“Our story is filled with such sadness, but it has been compensated with love beyond what we knew was possible”

Sophie Pether, mother to 9 year old Isabel who has CLN2, describes the battles they have faced, and the ‘living grief’ of Batten disease.

My daughter Isabel has CLN2. She is nine years old and the eldest of our three children. She was a little girl who was once healthy. She loved to dance, run, laugh and play tea parties.

The road to diagnosis

Before her diagnosis she was experiencing some minor issues with speech and language and mobility. However, months before Isabel turned three she started to suffer from seizures. She would fall to the ground, go all floppy, turn blue and it scared the life out of us. We didn’t know what was happening to her and no one had an answer. People thought we were being paranoid that something was wrong.

Within four months, Isabel had undergone a series of tests including a lumbar puncture and an MRI scan. We were told with certainty that she had some brain damage and that it was probable that she would have some learning difficulties. We were relieved and reassured that we had an answer to help explain the issues she was facing.

However, a few weeks later I took a phone call from Isabel’s paediatrician who delivered the news that Isabel had Batten disease. I remember that phone call vividly. I remember writing down the symptoms one by one. I remember the doctor asking me not to search the disease online as I would find it upsetting and all I could think was what could be more upsetting than what you have just told me. My child is going to lose all her skills and die. She is going to suffer a fate I wouldn’t wish on my worst enemy and somehow, I’m supposed to just accept what you’re telling me.

A living grief

The journey from that point was stricken with a living grief that has torn through our lives. Isabel’s eldest brother was only six weeks old when she was diagnosed. There was a one in four chance that he too would have the disease and thankfully after a painful four week wait, we were told he was healthy.

I can’t begin to explain what it is like to watch your child rapidly lose their abilities one by one. It’s a unique and terrifying experience that haunts you every day.

I remember Isabel’s first words; her first steps and I equally remember her last.

By the age of six Isabel was completely reliant on us. At this stage she lost her sight. She became distressed and disoriented and she struggled to come to terms with the fact that she could no longer see us. She could not eat her favourite foods or dance to her favourite music, and now she couldn’t see us, her brothers, her favourite programmes. We have experienced a grief like no other. Isabel’s life is now stricken with pain and the never-ending issues with the simple task of breathing. She is confined for the most part to her bed.

Incomprehensible emotional impact

It always feels so odd to tell this story. Batten disease has become a ‘normal’ in our life. It has defined so much of our existence for the past six years. We have faced many huge battles throughout Isabel’s life, from navigating services across health, education and social care to managing the financial impact and then the obvious but completely incomprehensible emotional impact. The loss of friendships to those who couldn’t be bothered anymore or simply couldn’t or wouldn’t want to understand.

Often professionals have underestimated the disease and at times failed to understand the impact it would have. The services couldn’t keep up. At times friends, family and professionals wouldn’t even acknowledge that the losses were happening. They would try and minimize how catastrophic they were and we would fight to help them understand the disease, when we ourselves were struggling to come to terms with watching Isabel deteriorate.

Hundreds of battles

I remember the fight for a wheelchair ahead of Isabel’s loss of mobility. It happened so rapidly and not one person I spoke to could appreciate the urgency of needing something which we didn’t want but couldn’t do without. I found myself trying to convince people Batten disease was in fact a real disease and that we hadn’t imagined it.

I remember the fight to maintain Isabel’s access to school when the head teacher and governing body decided she should no longer be a part of the school community because it was just too much like hard work for them. Those battles and hundreds of others haunt me every day. They should never have happened and perhaps if people had been more willing to understand the disease then they wouldn’t have.

Strength and courage

We have always lived with the knowledge that we can’t change the outcome for Isabel. However, we have also always lived with the belief that we can, and will, ensure the disease is better understood. In doing so we do feel we found more people who have embraced us. They have listened and become better equipped to help us manage her needs and help us prepare for the inevitable fact that she will die in childhood.

Our story is one filled with such sadness because the disease has the power to destroy life and everything in its path. However, it has been compensated with love beyond what we knew was possible. The depth of our pain is equal to that of our joy. Our story has the power to change people’s perspective and life choices.

Isabel’s strength and courage has always amazed us. She has and will always inspire us.