Mila’s parents described the ‘earth-shattering’ moment when they were told that their daughter had a life expectancy of just five to 10 years due to a rare nervous system disease
A toddler is one of just 150 people in the world diagnosed with an ultra-rare genetic disease with no current treatment or cure.
Mila, aged two, was born at 8:10am on October 14 2022, following a pregnancy that her parents, Stephanie, 29, and Andrew Taylor, 32, described as “really easy”. However, when she was eight months old, the couple noticed that their daughter wasn’t crawling.
A GP insisted that everything was ok but they knew something was wrong with Mila – their second child – and so the parents persisted with multiple visits to specialists to try and find some answers. Last month, following multiple tests that included an MRI, blood test, and genetic test, the youngster was diagnosed with Infantile Neuroaxonal Dystrophy (INAD) – a pediatric neurological disease that affects the nervous system.
Currently, there are no treatment options for Mila and doctors told Stephanie and Andrew that her prognosis is five to 10 years. The family is desperately speaking with medical experts around the world to find a cure for this debilitating disease.
Stephanie, a primary school teacher from Melbourne, Australia, said: “When we got the news, it was earth-shattering – I knew something was wrong, but I could never have expected this. In the appointment, I asked if there was hope, and the doctor said, ‘prepare for the worst, but always hope for the best.’
“They are not words you ever want to hear as a parent. Mila has been given a life expectancy of five to 10 years. Our biggest concern is we want to delay the progression of the disease as much as possible.”
Mila weighed 7lbs 7oz at birth and Stephanie said there were no warning signs during her pregnancy – everything went as planned. But once Mila turned eight-months-old, Stephanie and Andrew raised the fact that Mila wasn’t crawling with their GP.
“Mila was sent for a hip scan, and everything came back fine,” Stephanie said. “At the age of one, we realised that she wasn’t saying any words, and she wasn’t standing up. We got in touch with a paediatrician, they said they thought it was global developmental delay,” she added.
At 18-months-old, Mila wasn’t talking and still wasn’t standing up so the parents booked an appointment with a physiotherapist, who said that Mila had extreme tightness in her legs. But Stephanie wasn’t satisfied with the response and so took her to her childhood podiatrist.
They recommended an MRI scan but the results came back clear. Stephanie said: “At the same time, they said it might be worth doing some genetic testing as we were planning on growing our family. They swabbed Mila’s mouth, as well as mine and Andrew’s. They looked at the gene sequence, and if it appeared Mila was carrying something, they would look at us.”
On February 1 this year, Stephanie and Andrew received the results from the genetic testing, which showed that Mila had INAD. Stephanie described the moment: “Nobody expected this, Andrew broke down into tears, and I was in shock.
“The geneticist said it wasn’t a nice diagnosis, my first question was what her life expectancy was, then I asked what we can do, and she said there is nothing out there at the moment. We had to go home and tell our family; our minds went to everything. Our oldest is four, she can see how we are all upset, but she doesn’t understand what is going on.”
Andrew, a business development executive added: “It has been difficult. Personally, it took me a week to go through all the emotions and switch to action mode. It has been really draining and difficult for everyone. We quickly realised that it would be a 24/7 thing, constantly talking to medical professionals around the world. It is mentally exhausting, but we are doing what we need to do.”
Currently, there is no treatment or cure for Mila in Australia, so the family are in touch with medical experts around the globe, pleading for help. They since have launched a GoFundMe page that will go toward supporting research into the disease and assisting Mila with any potential medical expense. At the time of writing more than $107,000 (£52,380) has been raised.
Stephanie said: “At the moment, any trials or treatment are all overseas – there is nothing in Australia. The money will go toward treatment overseas; if a particular course needs funding, we will donate to them if that makes a difference.
“It is not just our child; there are children with this disease impacting families around the world. This is real.” Andrew added: “Anyone who thinks they would be able to help Mila, we are open to support and help from anyone.”
Click here to donate to Mila’s fund.