Love is not rare

Finding extra hours to care in Singapore

In conversation with Francesca Khor

Francesca lives in Singapore with her husband, and had a busy life as a General Manager for SalesWorks and looking after her daughter, Penny. Ellie then came along to complete their family in September 2019.

Francesca noticed immediately that Ellie had white spots on her skin, though initially thought she was just very fair. She pointed them out to a doctor during Ellie’s routine vaccination, who dismissed it as a rash. Luckily, three months later, an astute doctor at her clinic realised it was something very different. Ellie had several tests under general anaesthetic when she was about four months old; including electrocardiography, biopsy, magnetic resonance imaging (MRI), positron emission tomography (PET) and computerised tomography (CT) scans. This pretty much confirmed a diagnosis of tuberous sclerosis complex, prior to genetic testing. Francesca had to Google to spell the name right. “The worst thing a parent could do is look on Google to find the right spelling of the condition. They’re not good at selling the good stuff”.

“Tuberous sclerosis complex is basically a disease where your body is missing the ability to pause cell growth. So that’s why it’s called tuber, you know, like the potato, the little white spots. They get little tubers all around the heart, in the soft organs… in the brain, the kidneys, the abdomen, sometimes in the eyes. Then they get physical ones…like benign tumours”.

It took a while to receive the genetic confirmation as it was during Covid, and they couldn’t send the bloodwork to San Francisco. However, after all the tests they already had there was not really any alternative diagnosis.

Following a few months of grief, anxiety and isolation, Francesca decided “we just need to figure it out” so she registered as a beneficiary of Rare Disorders Society Singapore (RDSS). Initially this was overwhelming, and she took little notice of what they were doing nor participated in the group chat. Later, she became a committee member, started to contact other families, and was inspired by people’s strength in tough situations.

Francesca works fulltime, so has limited hours to commit to RDSS. She sometimes multitasks whilst waiting for the children’s enrichment school to finish or works in the evening and weekends. “I have sent so many messages out at night I have been blocked on social media!” She attends events when she can at weekends or during annual leave.

Francesa stopped running the online shop at night, which she had started during COVID. “I was packing boxes at eleven o’clock and I am like, this is not the life I want” . The social media channels she was using evolved into ways of learning and communicating about TSC. It started off with photos and then videos. “I realised that by publishing what was happening and how I felt, it was my outlet” . She would share good news and bad news and developed regular contact with a few mothers. “You don’t need one hundred people to be a community” Francesca adds.

As Singapore is so small it is hard to find another family with the same rare disease, including TSC. “You realise it’s so many…they’re the only one in Singapore who have that disease” . Also, the prevalence for TSC is higher in Australia, US and the UK. The American TSC Alliance is very informative, as are families with other rare disorders. Francesca is pleased to now have nine TSC families in her chat group, though some are not based in Singapore. There are several intercountry differences, for example, between the health insurance structures and the government support.

There are also differences between Singaporean and Western cultures - rare disease can be very hidden and private in Asia; Francesa added “It’s sometimes a bit taboo”. Some families have not told their own family members. It makes it difficult to share stories and experiences.

Flexibility in the workplace was not as advanced in Asia as in some Western cultures, though leapt forward during Covid. However, some companies are pushing for everyone to return to the workplace. It’s very hard for caregivers to progress in their careers or even work at all, and there is a long way to go for companies to accommodate their needs. Raising a child with rare disease is costly and the government does not cover all the expenses. Even if one parent stays at home there is the expectation that they would still be able to afford medical bills of $20,000 or more per month.

Carers may also have difficulty getting a break, as hiring professional nurses to care for your child overnight can cost hundreds of dollars. Many people in Singapore have a domestic helper from Indonesia, the Philippines or Myanmar. However, they tend to be very young and it’s a lot to expect of them to help look after a child with a rare disease.

Medicines are much more expensive in Singapore than larger countries; due to the small population there is no volume discount for the pharmaceutical industry.

