UCT a fortuitous choice for Ghanaian scholar

South Africa was never on Ghanaian Dr Nicholas Thomford’s list of countries to do a PhD in pharmacogenomics – it’s a rare field and much of the expertise resides in Europe. But coming to UCT was fortuitous in the things that mattered most, particularly his baby son.

Thomford is a postdoctoral research fellow in the Division of Human Genetics and his story is a weave of tenacity, serendipity and the generosity of people in a division he’s come to call home.

Serendipity came into play first for the former teacher of medical biochemistry and chemical pathology.

While working in a hospital at Tamale, he encountered patients with kidney-related conditions linked to taking prescribed medicines in tandem with self-administered herbal remedies. Though herbal medicines are widely used in Africa and Asia, they are poorly researched.

Medicinal herbs have thousands of active compounds that can inhibit the enzyme breakdown of conventional medicines in the body, Thomford says. Even ginger, garlic, fruit juice and hormonal supplements can affect the breakdown of prescribed medicines. In extreme cases, drug build-ups can cause comas and fatalities.

“We imagine that because these remedies are naturally occurring herbs, they won’t have side effects. But, it’s important we try to avoid combining such things.”

In many cases, a ‘don’t ask, don’t tell’ policy exists between doctors and patients – patients don’t tell their doctors they’re taking alternative herbal remedies, and doctors don’t ask.

“We need to know more about the pharmacogenomic implications of mixing traditional herbs and prescribed medicines − and translating this to the product packaging and inserts to alert and guide consumers,” says Thomford, who says he’s made something of a habit of trawling the shelves in shops and pharmacies.

Unexpected detour

Although Thomford was interested in developing research in the area, there weren’t any academics in his home country keen to supervise his PhD studies. So he looked abroad to Sweden, Switzerland and Germany, where much of the expertise in pharmacogenomics lies. But a chance meeting with UCT’s Professor Collet Dandara (Division of Human Genetics) at a conference in 2013 changed the course of his life.

Among other things, Thomford was impressed by Dandara’s publications count and was keen to have him as a mentor and role model. In turn, Dandara was interested in the PhD research proposal Thomford sent him and extended an invitation to apply to UCT.

It took some persuading to get the National Research Foundation to fund a foreigner, but in 2014 Thomford said farewell to his wife and young son and came south. With financial resources that would barely stretch three years, he knew he’d need to put his head down.

His study involved the analysis of 20 commonly used medicinal herbs from Botswana, Ghana, Zimbabwe and South Africa. While some medicinal herbs are endemic, others are common to many parts of Africa and Asia. For example, Boerhavia diffusa, a flowering plant commonly known as punarnava and taken to relieve pain, among other things, grows widely across Africa and Asia.

“But although the phyto constituents are the same, the quantification of these may not be across regions.”

Twelve-hour days in the lab became the norm, including weekends. He somehow found time to pen seven papers for international journals, four as first author and three as co-author. Visits home to his family were rare.

“I didn’t want to let people down, least of all my fellow Ghanaians who’d come after me. This is something we’re brought up with as Ghanaians: when someone vouches for you, you make sure you don’t do anything to bring that person’s name into disrepute.”

Bad and good news

Just after handing in his PhD in late 2016, Thomford asked Dandara for a brief time-out to return home. A second son had been born in the final stages of hand-in. But the homecoming was bittersweet. Holding three-month-old Nicholas junior for the first time, Thomford knew something was wrong; the infant’s heartbeat was too fast and his lips were tinged blue, signs of too little oxygen in circulation.

Investigations showed an oxygen saturation level (SpO2) of only 40%, less than half the normal rate. Further tests showed that the baby had a transposition of the great arteries with a ventricular septal defect. The aorta and pulmonary arteries, which circulate blood between the heart and lungs, were switched, the aorta arising from the right ventricle and the pulmonary artery from the left ventricle.

The prognosis was poor. Distraught, Thomford sent a message to Dandara, who was in Zimbabwe at the time. Dandara got in touch with one of his co-supervisors, Professor Ambroise Wonkam of the Red Cross War Memorial Children’s Hospital, and the medical network at UCT began to buzz.

Wonkham contacted a paediatric cardiologist there who agreed to take the case. It would be high-risk, the surgeon warned; these operations are usually done at six weeks and Nicholas junior was almost four months. His blood vessels had thickened and his heart was enlarged. There was less than a 50% chance of success.

The immediate challenge was getting the baby to South Africa as Thomford’s means were modest. “But I had to fight for him.”

Then Dandara called to give him some unexpected good news.

“When he called to say, ‘Congrats’, I said, ‘Congrats for what?’ He said, ‘You got three As and only minor typographical changes.’ ”

His PhD had been all but forgotten.

Flight from Accra

Instead, Thomford had been trying to work through some impossible logistics. The specialist in Accra had warned him that to have any chance the baby had to leave by the Sunday. Hiring an air ambulance was out of the question. Desperate, he contacted the South African Airways (SAA) office in Accra who said they could supply oxygen to the baby during a routine flight. But SAA needed head-office approval and it was 16 December, a public holiday in South Africa. The officer in charge at SAA, Ghana made a call to his superiors in SA and permission was given.

“We got the permit in two days,” says Thomford.

On 19 December Nicholas junior and his mother, Joana Twum, were flown to South Africa and he was admitted to the Red Cross hospital. Thomford had been living just across the road. There was no better base.

After examining the baby, the surgeon again warned the couple of the high-risk factor. But tenacity runs in the family. The 10-hour operation was successfully completed in only eight hours. However, they weren’t out of the woods. The infant’s left lung became blocked and he was given a pacemaker to help his heart function. He was in ICU for nearly three weeks. But the surgeon reassured Thomford: “This boy’s heart will pick up.”

And it did. After the lung cleared, Nicholas junior was moved to a ward and later discharged with some medicine. Thomford’s colleagues in the ‘Humgen family’ rallied and contributions rolled in – even a cot! Nicholas junior got an ‘all clear’ at his review on 23 March.

“He’s now alert, playful, curious – a normal seven-month-old baby,” says Thomford.

The crisis ignited a dormant interest in the genetics of cardiac malformation. Nicholas junior’s case has provided a sharp, personal perspective on these conditions. Depending on funds, he now hopes to tackle a new study with doctors at the Red Cross and UCT’s cardiology unit.

His co-supervisor Dr Kevin Dzobo, a senior research scientist at the faculty’s International Centre for Genetic Engineering and Biotechnology, says that Thomford’s story shows what foreign students can do to contribute to the body of knowledge and well-being of their host country.

“It’s seriously amazing for me,” says Thomford. “I didn’t know I’d come here; I didn’t know my son was going to get sick. I didn’t know I’d be living across the road from Red Cross.

“This is a double joy.”