Meet Amelia Ng, a seventeen year old warrior princess living with a rare disease who continues to defy the odds and out-live doctors expectations.
Having a baby is one of the most life-affirming experiences we can have, but what happens when your child has a life-threatening disease? From noticing the first symptoms, the journey to a diagnosis, and the day-to-day care and support, Wendy Loh shares her daughter, Amelia’s story of living with INAD (Infantile Neuroaxonal Dystrophy). With only 150 children diagnosed worldwide, not only are Amelia and her family dealing with the symptoms of her disease, but they are also struggling to find treatments and support.
Despite the hardships they are living with, Amelia is a strong fighter, and her family are her biggest champions. Her determination and her mother’s instincts to help and protect her are truly inspiring. If there is anything we, as a society, can do to support them, we want to help. By sharing this story and contributing to the Rare Disorders Society Singapore (RDSS), we can build a brighter future for all children suffering from currently incurable diseases. This is Amelia’s story.
1. Thank you for spending time with us today, Wendy. Please share a little about yourself and your family.
“My name is Wendy Loh, and I am a 48-year-old mother of two daughters, Amanda and Amelia, who are 20 and 17 years old, respectively. Amelia is the first person in Singapore to be diagnosed with an extremely rare disorder, Infantile Neuroaxonal Dystrophy (INAD), which affects only 150 children worldwide. Sadly, there is no known cure or treatment for INAD, and all treatments aim to alleviate the symptoms of the disease, such as pain and discomfort.
As Amelia’s mother, it has been a challenging journey to see her suffer from this disease. Children with INAD typically have a life expectancy of only ten years. However, Amelia continues to defy the odds and fight against time to live another day.”
2. What were the first symptoms you noticed that led to you seeking a diagnosis?
“Amelia was a seemingly healthy baby at birth. She was able to crawl, turn, sit, and support herself to stand on her own. However, when Amelia was about eighteen months old, she could no longer sit up anymore. Everything she lost seemed to happen in a short blink of an eye. I could hardly find time to grieve the losses. When she was about four years old, she stopped crying for discomfort, and she could no longer make a single sound.”
3. How long did it take to get a diagnosis, and what was the testing process like?
“The road to an accurate diagnosis for rare disease patients is often a long and winding journey. Because the diseases are rare, there is little funding dedicated to researching a cure. Consequently, not much is known about them. For us, it took more than ten years before Amelia was diagnosed with INAD. Prior to her diagnosis, doctors were not able to identify her condition. They originally classified it as a degenerative mitochondrial disorder.
Since Amelia was a one-year-old, we have undergone a wide array of tests for many different types of genetic disorders, including Rett syndrome and Cornelia de Lange syndrome, as well as metabolic disorders, but they all came back negative.
I recall feeling really lost at that point, as we had done almost everything we could to search for an answer but to no avail. It took a lot of courage for us to undergo test after test. We lost a little bit of hope each time a test came back negative. But it was Amelia who inspired us to keep going because she deserves to know for certain what her condition is.
It was important for us to understand her condition and look out for potential interventions. It was also helpful to get the perspectives of others who might be suffering from similar symptoms. We continue to hold out hope for an accurate diagnosis, so there is a chance that there could be some intervention or cure.
Despite an estimated life expectancy of a decade, Amelia has never given up. She turns 17 years old this year! Her degenerating condition can be life-threatening, but we have learned to give thanks as a family on a daily basis. Her ability to wake up every morning and fight for every moment to breathe is a miracle.”
4. What are some of the difficulties you and your child face on a daily basis?
“Now that Amelia has turned 17 years old, INAD has stolen every ability from her, starting from when she was 18 months old. Over the last two years, what may seem simple for most people to do, such as the ability to open her eyes or swallow saliva, has become very challenging for her. She started drooling a lot more at 12 years old, and as of today, she needs to have secretions suctioned at least three times a day. She cannot sit in a wheelchair for longer than three hours because her muscles are weakening, and sitting up can be a great chore for her. We long for the days when we used to go to church, do activities, and go places as a family.
