Real Life: Club foot
Bone issues are par for the course for the Dawsons. But thanks to the Ponseti method and cooperation between state healthcare and nonprofit organisation Steps, club foot is one condition they’ve now kicked to the kerb, writes Joe Nake
CHARLENE DAWSON and her husband, Hennie, from the town of Nigel in southern Gauteng, have some pretty interesting genetic conditions between them, their three children and their extended family.
Charlene, 27, explains Hennie has nailpatella syndrome.
This is a genetic disorder characterised by small nails and kneecaps (patella is the Latin name for kneecap) – and in the 38-year-old boilermaker’s case, an inability to straighten his arms. It’s got a bunch of other names: hereditary onychoosteodysplasia (HOOD syndrome),
Fong disease iliac horn or Turner-Kieser syndrome. It occurs in one in 50 000 people, and the chance of passing it on to your children is 50 percent. And it can remain undiagnosed for many generations. “Nail-patella syndrome is rare. I have only seen a handful in my career,” confirms professor Anthony Robertson, an orthopaedic surgeon.
Most of Hennie’s male ancestors were also affected by a variety of conditions that affected their physical appearance. He says there are uncles, a grandfather and a great-grandfather who are or were short, and some relatives couldn’t walk at all.
Most of the details are lost – since we have not always shared our medical histories like we commonly do these days. But bone and growth disorders run in this family.
“The condition may be a new mutation in an individual or be inherited in an autosomal dominant pattern,” Prof. Robertson explains. “This means that one parent may pass the abnormal gene on to his/her children, but very often the expression of the abnormal gene may vary, even between individuals in a family.
And so although rare, once a family has the abnormal gene it is not unusual to see the combination of abnormalities to varying degrees in affected individuals of one family.”
The Dawsons’ first-born, eight-yearold Jessica, has brittle bone disease (osteogenesis imperfecta, or OI), which means her bones break easily.
She broke her first bone at six weeks (“I felt terrible and blamed myself for being negligent,” remembers Charlene), had another leg fracture at a year and again at age three. Despite testing, her condition was not diagnosed until her third break, when she was finally referred for specialist care.
Jessica now goes to the metabolic unit at the Chris Hani Baragwanath Academic Hospital in Diepkloof near Joburg every six months for followup and takes calcium and vitamin supplements to manage her condition. She has not had a fracture since.
But fascinatingly, “I’m not aware that OI (also genetic, but a different gene) is typically described as part of nail-patella syndrome,” Prof. Robertson says. This certainly makes the Dawsons unusual.
Samantha, now five, is the couple’s second daughter. A breech baby, she was born in Delmas during a c-section. When Charlene first saw her baby’s arms, she realised they looked exactly like Hennie’s – she could not straighten them. She realised straightaway that Samantha had nail-patella syndrome, too. But the bigger shock was her feet: the baby “basically didn’t have feet – that’s what it looked like to me at first – because they were pointed back so badly,” remembers Charlene.
“We never saw this on the sonar scans before her birth.”
Samantha had club foot, which is associated with the genetic deviation that causes the nail-patella syndrome.
“Once a club foot is associated with an underlying cause, it’s no longer ‘idiopathic’ – the most common form of club foot – and the treatment becomes more challenging with higher relapse rates,” Prof. Robertson explains.
Charlene started the process of being referred: first to Heidelberg, then
Natalspruit’s hospital, before Samantha finally started treatment at Bara, following in her big sister’s footsteps. There, Samantha could be treated thanks to a dedicated club-foot clinic that is supported by the club-foot nonprofit organisation Steps (see sidebar).
“Even with club foot that is not idiopathic, the best treatment is by the Ponseti method, and I’m pleased that this family was eventually referred to Bara for this technique with good results,” Prof. Robertson says.
“The medical fraternity must be made aware of this method of club-foot treatment, and patients with any foot deformity should be referred early for assessment and best results.
“Promoting this awareness is where Steps is doing such fantastic work! Ideally, Ponseti clinics should be rolled out to peripheral hospitals to make the relatively simple manipulations accessible to all patients, as travelling long distances to our central hospitals is often difficult on a weekly basis. Steps is also very active in this regard.”
By the time Charlene gave birth to little Hendrik, who is now eight months old, she knew her way around the Ponseti method.
Still, his club feet were also not diagnosed antenatally, and so the family had to absorb another surprise. “At first I blamed myself,” remembers Charlene. “When I saw those backwards-pointing voetjies, it was hard. But I started to accept it, that it could happen in any pregnancy, and that this was sent to teach me I can handle any situation.”
It was back to Bara once again. The family has nothing but praise for the state healthcare system, which transports them weekly from Nigel to Johannesburg and back for the arduous treatment process.
It involves the gradual turning and setting of the foot or feet in place over a period of months (see sidebar on the Ponseti method).
At one month old, Hendrik wore a plaster cast for two weeks. He also had an operation at four months to lift the dropping bridge of his foot.
Another two months of casting followed, and then Hendrik got his “special shoes” (his club-foot brace: boots attached to a bar that holds the feet in the correct position), which he had to wear 23 hours a day for three months. In what is known as the “maintenance phase” of the Ponseti method, he will now continue to wear the brace when he sleeps until age four or five. And soon, he will be running around like any other boy, with very little idea of the hundreds of non-governmental organisation workers, doctors, volunteers, and hours of research that made it possible.
It is often said that the best bosses do their job so well they work themselves out of a job. In this family’s case, the support systems have been so effective, they were eventually no longer needed – twice.
A success story indeed!