Mr Boo and public holidays don’t get on. All my plans for Easter 2012, a last and long holiday with Sissyboo before her little brother was supposed to arrive 2 and a half months later, was totally upskittled by his surprise entrance on the Monday before. Easter Sunday, as he lay lifeless quietly fighting meningitis and sepsis, was one of the most gruelling days I hope we’ll ever have to get through.
So we had high hopes for Christmas. We were all together, after all, and we were going to my parents’, so I could relax. We were going to make it up to Sissyboo.
And then Mr Boo started hiccuping on Christmas Eve while I was breastfeeding him after he had woken up from a nap. It was kind of funny and cute feeling the pulsing of his pleasantly chubby tummy against mine.
In the wee small hours of Christmas morning when he woke up for a feed it wasn’t cute any more. He wasn’t hiccuping, I realised. He was flinching to one side in an upwards movement from his belly to the crown of his head, which then turned to the left slightly. It was happening in clusters. These weren’t violent movements and he smiled throughout. But it was wrong. I knew it was wrong.
I woke up The Grumposaur. He was a little worried but since the movements stopped as quickly as they started he looked on the bright side. ‘It’s probably nothing,’ he said. I said I thought it was a seizure. He said it didn’t look like one. He was right: it didn’t. It was probably Mr Boo just doing one of his weird old Mr Boo things. (He has a lot of those.) We would wait and see.
We tried to make Christmas Day as fun for everyone, especially Sissyboo, as we could, but inside I was screaming in agony. I knew this wasn’t OK. In fact, I was terrified. You see, I thought I knew what it was, infantile spasms, and told my sister and The Grumposaur. We watched videos of children fitting with the spasms on YouTube. I know that sounds weird, but we were desperate. What Mr Boo was doing didn’t look like the videos we saw, but I knew. I knew this was what it was. Don’t ask me how. I don’t exactly know. My family didn’t believe me; correction: they didn’t want to believe me. And I didn’t want to ruin anyone’s Christmas with my unwarranted anxiety. We were having a big family party on Boxing Day for family members to meet Mr Boo for the first time. I didn’t want to spoil the fun.
But I couldn’t bear it. Just before the party was supposed to start, I phoned NHS Direct hoping they would tell me to go to A and E so the decision would be taken out of my hands. They did and it was. As my relatives pulled up to my parents’ house, I drove off, to Birmingham Children’s Hospital armed with a video on my phone of the hiccups-that-weren’t-hiccups as evidence.
Mr Boo and I were taken to a tiny examination room and he was thoroughly looked over by registrar. She was kind and listened to Mr Boo’s medical history with sympathy and concern. In the 8 months since having Mr Boo I’d got the recital of clinical facts down to a fine art. I sounded knowledgable as I rattled off acronyms. And words like periventricular leucomalacia (brain damage) positively tripped off my tongue. I sounded together and on top of things. Inside I was on my knees, sobbing incessantly and begging medical staff and any god who’d listen to me to help him, to make it all all right. Then when the SATS monitor came out I lost it. I think I may have had (correction: still have) PTSD. Certain triggers do prompt intense memories and visceral reactions. Seeing the little grey box that twice occasioned me to have to administer oxygen out of the wall to my baby floored me.
The registrar attempted to calm me down. Infantile spasms are very rare so it was very unlikely Mr Boo had them, she explained. Moreover the video I showed her didn’t look like a typical presentation of the fits, which often cause a child to jolt forward from the waist, head and arms coming forward in a grotesque prayer position, or can take the appearance of an exaggerated moro or startle reflex as arms and legs stiffen and thrust backwards.
Mr Boo had never entirely lost his startle reflex (he still has it a bit), which is not uncommon in children with CP. Even now, every few months and usually when he is in acute pain (teething or ear infection) you can’t lie him on his back without him startling and going bug-eyed. It used to worry me, but he does it much less frequently now. But when he first did it, aged about 5 months, I frantically Googled symptoms and kept coming across sites about infantile spasms. I read about this condition with a combination of horror at this devastating condition and relief that Mr Boo didn’t have it. I knew his startling was different. It was positional and you could snap him out of it. But what started on Christmas Eve was terrifyingly similar to what I’d read about a couple of months before. OK, Mr Boo’s jerks were not typical of the movements described on these websites, but, crucially, they only happened in small clusters after being asleep. And this was too much of a coincidence. Clusters of seizures in children suffering from infantile spasms most commonly occur as the child is falling asleep or waking.
