If you’re a regular reader, you would have seen Peta Murchison and her beautiful children on The Grace Tales before. There are no words to describe how remarkable this woman is. She’s truly extraordinary and her strength and grace will move you. Her seven-year-old daughter Mia has Batten Disease, a rare neurodegenerative genetic condition that robs otherwise healthy children of their ability to walk, talk, eat, see and smile. There is still no known cure for Batten Disease, which affects about one in 100,000 children, and will eventually take their lives...
This Friday – March 31st – is National Batten Awareness Day and we need your help. This year with the support of Only About Children, Murchison’s initiative Bounce4Batten is attempting to break a Guinness World Record. “We are asking everyone to have some fun and jump up and down and support a cause very close to our hearts,” says Murchison. So get bouncing – you can bounce anywhere! – and post your photo to social media with the hashtags #bounce4batten #OnlyAboutChildren. Read on to hear more about what the last year has been like for this beautiful woman and her amazing little angel Mia.
Take us through the last year…
Last year I had the opportunity to speak at TEDx at the Sydney Opera House, which was a huge challenge. I never really fathomed the response my talk and Mia’s story would elicit from the audience or the follow up coverage in the SMH and Huffington Post. I was so preoccupied and nervous about the actual talk that my focus didn’t really go beyond the big event and just getting through the day.
The response was extremely humbling. At TEDx people hugged me and cried and I received hundreds of messages in the following days and weeks. It was lovely and I was on an absolute high! A couple of weeks later I completely crashed and needed to take some time to just recoup after such an intense focus and fall out. I’ve spoken at other events since including Only About Children’s Inspired brunch but I’m still relatively new to speaking in public having only done it a handful of times, so it’s something I’m interested in doing but need to learn to manage the energy and nerves I put into it beforehand so it doesn’t take such a toll. I’m not a natural at speaking off the cuff so it does take a great deal of preparation for me.
I’ve also taken on a volunteer role within the BDSRA, which is the Batten Disease’s national charity. The role has quite a broad scope – if you had all the time in the world….! So juggling that is a new challenge. I love it but I also know my priority is Mia and our family.
On the personal front, we had the highs and lows of discovering we were having another baby only to find out at the 8 week scan that there was no heartbeat. My pregnancies had all gone so smoothly to that point I just didn’t see it coming and really hit a wall emotionally.
Talk us through what the last year has been like for Mia?
Thankfully Mia was relatively well all last year. She seemed to plateau and stay relatively stable which has been a crucial reprieve for us. Having a year free of hospital admissions felt like some kind of inverse milestone and achievement. It dialled down the adrenalin and let us adjust to our new normal.
The last few months sadly we are noticing a more significant dip in Mia’s deterioration. She has had some episodes of acute pain that have been relatively short lived for only an hour or two but at the time it feels harrowing when you can’t help your own child. As it is a transition period and new symptom, it is more frightening and difficult to manage but we are putting in place the best treatment strategy with her medical team and will learn how to manage this new symptom as best we can. Mia’s little body struggles more to keep everything in balance so it’s a constant challenge to ensure she’s having regular bowel movements, she doesn’t retain her bladder, her secretions in her mouth can be swallowed effectively and she’s comfortable. Some of the medications she takes inhibit her ability to regulate her temperature and her circulation is poor so she is more susceptible to heat rashes and overheating in summer and then having freezing cold extremities and trying to keep her feet and hands warm in winter.
Mia needs to be in air-conditioning when it’s hot and can’t go in direct sunlight either so when the weather is more extreme we are having to spend more and more of our days at home or have a plan in place like having cool packs and wet towels and fans available.
Mia had a seizure very recently that caused some breathing issues briefly that completely floored us. She recovered completely and very quickly but it took its toll on Hamish and I. As Mia can’t move independently we have to be mindful to adjust her position regularly throughout the day and night. The majority of the time Mia is so content and, we believe, happy and pain free which is such a blessing.
Are there any moments/memories from the last year you’d like to share with us?
We enjoyed some lovely family holidays including an incredible week at Palm Beach with all my husband’s family. The house was huge and wonderful and the gorgeous woman who manages the property went out of her way to make us comfortable and fed us delicious meals all week including wood fired pizzas and a huge paella. The slippery slide into the pool was a highlight for all the kids big and small and we had some fun adventures on Pittwater, lovely walks, surfing, point swims, paddling and fishing. Mia enjoyed so many cuddles that week and lounging by the pool.
We took Mia and Toby skiing last July, Toby loves tearing around on the slopes we really wanted to see if we could possibly get Mia out for a few runs. Mia and I shared an afternoon enjoying blue sky’s and zooming down the slopes together. The guides that looked after her in the sitski were phenomenal and we all admitted to a few tears behind our goggles along with beaming smiles.
