Our April ‘fair warrior’ Finley

We chose the name Finley as it means ‘fair warrior’ and he has certainly lived up to that name. From day one Fin has kept us on our toes! He was born quite poorly and had a seizure within hours of being born. Initially they thought he had been starved of oxygen at birth and was whisked off to a higher level NICU for a cooling process, which helps to reduce any further damage to the brain. However, at just under a week old, following an MRI scan, we were informed that Fin’s brain hadn’t developed properly during the pregnancy, and we were told he had pontocerebellar hypoplasia. This basically means he has a small pons and cerebellum. Due to other features Fin presented with they suspected it would be a genetic condition.

Fin spent 7 weeks in NICU and the special care baby unit in total. During the last few weeks before we were discharged home we raised some concerns about some of the movements that Fin was doing. Having googled varying descriptions of the movements he was doing we came across a number of things, one of which was Infantile Spasms (IS), which we had never heard of. Nonetheless we were alarmed by what we read and raised it with the doctors just in case. Fin had already had an EEG at 3 days old and we were told that it couldn’t be IS as it didn’t show a particular brainwave pattern. We didn’t have the knowledge then and we were so overwhelmed with everything we didn’t feel the need to challenge it at the time.

At the end of November 2022 we were finally discharged home with our little boy. We had been told he was likely to have additional needs and told lots of things that he probably wouldn’t do. We should have been excited about spending our first Christmas at home as a family but those few weeks leading up to Christmas were extremely difficult. We were trying to navigate our way as new parents while trying to process everything that had happened and dealing with lots of niggling doubts that something just didn’t seem right with him. We had direct access for the children’s ward at our local hospital and took him back to be checked out, as we were still concerned about the movements he was doing. We were told we were over feeding him, and it was reflux and then told it was his startle reflex. On Christmas Eve Fin ended up having a continuous cluster of seizures and movements and we took him back to hospital, he was admitted for two weeks and we spent our first Christmas and New Year back in hospital. He was eventually sent for another EEG at the start of the New Year after we raised concerns with PALs as we still weren’t being listened to. At 12 weeks old Fin was diagnosed with infantile spasms. He didn’t have the typical hypsarrhythmia present on his EEG, it was the videos we shared in conjunction with the presentation of his EEG that led to the diagnosis. Fin was at higher risk for Infantile Spasms due to his underdeveloped brain and I was angry and frustrated that our concerns were not taken seriously.

We waited 12 months for genetic results and found out in December 2023 that they have found a variant to his CLTC gene of unknown significance. They have basically told us that they think this is the reason behind Fin’s challenges and we can treat this as his diagnosis but because it is extremely rare and there is no one else with his specific genetic code they don’t have enough evidence to say with certainty.

After being diagnosed with IS Fin was started on vigabatrin straight away. However, due to him only being 12 weeks old there was a reluctance to start him on steroid treatment, which we didn’t really understand. We had a number of weeks of confusion, but thanks to the information and advice we obtained from the UKIST Facebook community, we gained the confidence and knowledge to fight and advocate for Fin to start the steroids. Unfortunately, the steroids didn’t work for Fin and the spasms continued and we were gradually starting to see some focal seizures come through also. By this point his spasms were quite aggressive, his whole body would ‘jackknife’ as we called it, where his head would fling one way and his limbs crunch another way and he would also become quite upset and distressed. We agreed to try topiramate as the next step in the hope that this would be our miracle.

Four weeks into starting topiramate Fin became really poorly with a nasty chest infection in July 2023. He was out of it for about 4-5 days and gave us a bit of a scare as they thought he had got encephalitis. Upon coming round we were anxiously waiting for the spasms and seizures to start again but they never did! Was this some miraculous reaction to the illness he had or was it the topiramate working? We had the best few weeks with Fin. He started smiling for the first time, was very alert and interactive and generally much more content. Towards the end of August we started to see some seizures re-appear but we still hadn’t seen any physical spasms and assumed he was spasm free. Initially we thought it must be the topiramate working, but now we’re not so sure.

At the start of September Fin was diagnosed with dystonia after being admitted to hospital following dystonic storms that seemed to come out of nowhere. His smiles gradually stopped again by the end of September and we put this down to the dystonia and medications he had been put on. Fin has had a really difficult time since September, showing irritability and distress that we haven’t been able to get to the bottom of. However, in January we saw a couple of movements that looked very suspicious of subtle IS activity. After raising our concerns about these movements we found out that a 24h EEG Fin had in September may still show spasm activity but we were never informed of this. Since January these movements have gradually progressed and are more prominent now along with Fin’s personality and interest in things getting flatter.

Fin is a complex little character, he’s had so much going on the last few months that it makes it so hard to unpick everything. However, we can’t help but wonder now if it has actually been underlying seizure/spasm activity causing the issues. Have the spasms been sat there all along under the surface without us being aware or was Fin spasm free and is currently experiencing a relapse. We are currently fighting hard to find the answers we need. Fin really is our little warrior, he has had such a difficult time in his 18 months so far and I know his cheeky little personality is in there, as he still manages to give us glimmers of it despite everything.

One thing I do know is that we would have struggled a lot more on this journey if it wasn’t for finding UKIST. Having people to speak to that can relate to what you are going through and just ‘get it’ makes such a huge difference. It is a powerful feeling to know that you are not on your own.