#MumStory: "I Never Thought My Son Would Have A Rare Disease"
Jocelyn Shu's son has BH4 deficiency, a disease so rare she doesn't know how his condition will affect him in the future
By Terri Kue -
#MumStory is a series by The Singapore Women’s Weekly to uncover the underrated and underreported moments in motherhood and parenting — because we believe every mum has a story worth telling. Got a story to share? Email us at sww@sph.com.sg or slide into our DMs on Instagram.
Rare diseases get their name because they affect a small percentage of people. In Singapore, a rare disease is defined as one that affects less than 2,000 people. Among the approximately 7,000 rare diseases, one of them is BH4 deficiency (hyperphenylalaninaemia), a metabolic condition that Jocelyn Shu's two-year-old son Isaac is diagnosed with.
BH4 deficiency occurs when there is a shortage of tetrahydrobiopterin (BH4) which is in charge of breaking down phenylalanine, an amino acid. In high amounts, phenylalanine causes chemical imbalances in the brain that can lead to seizures, speech and motor delays, intellectual disability, and other neurological symptoms. The disease can be inherited when both parents have one copy of a mutated gene each.
Jocelyn, co-founder of an interior design company, was devastated by Isaac's diagnosis. With BH4 deficiency being a rare disease, not much information about it is widely available, including living with the disease and the life expectancy of those who have it. Hence, she has no idea how Isaac's condition will affect him in the future.
Read on for her #MumStory.
We have always felt that we should just go with the flow - if a baby comes, we will be happy about it. A family should have kids running around making it more complete, shouldn’t it?
Isaac was born prematurely through an emergency C-section as we found out he had an irregular heartbeat during a maternity checkup. He was in critical condition and was immediately admitted into the Neonatal Intensive Care Unit for monitoring and newborn screening.
The test results showed that he had high blood protein. Subsequently, he was transferred to the Special Care Nursery and went through more medical tests. He was then diagnosed with BH4 deficiency three weeks later after an overseas test report.
Initially, we found it hard to accept the doctor’s initial suspected diagnosis as we could not believe that this would happen to our child. We were still hoping for the best until the final diagnosis. When it was confirmed, we were heartbroken and had to accept the truth.
He was later identified to have motor delays (in the early stages) and speech delays. We were then introduced to Asian Women's Welfare Association's Early Intervention Programme for developmental support, where the teachers and social workers from the centre have been actively helping us in any way possible.
Now, Isaac is a very bubbly boy who brings a lot of joy to everyone. He is growing up well despite his speech delay.
How did your family react to the news of Isaac’s condition?
It was so hard for us to break the news to our family members. There were a lot of questions such as "what is going to happen to him?" and "how will you cope with the uncertainty of the future?".
Treatment includes daily oral medication, which is taken four times daily. Regular checkups and follow-ups are also required for Isaac. Sometimes he will need to go for blood tests to make sure his blood levels are stable.
Our main concern at the start was: "How are we going to afford the long-term medication/treatment expenses for Isaac?" It is a whopping four-digit sum for a monthly dose. And we will have to bear heavier medical costs as he grows over the years. We wondered why rare disease medication was not subsidised.
But our priority was to treat Isaac and ensure sustainability in his medical cost for the long term. So, we decided to reach out to possible channels for help.
The doctors and social workers from KK Women’s and Children’s Hospital helped us with our concerns quickly, and we sought financial support from the Rare Disease Fund (RDF). A few months later, we managed to get partial financial support from RDF, which eased our burden a little.
We hope that government will look into funding/subsiding rare disease patients in time to come and that RDF will grow even bigger so that they are able to extend their support to more patients in the near future.
How has having a child with a rare disease changed your outlook on life?
Now, I feel that every pregnancy and child is a gift, especially when the child is born 100 per cent healthy.
I never thought that my firstborn would have such a rare disease in Singapore. I really hope that all parents don’t take their healthy child for granted. It is a blessing, even if they are naughty and playful. I believe many parents of children with rare diseases would have liked to see their children running around as well.
Yes, and we will always be worried about his future - for both his physical and mental well-being.
BH4 deficiency is so rare in Singapore; there is so much unspoken uncertainty, and we are unsure what will happen when Isaac grows up. It is a situation with a lot of what-ifs. No one has answers to how his condition will affect him in the long run. But we are very thankful that we found out early and were able to get treatment for him.
What are your hopes for Isaac?
Our priority and hope is surely for Isaac to grow up healthy and be like any other normal kid. I’m sure the medication, which is supported by the RDF, will tide him through his growing-up stages and the rest of his life.
To Isaac: Please stay healthy, happy, and brave, my dear son.
What would you say to parents of kids with rare diseases?
For parents who feel disheartened and blame themselves, we've been through that phase and can totally understand how it feels. But blaming yourself doesn't help.
As parents, I think we are braver and stronger than we can imagine; our children have the power to give us the energy to stay strong. So please don't doubt yourself.
If you feel that it’s too much to handle and you need alone time, just go for it. Meet up with one or two of your close ones (over a good meal, with a few drinks) and treat it as a self-care session. You will feel recharged going back to a smiley child who misses you so much.
What does self-care look like for you now?
Self-care is a luxury for me. I really appreciate all the me time I have. It can be as simple as a nice cup of coffee alone, a drama/movie time, or a KTV session with friends and family. A good facial or massage is always a great idea too. And lastly, a good night's sleep, of course!
I would choose to take it easy and be as chill as possible. It might be because I am a first-time mum, but I was so anxious about everything from him falling sick to having a fall, and even getting scratches on his face because his nails were too sharp or long.
First-time parents, please, please, relax. Everything is going to be okay, so don’t stress yourself out! Stress is not good for you mentally in the long term.
What would you say is the hardest thing about being a mum?
I would say it's time management, especially for a full-time working mum. Setting aside time to cater to the needs of my little one is challenging, be it for me or my husband. Since I’m working, Isaac is home with my mother-in-law most of the time, as well as in childcare during the day.
What is a recent motherhood moment that made you smile?
Isaac chased me around just for a hug when I reached home. It’s a simple action to welcome me, but it’s so sweet and my heart just melted.
What do you love most about being a mum?
I’m not sure if I am the only one, but I love hugging and smelling my son, haha!
Of course, spending time with him is always my priority. My son loves to eat (and isn't choosy). Whenever I have time, I like to prepare nutritious food for him to ensure he eats well.
The Rare Disease Fund is a charity fund that aims to help those with rare diseases cope with the high cost of medicine (where available) in the long term. It is managed by the KKH Health Fund, which is part of the SingHealth Fund and supported by the Ministry of Health.
Click here to donate.
For more info about the Rare Disease Fund, head to kkh.com.sg.