“Laura’s journey with Batten disease taught me so many things: she inspired us and was a blessing to us all”
Ellen Bletsoe talks of the ‘voices of Batten disease’ as she tells the story of her daughter Laura, who died just months ago with CLN3, aged 20.
The voice of Batten disease
It may seem incomprehensible to you that I would say this, but Laura’s death came at the right time. We all knew it was time. Laura missed my birthday in early December. Then she missed Christmas. On both occasions, she was unconscious for days on end, following especially prolonged periods of epileptic activity and a year of gravely ill health. Our celebrations were few in the anguish of keeping our daughter alive. Laughter and carol singing were silenced that Christmas. Silence in suffering—this is the voice of Batten disease.
I have written this for all those who have experienced Batten disease, for those who are currently battling the disease, and for all of those who, sadly, do not yet know their own lives will take this course.
This voice is mine. It may be very similar to your own or totally different. Whether or not my account is familiar to you, I hope you will find some comfort in reading about my Batten journey.
In many ways, writing my story is not a task to relish. There are uncomfortable truths which are easier to hide away. The timing is perfect, though. In some ways, my Batten journey is complete. I am writing this to you from a desk in what used to be Laura’s bedroom. I stood hand in hand with our amazing daughter as she suffered the effects of this debilitating and cruel disease, as she weathered the cold isolation and widespread ignorance of it. The pressures were sometimes close to breaking us. Me more often than her, I am ashamed to admit.
During that last Christmas together, we finally opened our presents on29th December. We wheeled Laura’s bed into our living room so we could all enjoy time together unwrapping presents. She was just about conscious enough, smiling, and even managed a laugh when she unwrapped her dancing, singing, farting automated Santa.
A couple of months later Laura had an operation to fit a feeding tube. This surgery allowed her epilepsy medications to be administered in a more consistent manner. Her medical needs had become increasingly complex. Unfortunately, a whole bag of additional complications materialised in the months following her operation, including severe constipation, infections, and terrifying body dysmorphia. There were signs that Laura was losing the fight both physically and mentally. She was becoming increasingly withdrawn, her interactions were noticeably becoming less and less. Her smile more difficult to find.
They say that often when people look back, they have a rosier view of the past, having forgotten the bad but remembering the good. As I look back to 2005, I remember myself as a young mother with an ideal life. A devoted husband, two wonderful and healthy children, a large group of friends, and a beautiful home.
I would like to travel back in time so that I can grab that former version of myself and tell her to be happy, to enjoy all the good things in her life and to value every precious moment. I’m pretty sure that she did not do these things as she didn’t have the advantage of knowing what I now know.
Laura’s journey with Batten disease taught me so many things. One of the most valuable: never miss an opportunity to be happy. I am hungry for those opportunities, and when they come I seize hold and enjoy every bit. Laura taught me how. She had an amazing ability to break the tension of an awkward moment with one of her many hilarious facial expressions, Sometimes no words were needed for the laughter to begin.
Challenges and fortitude
So much of what we have had to face in our life with Batten disease has been difficult, even heart-breaking. I am talking about that in the literal sense – more on that some other time, when I’m ready to share that part of the journey. I’m still on this road, this uphill climb over so many obstacles and moments when I really didn’t think I could keep going. Truly desperate times.
But our darling girl never complained—not once—in all those years. I often marvelled at this. How did she manage it? Was it her fortitude and strong spirit? Was it somehow related to her declining brain function? Was it in some part because of the positive support she received from her family and various incredible care staff? I can’t write this without taking the opportunity to publicly thank Emma, Daisy and Kim. Without the care support from these three wonderful people, our family would almost certainly have been beaten by this dreadful disease.
We faced mental and physical challenges every day that most people shy away from. The average person doesn’t really want to know about blindness, memory loss, social isolation, incontinence, feeding tubes, terrifying psychosis—to list a few. These realities are uncomfortable. They force us accept that good health and happiness are not a given—they are gifts. Gifts too easily taken away. It is easier to stay away and remain ignorant of this fact, for those privileged enough to have the choice. Fortitude—this is also the voice of Batten disease.
