For Infantile Spasms Awareness Week 2023, Christine and Paul shared this piece with us about their son Harry's journey and diagnosis with Infantile Spasms...
In December 2021, we welcomed our beautiful baby boy Harry. After a difficult entry into the world, we were eager to bring Harry home and begin our journey as a new family. Christmas was fast approaching and we were extremely excited about spending valuable time with family and friends and our new bundle of joy.
From the very beginning Harry had many beautiful qualities that any parent would be grateful for. He was an excellent sleeper at night and we were able to establish a bedtime routine with him easily. He fed extremely well and outgrew his clothes rapidly. In addition to this he had the most beautiful big blue eyes and a cheeky smile that made you fall completely in love with him.
We had a difficult start to Harry’s life as 1st time parents. The first few weeks we were in and out of hospital for multiple appointments, blood tests and ultrasounds as Harry had high levels of direct bilirubin. The doctors were unable to determine the cause but the issue resolved itself over the next few months. At 10 weeks Harry was also admitted to Hospital for three nights with Covid19. This was a daunting and upsetting experience but thankfully he recovered well, and we were delighted to get him home.
In the following months we also observed a physical tension throughout Harry’s body. His arms and legs would stiffen then relax and then stiffen again in an unusual way. His consultant said this looked like stereotypies and as he had no further symptoms it was confirmed that these movements were a part of normal development, so it was nothing to worry about. We often felt preoccupied with worry about how irritable Harry appeared. As a first time mother, I experienced a daily mental battle whereby I questioned if this was “typical” baby behaviour or if something more sinister was occurring. Although unhelpful, I couldn’t help myself in comparing Harry’s development and behaviour to babies of similar age and I felt he appeared less content. At the time, this was a lonely space to be in as I knew deep down that something didn’t feel right. Harry was meeting most of his early milestones albeit at a slightly slower pace than expected. There were also some minor delays but we were keeping a close eye on this with the public health nurse.
At this point we were experiencing fatigue and anxiety from the constant worry and for this reason, we needed reassurance in relation to his delivery so we had a birth review with his maternity hospital. Following that we then made a decision to move forwards. We wanted to be able to enjoy our family time and not impact his first year by overanalysing every little detail.
On Halloween night 2022, I remember Paul, Harry's Dad commenting that Harry had made an unusual head movement. His head dropped down, then came back up slowly. At the time we didn’t give it any further thought. These isolated head drops happened another few times over the course of the next three months but again we didn’t think anything of it due to its seldom and subtle nature. Then one evening when Paul was holding Harry in his arms, things escalated and he had a cluster of these subtle head drops, one after another, a few seconds apart. We figured something was wrong and we recorded the head drops using a phone. As it happened a family friend is a Consultant Paediatric Neurologist, so Paul decided to send the videos to him. Almost straightway we received a call from the consultant, he said it looked like infantile spasms and to get into A&E immediately. We hadn’t heard of the term before but we knew it was bad. It was at that moment the tears began as we just knew that all of our lives were about to change forever.
The day and night in A&E were a blur as we had to wait for hours for Harry to be seen. We had the videos and we knew he needed to see a neurologist and have an EEG test as soon as possible, so we strongly advocated for this at every opportunity. In the meantime, panic and frustration quickly grew as Harry was extremely upset and irritable. He was unable to sleep and the seizure’s continued to happen in clusters amounting to approx. 80 - 100 head drops in one day. This was devastating to witness as we felt that with every seizure it could cause further damage to his brain and development. All we could do at this time was wait and feel completely helpless.
Harry had his EEG test and shortly afterwards the Neurologist confirmed that Harrys EEG showed dangerous and chaotic brainwaves called “hypsarrhythmia” and with that in February 2023 Harry was diagnosed with Infantile Spasms. Infantile Spasms are a medical emergency due to the damage they can cause to a developing baby’s brain. Nobody can ever prepare you for the feeling of being told that your baby has such a rare diagnosis, it was truly heart-breaking.
The next step then was to investigate the primary cause of Infantile spasms. Our Neurologist explained that there may be better outcomes for children who have Idiopathic Infantile Spasms, in that there is no clear cause. An MRI of Harry's brain was ordered to determine if there was a symptomatic cause for Harry’s diagnosis. Putting Harry to sleep in the MRI was one of the lowest moments. The MRI drowned his little body and he looked too small for such an intimidating machine.
Devastatingly our neurologist delivered another diagnosis. The MRI showed a brain abnormality called focal cortical dysplasia (FCD) which happened when one part of Harry's brain did not develop correctly whilst in the womb. The Neurologist explained the location of the FCD is in his left temporal lobe meaning that his speech, language, communication, learning and memory will be impacted.
It is hard to explain the feeling of being told this news. Our world in that moment came crashing down, our hopes and dreams dissipated in an instance. Overcome with fear we asked the neurologist a succession of questions such as “Will he ever talk, will he go to mainstream school, will he play football, will he be able to drive, will he have independence?” etc. whilst we did receive some positives, the overall response was “We just don’t know”.
Harry began a course of steroids and anti-seizure medications and thankfully his seizures stopped within a few days. Eventually he was weaned off steroids after 8 weeks but still remains on anti-seizure medication daily. Due to the brain abnormality there is a high risk that his seizures may not be controlled by medication in the long term at which point brain surgery potentially becomes an option.
Epilepsy and infantile spasms are so much more than just seizures and for us it means he will have to do extensive therapies in order to give him the best chance of speaking and developing like his peers. Unfortunately, the waiting list to access the Children’s Disability Network Team (CDNT) in the public system is two and a half years, and as early intervention is key we decided to go private. Harry has received physiotherapy, occupational therapy and speech and language therapy. He started walking at 19 months which was an incredibly proud moment. His primary goal now is speech, language and communication and we have an excellent therapist. We are beyond proud of the little strides he is making. His strengths lie in his interest in people and we can tell he is so eager to communicate and play with others.
For us the cruelty of this diagnosis has been the unknown for Harry’s future. Unfortunately, no doctor can predict a complex child’s future and we are left with so many unknowns. Only time will tell but ongoing assessment and intervention will be a part of his future. While we have struggled with the grief of this, we now look back at the ground we have covered in such a short space of time, there is light and there is hope for our little man. We have truly celebrated every “inchstone” that Harry meets and he even claps for himself with the biggest smile during these celebrations. There is a long road ahead but Harry’s determination and resilience is inspiring and the joy he brings us every day is immeasurable. We are so proud of him!
We would also like to take this opportunity to publicly thank everyone involved in Harry’s care since we began this journey – including his medical team, consultants, GP, Pharmacy, neurology nursing team and therapists. We have also been so thankful to have the staff at Harry’s crèche. They have been nothing short of accommodating and he really loves his teachers. A special thank you to all our family and friends who have been incredibly supportive throughout this difficult period.
My advice to any family that are questioning their baby’s movements is to trust your instincts and continue to push for answers. I wish we had of known about Infantile Spasms, and I hope that this information can spread knowledge and awareness to support families in advocating for their children. It is crucial to remember the word STOP as early treatment can reduce the risks of poor outcomes.
See the signs
Take a video
Obtain diagnosis
Prioritise treatment
Thank you to everyone who has read our story and we hope by sharing it, we can help at least one person in the future.
Thank you, Christine and Paul, for sharing your and Harry's story.Visit the 'Infantile Spasms' section of our website to learn more about Infantile Spasms.