We also had a beautiful summer holiday in the Byron hinterland on a macadamia farm kindly lent to us by friends of friends for the week. And our favourite escape to my mum’s in Jervis Bay over Christmas time. Mia was so content and travelled so well this year. It was such a beautiful happy time with our families and catching up with old friends and we had some wonderful adventures all together including my husband getting us bogged in the 4WD and having to be rescued.
What’s a typical day like now for Mia/your family?
Mia’s sleep is fitful through the night. She usually wakes early between 4-6am and has her morning medication and a nappy change. She often falls back asleep as the rest of us are rousing for the day. A flurry of breakfast, lunches being made including Mia’s lunch time medication (Mia has medication 5 times through out the day), showers and general chaos finding uniforms and school shoes ensues. Toby will find some mischief like playing dress up with our forever patient Labrador Bon Bon or turning up the music so the neighbours can hear it or sneaking ice-cream from the freezer.
I give Mia her breakfast via her feeding tube, clean her face, teeth and do her hair and dress her. This takes about an hour. Fill in homework folders and readers, look for library books and try to remember the notes that are due back. Help Toby decide on something for news and try to think of something Mia can take in too that week although I’ve been a little slack with her news this term. If we have time we may grab a coffee and babycino before school but usually we are just racing to make the bell. I love being able to walk Mia and Toby to school.
I will generally have a couple of appointments or meeting or something on in-between the general day-to-day jobs of figuring out dinner and making sure we have some muesli and milk for the next day. School pick at three o’clock and then depending on the afternoon we may have a doctor’s appointment for Mia or swimming lesson or tap dancing or rugby training for Toby. Between Hamish, my mum and our lovely carer I can usually take Toby to his activities and leave Mia at home. She is exhausted after her full day of school and happy to be home relaxing.
On Thursdays, Mia skips school opting for horsing riding at Riding for Disabled and a massage at home afterwards. And Friday’s she has a day at home with me and her beautiful carer who gives her a big bath, braids her hair and paints her nails. We eat dinner super early all together and Mia has her night time medication and dinner around 6pm. We try to get Toby and Mia into bed by 7.30 for bedtime stories. Even though I have things to finish off I usually fall asleep with Mia. It’s not unusual for all the lights to be out in our house at 8.30pm!
How do you manage the nights?
Mia will wake a couple of times at least during the night needing to be readjusted or for some pain relief, water or food or a hug. I go to bed extremely early and coffee helps. I think I’ve just adjusted to being woken regularly and being able to get back to sleep quickly but I do love my sleep so if I’m struggling (usually when Hamish is travelling for work) my mum will come and stay and I can get a good night’s rest. I have a guided meditation app called Insight Timer that I use to fall back asleep and it helps incredibly during the night. I basically try not to dwell on being tired too much, and recoup when I can.
Can you talk us through Mia’s condition?
Batten Disease is a rare neurodegenerative genetic condition that robs otherwise healthy children of their ability to walk, talk, eat, see and smile. There is still no known cure for Batten Disease, which affects about one in 100,000 children, and will eventually take their lives. 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 20,000 genes in the body, identified in 1998 to be the CLN2 gene.
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 metabolized 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. In late infantile NCL the onset of symptoms is typically between ages 2 and 4 with an average age of diagnosis of 4 years. The disease progression is rapid. Children present initially with seizures and/or vision impairment, followed by ataxia (lack of co-ordination), myoclonus (involuntary muscle twitching), impaired speech, cognitive impairment, and developmental regression. During the later stages of the disease, feeding and tending to everyday needs become very difficult.
Late infantile NCL is inherited from the recessive gene of both parents. In Mia’s case both her parents (Hamish and myself) are carriers of the gene mutation CLN2. Carriers are physically entirely normal, because their normal 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.
Children with late infantile NCL are born healthy and develop normally for the first few years of life. Towards the end of the second year, developmental progress may start to slow down. Some children are slow to talk. The first definite sign of the disease is usually epilepsy. Children tend to become unsteady on their feet with frequent falls and gradually skills such as walking, playing and speech are lost. Children become less able, and increasingly dependent. By 4-5 years the children usually have myoclonic jerks of their limbs and head nods. They may have difficulties sleeping and become distressed around this time, often for no obvious reason. Vision is gradually lost. By the age of 6 years, most will be completely dependent on families and carers for all of their daily needs. They may need a feeding tube and their arms and legs may become stiff. Some children get frequent chest infections. Sadly children with Batten disease usually die between the ages of 8 and 12 years (but occasionally later).
Because pediatric neurodegenerative diseases are so rare, children are sometimes misdiagnosed. Parents often have other children before they realise their child in fact has Batten disease. Since the disease is genetic, this means that some families have more than one child with Batten. Thankfully our son Toby is healthy.
Tell us about the Bounce4Batten initiative. How has it changed your life?
