Why my five-year-old daughter is my inspiration as we fight to understand her sister’s epilepsy

Since writing this blog, we have received the incredibly sad news that Lola Clatworthy has passed away. With the consent of her family, we have left this blog online and added this note. Our thoughts are with dad Adam, mum Jess, sister Daisy and new baby brother, Alfie. The family has asked for any donations to be made to Sebastian’s Action Trust, a cause close to their hearts that provides vital support for families of seriously ill children. 

March 26 is #Purpleday, an international awareness day that aims to get people talking about epilepsy and raise awareness of the condition. Congenica welcomes guest blogger Adam Clatworthy to tell his story about epilepsy.

Adam manages communications for German software firm SAP and lives in Hampshire with his wife Jess and children 5-year-old Daisy, and Lola who is 2. Lola was diagnosed with epilepsy when she was just a few months old.    

“Try to be a rainbow in someone's cloud.”  

Civil rights activist Maya Angelou was the source of many inspirational quotes throughout her life and her words above have never resonated with me as much as they do today.  

Let me explain why. 

One of the ways in which our five-year-old daughter Daisy likes to wake us up each morning is with words that sing to the tune of, “Lollipop is awake! She’s smiling at me!”  

As soon as she gets out of bed, Daisy will go and check if her little sister Lola – affectionally nicknamed Lollipop - is awake. Some nights she can’t even bear to be apart from her and will sleep in her bedroom if she’s poorly.  

I’m sure many other parents reading this can relate to the unique bond that blossoms between siblings who are dealing with a rare condition. And this bond is something that inspires me every day.  

Daisy is the rainbow in our cloud. 

Daisy doesn’t see any disability with her sister, quite the opposite in fact. In Daisy’s eyes, Lola is a never-ending source of joy. She's a constant reminder for us to view things through another lens and take heart in the fact that when you believe in something, there is always hope. 

Lola has been battling with her epilepsy from the age of just three months. Words cannot express the pain and trauma that my wife Jess and I have experienced over the last two-and-a-half years, as we’ve watched her little brain struggling to cope with hundreds of seizures a day.  

These episodes come in many forms, the most common being the multiple ‘twitches’ of the eyes, mouth and limbs. But these can quickly escalate into more aggressive tonic-clonic seizures that require emergency medication to help break the cycle. She also has absences, where she will zone out for a few minutes and then return as if nothing has happened. Think of it like pressing the restart button on your computer. 

These seizures have had a devastating effect on Lola’s development and quality of life. As you would expect from a child that has been battling relentless seizures from just three months, Lola has developmental delay and her mobility is very limited.  

Whereas most families can think back on their child’s first few years with joy and happiness, ours will sadly be summed up by countless hospital admissions, explorative tests, clinical trials, genome sequencing, physiotherapy and lots of medication. Add to this the fact that our barometer for Lola’s wellbeing is largely based on the number of seizures she’s having. Often, we would just lose count. 

But I’m not going to live by these distressing numbers. If I did, there’s no way I’d be able to find the strength to get out of bed each morning. I have chosen to take the mindset of my daughter Daisy to help me tackle each day. We continue to have hope that one day we will understand the underlying condition that is causing Lola’s seizures and developmental delay.  

To date, Lola has failed six different epilepsy drugs, as well as a clinical trial for the ketogenic diet. There have been a few rare occasions where we would think that one of the treatments was helping, but this hope was soon misplaced when things would rapidly spiral out of control again. All tests and trials have been inconclusive, and our hopes of a diagnosis continue to fade as the months go by.   

We have now moved Lola’s care to another hospital in London, and it finally feels like we have started to take some steps in the right direction. Lola’s latest electroencephalogram provided some clarity around her brain activity, in that it showed a constant discharge on the brain. She has now started a short-term course of steroids. Lola’s initial response is showing some promise, so there is cautious optimism that we may be able to give her a better quality of life. We’re also waiting for further genome sequencing in the hope that they can find something that leads to a possible diagnosis.  

Lola’s genetic interrogation to date includes a normal CGH array followed by an Angelman's study and an expanded epilepsy gene panel, which was all negative. 

We unfortunately found that Lola’s previous mitochondrial DNA study had gone astray, so the test was then completed in the NHS highly specialized service for rare mitochondrial disorders in Newcastle. It was confirmed that no likely pathogenic mitochondrial DNA variant was found in Lola’s blood. Thus, extensive genetic testing has not revealed the cause for Lola’s problems, however it is suspected that there is likely to be an as yet hidden genetic origin and whole-genome sequencing is the only likely means to determine this. Lola has now been entered into the 100,000 Genomes Project, so the hope is that we’ll be able to find a diagnosis and get clarity on the treatments that will be able to improve her quality of life.   

We currently have no idea what tomorrow holds. Lola’s future is as unclear as it is limited, yet I am grateful that she is a fighter and has somehow survived all the trauma her misfiring brain has endured. And I am forever thankful that I have my wife Jess, a pediatric nurse and astonishing mother, by my side. We often say that Lola came to us for a reason, and that is because Jess has been an absolute rock and our superhero. She has fought for every little hope and opportunity to get Lola the help she needs.  

This is why I believe that we are starting to see some green shoots of progress. We are seeing glimpses of the little things that a normal baby does; the little smiles, the kicking of her legs and reaching of the arms as she learns about her body, and she seems to be getting a little stronger. It finally feels like we might be helping her, rather than ploughing her with drugs that bring more side-effects than signs of progress.  

These are the things that I choose to focus on. Very early on I decided that I’m not going to count Lola’s seizures. Instead, I count how many times she smiles, sings or tries to roll over. I’m convinced that this number will soon surpass the number of seizures she has each day. 

I like these numbers more. 

I continue to dream that Lola will outgrow her epilepsy, as many children do. That one day the seizures will stop for good. In the meantime, I’m going to continue to do what I can to help my family cope, one day at a time, and make sure we give Lola as many happy memories as possible. Just like the special moments that she has with Daisy every day. 

Daisy continues to be my daily inspiration and she absolutely adores her little sister. She doesn’t focus on the sad numbers, so why should we?

Congenica response  

It is estimated that over 50 million people around the world suffer from epilepsy, yet 1-in-3 patients are non-responsive to existing treatments. 

Sanford Health and genomic data company Congenica are working to drive forward genomic insights to develop precision targeted therapies that will address these challenges. 

In a webinar taking place on Monday March 29, 2021 at 11.am EDT / 4pm BST / 5pm CEST, Christina Waters, PhD, SVP Genomics Insights & Solutions at Congenica and David A Pearce PhD, President of Innovation, Research, & World Clinic at Sanford Health will discuss the applications of genomics to the research and treatment of pediatric epilepsy. They will talk in detail about how this innovative approach is de-risking clinical research and development to provide answers that change lives for the better. 

 To find out more and register for this special event, please visit Clinical Decision Support Events | Congenica