Lola was born at home on May 31st weighing 7lb 4oz. She arrived in the world a tiny little bundle with a thick head of black hair. She was our second daughter and younger sister to Daisy, who was 2 ½ years old at the time. My pregnancy and birth was all perfectly straightforward and she was a lovely chilled baby. My husband Adam and I felt like the luckiest people in the world to have two lovely healthy girls.

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However, within the first week Lolli started to encounter some difficulties. It started with constipation, which is uncommon in newborn breastfed babies. Then she struggled to regain her birth weight and was really slow at feeding. I remember this horrible anxious feeling in the bottom of my stomach that something wasn’t right. As a paediatric nurse, I knew she didn’t quite feel right, but at the same time there wasn’t anything alarming. At her six-week check-up the GP noted her poor head control, floppy tone and lack of eye contact and smiles. We went back to the GP a few times and she eventually referred Lolli to a paediatrician, as there was no improvement with these developmental milestones.

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Whilst waiting for this appointment, at exactly three months old, I noticed her going blue round the lips, she felt even more floppy than usual and was unusually sleepy. I rushed her to A&E, where she had another episode in front of one of the nurses. She was admitted to hospital for observation, however didn’t have any more of these episodes, but had lots of tests (bloods, EEG and MRI), which all came back normal. They told us it was probably silent reflux and started her on treatment for this. We were sent home and told there was nothing to worry about, maybe her development was a little behind, that was all.

 

At home, we noticed that she started having these rapid blinking episodes. Now I was really worried. I knew this was by no means normal. I spoke to the doctors on the ward, which was also the ward I worked on as a senior staff nurse. I was told not to worry about this, maybe it was just her eyes trying to focus. I called up an old colleague, who happened to be an epilepsy nurse specialist. She was also very worried by what I told her. She put us in touch with a neurologist and we booked the first available private appointment for a few weeks’ time. 

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Lolli continued to have more episodes of blinking and going blue round the lips, and it felt like she would actually stop breathing for a moment. But every trip to hospital resulted in normal test results, and her ‘episodes’ were unwitnessed by the consultants on duty. They still insisted it was reflux.

 

At the appointment with the neurologist we were told there were no ‘red flags’ with Lolli, and advised we get her reflux medication maximised. Driving home from this appointment we should have felt relieved, however, having seen these blue episodes so many times, we just felt sick with worry. Instead of going home we thought we should immediately take her to A&E as we couldn’t ignore these episodes. We drove to our local hospital and just as we were about to take a seat in the waiting area, she had a prolonged blue episode. The consultant grabbed her out of my arms and tried to get her to come round. She was bagged to help her start breathing again and after what seemed like a lifetime her colour started to come back.

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She was admitted to hospital, this time for two weeks. We sat there watching her having these episodes on and off, whilst on a monitor we could see her oxygen saturations were going down to 20% each time. Eventually, a doctor saw her hand jerking during one of these blue episodes. They decided this was likely going to be some kind of seizure and we started her first AED (anti-epileptic drug).

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These seizures very quickly escalated and came in different forms, the most common being the muscle ‘twitches’ that could last up to 10 seconds. These would then escalate into tonic-clonic seizures lasting up to 20 minutes and required emergency medication (Buccal Midazolam) to help break the cycle. She also had absence seizures, where she would zone out, and then return as if nothing ever happened. Think of it like pressing the reboot button on your computer.

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The first 8 months of Lola's life were sadly spent in and out of hospital ​doing tests (such as EEGs, MRIs, ECGs) and trialling different AEDs to combat her 80+ seizures a day. Her development was very delayed and Lola would really struggle to interact with the world around her. She did experience some break periods from her seizures, notably when she was sick with a fever, and even had a four week break from seizures completely after she had her measles, mumps and rubella (MMR) vaccine at seven months old. 

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Unfortunately the AEDs that we tried (Keppra, Epilim, Zonisamide, Topiramate) had little effect in reducing the seizures. Buccal Midazolam was the only medication that helped stop them, albeit for a few hours. Morning periods were always the worst for the seizure clusters and thankfully Lola never had them at night. She was constantly picking up viral infections and temperatures, which would make her seizures spiral out of control.

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We managed to get Lola admitted to the ketogenic diet via a clinical trial at St George’s Hospital. Within three days we thought our prayers had been answered. We saw a dramatic reduction in the number of seizures that Lola was experiencing, averaging about 10-15 seizures a day after eight weeks and it was the longest time we’d spent out of hospital since she was three months old. Sadly the effects gradually wore off and we stopped the diet after 18 months. 

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When Lola was 3 1/2 years old she was going through a particularly bad spell with her seizures. She was admitted to hospital and had another EEG, where they established that she was demonstrating a constant spike in seizure activity on her brain. They decided that a course of steroids may help to settle things down so she started a four-week treatment. From the very first dose we noticed a magical effect on Lola's seizures - they stopped entirely. Amazingly this lasted for four weeks and we were at the point where we were going to decide to wean her off the steroids and see what her response would be. Devastatingly, we never had to make that decision as Lola passed away peacefully in her sleep on April 1st 2021.

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Sometime during the night she slipped off peacefully to be with the angels. Our hearts are broken but her big sister Daisy says she is now running and skipping with the angels in heaven, her head doesn’t hurt anymore, forever seizure-free. We were told that it was highly unlikely that she died from a seizure or from the course of steroids, sometimes your heart just stops and there's no explanation. 

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It was only after Lola passed that she was diagnosed with CRELD1. You can read about our struggles with getting the diagnosis in our blog. The geneticists simply didn't believe us that it was CRELD1 due to the lack of medical literature. 

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Despite her frequent struggles, we saw Lolli develop her own little unique personality. She couldn’t talk or walk, yet she found her own way to get around. She knew exactly what she wanted and how to get it. She loved being cuddled and walked around while being held, she liked walks in her pushchair and bath time was her favourite time of the day. She loved going to bed at night swaddled up tight in her favourite blanket. We took her places we never thought we would get to take her.

 

It was an extremely tough life and we were always treading on egg shells, but she still had a life that was worth living and she taught us what the important things in life are. We find great comfort in knowing that the last few weeks of her life were seizure-free, and she was at home surrounded by everyone who loved her.

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