Our family launched Bounce4Batten in 2014 shortly after Mia was diagnosed with Batten disease. The inspiration was for friends and family to spread awareness by bouncing and posting photos on social media. To think how far it’s come in just four years is incredible. We have been so grateful for the support given to us by The Grace Tales over the past few years and the beautiful community of readers that have contributed to our success in raising awareness.
The joyfulness of bouncing really resonates especially for young families like ours. The reaction has been overwhelming with friends and friends of friends and strangers from around Australia and as far afield as London, New York, Sweden, Singapore, Dublin, Japan and Paris bouncing and posting photos.
We do hope the part we play with raising awareness for Batten disease will mean more research and funding to help find a cure. Our wish is that one day in the near future there will be a treatment for Batten disease and no family will have to experience what we go through with our beautiful daughter Mia. Awareness and research into this rare disease is imperative to find a cure.
The bouncing photos have been described as portraits of joy and each and every bouncing photo brings a smile to my face, we hope people get a kick out of being involved too. It’s not only about awareness but a reminder to have fun and spread some joy! Bounce4Batten gives our life more meaning and a legacy of hope. With so much sorrow and grief in our days it is really helpful to have something that is uplifting and connects us with people.
What’s your advice to other mothers’ who have children who are rare diseases?
Immerse yourself in your community and surround yourself with people who will lift you up. Make sure you have support so you don’t collapse, take up the offers from your family and friends or organise a paid carer or cleaner if you can afford it. It’s so important to look after yourself. Even though Batten Disease does overwhelm our lives I try not to let it completely define us either, there’s so many other facets to our life which is so important to remember.
What makes you smile most in life?
I always have a beaming smile after being in the surf. I love swimming and surfing and it always brings a big grin to my face. As does watching my children together, especially when Toby gives Mia a big hug or lies down with her. Mia’s friends often make me smile, running to her when she arrives at school and all the friendly little voices in the playground saying “hello Mia” when I collect her in the afternoons.
What makes you laugh most in life?
Hamish has a wicked sense of humour and Toby is now trying to compete with his dad. So we have a double act in our house. They both love making people laugh which I think is awesome talent to possess. Although I’m not sure I should be bragging about having the class clown!
What are you most grateful for in life?
I’m grateful for my health and my ability to run and jump and swim and of course my beautiful family. Mia reminds me everyday how precious life is and how important are our friends and family.
How do you and your husband support each other?
He has developed a keener appreciation of wine and I spend way too much time on social media … just joking. I think we have been very lucky that our heartbreak has brought us closer together, as I imagine the stress of our situation could easily do the opposite. Luckily we seem to understand that each of us is doing the best we can. At times life does feel overwhelming but when we step back and accept it is no one’s fault and there isn’t blame flying around it makes everything easier. Over time we have come to respect how differently we each deal with our grief. I really value Hamish’s perspective and insight and I am lucky to have married such an emotionally intuitive and sensitive person. I love that I see a much deeper side to him that not many or any people would even know about.
How do you explain Mia’s condition to your son Toby?
My husband and I are very open about Mia’s illness. We talk about what happens when people die and what dying means with Toby to ensure he understands (as best he can) we don’t want it to be a taboo topic. Death is a very confronting subject and every family is different but it has been a natural progression with Toby. Toby was only 18 months old when Mia was diagnosed so it has been part of his life for as long as he can remember and we’ve always answered his questions honestly. We have had some wonderful support from our palliative care team including some useful books “When Dinosaurs Die, A guide to understanding Death” by Laurie Kransy Brown and Marc Brown. “What Does Dead Mean?” By Caroline Joy and Jenni Thomas and “Life is like the Wind” By Shona Innes and Irisz Agocs.
Children sometimes ask us if Mia will die and we try to answer with a simple yes sadly she will and it’s OK to talk about it if they want. I have found children are incredibly insightful and I appreciate the fresh perspective they give us about something with so many complexities. We don’t know when it will happen for anyone but it is inevitable and sadly we say goodbye to some people too young. It is very hard but hopefully it helps us prepare Toby for what will be the most painful moment for us, we want to make sure it is as peaceful, loving and painless as possible for Mia and our family.
And finally, how can we get involved in Bounce4Batten this year? How can we support this wonderful cause?
It’s as easy as bouncing and posting a picture on social media.
1. TAKE A PHOTO of someone bouncing – with BOTH feet off the ground
2. SHARE on social media with #Bounce4Batten #OnlyAboutChildren and ask your friends, family and followers to do the same
3. Submit your pictures at www.bounce4batten.com to help set a Guinness World Record
This year with the wonderful support of Only About Children we are attempting to break a Guinness World Record. Only About Children are hosting bouncing events on Friday 31st March at their 38 childcare and preschool campuses across Melbourne and Sydney. We need more than 50,000 photos of people jumping in the air to win a world record so we are asking everyone to have some fun jump up and down and support a cause very close to our hearts.