Can you tell us about Bounce4Batten Day?
Bounce4Batten started in our backyard as a party with friends and a bouncing castle. We did it to acknowledge and celebrate the national awareness day for Batten disease on the 31st March. That was three years ago, shortly after Mia had been diagnosed, she could still bounce a little herself. It was a happy day with friends and family and gave everyone a positive way to show their support, which meant so much to us. If it plays a part in educating people about a disease that most people had never heard of, then perfect! Each year Bounce4Batten day since then has gathered momentum with something simple, joyful and positive. Bouncing and sharing online with the hashtag #bounce4batten spreads awareness about a rare genetic fatal condition. It’s also a way to have fun and feel good about playing a small part in letting your network know about this disease and how it affects families. People have responded amazingly to Bounce4Batten and seem so positive about it. It has also created an online community of support and friends and people we don’t know have generously set up fundraising initiatives and nominated the National Charity Batten Disease Support and Research Association as their chosen charity raising valuable dollars to go towards research for a cure.
What do you want people to know about Batten Disease?
Batten disease is rare so it needs awareness and we believe a cure is within reach. We hope by generating awareness that will in turn help funding for a cure. We also believe that with developments in genetic medicine that screening prenatally will be an option for future parents one day. Batten disease is currently not screened for during pregnancy so there was no way of ever foreseeing that Mia could be affected. We were just unlucky. That could change for future generations. The type of Batten Disease Mia has is called CLN2. There are some initial very positive results from a trial being conducted overseas. In that trial children are required to have infusions into the brain every two weeks. The results are looking hopeful. Sadly Mia was too far progressed to be eligible for the trial, but we did consider moving to Hamburg to be involved at one stage. While this news is amazing it is also bittersweet that we are on the cusp of these potential treatments.
Can you tell us about Mia’s condition?
Mia has been diagnosed with late infantile NCL (neuronal ceroid lipofuscinosis), which is one form of a condition generically described as Batten disease. The disease is caused by a genetic mutation in one of the thousands of genes in the body, identified in 1998 to be the CLN2 gene. There are currently nine children affected with late infantile Batten (CLN2) and 33 people in total with Batten disease in Australia. Late infantile NCL is inherited from the recessive gene of both parents. In Mia’s case both Hamish and I are carriers of the gene mutation CLN2. Carriers are physically entirely normal, because their healthy copy of the gene overrides the potentially harmful effect of the recessive copy with the mistake, but carriers have the potential of passing this faulty gene on to their offspring as a purely random event similar to inheriting a recessive gene like blue eyes.
This rare genetic disease causes a deficiency of an enzyme called tripeptidyl peptidase 1 or TPP1. In the absence of TPP1, lipids (fats) that are normally metabolised by this enzyme accumulate in many organs. Buildup of these materials in the cells of the brain and nervous system impair cellular function and cause progressive neurodegeneration and loss of cognitive, motor, and visual functions. Children with Batten are born healthy and develop normally for the first few years of life. In late infantile the onset of symptoms is typically between ages two and four with an average age of diagnosis of four years. At two years old, Mia could sing, scoot and swim but between her second and third year she struggled with more complex sentence structure and stumbled over some words. Mia started having seizures just after her third birthday and was diagnosed two months before her fourth birthday. The disease then progresses rapidly. Children typically present with seizures and vision impairment, followed by ataxia (lack of co-ordination), myoclonus (involuntary muscle twitching), impaired speech, cognitive impairment, and developmental regression.
Can you tell us about the decision to send Mia to you local school?
Hamish and I have been determined to give Mia the happiest, most fulfilling and enjoyable life possible. For us, this meant allowing Mia to experience life in a mainstream school. She had been attending a small special needs school part time and after her first year, her two best friends moved onto a private school for children with disabilities and her amazing support teacher left. Mia wasn’t eligible for the private school and at this time we were concerned her needs weren’t being met. Mia missed interacting with other children her age and craved more physical and social stimulation. Being a very small school it was also isolating for us and we felt a bit removed from our local community. Finally we met with our local primary school and honestly it felt like coming home. The colourful, bright classrooms. The singing, the happy buzz, the vibrancy and squealing children. In my mind there was no doubt that Mia deserved to be a part of that more than anyone. We can roll down the hill with no more lugging the wheel chair in and out of our van. Mia has neighbours, cousins and friends who go there. It feels good. Toby started kindergarten this year too, so logistically it makes perfect sense.
