wednesday linky


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