Your Change for Hers

Hi, we are Tatyana and Evan and together we have two beautiful little girls: our four-year-old and her little sister Millie, who recently turned one.

When Millie was six months old, we noticed she wasn’t meeting milestones as she should be. After much testing, she was diagnosed with Angelman Syndrome, a rare genetic imprinting disorder that will profoundly affect her life in every aspect. It means Millie will struggle with intellectual disability, severe speech impairment, developmental delay, debilitating seizures, and problems with movement and balance. It means Millie will require lifelong care.

From the moment we found out about the diagnosis, it felt like we’d stopped breathing. The life we’d imagined for Millie and for our family was pulled from under our feet. We were told there would be no first words for Millie, no ballet performances, no camping trips with friends, no awkward dates. Instead, we were told that we would always have a young child who was dependent on her parents, and that we would always have to look after Millie as one would a toddler.

WHAT IS ANGELMAN SYNDROME?
Angelman Syndrome is a complex genetic disorder that affects the nervous system. The disease is caused by an absent or defective copy of their mother’s gene, which affects protein production.

HOW WE PLAN TO FIGHT IT
Millie is a loved and much-longed-for baby – so, as you can imagine, we are determined to fight for her future. We refuse to believe this is how it’s going to go for Millie, and we have a plan to get our lives back on track.

Thanks to the hard work and dedication of friends and family of kids (and adults) living with Angelman Syndrome, millions of dollars have been raised for research. And, thanks to a huge team of scientists and doctors from all over the world, Angelman Syndrome has been effectively cured in mice using a number of different approaches. Within 10 years, we believe treatment will be as easy as a trip to your doctor.

Currently, there are a number of human clinical trials taking place, and the data that has been shared publicly has blown our minds. Non-verbal kids have started talking and ambulatory kids have learnt to swim. We already know that Millie has a perfectly good – but silenced – paternal gene waiting to swing into action with a little help from Antisense Oligonucleotides (or ASO – it’s a manmade RNA or DNA strand). There are trials happening in Australia soon, but Millie does not qualify for these. To seek the help she needs, we need to relocate overseas. We believe that if we are able to get into a trial as soon as possible – while Millie is still very young – maybe her condition would become a thing of the past. We are confident that she will talk and walk, and probably even sing and dance.

Hearing Millie say ‘mama’ or ‘dadda’ continues to be our dream.

WHY WE THINK IT WILL WORK
A precedent has been set in the Spinal Muscular Atrophy field. An ASO called Spinraza was created for the degenerative condition and it completely transformed patients’ lives – but it cost $367,000 per year until it was made available at an affordable price through the Australian Government’s Pharmaceutical Benefits Scheme (PBS). A more permanent gene therapy now exists for the condition, but it is unaffordable for most. The one-time injection costs $2.2 million.

HOW YOU CAN HELP MILLIE
As you can imagine, during what is an incredibly stressful time, we need to raise money for accommodation, medical visas, flights, travel insurance, continuing with Millie's therapies while overseas (physiotherapy, occupational therapy, feeding therapy, speech therapy, hydrotherapy... ) and a whole list of things that just keeps growing. If, and when, we are accepted into a trial, access to the therapeutics is free. But when the treatment is finally for sale, we expect it to cost hundreds of thousands of dollars each year.

We are asking for your help to relocate overseas and to help us fund one year of ASO treatment for Millie, which is another way of saying we are effectively trying to raise $500,000.

We will rally with the Angelman Syndrome community for the drug to be made available at an affordable price through the PBS scheme when the time comes. We hope that this treatment is transformative and that it will be available to all those living with Angelman Syndrome.

We understand it’s a lot of money, but anything you can give would help enormously. So thank you – for listening, for reading, for sharing our page, and for donating to help Millie.

A special note: There is absolutely no way we would be here if it weren’t for those who have spent decades working towards a cure. Two organisations in Australia that help the community tremendously are the Foundation for Angelman Syndrome Therapeutics Australia (FAST Australia) and Angelman Syndrome Association Australian (ASAA). The support, care, time and kindness we have received from members of these foundations, as well as parents and caregivers of those living with Angelman Syndrome, has been humbling. Parents and professionals in the field living overseas have also gifted us with time and knowledge. We thank everyone who has helped so far and will donate a portion of funds raised to continued research and therapeutic efforts.