My baby girl was hitting all her milestones – then, on her first birthday, a vanishingly rare disease took everything from her. A cure will cost millions, but we’ll never stop fighting

When doctors told us our baby girl Tallulah Moon only had months to live, my husband Chris refused to wash her clothes. He didn’t want to lose her smell.

The initial diagnosis was that she had a rare disease called leukodystrophy, which causes the white matter in the brain to deteriorate. Doctors said Tallulah Moon’s was much thinner than it should have been, and nothing could be done.

Chris and I were devastated, but as we sobbed together we refused to accept our beautiful daughter would be gone so soon. In our desperation, we sought out other parents on Facebook with children in a similar situation. They recommended we start a genome sequencing process, to be 100 per cent sure we had the correct diagnosis.

We had every gene in her body mapped, and at 14 months old, Tallulah was officially diagnosed with Hereditary Spastic Paraplegia Type 56 (SPG56) – an incurable brain disease so rare no one else in Australia has it.

When doctors sat us down and told us she didn’t have leukodystrophy, I breathed a sigh of relief. I knew they were wrong.

They couldn’t tell us much about SPG56, except that there was no cure. But the fact it wasn’t leukodystrophy was a revelation to me – it meant there was hope and we had more time. That was the start of our mission to cure SPG56 with gene therapy.

So began a hellish ordeal that would see our family abandon our idyllic rainforest life in Central America in a desperate bid to save her life.

But let me take you back to where it all began, so you can understand how we got here, and why we’ll never stop trying to find a cure for Tallulah Moon – and every other infant struggling with the same degenerative motor neuron disease.

We welcomed Tallulah into the world in Darwin, and she was a happy, healthy baby. 

Chris and I decided to travel while I was on maternity leave after our kids had their first immunisations, so we packed our bags, bound for Nicaragua, just before Covid hit.

Our new home was filled with breathtaking rainforests teeming with monkeys and exotic wildlife. We would walk along the beach, go snorkelling with dolphins, and see iguanas crawling in the backyard.

We had our perfect little family. Parenting a toddler and a newborn overseas was tough at times, but we got through it.

My son Finn was enjoying watersports and Tallulah was learning how to walk. She loved nothing more than dancing and chasing her big brother in the backyard.

But after Tallulah’s first birthday I noticed something seemed off about her.  

She wasn’t jumping up in her cot, standing up or crawling anymore and her furniture walking stopped. It happened over three weeks, but Chris and I assumed she had a cold, or was run-down.

‘Why is she not moving?’ we wondered.

She was visibly distressed, so we took her to a doctor who said everything seemed fine. But I knew in my gut something was seriously wrong. 

Then her shoulders weren’t able to hold her up and her arms stopped working. She couldn’t even crawl anymore. She cried a lot. She was terrified, and so were we. 

We called a doctor in Australia who said we needed to get an MRI to check for tumours, but before we could do that things got even worse. Soon she she couldn’t sit up or roll over, and in a matter of days it became an avalanche of skill loss.

So we went to get tests and an MRI, and while we were relieved to find she didn’t have a tumour, we were left with no answers as to why she was deteriorating so rapidly.

At that point, she had also lost her voice and all her muscles were limp, so we made the decision to fly back to Australia, but borders were shutting because of the pandemic and commercial flights were at a standstill.

Luckily for us, a dad we had befriended at kindergarten was the manager at a small airport that was reserved for rich and famous visitors who played golf nearby. 

He saw how desperately we wanted to get home to the Australia, and told us he could arrange a pilot to fly us out to Costa Rica then on to Brisbane, if we gave him our passports.

It seemed like a risk but we knew his family and were desperate to leave, so we gave him our passports to stamp, and two days later there was a pilot with a small plane waiting to fly us out.

We left on a small charter aircraft and flew over the rainforest bound for Costa Rica, and were then backdoored on a commercial flight with American Airlines bound for the States, where we caught another flight to Australia.

When we touched down, we told the police we had to call an ambulance but were deemed a Covid risk and put in isolation first.

Chris and Finn remained in the hotel on the 15th floor while Tallulah and I were driven to the hospital. We were exhausted.

We saw about 30 different specialists who tested her in hazmat suits. It was intense for her to see and they scared her.

Tallulah was only tiny and she’d gone from living an idyllic lifestyle with beautiful animals all around her to this cold and sterile medical space.

During the four months of genetic sequencing that followed the misdiagnosis there were days where we wouldn’t get out of bed, or would take turns crying in the bedroom alone while the other one looked after the kids.

At one point, Finn was playing with Tallulah and he said to me, ‘Mum, she’s not learning, what’s wrong with her?’

I didn’t know what to say or do, so I replied, ‘She’s trying her hardest, honey,’ but I really struggled to cope with that. Still, Finn and his beautiful spirit helped us get through the low point. He kept us alive with joy.

When the genome sequencing was finally complete, the doctors sat us down on a Zoom call and told us Tallulah had inherited a faulty gene from both my husband and I. We were carriers without knowing.

Without a cure, we took matters into our own hands and started researching. I spent hours at night searching for anyone who had been diagnosed. 

I found a Facebook group dedicated to SPG56 and soon learned there were gene therapies in clinical trials all over the world – one of which was an FDA- and TGA-approved medicine in Australia.

With SPG56, a particular gene is ‘broken’ and causes the degeneration of the neurons. The clinical trials aim to fix, heal or replace the damaged gene.

After considering dozen other medications on the market, we decided this was the best path going forward. 

We found researchers at the University of Queensland through the Australian Institute for Bioengineering and Nanotechnology (AIBN) who run gene therapy trials using mini organoids – tiny micro-organs. 

Using a drop of blood, mini three-dimensional organs the size of a lentil can be made and researchers can safety-test the functions or malfunctions of the mini organoids.

After three years, we are at the point now where we have a ‘clinical entity’ – a gene therapy that’s ready to be made for a human dose. But because it’s a new drug for children, there are multiple regulations – as there should be. 

The research will cost $5million of our own money, so in October we made the difficult decision to sell our family home in Australia to achieve our mission of finding a cure. We’re so close. 

I was heartbroken because it was our home, the place we raised our babies in. Our four-bedroom property sold for just over $1million and after clearing out the debt from our mortgage we were left with $500,000 to put towards the project.

The reality is there’s no medication to save our daughter’s life. There’s nothing to make her feel better besides pain relief.

We founded the registered charity Genetic Cures for Kids, and launched its first campaign ‘Our Moon’s Mission’ in the hope of finding a cure for SPG56 for Tallulah and children like her. 

Now Tallulah is wheelchair-bound, with severely limited speech, and is getting ready to start school next year.

As a mum, I worry for her every day. How will she get in and out of her chair? Will she make any friends? How will she cope on the first day? 

While I celebrate all of her amazing traits, I still worry for her being able to make friends and I fear she’ll be misunderstood. 

But as a family we try make life as normal as possible for her and she’s a very patient little girl who knows her body is different. She loves art, storytelling and dancing.

Her muscles tighten and her hands curl up sometimes so it’s important to keep her moving. 

She has a busy schedule with multiple therapies per week, including physiotherapy, speech therapy, aqua therapy and occupational therapy, to combat the disease progression. Luckily, she enjoys the therapy – she has such an incredible spirit.

While she still faces challenges and has experienced some setbacks, we remain optimistic about her potential for happiness and the success of our medical mission to stop the disease in its tracks. 

• As told to Carina Stathis