A Mother’s insight of her child’s Batten disease diagnosis

Sad mum and son on beach

Batten disease is a rare, fatal neurodegenerative disorder that primarily affect children. Children with Batten disease are typically born healthy and develop normally, before they start to show disease symptoms. Affected children suffer progressive deterioration of brain and retinal cells, which result in a variety of severe symptoms and ultimately, premature death. Here, a local mum shares the heartbreaking story of her son’s diagnosis.

I’m reluctant to delve too far into what the last year has been like for our family as it’s still a very raw reality that we are living, but as a mother of a son with a rare and fatal neurodegenerative genetic disease that has no known cure, I feel compelled to share my story and help build awareness about Batten disease.

On 11 March 2019, my husband and I arrived at Westmead Children’s Hospital to receive the genetic test results we had been waiting 6 months for. Having been lead to believe the chances of our son having this disease was unlikely we were nervous, but optimistic.

Absolutely nothing can prepare you for receiving news your child has a terminal disease with no known cure.

That day will live with me for the rest of my life. As we sat in the consult room with a neurologist and genetic counsellor talking us through the symptoms and progression of the disease and what to expect, our lives were profoundly changed forever. All your aspirations, hopes and dreams for your child’s entire future taken away in one fleeting moment. We were told we should go on some family holidays and start making memories.

The months that followed were unbearable; grieving the death of your son while he stands perfectly happy and healthy right in front of you. Anxiety, despair, panic attacks, breaking down in the supermarket aisle and terrifying visions of what lies ahead for my son. I couldn’t face questions and conversations about “when I grow up…” or anything related to the future. I was struggling to function normally, always fighting back the tears while trying to put on a brave face for the children and everyone around us. Every beautiful, happy or funny family moment followed immediately by an overwhelming depression and sadness, like a devil sitting on my shoulder. Battens disease is the last thing on my mind as I try to go to sleep at night and the first thing on my mind when I wake in the morning.

A year on life is by no means easier, but time has allowed us to process and gradually try to come to terms with and understand the disease.

In just 18 months, our son has fully lost his sight. Every day presents its own challenges, the simplest of things we take for granted having sight are a constant reminder. Our son has been robbed of so many opportunities such as playing tennis or soccer or ever being able to drive and he experiences many mobility and navigation accidents and terrible frustration. We have learnt to predict and prevent some of the behavioural issues caused by the disease, but there are always episodes we don’t see coming and we feel helpless to manage, routines are crucial.

Batten Disease has completely consumed me and managing my son’s day to day schedule between school, therapists, specialist appointments, managing NDIS while also trying to maintain all the normal activities of having two young children has pushed me out of the workforce and become my new full time job. Our lives have been re-prioritised around what really matters most, certain things that once consumed us now seem insignificant. My emotions are heightened and I often find myself welling up in front of the evening news as I am now so much more empathetic of other people’s grief.

As we battle through the initial symptoms of the disease, a tremendous amount of supports have assisted us to cope and allowed us to help and provide for our son to the best of our ability. We are so fortunate to have been introduced to organisations such as the Batten Disease Support and Research Association Australia, the Royal Institute for Deaf and Blind Children, Vision Australia, Guide Dogs NSW, Save Sight Institute and all of our incredible therapists and specialist doctors.

We are most grateful to our son’s school who have been on this journey with us right from the start and are a formidable support, making provisions, guiding and assisting our son every day to be the best possible version of himself and a very determined, confident, social and happy little 6 year old boy.

We are forever conscious that there are much worse times and symptoms that lie ahead and for that reason we now cherish and are incredibly grateful for every moment of every day that we have with our children.

Symptoms of Batten disease

Children with Batten disease are typically born healthy and develop normally, before they start to show disease symptoms. The age of symptom onset, range of symptoms and the rate of disease progression differ between the various forms of Batten disease. Affected children suffer progressive deterioration of brain and retinal cells, which result in a variety of severe symptoms and ultimately, premature death.

The most typical symptoms of Batten disease over time are:

  • Visual impairment/blindness
  • Early language delay
  • Epilepsy (often with multiple seizure types, including generalised tonic-clonic, myoclonic, absence or focal seizures)
  • Cognitive decline leading to childhood dementia
  • Ataxia (including stumbling, falling, incoordination, slurred speech)
  • Behavioural changes
  • Sleep disturbance
  • Psychiatric symptoms
  • Extrapyramidal symptoms (spasms, restlessness, rigidity, tremors, jerky movements)
  • Progressive motor decline and loss of the ability to walk, talk and communicate

Bounce4Batten Day

This Thursday 9 June, please cherish a moment with your family, friends, pets or peers by Bouncing for Batten Disease and help build awareness.

  1. Take a photo of your bouncing moment
  2. Share it on social media with hashtags #Bounce4Batten #bdsraaustralia and
  3. Tag your post: @bdsra_australia for Instagram or @bdrsaaustralia for Facebook

For more information about Batten Disease or to make a donation towards vital research towards a cure, please visit the newly launched Batten Disease Support and Research Association Australia (BDSRA) website.


Other useful links:

Genetic Carrier Screening

Mental Health

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