Living with a rare disease: One mother's very special boy

Straits Times correspondent Amelia Teng, 29, with her one-year-old son Christopher and husband, Geoffrey Toi, 33. The cheapest option of the lifelong medication needed for Christopher costs $5,000 a month and the drug has to be procured from Australi
Straits Times correspondent Amelia Teng, 29, with her one-year-old son Christopher and husband, Geoffrey Toi, 33. The cheapest option of the lifelong medication needed for Christopher costs $5,000 a month and the drug has to be procured from Australia.ST PHOTO: KUA CHEE SIONG

After a Sunday Times report on children with rare diseases, correspondent Amelia Teng shares her own experience

My husband and I discovered we had something else in common this year, our fourth year of marriage - a bad copy of the same gene.

The odds of this happening are low, considering that there are tens of thousands of genes in each of us.

So my colleague's article on Dec 17 - coincidentally on my son's first birthday - on families whose children live with rare diseases, struck a chord. My son doesn't just take after my wavy hair and my husband's loud voice. He inherited two faulty copies of the same gene we had, giving him a condition known as bile acid synthesis disorder.

It is an extremely rare condition. According to doctors, it affects around five out of a million children. Aside from its symptoms, little is known about its prognosis as there are fewer than 50 reported cases in international medical literature. And until my son, there has not been a reported case here.

The disorder interferes with the production of bile acids, such as cholic acid, which help the flow and excretion of bile from the liver and assist in the absorption of fat and fat-soluble vitamins from food. Without cholic acid, toxic bile acids accumulate and damage the liver, causing it to fail ultimately.

When my son Christopher was four months old, we noticed that a scratch and a prick from a blood test left his nose and finger bleeding for more than 30 hours.

His eyes and skin were also still slightly jaundiced, and he was slow to gain weight, leaving him on the bottom of the growth chart.

We took him to hospital, and as he went through tests over five days, we were also put to the test of watching him struggle and being bruised from blood tests, and getting so hungry he reached for a pacifier for the first time. We were then told his liver was enlarged and had some scarring.

The night he stayed in the Intensive Care Unit was the first time we slept without our son at home.

The first year of parenting was nothing like what we thought it would be like. It has been like a storm, forcing us to rethink priorities and perspectives ... Now he has crossed the one-year mark, and we love all 10kg and 74cm of him.

I told a friend recently that this first year has been so eventful. "Life-changing," he corrected me. That is a much better word, on second thoughts. Because of the lessons my son has made us learn - to be more resilient in the face of chaos, to cling onto hope when life springs hurdles, and to be thankful for little blessings along the way.

It was a painful time because there were no clear answers then.

Results came only two months later in June. Doctors told us lab tests done in the United States confirmed that my son had bile acid synthesis disorder. This is rare, I heard, over and over again. So rare that my son is the hospital's first patient with the condition. A second hospital told us he was its first such case too.

The diagnosis is not the bleakest. What he has is treatable with lifelong medicine, cholic acid - the only known treatment. Though troublesome, that seemed doable.

But an online search floored us. The medicine that the hospital recommended would cost at least US$20,000 (S$26,700) a month. That works out to tens of millions of dollars as my son has to be on medication throughout his life.

Cholic acid is an orphan drug, so-called as the pharmaceutical industry has little interest in developing such treatments intended for a small number of patients. Confused and worried, we considered a liver transplant as we thought it would be cheaper in the long run. But doctors advised otherwise as it could mean other complications.

We do not belong to the poorest of families, but the figure was just staggering. How would we, and my son in the future, be able to afford the medicine? Especially since he will need higher dosages as his weight increases. We heard that at 16, the dosage will be fivefold.

The next few months were filled with family meetings, e-mails, phone calls about the medicine, cheaper alternatives and how to get financial help.

Well-meaning friends suggested crowdfunding, but we thought that would not be sustainable.

 
 
 

Our doctor said early treatment was vital to ensure no further damage to Christopher's liver. In some cases, it is of little use if the medication comes too late. After a few weeks of research, we found two cheaper options of the same drug from different countries. One costs $10,000 a month, the other around $5,000.