Many times, after sitting up for hours, she needs to rest in bed the next day, or else she will not be able to engage with us at all. Being too tired can sometimes trigger seizures. Feeding her five times a day is no longer a choice, and a frequent feeding regime makes her uncomfortable as she also has digestive difficulties.
When Amelia turned ten years old, she could no longer urinate and developed a neurogenic bladder. This means she requires our assistance to help her relieve her urine almost every four hours. Not only that, she is also on a high dosage of laxatives to help her clear her bowels. Besides attending to her medical needs, we also have to massage her regularly to ensure that she is comfortable and does not develop bedsores.
As a caregiver, I have to support her daily and be watchful around the clock. This also means that the family’s schedules are determined by Amelia’s needs. As a family, we sleep through the night with all the machines hooked up for Amelia to ensure that she can breathe with support. Amelia has lost her vocal ability, and it is challenging to communicate with her. Previously, we used an Eyegaze device named Tobii Dynavox, and we went to great lengths to obtain a second-hand device from the USA. Having an Assisted Communication Device for Amelia is challenging, and training her to use it is a long and tiring journey.
Tobii Dynavox tracks Amelia’s eye movements so that she can communicate with us in her own ways. However, we have seen that it is very difficult for her, partly because she has to rely on a ventilator to breathe 24/7; wearing a mask to support her breathing is, in part, a hindrance to her communication using her eyes.
Unfortunately, INAD has robbed every little bit left of her, including the ability to open her eyes.”
5. What do you need to help make your and your child’s life easier in terms of living with and caring for someone with a rare disease?
“By sharing Amelia’s story, we hope that more people can be understanding of the everyday reality of a rare disease patient and their caregivers. While we live with our unique set of challenges, we never give up hope and continue to embrace the moments we have together.
Sometimes, all we need is empathy and for others to listen to our stories, with the hope that it will be amplified and inspire others to be kinder. We also hope that others with a similar experience will know that there is support available and they do not have to go through it in despair and loneliness.
Our child may have a rare disease, but she is not defined by it. She is so much more than her diagnosis.
Ultimately, we wish that more efforts are dedicated to research into developing better genetic tests and finding a treatment for the many and unique rare diseases, including those that are yet to be uncovered. This is so other parents can quickly and accurately obtain a diagnosis and that there may be chances of earlier interventions to improve the well-being of their child, instead of constantly living in the unknown.”
6. What are you most proud of, and what are your hopes for Amelia’s future?
“Amelia is a living testament of hope and miracle. There have been instances when her condition took a turn for the worse, as she turned blue due to low oxygen levels. But she continues to fight on and surprise us every time she recovered. She inspires me to live life to the fullest, cherish every single moment and continue to create more memories with her as a family. As a family, we learnt to celebrate every small victory and cherish every moment.”
Even in the darkest moments, there is always a glimmer of hope.
“Our family is stronger because of the challenges we’ve faced. We’ve learned to lean on each other and find joy in the little things. Through all the challenges and uncertainties with Amelia, we have lived through precious lessons of resilience, strength, empathy, and the value of life.
We no longer ask why this happened to Amelia. We focus on the things we can control and make positive changes instead. Hope is a powerful force that has helped us overcome any obstacle.”
Please share the name of a helpful organisation/charity and share how we can offer support.
“Amelia is one of the beneficiaries of Rare Disorders Society Singapore (RDSS) when the organisation was first founded. Through fundraising efforts, RDSS provide us with financial support to access medical support and non-medical supplies, such as syringes for tube feeding and special milk formula.
As part of RDSS fundraising efforts, the organisation organises an annual Carry Hope fundraising campaign to raise awareness of the challenges faced by patients and their families living with a rare disease. By Carrying Hope, we are carrying the dreams of Amelia and many others like her to not be left behind by society and the healthcare system, so there is greater empathy and support to achieve a medical breakthrough. Find out more about Carry Hope and offer your support!”
Thank you to Wendy and her family for sharing Amelia’s story with us. Follow their journey on Instagram: @warriorprincess_amelia_. You can also visit the RDSS website and Instagram page @rdss_sg to learn more about how they continue to support rare disease patients in Singapore and how you can also play a part in supporting this meaningful cause.