Johannesburg - The crib in the extra room in the Edmonds home hasn’t been slept in. It’s white and wiry and old-fashioned, and can fold out into a small bed. The walls are pale blue, with yellow moons and stars.
There’s a little yellow pottie in one corner, and a rocking chair that’s still waiting to be rocked.
A half-inflated helium balloon hangs listlessly in the air. “It’s a boy!” it says.
And on the door, in glittery letters, the name of the baby who still hasn’t come home: “Connor”.
It was only at the end of her seventh month of her pregnancy that Candice Edmonds thought there might be something wrong. She’d begun to balloon, swelling up with excess amniotic fluid in her womb.
“We could see from the doctor’s demeanour that something wasn’t quite right, but she couldn’t put her finger on it,” said Candice’s husband, Sheldon.
There were tests for diabetes, for double bubble syndrome and Down’s Syndrome. They all came back negative. Maybe it was nothing, after all.
The Edmonds arrived at the Netcare Olivedale Hospital at 6am on May 13. Candice was wheeled into theatre at 9.30am.
Forty minutes later, Connor Paul Edmonds was born.
Sheldon braced himself for the initial scream of his son. It didn’t come. Connor seemed lazy to breathe.
But the baby books had mentioned that, Sheldon thought, C-section babies sometimes took a little longer to react. And the medical team said there was nothing to worry about.
The nurses cleaned Connor off and the paediatrician put a tube down his nose and the baby started wailing. The doctor told Sheldon to come around and hold his son. He looked healthy, a chubby baby with a big eyes and sumo-wrestler arms.
“I don’t know if I can even describe that moment,” said Sheldon. “It was pure joy.”
He handed the baby to Candice and they posed for their first family photos. The nurses took the baby to the nursery, and weighed and measured him. They laid him in an incubator and gave his some oxygen.
He still seemed to be breathing oddly, Sheldon thought, panting almost. But what did he know? He was a new dad. Then an ICU nurse walked in.
Paediatrician Dr Klaus Leschner was concerned. It wasn’t unusual for babies to experience some breathing difficulties when born, but it usually cleared within a few minutes. Connor was being given oxygen and it still wasn’t helping. He was getting worse.
Leschner had the baby transferred to the ICU, with an oxygen mask and a drip. The clues were in the chest X-rays.
“His bones were all very abnormal,” said Leschner. They looked flat – widened. The ends seemed moth-eaten, soft ragged tips with no defined edge. And it wasn’t just Connor’s ribs. His whole skeleton was affected.
“His skull was so soft,” said Leschner. “Almost like he had absent skull bones.”
There weren’t many conditions that could give a skeleton such a distinct appearance at birth. It had to be some kind of bone disease. The blood tests began.
By dinner time, the Edmonds were growing anxious. They still hadn’t heard how Connor was doing or why he was taken to the ICU.
At about 6.30pm, Leschner walked in. He didn’t look happy.
“Connor has a rare condition,” he told the couple. “It’s called hypophosphatasia.”
Their baby had what?
Leschner tried to describe the symptoms, the effects, what it all meant, but even he felt a bit in the dark.
It was a rare genetic disease. Connor was lacking an enzyme crucial to his bone development, which is known as tissue non-specific alkaline phosphatase (TNSALP).
Without it, his skeleton would stay soft and pliable, never hardening into rigid bone.
The Edmonds were waiting for the “but”, to be told how the doctors would make everything okay. “What now?” asked Sheldon. “What’s the next step?”
Leschner paused. “There is no cure.”
The next morning, Candice woke up in hospital to an email from her sister, something about a new drug that was being developed specifically to treat hypophosphatasia.
“Enzyme-replacement therapy in life-threatening hypophosphatasia,” read the title of the attached study.
Candice’s eyes danced over the medical terms: gene mutations. Tissue non-specific isozymes. Bone-targeted recombinant TNSALP. Something called ENB-0040.
Candice shrugged it off. If there was any sort of cure, her doctor would have told her about it. Besides, if it was a new drug, it was probably defective anyway. She wasn’t going to get her hopes up.
