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A story of heartbreak and hope: Juju’s journey with CLN2 Batten disease

When Cristina Rosa’s son Julius (Juju) was diagnosed with CLN2 Batten disease, her world crumbled, but with time she and her family learned that they could re-write their life story. Juju has taught them to find the positives in every situation and to hope and strive for positive outcomes

By Cristina Rosa

The beginning of an unsettling journey

Have you ever opened a blank book and discovered that there was no written content inside? Consider opening a book and finding nothing but emptiness, with no words scribbled across the page. There is no sense of what is supposed to be written in the book. You start to feel perplexed, unsure of what’s going on. This is how I felt when the reality of my son Julius’s situation became clear to me.

Our book’s words and content had been written in clear, easy-to-understand text, but this began to fade away when Juju was three and a half  years old. In 2019, I was working as a social security court reporter when I received a phone call telling me that my son had experienced a seizure while at day care. This is when the pages of my book began to blur. I didn’t know how to react; everything felt as if it were collapsing around me.

I had no idea why my son had a seizure; he had no prior health issues aside from a speech delay. We rushed to the hospital in search of answers, and I was told it was a febrile seizure and that I had nothing to be concerned about. Unfortunately, that was not the case; Juju began to suffer from seizures on a regular basis, and we seemed to visit the emergency room far too frequently.

The old book, which used to define our lives as simple, was no longer available. We had to overcome numerous obstacles in order to move forward. Juju was subjected to a slew of tests, none of which revealed anything other than epilepsy. I was satisfied with that diagnosis and thought I could live with the idea of my son having occasional seizures. I used to think, well, it could be worse. Life, however, had different plans for me.

Genetic testing leads to a diagnosis of CLN2 disease

Juju was diagnosed with CLN2 Batten disease in May 2021, after a year of waiting for genetic testing—a unnecessarily long wait that created enormous amounts of stress. CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an extremely rare neurodegenerative lysosomal storage disease caused by a tripeptidyl peptidase 1 enzyme deficiency (TPP1). CLN2 disease has an impact on motor skills, such as sitting and walking, as well as speech development. This condition also results in the loss of previously acquired skills (developmental regression), progressive intellectual disability and behavioural issues.

Juju’s ability to walk without assistance was lost during his initial diagnosis, and he began to gradually regress and lose some basic skills. It was a daily struggle to watch my son struggle with this terrible disease. I’d cry myself to sleep at night, hoping for a different reaction.

A story of heartbreak and hope: Juju’s journey with CLN2 Batten disease

Juju is a wonderful child. He has a huge personality, as well as a smile and laugh that can light up an entire stadium. and there is optimism for his future. Even when things are difficult on the outside, we still experience internal joy despite our trials and tribulations. Our family will never lose faith and will always strive for the best. My son is a warrior, and he never ceases to amaze me. We never limit ourselves to the possibilities of what we are capable of. Humans are strong and resilient; we can accomplish anything we set our minds to.

As each day passes, life carries on. I start to feel more grateful for things, and I start to feel hopeful. It may appear difficult to comprehend how a person can feel such hope in my circumstances. Well, you see, life had a habit of showing me how quickly the words in my book could vanish. Things could change in an instant; I was used to things changing unexpectedly in my life. Where others see sadness, I see joy. I see things in a way that makes me feel complete on the inside. We are valiant warriors.

Juju has been receiving infusions for 11 months and has made significant progress; this is not a cure, but it does provide him with synthetic TPP1 enzyme to supplement the small amount of TPP1 enzyme he is capable of producing on his own. 

The journey continues

Juju’s new mutation has no prior data on how it relates to his disease. So, at this point, I am a dedicated researcher on my son’s gene variant. I’ve learned that no two diseases are alike, and that each gene/variant is what distinguishes us all. My son has had several seizures and has spent numerous nights in hospitals, but what utterly amazes me about Juju is that he can now walk with assistance, eat his food on his own and is a social butterfly with a bright smile! He is a very active young man who offers me a completely new perspective on life. I’ll never be unhappy in life if he’s happy. 

In the early stages of my son’s diagnosis. It was heartbreaking to see Juju progress from running to walking to using a wheelchair. That didn’t stop me from believing in myself and continuing on our journey together. This is our fight, and we are fighters! When I was a kid, I never imagined my child would have to go through something like this. But I have learned that life has many lessons for everyone to learn. Some people may wonder about their fate and believe it is a curse. I like to look at any situation, good or bad, and see what positive outcomes can be derived from it. I am a firm believer in the law of cause and effect. Positive change is brought about through positive actions.

Juju has taught me that no matter what life throws at you, you should always keep a smile on your face. Time only gives us a distorted picture of what happens during the course of a day. Enjoy the moment and be aware of the energy that surrounds you. This is what keeps my family and me going on our journey. We live in the moment and enjoy every second of it, and we fight for a cause in which we truly believe. I believe in miracles and in healing.

I find hope in looking into my son’s eyes; I am his voice, and I represent him in everything I do. I feel privileged to be a part of the rare disease community. My son is nothing less than a miracle, so I’ve gradually realised why the text in my book to life faded away: it was time for my family and me to open a new book and embark on a new adventure, a new beginning. A fresh start for a brighter future. The pages no longer feel empty as we thank God for another day. 

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