Alex and Lachie's Story - Epilepsy Queensland - share your story

Alex and Lachie's Story

As a first-time Mum, Alex Booth had never heard of “Infantile Spasms” when her son Lachlan was diagnosed in November 2020 at only 8.5 months old. This year, as the anniversary of his diagnosis approaches and for Infantile Spasms Week which runs from 1-7 December, Alex is honouring her little Epilepsy Warrior by sharing his story and raising awareness of the condition. Read about their journey below, in this courageous Mum's own words.

Subtle Symptoms to Start

“I couldn’t tell you exactly when it started, but somewhere around when Lachie turned seven months old, he started nodding his head. The first time we noticed him do it we were at my sister’s house and she exclaimed how cute it was – that he must be tired! As a first time Mum I was still learning the ropes and was happy to take it from her that it was normal. But then over the course of the following weeks we noticed he started to do it more and more frequently, and the movement became more pronounced to the point where sometimes he would cry when he did it because he looked like he was hurting his little neck. Then one day I started to notice a very subtle eye roll and almost a shudder movement and it was at this point we started to think that we might need to get somebody to have a look at Lachie.”

A Challenging Diagnosis

“I uploaded a video of one of his head nod episodes to an online Mother’s Group and it just so happens another member who was a Paediatrician saw it. She said that while she couldn’t diagnose in that forum, she strongly suggested we get seen to ASAP and she connected us to an after-hours emergency Paediatrician telehealth network. That same night sitting in our lounge in our pyjamas, my husband and I had a telehealth appointment with a Paediatrician who also reviewed the same video and asked us to meet her at the Emergency Department of the Queensland Children’s Hospital the next morning; and to pack a bag just in case. Going to sleep that night I remember thinking surely she’s just saying that to be safe – there’s no way we would be admitted.

When we arrived the next morning, we were ushered straight through to give Lachie an EEG (brain scan) and by lunch time that day we had a diagnosis of Infantile Spasms (also known as West Syndrome). Lachie’s brain waves recorded on his EEG were showing the classic pattern called hypsarrhythmia which identifies the condition.”

 

A 'Neurological Emergency'

“Infantile spasms was described to us as a “neurological emergency” and they explained that these rogue signals in his brain were like a lightning bolt effectively zapping off his little brain cells each time they went off. We learnt that his cute nods were actually seizures and that gaining seizure control as quickly as possible is the key to getting the best outcome possible. Lachie was immediately started on a course of Prednisolone (steroids) as his frontline treatment and received his first dose while still in the Emergency Department. I will always be grateful to his wonderful Neurologist Dr Kate Sinclair for taking swift and aggressive action to combat Lachie’s condition head on, and I credit her and her team with saving our son.

What follows is a bit of a blur to me. It was the worst six weeks of my life. We wound up being admitted to hospital for three nights and while we were there Lachie was put under General Anaesthetic to have an MRI and lumbar puncture. As he continued on his course of steroids, he put on weight very quickly and had an insatiable appetite and was also very irritable. He wanted to eat 24/7 and as a breastfeeding mother I could not keep up with him and had to resort to donor milk to help keep my child fed. He would only stop crying if you stood up and bounced with him through all hours of the day and so my husband James and I took it in three hour shifts overnight to give each other some sleep.”

 

 

Side Effects and Survival Mode

“Lachie was on an adult dose of this strong steroid and his weight ballooned to 15kg by the time he was a few weeks into his treatment. At only nine months old he was into size two clothes because he just got so big so quickly. Prednisolone is such a strong drug that Lachie was only allowed to be on it for six weeks total and on 12 December 2020 we commenced a two week wean from the steroids while at the same time introducing a different anti-seizure medication called “Sabril” or “Vigabatrin”. I am very grateful to be able to say that we never saw another seizure from Lachie beyond this date when he had his first dose of Sabril. Lachie then finished his wean from the steroids on Boxing Day 2020 – it was definitely not what we would have imagined for his first Christmas.

Over the course of the following eight months Lachie stayed on his Sabril morning and night and we continued to go in for regular EEG’s at QCH. His sleep was absolutely terrible which I’m told is a side effect of this drug and our family continued on basically in survival mode juggling two demanding full-time jobs, no sleep and a sick toddler.”

 

 

Lachie "Comes to Life"

“Over time his EEG’s were becoming clearer and clearer and in his most recent check-up in July where there was no change from his prior EEG, Dr Kate suggested that we try weaning him off the Sabril. I was very nervous to begin this process in case we saw the seizures return but it actually turned out to be the most wonderful couple of weeks. As Lachie weaned off the Sabril it was almost as if a fog was lifted. Over time he became more and more animated and within a few days of receiving his final dose in late August (nine months on from his initial diagnosis) he took his first steps and started speaking too. It was wonderful watching him come to life over this time!

When Lachie was first diagnosed we were told that there were three possible reasons for him having this condition – a physical cause, a genetic cause or an unknown cause. For 30% of children they never find a reason for them developing Infantile Spasms and they tend to be the children with the best long-term outcomes. Over the course of the last year Lachie has had two MRI’s and full genomic sequencing which have all come back with nothing so I am very thankful to say we fall into that 30% bucket. We don’t know why this has happened to Lachie and our family, but are hopeful that this means we will have a better outcome over the long term.”

 

A Waiting Game

“Lachie is still behind the other kids his age and we’ve been told that he is likely to have some learning difficulties, but we have just been accepted onto the NDIS’s Early Childhood Early Intervention program and so we are hopeful that with the right support behind us we can bridge that gap over time, although the extent of the gap won’t really be known until he gets closer to school age. We don’t know if he will need to go to a special needs school, or if maybe just some after school tutoring will do the trick. As a child with Infantile Spasms, we also understand that Lachie has a higher chance of developing other types of Epilepsy later in life.

For our family, this probably also means that Lachie won’t get a sibling. In our recent genetic testing appointment where they told us they found nothing, they also told us that this means they wouldn’t know what to potentially screen for if we were to try again for more children. Whilst the chances of having this happen again are apparently quite low, I don’t know that it’s a chance we’re willing to take… or at least not for a few years until the longer-term impacts of this for Lachie have become clearer.”

 

 

Facing the Future...Together

“Reflecting on our time when we were in the thick of it, I honestly don’t know how we got through that time… but with a lot of support from our friends and family and also Lachie’s wonderful medical team at QCH we did. Some days we just wanted to give up and we took turns carrying each other and allowed our village to carry us when we needed it while we all focused on getting Lachie through. In the middle of the steroid treatment sometimes it was just a matter of taking it day by day or even hour by hour but somehow we came out the other side and we DID get through it. A year on now it feels like a lifetime ago and also yesterday at the same time.

While it’s an awful thing for any family to have to go through though, it has also made us very grateful for what we do have. Today Lachie is the happiest little guy. He is super cheeky and also a very sensitive soul who loves to give and receive cuddles and kisses and brightens our world. He loves cars like his Dad and music like his Mum and regardless of the challenges we’ve faced to date and what may still be on the road ahead for us we wouldn’t change him for the world. This definitely isn’t what we imagined starting a family would look like but he is perfect in every way to us and we couldn’t love him more. Whatever the future holds we will face it together with our courageous little man and we hope we can offer some hope to other families that while life may never be “normal” again, it can be happy and whole again.”

 

 

If you’d like to share your story, you can send it to us or request the list of prompt questions by emailing pr@epilepsyqueensland.com.au.

Epilepsy Queensland