At Chris Hani Baragwanath Academic Hospital across town, in a small office crammed full of unpacked boxes and textbooks on vitamin D – volumes one and two, second and third editions – Professor John Pettifor received a phonecall.
It was Leschner.
“He said he had a child he thought I should see,” said Pettifor. The former head of paediatrics at Bara had been researching bone diseases in children since the 1970s and was now an honorary professorial researcher and visiting professor at Wits’s faculty of health sciences. But only once before had he come across a case of hypophosphatasia, maybe 15 or 20 years earlier.
He knew Connor’s prognosis couldn’t be good. You need firm ribs to breathe, to hold the shape of your chest so your lungs can expand. Connor’s ribs were too soft. Every time he inhaled and his diaphragm contracted, his ribs caved in. He was breathing in short, quick gasps, his chest rising and falling rapidly. It would only get worse as he grew.
It was from this respiratory insufficiency that most affected babies died. Their long bones grew deformed, their motor skills were delayed, and sometimes their skull bones closed early.
But a paper had come out just last year detailing the test results of a new drug for sufferers, Pettifor said.
Asfotase alfa, or ENB-0040, was a solution to a seemingly unsolvable problem.
Previously, doctors had tried injecting sufferers with the missing enzyme and even experimented with stem cell transplants. Neither had helped.
The enzyme couldn’t simply float about in the blood. To work properly, it had to be at the surface of the bones, on the very cells responsible for bone development.
Asfotase alfa was different. Developed by Canadian pharmaceutical company Enobia, later bought out by US company Alexion, it was the enzyme with a twist: an extra protein that acted as a homing device, directing the enzyme right to where it was needed – the bone. It worked, impressively.
Of the nine babies and toddlers in the study who completed a year of experimental treatment, all displayed remarkable improvements.
What was moth-eaten and wispy-looking bone grew harder, more defined. Motor skills improved and breathing difficulties began to fade.
In May, asfotase alfa was designated a breakthrough therapy by the US Food and Drug Administration.
There were still unanswered questions: what is the correct dosage? Would a patient be dependent on the drug for life? And who would pay for it?
But Pettifor knew the lead researcher on the paper. He started making calls.
The neonatal ICU at the Netcare Olivedale Hospital is filled with parental advice brochures on allergies, pain and fever, skincare for your family, stretch marks and the use of fish oil. There was nothing about hypophosphatasia.
In his ICU bed, Connor was having a fussy morning. He squirmed and spat out his dummy and wailed when Candice tried to lift him. The mobile of smiling stars above him was no distraction.
“You can see we’ve been here a while,” said Candice.
The ICU had become home.
Candice arrived at the hospital every morning at 8.30am. Sheldon joined her after work. At 6.30pm, they left on order of the nurses. Their social life ground to a halt. Weekends disappeared.
A week after being born, Connor contracted a lung infection. Three days later, he seemed fine. But the doctors had warned them: Connor only had a 50 percent chance of making it to his first birthday.
Then on June 5, Leschner came in with good news.
Pettifor had made contact with Alexion. The company wanted Connor to join their asfotase alfa trial.
They were offering to cover all costs – travel to the US, accommodation, medication. All except for Connor’s ICU bed. He was weak. The doctors estimated he would need about three months on asfotase alfa before he could be moved out of the ICU. His bed would cost about R2-million, and Alexion wanted the Edmonds’ medical aid to cover it.
No problem, they thought.
For the first time since he was born, they felt hope.
“This could actually save Connor’s life,” Sheldon thought.
Discovery Health said no.
In a response to The Star, Discovery Health chief executive Dr Jonathan Broomberg explained: “The scheme does offer funding for 80 percent of the costs of overseas treatment up to a limit of R500 000 on the Executive and Comprehensive plans… Unfortunately, the Edmonds family is not on one of these plans”.
The Edmonds asked if they could upgrade their plan.
No, said Discovery. Upgrades could only be made in December.
The Edmonds didn’t have until December.
Connor’s condition would probably keep deteriorating with time. His bones would weaken. He would be even more vulnerable to chest infections. The raised calcium levels in his blood would damage his kidneys. He could start having seizures. Even his intellectual development could be affected.