The registrar thought we could go home, but wanted her senior colleague to see us first. When he came in the examination started from scratch and the requirement to recite the entire medical history reared its ugly little head again. It always does. My record is having to go through it all all 6 times in one evening trip to A and E for croup. I just couldn’t go through it all again that day, so I tearfully handed over the wadge of paediatrician letters I keep with Mr Boo’s red book in his change bag. Once a NICU mum … After telling me how impressed he was with my preparedness, he said that he also thought Mr Boo was probably OK but then asked to watch the video I’d taken. He wasn’t sure what was happening, but he was clearly concerned. We were admitted to hospital. Sorry Sissyboo!
Being out of area served us well, just as it had done when Mr Boo was born prematurely and unexpectedly 65 miles from home. That had taken us to a level 3 NICU that could take babies as premature as he was and cope with the health needs that emerged. Now, again desperately in need of specialist help, we found ourselves in a dedicated children’s hospital with a renowned paediatric neurology team. They met with me quickly and reassured me. The video didn’t look like typical IS, we were told again, but they wanted an EEG. We had one within 12 hours. Goodness knows how long it would have taken to get one in our hospital where they don’t have these tertiary services.
I breastfed Mr Boo through the EEG so he would sleep and the results would be as clear as possible. The lovely woman who did the EEG chatted warmly and kindly to me, but she couldn’t quite hide what she was seeing on the monitor we were on the other side of. I had to wait for a neurologist officially to interpret the results a little later that day, but I knew what to expect from the expression on her face. Even so, when a consultant came in later that afternoon to tell me they had found hypsarrhythmia (the chaotic brainwaves that diagnose this horrible condition) on one side of Mr Boo’s brain (the opposite side to the one to which he was turning during the fits) I sobbed like I have never sobbed before or since.
I had just got used to the idea that Mr Boo probably had cerebral palsy. Now we were facing a ‘catastrophic’ form of epilepsy that can cause cognitive and physical regression, global developmental delay and severe learning difficulties. And although IS is a transient form of epilepsy (hence the ‘infantile’ before the ‘spasms’) that usually stops by age 5 if not brought under control with medication before then, in more than half of children it leads to other seizure types later in life.
‘He doesn’t deserve this,’ I cried redundantly. ‘Neither does his sister’. The consultant hugged me, the only medical professional ever to have done this. ‘He is the same little boy’, he said. ‘We got this early and there’s no sign he’s regressed already’. Often developmental regression precedes the seizures. ‘We will beat this.’
We were run through the various treatment types. Frontline treatment varies slightly from country to country and different drugs are more effective than others depending on the underlying cause of the seizures, which in Mr Boo’s case, is likely not genetic or metabolic (although we haven’t had those tests yet), but his brain damage. A 6-week high-dose steroid course of prednisolone is the most common treatment in the UK. They wanted to start us on it straight away, but Birmingham inject these steroids, a treatment that requires regular visits from an epilepsy nurse throughout each week of the course, initially to administer injections and then to monitor for high blood pressure and blood sugar (two of the raft of side effects this drug can cause). Sadly, our hospital couldn’t support this, so Mr Boo was put on a tranquiliser to get us back to our hospital where a course of oral steroids would be prescribed.
The treatment schedule was explained to us in detail and the neuro phoned our hospital to talk to whoever would be looking after our care when we got back home. Since there are no neuros at our hospital, Mr Boo’s treatment would be ‘overseen’ via telephone calls (‘overseen‘ is an odd word to use, in the circumstances, don’t you think?) from St George’s. There was also, we were told, a very experienced community paediatrician who was also an epilepsy consultant who would look after us longer term, we were told, but he was on holiday for Christmas for two weeks. This did not bode well.
