'We are fighting with time': S'pore mum who got diagnosis for daughter's rare condition after 12 years

'We want to embrace more moments with her.'

Mothership | December 30, 2021, 03:52 PM

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PERSPECTIVE: "Sometimes we wish that with every diagnosis, you can see some light at the end of the tunnel. But for Amelia's condition, there's really no light.”

In December 2020, we published the story of Amanda and Amelia Ng, two sisters who share a deep love for one another. When she was around two years old, Amelia began to lose many of her abilities, including standing, sitting, speaking, eating, blinking, urinating, and even breathing. Despite many tests, doctors were unable to identify what her condition was, classifying it generally as a degenerative mitochondrial disorder.

One year since our first interview, a lot has changed for the Ng family. In September 2021, the family finally got the answer they had been unable to find for so many years: the disorder causing Amelia’s condition is Infantile Neuroaxonal Dystrophy (INAD).

INAD is an extremely rare inherited neurodegenerative disorder. Wendy Loh, the sisters' mother, told us that there are only around 150 children currently living with INAD. There is no cure or treatment for INAD, and the estimated life expectancy of children with the disorder is 10 years. Amelia turned 15 in October this year.

Wendy shared with us what it was like to get a diagnosis for Amelia after so many years, and what it means for their family moving forward.

By Wendy Loh, as told to Jane Zhang

Amelia was actually born normal. In fact, by about four weeks, she was actually lifting up her head by herself.

She actually hit her milestones much earlier than Amanda, and I always thought, “Oh, this second baby's gonna be brighter, bigger, stronger, and she might hit her milestones earlier than her elder sister.”

When she was around four months old, she started to sit on her own. And she was able to turn much earlier as well.

Amelia (left) and Amanda (right), around ages two and seven, respectively. Photo via Instagram / @_amanda_jewell_.

Then when she was about 10 months old, I noticed she started tip-toeing, and her feet would be in an awkward position when she was supporting herself to stand. That's when I thought that she would need to see an occupational therapist or a physiotherapist to get adjusted, to get some help for her.

When she was about one year old, we saw a neurologist. The only thing that they could think about was Rett syndrome because Rett syndrome is something that is more commonly found in children in the Singapore context, and especially in girls.

So we actually listened to the geneticist and did several tests. After we did the Rett syndrome test, it was negative. And then we tested her for Cornelia de Lange syndrome (CdLS) — that was the elementary test for kids with any genetic condition. And it all came back to me negative.

And then — I don't really remember why — but we went from KKH back to NUH, and at NUH we ended up with one of the doctors who actually took a whole battery of blood tests to rule out metabolism disorders. And they all came back to be negative as well.

By then, I was really very lost, because we had done almost everything.

When Amelia was around five, we participated in a research programme. When she was eight years old, the results came back: mitochondrial disease, a debilitating and potentially fatal disease that reduces the ability of the mitochondria to produce energy, causing cells to die until eventually whole organ systems fail and the patient's life itself is compromised.

This diagnosis seemed accurate at first, because many kids with rare genetic conditions do have regressions of their conditions that are relatively similar to kids with mitochondrial disease.

However, this turned out not to be Amelia's actual condition.

It was really painful because by then, she had totally lost whatever she had achieved when she was a baby, when she was able to lift her head, she could crawl, she could turn, she could sit, she could cruise, and she was even able to support herself to stand on her own.

Everything she lost as an infant was so much more than I could describe in a whole list of what she has lost.

What made you decide to undergo the diagnostic test again?

I think why we wanted to come to it is because I knew that Amelia would not want to leave without a diagnosis. Knowing her diagnosis will also be fair to Amanda.

But deciding to go ahead with the genetic testing took a lot of courage.

Because as a mum, what you want from the diagnosis sometimes is not just knowing the label to it, right? You pray with all your heart that the diagnosis could lead to some intervention, even though she's already 15 this year.

And we know that for any genetic condition, there might be hope; the hope of slowing down her regression.

It really took a lot of courage to go through that series of tests for her. And now, we now know that the diagnosis came too late for us to do anything.

How did it feel when the test results came back?

I remember that day when I got that call with the geneticist. I felt that I was knocked out for the entire day.

Honestly, I wanted to go hibernate. I wanted to just hide in a corner, to keep crying and crying. Because after knowing the condition, what was deep within me was, "Lord, why me? Why us? Why Amelia?"

And I wanted to take comfort in whatever people had told me before: "You are chosen. You were chosen to be her mother. You're chosen to be the pillar of the family." But it was really hard. It was really hard because this condition hit us so hard.

And the prognosis was even harder, when you know that your child has actually reached the end of the prognosis. And honestly, she has been totally wiped out. Amelia has been robbed, robbed of everything that you can think of.

The last thing that I think God has left her with is her breath.

Did you feel like there was more hope or less hope before the diagnosis?

Before the diagnosis, before we knew what the condition is, at least we didn't have that number to it.

