Our journey with Batten disease started 9 years ago when after months of trying to fathom why our daughter Isabel who was 3 at the time was struggling with a whole host of minor issues with speech and language, coordination, and eventual seizures, we finally had an answer to our questions.  

But of course, it wasn’t the answer we were hoping for, nor were we capable of imagining something as horrific as Batten disease existed.

In an instance, we were told that our beautiful little girl who was full of life was going to die from a disease we’d never heard of.  Isabel was diagnosed with Late Infantile Batten disease (CLN2).  I look back now and feel naive that I’d never heard of a disease so rare and cruel.  I’m a primary school teacher and the 15 years prior to having Isabel I’d come across hundreds of children.  At the time, I kept thinking how can it be that I’ve never been exposed to this disease or others like it and how can it be that my child is the one who has to die from something so cruel?  

Isabel’s diagnosis came shortly after the birth of our second child, it threw my husband, and I into a state of shock filled with anger, sadness and pain.  Even now, 9 years on I can vividly remember the feelings, which were all encompassing at that time.  Life was forever divided into the before and the after. 

Over the coming months we felt hopeless, lost and at mostly helpless.  There was absolutely nothing that was going to stop this monster of a disease.  By the time we had almost got our heads around what was going to happen, we realised it was already happening. Isabel was beginning to loose skills that she had mastered. Words were being lost, her mobility was rapidly declining, her seizures were increasing and we were watching just how quickly the disease was able to take hold.   People around us stood back in denial as we faced each regression head on side by side with Isabel who showed such courage and strength.

So much has happened in the years since Isabel’s diagnosis.   In the early days we thrust ourselves into fundraising and memory making trips to Disney.  We moved home, I gave up my job and we took on major building work to accommodate the inevitable time when Isabel would no longer be able to climb the stairs or as it turns out leave the confines of her bed.  We went through rounds of genetic testing to grow our family and ensure that Batten disease didn’t strike twice.  Isabel has 3 siblings who shine brightly and often help us navigate the darkest days.

Each stage of decline has had its challenges and we’ve had to fight the battles for the basic services, equipment and care to provide Isabel with all that we can to make her short life the best it can be.  We have set high expectations of ourselves and those around us and we are proud of what we have achieved.  My husband and I have spent years advocating for other people’s children and feel privileged to have been able to give our own child the best of ourselves.

Most recently, I found myself speaking at Westminster and appearing on ITV news to raise awareness around the issue of energy consumption for children with palliative care needs.

For the most part and I mean this with such profound sincerity, our life has been filled with such an incredible amount of joy and love.  Isabel has and will continue to inspire us.  So much of who I am today is owed to her.  She has taught me so many lessons and I have learned to be thankful for many things that will carry me through the rest of my life.  

Here are just a few things to mention:

I’ve learned that I’m incredibly resilient and brave, although never quite as much as Isabel.   

Isabel’s siblings are incredible.  They have had to learn what truly matters most so early on in their lives and sometimes we worry immensely about them. They are learning to thrive in the face of such adversity and I wholeheartedly believe that they will become compassionate and caring adults.  It takes time and effort to ensure they are well supported but I advocate for them as best I can.  I am fiercely committed to ensuring they thrive in spite of what they have been through.

We have a plaque in our home which reads “If anyone asks then we are a nice normal family”.  My husband and I are reminded almost daily that we live a life which feels far from normal, but then again what is normal?! 

I’m thankful every day to share this journey with my husband.  People are quick to tell us how remarkable we are and how they couldn’t cope with all that we contend with.  It is hard to hear.  We share this belief that what’s happened has happened and we often use the phrases “it is what it is” and “we weren’t given a choice”.  We don’t agree on everything, like how to stack the dishwasher but we do agree on the big stuff and that truly matters. 

 I’ve learned that grief has been a huge part of our journey from the start. I’ve learned to grow around it and to live in the here and now, whilst carrying the weight of my ever-changing grief with me.   I’ve learned to live with the fact that people from the outside looking in cannot always fathom why I am grieving when my child isn’t dead.

Batten disease will take Isabel from us and sadly, that time is fast approaching. Remarkably, we celebrated her 12th birthday in December 2022.  I never imagined she would still be with us all these years later and I’ve learned to focus on the here and now more so than ever.  Her health is fragile and most weeks we find ourselves fearing that she will die. I fear that time as much as I fear having to live the rest of my life without her.

The best and most amazing thing I have learned is that LOVE is an incredible thing that enables me to function in a world that has sometimes seemed so uninviting. Batten disease is ugly and cruel but one of the only things it can’t destroy is the love that I have for Isabel. Love wins and no matter what I will carry that love for her always.