UKIST’s October warrior – Jonjoe’s story

Jonjoe and his twin brother Jamie were born prematurely at 28 weeks by emergency C-section. Jonjoe was the bigger, stronger twin at a whopping 2lb10oz and pretty much sailed through NICU. He was the twin we thought we didn’t have to worry about! 

It soon became apparent to me that there was something not quite right but I couldn’t put my finger on it. His behaviour started to stand out as odd particularly when he didn’t quite reach certain milestones such as fixing and following on objects, but he would gaze at light so I felt that he could see ‘something’. I raised this issue at a physio appointment where we were referred to ophthalmology. 

We got the eye appointment when Jonjoe was 8 months old (5 months corrected) and it was confirmed that he was presenting as completely blind. His consultant gave him a diagnosis of ‘delayed visual development’, told me that it could just suddenly come on like a switch, and said to come back in 7 months. 

Shortly after this appointment I raised concerns with Jonjoe’s physio about some vacant episodes I had noticed. I managed to capture some on video and she advised me to phone our main neonatal consultant about possible absence seizures. 

I also became concerned about Jonjoe’s development as it seemed to be going backwards. He stopped laughing, couldn’t grab anything and he stopped trying to roll over. He was just a shell of a baby who spent the days sitting and staring into space, not interacting or reacting to anything. It was utterly heartbreaking, especially seeing his twin brother developing well and trying to get his attention.

Then, Jonjoe started doing some very odd movements as though he had got a fright. The movements came in clusters and at first they didn’t seem to really bother him, he just looked surprised. I wasn’t initially concerned because they were infrequent, I just thought they were a bit strange but made a note to monitor them and mention it in our upcoming consultant appointment. 

About a week before the appointment, these spasm-type movements started increasing in frequency and Jonjoe started becoming upset or extremely sleepy afterwards as if they exhausted him. I started videoing them vigilantly as by now I was certain they weren’t quite right but I didn’t feel confident about taking my concerns to a doctor – to say what? My baby is getting frightened? He is crying? Who would take me seriously? 

On a whim I googled some of his symptoms and found a web page about West Syndrome. Reading it was like they had written it about Jonjoe – delayed development, jack-knife movements and more. My heart dropped when I discovered that West Syndrome was also linked with vision problems with many children appearing to be blind despite having no physical problems with their eyes. 

I read about how Infantile Spasms require emergency intervention and I honestly thought, really? But they look so innocent! It’s probably nothing. I was second guessing myself, as I am not the kind of person to rock up to the doctors for the slightest thing for fear I am wasting someone’s time.

However, the fear of ‘what if’ was still there, whittling away at my nerves, especially as Jonjoe’s ‘attacks’ were becoming more aggressive at an alarming rate. 

I found the UKIST website and followed the link through to their Facebook group where I posted the latest video I had taken of one of Jonjoe’s episodes. Members immediately jumped on my post with comments such as ‘I’m sorry but it looks like IS’ and urged me to have him seen for an emergency EEG as soon as possible. It was a Saturday and I was told the best I could expect was to have one on Monday at the earliest, as the department is closed on weekends. They advised me to keep recording and head up to our nearest children’s hospital with my evidence then.

As it turned out we didn’t make it to Monday. The very next morning, Jonjoe had a severe cluster of spasms that changed his whole facial expression. The best way I can describe it is as if he was being electrocuted. He became so distressed afterwards that nothing would calm him down, so, unprepared to wait a second longer and leaving his twin brother with daddy, we headed off to our local A&E. Luckily we have the RVI in Newcastle on our doorstep that has a paediatric neurology department. 

As I expected, when we got there Jonjoe had calmed down and I felt under scrutiny. The doctor we first saw watched my videos and agreed they didn’t look right but he had never seen anything like it before and suggested that if Jonjoe was ok during our visit, we could go home and they would order us an EEG. 

The doctor left to consult with some colleagues, and that’s when Jonjoe experienced a full tonic clonic seizure. I had started filming the seizure as it started like a normal spasm cluster, and then he got ‘stuck’. I asked the nurses at the station outside the door to help, they came running in and that was the deciding factor for us becoming inpatients. Although it was very distressing for me, I’m just thankful he did it while we were still at the hospital. 

Another doctor came along and after watching my videos immediately said he suspected Infantile Spasms and we would get an EEG the very next day. In the meantime Jonjoe was started on Keppra which he is still on now, 7 months later. He continued to have spasms, which evolved into tonic clonic seizures twice more and he required oxygen during these episodes. I couldn’t believe just how quickly he was going downhill, it was a horrible, helpless feeling to watch him being attacked this way and not being able to do anything to stop it.

The EEG did indeed confirm hypsarrythmia and we were assigned a neurologist who told us that with the combination of spasms and developmental regression, Jonjoe had West Syndrome. He was immediately started on a high dose of Prednisolone. 

The treatment was extremely tough, with Jonjoe’s appetite soaring and his weight along with it, but the support and advice of everyone on the UKIST group helped get me through those difficult 6 weeks! Thankfully, Jonjoe has been spasm free from day 8 of treatment and was weaned off pred successfully in March. 

Now, Jonjoe is doing a lot better. He is laughing, grabbing, reaching and rolling over but the most amazing miracle of all is that his vision started coming in after we gained control of the spasms! I’m very happy to say that he can now see!! 

He still can’t sit unaided at 16 months, and doesn’t weight bear, but we have the support of a fantastic physio team and an occupational therapist. Although he has a long way to go, we are confident we have all the measures in place to help him develop at his own pace. 

Since Jonjoe’s diagnosis he had an MRI which confirmed that he has PVL (periventricular leukomalacia – damage to the white matter in the brain common in premature babies) and this is the cause of his West Syndrome. We are still waiting to find out the extent of the damage and what it means for his prognosis but by now I am used to the game of ‘wait and see’. 

All in all, I am just so happy that we caught the IS and managed to get it under control quite quickly and I can’t thank UKIST enough for being the deciding factor that encouraged me to take him to hospital and for all of their ongoing support!