“The love that Annabel gives is beyond that of most 13-year-old children, I cherish those moments, I hug her just that little bit tighter.”
James Yarrow is dad to Annabel, 13, who has CLN3 Batten disease. James talks about the diagnostic journey, waiting to tell friends of the diagnosis and the ups and downs of life with the condition. The family live in Hertfordshire.
I would like to tell you about a relative of mine.
She was referred to the doctor as she was losing her sight. After many visits she was diagnosed with Macular Dystrophy. It is quite common in older people. Unfortunately, her eyesight got progressively worse, much quicker than was expected and she was diagnosed with Stargardts disease. We were told that she was likely to lose all of her sight much quicker than we first thought. She was sent for more tests followed by a genetic test for Batten disease. This was something that we had never heard of before and searched the Internet for what it was.
The outlook was horrific, we felt so alone, but we were quite sure that she could not have this, after all it was just her sight that was failing. Otherwise she was fit and well.
Batten disease is confirmed
After a month we heard back, she did have Batten disease. Our world fell apart in that room, it is a feeling that I will never forget, one that I never want to feel again. How could it be true? They must have got it wrong. There is no cure.
We had learnt that not only would she lose all of her sight, she would also fairly quickly get epilepsy. The epilepsy would gradually get worse and eventually probably be difficult to control through medication. She would very soon suffer from dementia. The condition would slowly but surely strip away of all of what she could do. She would lose the ability to walk, to speak, to look after herself, to swallow. It is life limiting and she would die in the next 10 to 20 years.
It is a devastating story. It is now our life.
This story is not about my grandmother. It is not about my mother or my wife. It is about my daughter who was just 8 years old at the time. It was just over 5 years ago that we found out and it still hurts every day. Our life has changed forever. All of our plans for the future changed in that one moment.
Annabel was diagnosed with Juvenile Battens Disease CLN3. No words can describe how we felt, how we still feel, even years later. It is not fair for us, for our son, but primarily not fair for Annabel.
Finding support
We were given details of and reached out to the BDFA, a family association who help all families who have had a diagnosis like us. Their help and support was, and still is, invaluable. Their family support worker was sitting on our sofa within a couple of days of diagnosis helping us to come to terms with our new life’s journey. We could not have coped without their help. No-one should have to follow this journey alone.
We met other families at the annual conference around six months after diagnosis. It was enormously helpful to have contact and support from other families. Other people who were going through the same journey. Other people whose footsteps we were following. Other people who just understood how we were feeling and who just “got it”. Other people who could answer our many questions.
The BDFA have helped us with many things. Help fighting for DLA payments. Help with school. Help with professionals (most of whom have never heard of Batten Disease before and its complexities). Help for Caroline (my wife) and me. Dealing with the daily challenges, how to cope with the difficulties of the day to day issues from which our children are suffering. The ongoing daily fight to get what you deserve and should just be given without having to fight for everything. The importance of making memories now so we can talk about them when they will just not be possible to do in the future. Living for today and trying not to think about what the future will bring.
Having a child with this diagnosis can be and is overwhelming at times. Having someone to speak to is very important and has made a big difference to my emotional wellbeing. I went to some dark places in my head and am pleased that the help I got really made a big difference. To take some of the burden away and to deal with my feelings better.
Lockdown was particularly hard for anyone with special needs or their families. It was particularly isolating. A lifeline was our weekly zoom calls arranged by the BDFA with other families, it was a highlight of our week. Talking with many other parents who I would now call friends, many of whom I have still never met face to face. I cannot wait to eventually meet them at the next family conference.
Living with Batten disease
Life is at times beyond hard living with a child with Battens Disease. It continues to throw challenges your way. The love that Annabel gives is beyond that of most 13-year-old children, I cherish those moments, I hug her just that little bit tighter. The disease has also made her very difficult to deal with at times but I know it is not her, it is the disease. We have had and will continue to make some wonderful memories together, it just becomes ever more difficult to do that. Her body continues to grow older but her mind and body continue to deteriorate. Her ability to do things one day can take much more effort on the next. Some days are really good, some days are not. We laugh a lot but we also cry inside too. We do know, however, that we are not alone on this journey.
Sharing the news of the diagnosis
We deliberately took the decision not to be openly public about the diagnosis for 5 years to allow us time to come to terms with it and to protect our son as much as possible. He is nearly 15 and we told him when he was 13, albeit we had already told him quite a lot by that stage as it was obvious Annabel was not thriving in the same way as her peers. On the 5th anniversary of the diagnosis, 7 March 2022, we put a post on Facebook explaining our journey and launched a fundraiser for the BDFA which involved Annabel having 21 inches cut off her hair a few weeks later. Her smart new bob certainly makes things much easier in the mornings! We were overwhelmed with the love and support that we received and absolutely thrilled that Annabel raised £4,667 for the BDFA (plus gift aid). We donated the hair itself to the Little Princess Trust, something of which Annabel is (quite rightly) really proud. Annabel inspires, challenges and frustrates us in equal measure but we certainly wouldn’t be without her and we are so proud of both her and our son in dealing with everything life has thrown at them.
I would like to say a huge thank you for reading my journey with Battens so far. I hope that it will in some way help someone on the same journey as me. Thank you to all of the other parents who support us and each other. Thank you to the BDFA for all of your help. One day there will be a cure, hopefully that day will be very soon. Together we will make a difference.