A remarkable patient, a determined doctor

Posted on 12 March 2020

Angelique Schroder, born with symbrachydactyly, is living proof that where there is a will, there is a way.

When Anna and Dirk Schroder fell pregnant with their second child, they chose to have every possible scan, routine or not. “We’d lost children before,” he says, “so we wanted to double and triple check that she was growing normally. We went for 3D scans, 4D scans – all the doctors said, Yes, she’s healthy.”

Little Angelique was delivered by Caesarean section. “The doctor brought her out, and handed her to the paediatrician. Straight away, I heard my wife say, Wait, where are her hands?”

The girl was born with symbrachydactyly, a congenital abnormality characterised by anomalies of the hand or foot, such as webbed, misshaped or shortened fingers. In most cases of the condition, some bones will be missing from a few fingers, and some fingers on one hand may be missing altogether.

Symbrachydactyly is so regularly restricted to one hand that it is often referred to as a unilateral hand malformation. It affects fewer than one in 32 000 live births, worldwide, according to the National Health Service in the United Kingdom.

But Angelique was extraordinary: she was missing all her fingers, on both hands.

Anna and Dirk reacted as most new parents would: they panicked. “We went into our shells,” he says. “We distanced ourselves from the world; locked ourselves away at home, trying to gather our thoughts. Trying to come up with some sort of plan.”

Dirk’s father is friendly with Dr Wolfgang Loskin, a general and reconstructive plastic surgeon, who had completed his medical training in Pietermaritzburg and had since practised in the United States. Now retired, he suggested he may be able to find a specialist to help.

That specialist was Dr Mark Van der Velde, a plastic and reconstructive surgeon and specialist hand surgeon, at Mediclinic Cape Town. “We see cases of symbrachydactyly fairly often,” he says. “And usually we are able to assist through grafts: we lengthen the bones that are present, and create a basic pinch, so these children can hold things a little easier.”

That initial email kickstarted a four-year journey of growth and development for both patient and doctor. “I felt we could do more,” says Dr Van der Velde. “We all want to move forward, and get better at what we do – so I thought, let’s go all the way. We can do this.”

That way forward would be a microvascular toe-to-thumb transfer surgery. Ideally, this surgery would give Angelique a wider, firmer and more capable grasp, empowering her to grip large things, such as an orange, and small ones, including a pencil.

In theory, this would help her live a normal life. There was just one problem. No one had performed this surgery in South Africa before.

During the development of a foetus within the womb, a baby’s hands are shaped like mittens, or paddles, before the fingers lengthen and divide. When a developing baby has symbrachydactyly, the fingers do not form as expected. Bones within the fingers may be smaller than usual, or fail to develop at all, and muscles, ligaments and nerves of the hand are usually also affected.

Researchers are unable to pinpoint a cause of symbrachydactyly. Some experts say there is little evidence that shows a genetic or hereditary link, while others suggest it may stem from some or other disruption in prenatal development, especially that which may disturb optimal blood flow.

Most children with symbrachydactyly grow up doing everything other children can do. These children are not disabled, says Dr Van Der Velde. “A disability is when you have something taken away. But children are naturally capable. I’ve seen a child unwrap a lollipop with only his elbows. I’ve seen children learn to write using their toes. They use what they have. It is amazing.”

Angelique’s case was so rare, it was almost unique. Very few plastic surgeons, anywhere in the world, have experience in surgically treating bilateral symbrachydactyly. And fewer still have surgically repaired the effects of this condition in children.

By the time Anna and Dirk met Dr Van der Velde in person, they were desperate. “Up to then, for kids with this condition, we had been performing bone grafts in the remnants of their fingers,” says Dr Van der Velde. This involves grafting pieces of bone from the hips, legs or ribs into the phalanges, or phalanx bones, in the hands. A bone graft can be effective at lengthening or enlarging the bones in the fingers enough in order for the child to gain a more effective pincer technique.

This is where Angelique began as well. “When she was six months old, doctors took bone fragments from two of her toes and grafted them into two fingers on her left hand,” explains Dirk. “Then, when she was one, she had another operation: to put some bone from her toe into her thumb.”

Dr Van der Velde says Angelique was born with tiny, underdeveloped fingers on one hand, and no hand at all on the other arm. This is known as amelia: the complete absence of one or more limbs. “She had nothing more than metacarpal bones,” he says, “and these grafts gave her a rudimentary grasp. It was no more than a basic, narrow pinch. The challenge then became to give her the benefit of a wider grasp.”

Three years later, the parents got a phone call. Dr Van der Velde would like to speak to them about a new surgery that could change their daughter’s life. “We drove down on the Easter weekend, and he told us about this new surgical solution,” says Dirk. “He wanted to take a complete toe and place it into where her baby finger should be. It would be a massive operation. There were serious risks. It had never ever been done for a child, anywhere in Africa. We were terrified.”