Positivity and laughter
Those challenges were our everyday, our normal. We dealt with them as part of our daily routine. It sounds dreadful, and in many ways it was. However, those of us who have lived this way for long periods of time know there is another side to it. A side which tells the story of strong relationships, of intense love, of finding a wealth of fun in adversity.
Our relationships became stronger because we had to rely so heavily on one another. Not just for support, but for friendship, for entertainment, for companionship. Our love grew everyday as together we faced so many challenges. For my part, I am full to the brim with admiration for our darling girl. She remained determinedly positive throughout and showed extraordinary resilience.
Laughter is one of the greatest medicines. We knew that we needed to laugh often and laugh out loud and we did. We were hungry for happiness and we found it everywhere. Sometimes circumstances landed laughter right into our laps—like the day Kim’s glasses fell into the toilet at the worst possible moment! Other times we made our own fun by playing endless games, dancing, singing, making up funny stories and scenarios. Laura’s positivity made our jobs easy. She had such an easy, ready laugh and would burst into fits of giggles at the slightest provocation. Laughter—this is also the Voice of Batten.
A blessing to us all
I miss her terribly. Whatever remains of my life, I will never get to be with her again, and this is the hardest thing to think about. There are times when I feel the intense pain of loss. I feel as though my insides have be taken from me. I feel empty as though the shell of my body will crumble to the floor.
I would have given anything for Laura to have had a long, healthy life but that was never an option for us. Laura had Batten disease. It was part of the package she came with. Even with Batten disease, Laura was one of the greatest blessings of my life.
After fourteen years in her battle with Batten disease, our darling daughter passed away on 2 October 2019. Laura’s funeral was huge. In her short life, she managed to impact so many. People came because they had heard about her plight and wanted to offer support. People came because they had once known her. These people wanted to show that they had been holding her in their thoughts, even from afar. Many had been involved with fundraising for the Batten disease Family Association (BDFA) and wanted us to know that Laura’s life counts. Finally, those we were especially pleased to see were the people who were regularly and actively involved in Laura’s life. The brilliant care staff, family, and friends who spent time with Laura. Laura loved and she was loved by many. She inspired us and was a blessing to us all.
If you have been moved by my story and would like to show your support to those suffering from Batten disease and their families, please consider donating to the BDFA. You could also volunteer or reach out to those who are struggling with Batten disease. Above all, I hope my journey has inspired you to cherish the fragile things in life we take for granted—health, happy moments, the kindness of others, and the fleeting time with those we love.
Laura’s legacy for BDFA
One of Laura’s godparents, Lee Robinson had the foresight to invest funds in her name when she was very young. As Lee has over 25 years of experience working in the financial markets, he is extremely well placed to do this. Having enjoyed many years of success investing wisely on behalf of his clients, Lee knew that this was something he could do for his goddaughter.
The investment matured as Laura herself matured. Lee intended Laura to realise the funds on her 21st birthday. Under normal circumstances Lee’s foresight would have helped Laura with one of the larger purchases that inevitably come with adult life; like a car, a house down payment or a wedding. Because of Batten Disease, this didn’t happen. Laura was 20 years old when she passed away. She was not with us in April when the day that would have been her 21st birthday came and went.
As a family, we have been fortunate to get help from The Batten Disease Family Association throughout the 14 years that we were battling this dreadful disease. It was a BDFA information leaflet which we were handed the day my husband and I received Laura’s dreadful diagnosis. It was through the BDFA that we met other affected families and connected with experienced professionals who could advise us. When we had to fight for Laura’s social and educational provision the BDFA were there to offer informed support. We were never alone and so grateful for that.
We knew that Laura would want other affected families to have access to the same. In these uncertain times it is by no means a given to assume that the BDFA will always be there and able to offer the same level of service. With this in mind, we decided to donate Laura’s money to the BDFA in an unrestricted way. It seems that the timing of this donation could not have been better. “Like other rare disease charities, the BDFA is under unexpected pressure at the moment due to Covid-19,” Amanda Mortensen, CEO, told us. “We are incredibly grateful for this in memory donation which will go directly to funding our core support services through our two support workers.”
It gives us great comfort to think of the money donated as part of Laura’s legacy. Joining with all the other money Laura raised for the BDFA during her lifetime, as well as the generous donations made by those attending her funeral.
Thank you to you all for helping make Laura’s life count for so much.