“Firstly, you’re rare and then you’re rare in a very small country”, Francesca adds. For some medical interventions there is public healthcare, but the very expensive private healthcare uses the same doctors. The costs for medications, interventions, clinics and treatments take a toll on the family. A lot of the families discuss these issues with RDSS. Some families crowd fund for therapies costing millions of dollars, which may be essential for something as fundamental as being able to walk; others move countries, which has its own challenges. One example of a medicine not covered by public healthcare, for Ellie, is the medicine used for little red spots on her face. While these spots are non-life threatening, they can lead to bullying. The medicine for these costs $1,800 for 10mg and must be shipped from overseas. “We might have to sell a kidney each to buy the face cream…if you had insurance in Japan, you could get the same cream for a couple of dollars”.

Ellie needs medication for seizures and epilepsy, which she has been taking twice a day since she was about nine months old. Otherwise, Francesca says “you would see her walking and then just stop. She’s not responsive to you, then when she snaps out of it, she forgets what she was doing ten seconds ago” The doses need to be increased as Ellie grows. However, to keep the doses down, Francesca does not escalate them proportionally with every weight increase, saying “You have to follow your gut”. Due to her medication, Ellie can’t eat certain fruit and her older sister, Penny, helps monitor this - she is the “Orange Police!” Francesca has also told the doctors that she only wants Ellie to have essential MRI scans, as she is not keen on her having regular general anaesthesia when she is so young, furthermore, there are the high costs involved. “There will be times when you have to put your foot down” she says. The community Francesca now knows with TSC are supportive. They are mothers with young kids, figuring things out – for instance, how to support the children to develop speech.

However, there are not enough examples of what happens when they are an adult or what the treatments are.

Facilities superficially appear very good in Singapore, like the number of disabled toilets. However, it gets more difficult for older children and adults. “How do you change a teenage boy’s diaper? It gets very cramped then. These families just don’t go out”

It is important to take into account what is needed to support families at all stages. For their annual family day, RDSS ensures everything is considered - from how people get there, whether there are enough power sockets for their equipment, to making sure medical staff are on hand. RDSS tries to build a community to help the caregivers. The network supports everyone around the child; which could include the parents, grandparents and domestic helpers.

RDSS also have a department for research and education. The RDSS team visit primary schools to facilitate education around children with rare disease and their needs. The digital footprint Francesca has created on TSC through RDSS, and her social media channels, is also a useful resource to share with teachers and friends who need to learn about Ellie’s needs.

Ellie is doing well currently and has passed her developmental milestones. Typical of her peers, she is into the movie ‘Frozen’ and received princess shoes for her birthday. She knows that she has a condition and must take medicine, though doesn’t fully understand it yet. Francesca, like many rare disease mums, worries about what life will be like for Ellie when she’s older and “It’s what the quality of my child’s life will be when I’m gone”

Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in many different organs; primarily in the brain, eyes, heart, kidney, skin and lungs. It affects around 1 in 6000 people, though incidence varies in different regions of the world. Either one of two genes can cause TSC; TSC1 on chromosome 9; producing a protein called hamartin or TSC2 on chromosome 16 that produces tuberin. Severity of TSC varies between individuals with symptoms including seizures, developmental delay, intellectual disability and autism. Early diagnosis and intervention can help overcome developmental delays; for example, by the use of anti-seizure drugs. Surgery is used to remove accessible tumours, or drug treatment may be used to shrink some less accessible brain tumours. Complications in organs such as the kidney, lung and brain can lead to severe difficulties and even death, if left untreated.

Information from TSC Alliance

View their website

Rare Disorders Society Singapore

Rare Disorders Society Singapore (RDSS) is a charity originally established in 2011 by parents of a child with Pompe Disease. It aims to raise awareness of life-threatening rare diseases with health services, authorities, and drug manufacturers to improve access to sustainable treatments and quality of life. As the only society in Singapore focussing on rare disease patients, they accept and support all forms of rare disease, including those undiagnosed. The society offers financial support to almost two hundred Singaporean rare disease families towards medicines, therapy, lifestyle and home-based learning. It provides emotional counselling, support networks and resources.

View their website