Terrified – and hopeful. Dr Van der Velde had spent the past few years in training, travelling to Europe and Hong Kong to learn from the world’s leading hand surgeons, including Dr Christopher Price, a South African-educated specialist in reconstructive microsurgery and a member of the American Society of Plastic Surgeons.

By chance, he also met Professor Simon Kay, a UK-based consultant in plastic, reconstructive and aesthetic surgery and hand surgery and a member of the Royal College of Surgeons. “We spoke at length about Angelique, and he said, You should absolutely pursue this. And I said, Okay, please show me how.”

When Dr Van der Velde felt he had completed enough training – which included dissecting multiple cadavers – to be reasonably confident of the surgery’s success, he spoke to Anna and Dirk, and asked, Are you ready?

They were. Grasping objects, after all, is a major part of any young child’s development, and thumbs are key to this basic function. The timing was also carefully planned: at a symposium of hand surgeons in Hong Kong, experts presented research that showed children who undergo this surgery aged four or five usually do better afterwards, as they tend to be more cooperative in the rigorous follow-up therapy.

“In South Africa, kids frequently lose fingers in accidents,” he explains, “but it’s usually one or two. If they lose a thumb, we can surgically remove and replace the index finger in a position where it is turned – giving them an opposable digit.”

Angelique would require something more drastic. Doctors would remove her entire second toe, taking care to preserve nerves, muscles and veins, and surgically attach it to her left hand, creating a thumb. “To improve and widen her grasp, we had to put something on the other side of her hand,” he says.

Anna, Dirk and their daughter flew down to Cape Town, where they were admitted to The Red Cross War Memorial Children’s Hospital, South Africa’s only dedicated child health institution and a centre of excellence for the training of all categories of child health professionals. It is regarded as South Africa’s leading centre for postgraduate specialist paediatric medical and surgical training, and many doctors in private practice throughout SA lend a hand at the hospital in aid of children needing innovative surgical procedures.

Dr Van der Velde has been working at a pro bono clinic at The Red Cross War Memorial Children’s Hospital once a week for 14 years. “The main benefit of using this hospital is that it is equipped for surgeries such as these – it has an intensive care back-up system designed specifically for post-surgery paediatric care. This is unique in this country. We need that digit to stay alive in its new position, so we have to maintain optimal blood pressure, pain control – all the things that could cause a vasospasm.”

Vasospasm is a narrowing of the arteries caused by a persistent contraction of the blood vessels, known as vasoconstriction. This would severely compromise the health of Angelique’s new finger, putting her at risk of losing what is known as her free flap: the join that ensures the microvascular free tissue transfer has an optimal blood supply.

The surgery took just under 13 hours. It was the longest day of Dirk’s life. It was also a complete success. Dr Van der Velde told the parents they could expect Angelique to start showing signs of sensation in the new finger after about a year of intensive therapy and recovery. Just a few months after surgery, however, she reported feeling in her finger.

In all, Angelique has had five operations – including a follow-up procedure to help lengthen and loosen the tendons around the new digit, to promote its flexibility and overall function. She is five years old.

The years-long process has required significant emotional investment, from both the little patient and her doctor. “Maybe it was from working so closely with Dirk and Anna, and seeing how desperate they were for this to work, and to work well,” says Dr van der Velde, “or maybe it’s just because I suppose we all want to move forward and progress in some way in our chosen field – but I knew we could do this. No one had, ever before. But we planned it properly, we worked closely together as a team, and we’ve had some success.”

Today, Angelique shows no sign of compromised development. “She’s writing, holding a cup, she’s drawing better than I can,” laughs Dirk. “She goes to a normal school, changes her clothes by herself, visits the bathroom on her own – it’s a miracle. Without that surgery, none of that would have been possible.”

That she shows no sign of thinking about her hand when she uses it, says Dr van der Velde, is a sign that the surgery had the desired outcome. “She’s brave with it – she doesn’t hold back at all. They sent me a video where she’s picking up little snacks and then immediately putting her whole hand in the dog’s mouth. That reconstructed finger is part of her. Her brain has recognised that something is there, and that she can use it. Her cerebral cortex has completely adapted.”

Dr Van der Velde has since performed the same surgery on another patient: a young boy from the outskirts of Cape Town, who had lost all his fingers in a house fire. “Kids who can’t grasp face a huge challenge. Yes, they can adapt – and it is incredible to see how brave they are in the face of this obstacle – but this is a major malformation. It’s something that can hold them back from reaching their full potential.”

This surgery can correct that. “Playing with dolls, colouring in – these are everyday things we take for granted,” says Dirk. “When you can’t do that, you realise they’re an important part of her growing up. These things help her explore and express her imagination.”

The Schroders’ emotional investment has paid off in a dramatically simple way: they laugh, live, learn as any other family. “She’s confident, capable – she’s so happy. The surgery changed her life. It changed all our lives.”