With our doctor's endorsement, we got a relative in Melbourne to buy a batch of the $5,000-a-month drug directly from an Australian pharmaceutical firm and have a friend flying back bring it over. We did not want to wait another six weeks for the hospital to bring in the medicine.

It would also cost more through the hospital because of other costs in the procurement process.

It was a stop-gap measure, but our priority then was to get our son the medicine he needed as soon as possible. We are thankful that the medicine has worked.

So many people have rallied around us in prayer and love, and I believe this has helped us not to be too anxious. Christopher is not just responding well to the medicine, he is thriving and meeting milestones. For these we are thankful, and grateful that there is a treatment - even if the condition will never go away.

But the road ahead will not be easy. After a two-month wait, our appeal to the Medication Assistance Fund Plus, a subsidy scheme for high-cost medicine, was rejected on the basis that the drug Christopher needs is not registered with, or listed by, the Health Sciences Authority and so cannot be considered for any subsidies.

It would cost a pharmaceutical company more than $10,000 to apply for the drug to be listed, and this can take years. It also would not make commercial sense if it is for just one patient.

My son's treatment is also not one of those approved under Medisave, and it does not fit the MediShield Life criteria, designed to cover large medical bills during hospitalisation and selected costly outpatient treatments such as kidney dialysis, chemotherapy and radiotherapy.

My son is not covered by any private insurance, although we hear that few, if any, plans would cover his lifelong congenital condition.

We searched for clinical trials around the world for my son to join but none was available. We thought about sourcing for raw ingredients and compounding the medicine ourselves, but doctors advised against it.

Each time a door shuts in our faces, disappointment and fear creep in. I knew raising a child was not going to be easy, but I did not think these challenges would come so early in parenthood.

I thought the earlier breastfeeding problems were painful, but I did not anticipate the deeper pain seeing my son confined to a bed hooked up with wires and drips.

I had no clue that we would be spending hours every month keeping hospital appointments, drawing tubes of blood, hoping, then cheering when we saw improving liver enzyme figures.

I was not prepared for days which revolve around medication; schedules based on medicine-taking. Or having to figure out how best to feed my son so he does not throw up the expensive medicine, and which syringes work better.

I did not foresee that we would have to speak to medical social workers, tell them our bank account balances and how much we spend on food and diapers.

I also did not think that the money - we've spent $60,000 on Christopher's condition so far - that we had been saving for our future would be soon depleted.

I was not ready to receive counselling about alternative options for conceiving a second child, who has a one in four chance of inheriting the same problem from us.

The first year of parenting was nothing like what we thought it would be like. It has been like a storm, forcing us to rethink priorities and perspectives. We accept that our son was given to us for a purpose that we do not fully understand yet. But the joy he brings is also beyond what we expected.

He was just 2cm when I first saw him on the ultrasound, and heard his heart beat. I could hardly believe I was carrying such a precious eight-week-old gift.

Now he has crossed the one-year mark, and we love all 10kg and 74cm of him. He squeals, laughs, smiles and has a lot of personality. He is a cheeky monkey, loves music, and big open spaces where he is free to crawl at full speed.

He cries like he is being tortured in anything that confines him, like the car seat and the high chair. He hates it, but is a champ at taking medicine after months of training.

I told a friend recently that this first year has been so eventful. "Life-changing," he corrected me.

That is a much better word, on second thoughts. Because of the lessons my son has made us learn - to be more resilient in the face of chaos, to cling onto hope when life springs hurdles, and to be thankful for little blessings along the way.

What are the chances of someone inheriting two faulty copies of the same gene? Unlikely, in the grand scheme of possibilities.

The laboratory reports and doctors describe it as a genetic disorder, something that went awry during the creation of life.

But it must have happened for a reason. My son is not an error - he was made special beyond measure.

It's in his genes.

A version of this article appeared in the print edition of The Sunday Times on December 31, 2017, with the headline 'My very special boy'. Print Edition | Subscribe