Angelman syndrome: “My daughter’s rare disease could be cured abroad”

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Tatyana’s daughter, Millie, has Angelman Syndrome. The family discovered real hope for treatment, even a cure, but it came at a cost.

I’m sitting in my car and my 15-month-old daughter, Millie, dozes on her back after her first DMI therapy session at the NAPA Centre, Lane Cove on Sydney’s North Shore.

We’ll be back later today for physio and speech therapy, and again tomorrow, and the day after tomorrow too. It’s expensive; fortunately, we have funding from the NDIS to support this.

Until recently, I had no idea what NDIS stood for (it stands for National Disability Insurance Scheme). When I first heard of NAPA, I thought of beautiful Napa Valley – but in this context, it’s about neurological and physical fitness. And DMI stands for Dynamic Movement Intervention; another new term to add to my vocabulary.

Here, a therapist with a soothing voice and sunny LA accent rocks Millie in various positions five times in a row. Millie squints throughout the process. Later in the car, me too.

This time last year, my husband Evan and I were living the dream. We had been looking forward to family life for a long time, and although it took some effort, we felt Christmas had come early when our second daughter was born.

We were finally an awesome foursome – dad, mom, Ari (who, like many kids her age, is called Elsa) and Millie. We imagined the girls going to dance lessons together, playing soccer ball, painting each other’s faces and nails, and singing Frozen duets together.

But then Millie was diagnosed with Angelman Syndrome, and our world fell apart.

Angelman syndrome is a rare neurogenetic disorder with an estimated incidence rate of one in 15,000.

The difficulties are vast and overwhelming, and I still struggle to comprehend the gravity of it all.

People living with Angelman syndrome suffer from a profound intellectual disability. They never reach the cognition of a toddler, and even something like using the toilet is not accomplished by many.

Most people with Angelman Syndrome are nonverbal, meaning they are unable to verbally express their basic needs, such as pain, hunger, and fear. When I learned this, I realized that Frozen duets weren’t going to happen, and that even hearing Millie call me ‘Mama’ was going to be highly unlikely.

For weeks after his diagnosis, I spent every night digging into whatever literature I could find online.

One evening, I had to stop. I had read that nonverbal children were four times more likely to be bullied than their counterparts, and the idea that Millie and other nonverbal children couldn’t yell “stop” or “no” was just too much to bear.

Angelman Syndrome also comes with a whole host of other problems. Movement and balance problems prevent many from walking, and life-threatening seizures are exactly what they sound like: deadly.

Evan and I spent some time after the diagnosis in a bubble, avoiding contact with family and friends and hoping that maybe someone was wrong. We dove deeper into the research and soon discovered that Angelman Syndrome was cured in mouse models in different ways.

Healed.

Then we learned that there were ongoing human clinical trials overseas. A number of pharmaceutical companies have already worked on how to activate UBE3A on the paternal allele, while other companies are working on different gene therapy solutions.

By activating the paternal UBE3A, it is possible that Millie will experience near-complete recovery.

One company has already released preliminary data that shows one non-verbal child is starting to talk and another is learning to swim laps in a pool. These children are older than Millie, so we can only imagine how transformative the drug could be if taken in the first two years of life.

We now think it’s likely that Millie will talk and walk, and even sing, dance, and kick a soccer ball. She might even learn a second language, or study astronomy, or invent something. We want to give him every chance we can.

But she can’t change the world without help.

We’re trying to raise a huge amount of money to first move overseas so we can access the trials and pay for the therapies Millie needs while we’re there, then we can buy the medicine when it will be on the market.

Participation in clinical trials is free, but after that, we expect the price of this life-changing drug to cost between $350,000 and $400,000 every year.

We are trying to raise enough money to be able to buy the drug for a year while we campaign to make it available and affordable for everyone living with Angelman syndrome in Australia.

It sounds crazy – it is – but there is an Australian case study that gives us hope and inspires us to take on this challenge.

A similar treatment that was created for spinal muscular atrophy (SMA) and transformed patients’ lives, but was sold for $367,000 a year until it was made available at an affordable price through the Australian Government’s Pharmaceutical Benefits Scheme (PBS).

We are trying to raise enough money to be able to buy the drug for a year while we campaign to make it available and affordable for everyone living with Angelman syndrome in Australia.

If you are able to help Millie, our fundraising page can be found here. For us, every dollar counts and we thank you from the bottom of our hearts.

If you would like to donate towards further research efforts, please visit the FAST Australia page to find out more and donate here.

February 15 was International Angelman Syndrome Day – a designated day observed each year to raise awareness, encourage action and celebrate our loved ones living with the disease.

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