Now, it's like when you are diagnosed with cancer, and the doctor tells you, "You have only six months to live." It put me in that space, in that cocoon of thinking that, "Hey, you know what? She has really reached to the end of the road."

It's really a painful dilemma, because on one side of it, you want to give thanks, like — Hey, she's 15! She has earned like 50 per cent more than what she "deserves". Right? But on the other hand, you know that anything could happen.

Because time is something that we can't buy. We are fighting with time; every day is so precious, every second is precious. And she's just ticking away, right? She could be breathing well at this hour, she may not be breathing well the other hour.

How many people would really understand the pain? How many people would really understand that it seems that you are in the ICU mode all the time? But when you're in the actual ICU, you have doctors and nurses on standby. When your daughter is not breathing, the nurse and the doctor will just open the door and give her whatever she needs — CPR or oxygen and everything.

But we're doing this every day. Every single day.

We have to be watchful. We have to be resilient. We have to think out of the box. We have to work with our own due diligence, not because of the responsibility but because we love every moment of her.

Nobody can tell you when death will come, right? Unless Amelia gives up herself. And what I really take pride in is that she never gives up on himself. Even that little bit that she can, she just wants to lock in that memory and that time with us.

What would you do if you knew that you have only limited time to live on earth? It is easier to sink into depressing emotions than to arise from the drowning moments, isn’t it?

After getting Amelia's diagnosis in September, I took close to a week to hibernate. I wanted very much to ignore Amelia and shut her out of my life. I tried to make myself busy with work and mundane things of the world.

It didn't help at all because I realised that after these years with her, I could not ignore her at all. My daily schedule has been all filled with my time with her.

It is easy to let our time together pass quickly and for us to forget that she needs us to involve her in our lives every day. But as a mother, I choose to stay involved.

How do you hope to spend the time you have left with Amelia?

The diagnosis is not a closure to her life. Rather, it makes me appreciate every minute I have with her.

Embracing the present can be a gift to demonstrate the strength of God that is placed within me, rather than focusing on what Amelia cannot do or what she has yet to lose.

Sometimes it can be quite frustrating for her to communicate with us, because she has lost her vocal ability. It can mean taking more than 10 to 30 minutes to get a blink or a swallow, in order to get an answer to a yes or no question.

We do not take her answers lightly, and appreciate that she takes every part of her just to communicate with us and to stay with us.

I think what is very amazing is that every time we think that she has come to the end of where she's going, she surprises us every time.

Like recently, she has been able to vocalise a bit and make a sound. And while we know that she will not be able to return back to the time when she could babble and all that — it will never happen, right? — but at least, I'm very thankful that she can actually vocalise with that sound sometimes.

And honestly, we won't know whether we will still have her with us next year. I would say we are just living by each moment. And each moment is really very precious.

This whole episode taught me that engagement with her is very precious. How many times have we all been guilty of just sitting beside her, using our phone, or with our eyes on the TV?

As a mom, or even as a person, I have learned so many precious lessons from her. Every day she's teaching me not to give up. As I see Amelia slip into her regression, I knew that she lived on courageously for a good reason.

Now we know the diagnosis, and we know that the day I will need to surrender her to God might come even sooner than we thought. I thought that my prayers could be, "God, maybe let her live till she's 21, live till I'm lao kok kok (very old) and cannot carry her anymore."

But I think we want to embrace more moments with her rather than to keep telling ourselves, "No, that day will come. That day will come. She's gonna die. She's gonna die."

Now with all her hiccups every day when we need to attend to her acute, sudden problems like not breathing and all that, I've learned to be a little bit more tactful. I've learned to tell myself, "Yes, I only can pray with all my heart that if that moment will come, I can still embrace her in my arms." So that is real lah.

And I don't know how else to... to push myself further to think that there's still hope in less painful things to come by.

I just pray that these things that we are managing on a daily basis, we are able to manage until that day comes. I mean, we also don't want her to be in pain. On the other hand, we pray with all our heart that she will have the same determination and that same resilience that she used to have, though we know that her muscles are all losing strength.

Over the past one year, we have gone into many, many countless acute situations that we thought we almost lost Amelia.

One Sunday morning at 5am, I thought that that day had come.

But our little fighter, as strong as she is, as strong as her determination to stay with us… and after that huge episode, we learned to really sit back and understand that she’s growing up.

Sometimes we wish that with every diagnosis, you can see some light at the end of the tunnel. But for Amelia's condition, there's really no light.

I hope that by sharing Amelia's story, we can get more medical practitioners and any people who would like to find out more about this to be interested in connecting with scientists researching the condition.

I also hope that any parents who see their kids regress do not give up hope on their kids, but rather embrace the moments they have together and love their kids like there is no tomorrow.

The Ng family is fundraising for the INADcure Foundation. Find out more about INAD and Amelia's situation here

Check out our podcast episode with Wendy, Amanda, and Amelia here:

Read our previous interview with Amelia’s family here:

Top photo via Facebook / Sisterswithlove. Some quotes have been edited for clarity and grammar.