Meet Sofia

In September 2022, we welcomed to the world, our beautiful little girl, Sofia – we were excited but understandably nervous, as my pregnancy hadn’t been smooth sailing. Throughout my pregnancy I had repeat episodes where Sofia would stop moving for long periods of time, causing us to visit the hospital on multiple occasions – each time we would be reassured that everything was fine, and this was just something that happens sometimes.

Despite this, we were always encouraged to attend each time it happened to err on the side of caution. Due to these issues, the decision was made that I would be induced early. Sofia was delivered via C-section and it was immediately noticeable that something wasn’t quite right – Sofia was very distressed and impossible to settle. She was extremely restless, but it was initially assumed this was due to the fact that we had both been through an intense situation, and that she would calm down after some time. This unfortunately did not happen, and Sofia became increasingly exhausted and irritable.

The nurses decided to take Sofia down to the NICU (Neonatal Intensive Care Unit) to be looked over, as there was no explanation for Sofia’s behavior. We initially believed this would be a short visit and she would return later that day to the maternity ward, but sadly this was not the case. Sofia went on to spend 9 weeks in NICU undergoing multiple tests and examinations to try and determine the cause of her symptoms.

During this time Sofia had minimal sleep and would spend her days constantly upset and restless. 6 weeks into our NICU stay we had reached multiple dead ends in the search for a diagnosis, and finally, after suspected colic, milk intolerance, and sepsis had all been ruled out, the decision was made to give Sofia a full-body MRI to ensure there was nothing that had been missed.

Later that week we received the heartbreaking news that Sofia had a brain tumor – like many others, we had never heard of a Hypothalamic Hamartoma before and felt completely out of our depths whilst trying to navigate Sofia’s new diagnosis. The doctors at our local hospital had also never encountered someone with this illness before, let alone a newborn baby.

 

Three weeks later Sofia was discharged with the plan of just waiting to see how she gets on. It wasn’t long before we found ourselves admitted back into the hospital with the same symptoms of exhaustion and irritability that she’d experienced from the day she was born. A few days into this stay we were introduced to an epilepsy nurse who confirmed what we had suspected – Sofia had been having seizures the whole time. Sofia was having gelastic seizures, meaning that they were very difficult to recognize and diagnose unless familiar with them. Sofia was then discharged and referred to a neurologist familiar with this condition. We found it very reassuring to finally have someone involved in Sofia’s care who understood what we were going through.

Dr. Gibbon admitted us to Cardiff Hospital so that she could monitor Sofia and create a treatment plan. Sofia stayed at Cardiff for two weeks whilst we attempted several different medications to try and get the seizures under control. When leaving Cardiff, Sofia had gone from having hours of constant seizures without any rest every day to 15-20 spread throughout the day and a full night’s sleep. Although we were extremely happy with the improvement the medication had made on Sofia’s life, we were aware that it was unlikely that medication alone would be effective for Sofia long-term. The decision was then made that Sofia would be put on the waiting list for surgery at Great Ormond Street Hospital. A year went by, and although Sofia’s seizures had still improved, she continued to struggle with delayed development and not meeting her milestones.

In November 2023, Sofia was finally offered the surgery we had all been waiting for. Although we had wanted this for a long time, when the time finally came, we felt extremely apprehensive and nervous. We were unsure if the surgery would make the difference, we were all hoping for. Sofia underwent laser ablation on the 9th of November and had no complications post-op.

We were amazed to find out that the surgeon (Dr. Tisdall) had managed to get 90% of her tumor after we had previously been warned that we would be lucky to get 50% due to its size. We stayed at Great Ormond Street Hospital for 3 days following the surgery whilst Sofia made a full recovery. The surgery had a huge impact on Sofia’s seizures, allowing her to have months with no seizures at all. Despite how scary this time in our lives was, we do not doubt that surgery was the best thing we did for Sofia. It has allowed her to have more freedom and experience much more normality than she ever had before.

Although her seizures still reappear sometimes, they are nowhere near as frequent or disturbing as they once were. She has gone from having 15-20 seizures each day to once every couple of weeks. Sofia is now 10 months post-surgery and is the happiest little girl you could meet. She’s exceeding all of our expectations and although she still has struggles with development, she has a team of professionals including physiotherapy and speech and language helping her along the way to ensure she continues to thrive. She has a big family who are all supporting her every step of the way.

We are excited to see all that Sofia will achieve in the future and can’t wait for the first time we will get to see her walk. We couldn’t be prouder of Sofia and although we know there will be many more bumps in the road ahead, the strength and courage Sofia has shown in the last two years gives us no doubt that we can all get through anything. She is truly inspiring.