Being included in our local school community has offered up support and connection that we need. It has brought a warmer dimension to our lives with new friendships that will last and sustain us beyond Mia’s lifetime. A friend’s grandfather kindly helps us in our garden and a sweet older student and avid reader Bonnie comes and reads magical stories to Mia on Tuesday afternoons.
Kindness, empathy and acceptance are beautiful qualities to foster in our children. Kids hold her hand, prop her head back up on her headrest when it falls off and stand by her side watching out for her. A little girl wouldn’t leave her side recently at a party, she wanted to push Mia’s chair and be with her every moment. She was content standing next to Mia enjoying just being with her. An older student smiles at me everyday when I passed her in the playground, she acknowledges Mia warmly. Surrounded by a little gaggle of friends one day she proudly tells me her sister uses a wheel chair too. I was told by a six year old’s mother one afternoon that “Mia is the best thing that’s ever happened to our daughter”. These moments matter to us.
“ Kindness, empathy and acceptance are beautiful qualities to foster in our children. Kids hold her hand, prop her head back up on her head rest when it falls off and stand by her side watching out for her ”
What’s been the most positive part of sending Mia to the local school?
The friends we’ve all made in such a relatively short space of time and the warmth and enthusiasm with which the kids have embraced Mia. The first few weeks I was in the classroom with Mia settling in and my heart would burst watching how excited, and naturally caring and inclusive these sweet six year olds were. Mia was made to feel like a super star, she received welcome notes and cards in the shape of hearts and stars (I’ve saved them all). Kids brought in items especially for her like a sensory book to read to her at break times, a pencil case with a bunny on it, a name plate for her wheel chair, stickers and cards. We also received hand me down uniforms and birthday invitations and a beautiful bell for Mia with her name engraved. This treasured gift hung on our Christmas tree and now on the door to Mia’s bedroom. Her friends tell me how much they love her and how they want her on their table, one sweet boy told me he was going to miss Mia “terribly” on the days she doesn’t attend school. Kids smile and say hello on our walk to school in the morning. It feels good that Mia is recognised, loved and supported in our local community.
How would you define happiness?
Having a purpose in life beyond yourself and giving and receiving unconditional love.
How do you stay strong?
I don’t. Breaking down is part of the process. I have my meltdowns and days of feeling really sad. I call my mum and she usually comes to help me pick up the pieces and keep the cogs turning in the house while I catch up. A good psychologist is a godsend too. Sleep and saltwater are my go-to on a bad day, if I can squeeze them in!
How would you describe Mia?
Mia is a tough cookie. She has an incredibly high pain threshold and rarely complains and is exceptionally resilient, patient and calm. She has a serene beauty and grace that Hamish and I admire with everything she endures. She is very determined in her own way and has a very cheeky streak. She also has a unique way of connecting with people even though she can’t talk. She loves music, animals, cuddles, holding hands and long warm baths. She is the most patient person I know and a wonderful listener, especially to her mother’s long boring stories.
What makes Mia laugh?
Mia thinks her dad is hilarious and he manages to elicit the most smiles. She also laughs at Toby but usually at him (not with him) when he’s having a meltdown. This upsets him even more and makes him scream louder and that makes Mia laugh even harder. And we all end up erupting because she’s being a typical older sister and having the last laugh! Mia’s seems to connect with special people who share her cheeky sense of humour. She loves movement and being bounced up and down on our lap still. A tickle will sometimes help her break into that beautiful smile, but sadly they are getting harder to predict and fewer and farther between.
Peta’s little list of loves:
Salt water. I love that feeling of diving under a wave and feeling everything wash away.
Being in my garden digging in dirt, checking on my worm farm, potting up plants, watering them and the joy of a new green leaf unfurling or a bud opening.
Quiet weekends together with no commitments… pulling a table cloth out, picking some flowers and enjoying Sunday lunch on our deck as a little family.
Occasionally I make it to a wonderful gentle restorative yoga class, the teacher sings while we stretch and I relax so much I often fall asleep.
Walking Mia and Toby down the road to school. Once we’ve wrangled the school shoes on and have finally made it out the door, I do love the ritual of being able to walk with them, say good morning to people and be a part of our local community.
Last but not least, Mia falling asleep on my chest and seeing her at peace.