Warrior of the Week 2018 – William

William was a very happy, healthy baby for around 6 months, but then started to become a little less smiley. We thought little of it at the time, assuming it was a phase he was going through. However, at around 7 months (last October) he began to have what we now know were infantile spasms. These began subtly, as head drops (when sitting up) and extensions of both arms. After a week or so my wife Holly found videos of infantile spasms online and what William was having seemed to match.

I took him to his GP, described the symptoms and showed a video I’d recorded (admittedly the spasms on the video were not the clearest). The GP obviously thought we were paranoid and dismissed the evidence, suggesting that William had a check up in several weeks. This almost convinced me (although not my wife) that all was okay but the very same day William had a much more obvious set of spasms that I was able to record. We decided to take him directly to A & E at the Birmingham Children’s Hospital and were immediately taken very seriously. Within a couple of hours we’d been referred from nurse to doctor to neurologist and had been told that he probably did have infantile spasms. A couple of days later William had an EEG scan, which confirmed the diagnosis. On the same day we had a very useful chat with the child epilepsy team leader, who predicted that William’s spasms would be relatively straightforward to treat due his normal development so far.

Following William’s diagnosis he was immediately started on a course of ACTH (steroids) and vigabatrin. Sure enough, he responded extremely well (medically-speaking) to the medication, with his seizures completely stopping after a day or so. However, the medication did seem to make him very agitated and at times lethargic. It also caused his blood pressure to rise, which led to a further set of blood pressure-lowering medication. William was only on the latter for a week, but for the whole time he was hyperactive! There were a few nights when we would wake to hear him laughing his head off in his cot in the next room! This is not a known side effect of the medication but I am sure it caused the change in William. Despite the lack of sleep it was really nice to see him smiling and laughing again.

Two weeks after beginning his course of medication William had another EEG scan, which revealed no obvious abnormal brain activity. The drugs had worked! Around this time we also got the results of an MRI scan William had had, which also revealed no significant abnormalities. The specialists told us that this probably meant that William’s infantile spasms were of cryptogenic nature (no known cause). We were extremely happy about this as the statistics suggest that babies falling into this category have a better chance of normal development. The only item of note from the MRI scan was that the coating of William’s brain (referred to as myelin) was slightly asymmetrical in its development. I will come back to this shortly, but at the time it was believed that this was essentially normal.

For the next two weeks William was given a weaning dose of steroids, whilst his vigabatrin dose was initially raised. The plan was to continue with a relatively high (2 x 500mg) daily dose of vigabatrin for the next 3 months. However, on the higher dose William became extremely tired, to the point where he would be asleep for the vast majority of the day and not able to engage in meaningful interaction very often at all. On reporting this (together with discussing my concerns regarding the link between vigabatrin and peripheral vision loss) the dose was lowered, with instruction to stop altogether after a couple of weeks. I presume this was due to how effective the medication had been, leading the specialists to think that the spasms were unlikely to return.

For the next several weeks William enjoyed life and seemed to develop in leaps and bounds. Since his diagnosis we have always been aware of the potential for developmental delays so have carefully monitored his progress. And although William still showed little interest in crawling or pulling himself up on furniture he appeared to be well developed in terms of his fine motor control and babbling. We have also always had the sense that there is an intense alertness to William, but perhaps all parents feel like this.

William enjoyed interacting with all the family over Christmas and it was beginning to seem like the whole infantile spasms affair was some kind of bad dream that we had all moved on from. However, on the 27th December the spasms returned. They were more subtle than the previous episodes but now we knew what to look for and we had no doubts. This time, though, William’s EEG scan showed abnormalities that were localised to the left side of his brain. This was the area for which the MRI scan had revealed delayed development of myelin – the brain’s coating. Initially we didn’t know what to make of this and William was quickly started on a course of medication. He was given only ACTH initially, but the spasms continued to occur for a few days so he was also prescribed vigabatrin. He is currently just starting another weaning dose of steroids and is due to continue taking the vigabatrin for another 3 months (although this is again causing him to be very sleepy). He has not had a seizure (at least not that we have observed) since about 5 days into the treatment so again it has been a very successful course, for which we are very grateful.

However, yesterday I spoke to the lead of the child epilepsy team, who told me that the return of William’s spasms make it less likely that he will develop completely normally. I also learnt that the localisation of abnormal brain activity to the left side of William’s brain may mean that this area is malformed. I suppose this malformation would have to be small, since it wasn’t revealed on the initial MRI scan, but this was still not nice to hear.

So we are in a bit of a tough place right now. Right from our first conversation with the specialist after William’s initial diagnosis we had chosen to be very positive. This wasn’t a brave or difficult decision because all the subsequent news we received was good. Everything seemed to point to a full recovery. However, in recent days the situation seems to have changed. William is no longer the ‘perfect patient’ we were told he would likely be and we can no longer think of his spasms as a single blip in his development. In addition, he is still not crawling and shows no interest in waving or clapping, which I understand many 10 month olds can do.

Saying all this he is an extremely special boy and will be talented in many ways, despite any potential delays. I know deep down it doesn’t matter what the outcome is for him: we wouldn’t have him any other way and he will have the very best opportunities we can give him throughout his young life. We are generally positive people and we will bounce back from whatever nature and genetics has to throw at us!


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