Our August warrior – sunshine boy Leo!

Leonardo was born in May 2021. Leo arrived two weeks early and was a very healthy size at birth. Everything seemed great with his development and he seemed to hit milestones early.

Around the October time Leo started to change a little. He started to get very irritable and in the evening would spend a couple of hours just screaming and nothing seemed to settle him. As time went on he started to smile less and generally seemed to be going in and out of a tranced state. I seem to remember it was Bonfire night when Leo had his first spasm. We had just started the weaning process and figured it was probably indigestion or constipation that was causing him to scrunch up. This went on and gradually he would have about 6 episodes a day lasting around 10 minutes at a time. I began to get worried and caught the episodes on video and took it to the doctor. The doctor misdiagnosed Leo with reflux and said see how he goes on. The next day after more spasms it just didn’t sit comfortably with me and I called the same doctor back and said I just didn’t think it was to do with his eating. He made a referral to Paediatrics at our local hospital which was a two week wait. At this point Leo was seemingly more and more dazed and had stopped smiling completely.

On November 18th I took him to see the Christmas tree at the local café. There was no reaction to the glittery baubles, Leo looked as if he was blind and seemed to look through anything in front of him. That evening he had a spasm and didn’t come out of it, he was unresponsive and limp. I called an ambulance where we went to A&E and spent 4 days in Hospital. The videos I had taken were so important in getting us seen and taken seriously. The epilepsy specialist came to see us the next day and said she suspected Infantile Spasms. Over the weekend he had blood and urine tests but we had to wait for the MRI scan and an EEG. The MRI came back clear which was a huge relief but the EEG confirmed hypsarrhythmia, Infantile Spasms. Leo actually started steroid treatment before this was confirmed and then the combination treatment with Vigabatrin was introduced. We were so lucky, on November the 22nd the spasms stopped immediately.

A few weeks later we received a call from the specialist who said something had popped up on Leo’s genetic tests, a deletion on Chromosome 11. Myself and Leo’s daddy were called in straight away to have our bloods taken for further genetic testing. The wait for those test results was excruciating and google was not our friend. Around five months later we received the news that Leo’s 11TH Chromosome was in keeping with mine and daddy’s and there was no issue.

Leo has been kept under the care of a neurologist and his specialist is happy with his progress though he is a little delayed. He attends an early intervention group once a week and has started nursery to help him improve in his development. Leo has attended physio appointments for an immature right arm as he lost the use of it for a little while and there were some concerns of his tip toe walking. He shows some signs of neurodivergence and this is something we will keep an eye on with the help of his nursery and early intervention.

Leonardo is the happiest child I know, he is always smiling and singing and in the past few months has learned so many new words. He is our little sunshine boy and we are so proud of him and how he has come through this stage of his life at such a young age. The 8th of August marks a whole year since Leo came off Vigabatrin and hasn’t had a relapse. It seemed so far away at one point that we would be here and he would be walking and talking and we are so grateful for that. We still don’t know the cause of Leo’s IS and we probably never will.

We found UKIST about six months after Leo’s diagnosis and we were so relieved to finally find a place we could ask all those questions running through our heads. To find a community that truly understood what we were going through as a family was so invaluable to us. I personally wanted to give something back to the charity and in May this year I ran Bradford Epilepsy Action 10k in Leo’s name raising just under £400. I was very happy to contribute to this wonderful charity and help it continue to support many families who have to go though this journey with their beautiful babies.