December was too long to wait. The Edmonds applied for prescribed minimum benefits to cover Connor’s chronic condition.
No, said Discovery. There were 27 approved conditions and hypophosphatasia was not one of them.
“We didn’t even know what list they were talking about,” said Sheldon. “What were the criteria? How could we get hypophosphatasia on the list? Couldn’t it be updated?”
Discovery did not respond, and it was only through Leschner that the couple learned the application was turned down.
After nearly a month of trying, the Edmonds made an ex gratia application – a last-ditch attempt asking Discovery to do them a favour, to make an exception, to help save their son.
They had to send through bank statements and pay slips – “it was like making a loan application”, said Candice.
And then they waited.
The answer came over two weeks later, on July 11.
No, said Discovery.
There was no explanation, just a letter from an “ex gratia specialist”.
“We understand that this decision may not necessarily meet your expectations and regret that the decision could not be a favourable one,” it read.
“The ex gratia committee does not provide any reason for a decline… Please be aware that this decision is final and regrettable. No appeals will be accepted.”
It was like hearing Connor’s diagnosis all over again. Neither Alexion nor Discovery would cover the costs of the bed he couldn’t go without.
The Edmonds were devastated.
Defending Discovery in a response to queries from The Star, Broomberg said that “the rules of the scheme specifically exclude funding for any experimental treatments, and funding is reserved for medicines that are registered by the appropriate regulatory bodies”.
He added: “It would not be fair to make an exception in this matter when many other members have had similar requests for experimental treatment, both in South Africa and abroad, declined.”
Sheldon tried to explain that nobody was asking Discovery to pay for the experimental treatment – just an ICU bed. Discovery has not responded to this.
Connor’s was just one of many exceptional requests the scheme received on a daily basis, they said.
After The Star contacted Discovery, Sheldon started receiving emails from Broomberg himself. A Teddy bear was delivered. A customer relations consultant paid a visit.
“It doesn’t fix the way we were treated,” said Sheldon.
On Wednesday afternoon (August 1), Candice was at Connor’s bedside – she was always at Connor’s bedside – when Leschner walked into the neonatal ICU.
He had news. Good news.
Alexion had agreed to send a free supply of six months’ worth of asfotase alfa to South Africa on compassionate grounds. It had all been approved by the Medicines Controls Council.
After stone-walling the Edmonds for months, Discovery had worked its connections at the council to get the approval fast-tracked.
By the end of this week, Connor is expected to have the medicine that could save his life.
What happens after the first six months is still anybody’s guess. Connor will need long-term treatment and his parents are raising funds in the face of an uncertain future.
But as the months pass and he starts to respond to the drug, the damage of his disease will be reversed. His bones will first harden, then strengthen, and then grow. He will finally go home.
The crib, the rocking chair, the moon, the stars. They’re all ready. They have been for months.
“I want simple things for him,” said Sheldon. “I want him to feel the sun on his face. It wouldn’t help him, but it would make his little life more bearable. He’s never left that hospital room. He’s never felt the sun.” - The Star
Would you like to help?
The Edmonds family are trying to raise funds to maintain Connor’s treatment in the long-run.
You can donate online by visiting the Give All 2 Charity website at bit.ly/16M4Xy3
Donations can also be made using the following banking details:
Northridge Ladies Circle No 7
First National Bank
Branch code: 254905
Reference: Save Baby Connor
What is the disease?
Hypophosphatasia is a rare genetic disease of the bones, affecting about one in 100 000 children worldwide.
Children with the disease have low levels of tissue non-specific alkaline phosphatase, an enzyme needed for bone development and mineralisation.
Bone is made up of collagen fibres, a scaffolding-like base structure.
Phosphorous and calcium crystals harden on these fibres. This makes bones stiff and prevents them from fracturing. Without these mineral deposits, bones stay soft and pliable. The enzyne is crucial to this process, breaking down the inhibitors that block the crystals from forming.
The normal levels for adults are about 100 units a litre of blood of the enzyme. With their growing bones, children are supposed to have three times higher concentrations.
Connor’s blood tests came back at levels of about 10 units a litre. - The Star