But I don’t want to turn this into another of the how-the-local-hospital-let-us-down-again posts, how their initial refusal to send a community nurse to us led Mr Boo to contract RSV and bronchiolitis from the hospital. How we were rehospitalised as a consequence. How I had to keep producing NHS treatment protocol guidelines and crying to consultant secretaries to get things done. Oh, it’s turning into one of those posts…
Where was I? Oh yes. The prednisolone did not work at first. 1 week at 40mg and the spasms were still there. The day we went up the maximum dose of 60mg they stopped and he has been seizure free since. (This doesn’t always happen but there are various other drugs and even diets that can help.)
So the drugs worked, but they nearly killed me. I’m not exaggerating. My depression and anxiety, about which I had never seen anyone before this time, became unbearable and I changed personality entirely (I’m still not me) as I spent all day staring at my baby, seeing the world as if through a piece of red sweet wrapper waiting for him to fit again. Knowing I couldn’t stop it, afraid he would sleep and wake to fit.
The side effects of the steroids were excruciating. Our chilled out little man screamed all day; he ballooned in weight and didn’t look like Mr Boo any more. His appetite became insatiable. He fed every hour for 30 minutes. I was still breastfeeding and he wouldn’t let me give up. In 5 days I lost 7lbs while eating normally. What’s more, his immune system became greatly suppressed and has remained so for the 3 months since we weaned off the steroid course. We were told that if he came into contact with chicken pox, measles or whooping cough he would need immediate hospitalisation as these diseases could kill him. He still hasn’t been able to have his MMR jab or an MRI as they have only just (last week) left his system.
As bad as any of this these side effects, though, was that Mr Boo became acutely insomniac. For 8 weeks he slept for no more than 3 hours A DAY, in 50 minute chunks. And I couldn’t get him to take a bottle. I was awake all the time for the best part of two months solid. I thought I was going to lose my mind for good.
But I didn’t and Mr Boo’s reaction was extreme, so please don’t worry that what happened to him will happen to your little ones.
The long-term implications of the spasms are still unknown. Mr Boo is developmentally delayed, but then he was before the spasms began and probably these delays can be explained by the CP we’re awaiting a diagnosis for. Cognitively, he seems fine so far, but time will tell. The anti-convulsant he’s on as a maintenance medication is working for now.
We don’t know what’s coming in the future. But you know what? We did survive it and we are lucky. His seizures are under control and I am more grateful than I can say that they came at Christmas because we ended up somewhere well equipped to deal with this problem and, most crucially of all, to diagnose him.
Before I finish let me say again. Infantile spasms are rare. Chances are your child and most children you know will not experience this. But here are some red flags I urge you to familiarise yourself with:
1. Does you child exhibit strange movements that involve limb stiffening and/or jerky head movements either forwards, backwards or, as in Mr Boo’s case (more rarely) to the side?
2. Do these movements typically occur in clusters?
3. Do these clusters commonly occur before sleep or after waking?
4. Is you child regressing? Have they stopped smiling or laughing? Or are they finding it harder to sit or crawl after accomplishing these milestones?
5. Is your child under a year old? Most, but not all, children develop the spasms before reaching 12 months, typically between 4 and 7 months.
Please note that any of the symptoms listed above can have multiple causes other than IS. Note also that a child with IS may not have all of these symptoms.
But, if you are worried, please consult a doctor, armed, if possible with a video of the suspected spasms. It is clear to me and to many others I have talked to on message boards and support groups since that this is not a widely understood or recognised condition. So if your concerns are dismissed or the condition persists without diagnosis (exaggerated startle response – a genuine condition – is often diagnosed for IS, for example), please get a second opinion. Crucially, get an EEG or you’ll never know.
The good news
Prognosis of this condition is very much dependent on the underlying cause, but early treatment does seem to significantly improve the outcome.
If you need further advice or support here are some resources I have found useful. If you know of others, please let me know via the comments box.
1. The Infantile Spasms Community: This online forum got me through some very dark hours. It has a moderator and you have to apply to join, but I got onto the forum quickly and greatly benefited from the collective wisdom and generosity of this global community.
2. Infantile Spasms National Institute of Neurological DIsorders and Stroke (NINDS) Information Sheet
3. NHS guidelines on the treatment protocol for IS. I had this downloaded to my iPhone and repeatedly showed it to doctors and quoted it frequently.