The girl who forgets to breathe
Antoiné is just three but she has to be hooked up to a ventilator at night to survive
IT WAS a sunny summer day and the family were out for a walk, enjoying being out together in the fresh air. Little Antoiné, just two weeks old, was fast asleep in her pram while brother Matt rode his bike and sister Megan walked alongside, chatting to their mom. The family had barely gone 200m from their home in White River, Mpumalanga, when Melanie Dingle noticed her baby’s lips turning blue and heard her gasping for breath.
A qualified paramedic, Melanie picked Antoiné up and patted her on the back, yelling at Matt to run home and get her partner and Antoiné’s dad, Attie Marais.
When Attie arrived less than 10 minutes later, the baby was unconscious.
Melanie desperately applied mouth-tomouth resuscitation in Attie’s car while they raced to the rooms of their GP, Dr Ken Absalon.
The doctor placed a breathing apparatus called an Ambu bag (artificial manual breathing unit) over Antoiné’s face before rushing to the Mediclinic Nelspruit in Mbombela with the family.
Mercifully Antoiné was stabilised but that was hardly the end of the drama. In fact it was just beginning.
It turns out Antoiné suffers from a rare condition called congenital central hypoventilation syndrome (CCHS), which means her brain “forgets” to send breathing impulses to her lungs, Melanie explains.
But it took three years and visits to dozens of confused doctors and specialists before Antoiné would be diagnosed correctly. In that time the couple had to watch as their daughter stopped breathing countless times and the desperate dash to save her life began all over again.
TODAY three-year-old Antoiné runs around the family’s home like any other toddler but her life is a lot more complicated than that of most kids her age. Two weeks ago she was discharged from Busamed Modderfontein Private Hospital in Johannesburg where she’d undergone a tracheotomy to open a direct passage to her airways through her throat.
When she goes to bed at night a ventilator is attached to the tube to ensure she keeps breathing while she sleeps.
When she’s awake and active she usually doesn’t have any trouble with breathing, Attie (41) explains. “But when she gets sleepy her brain forgets to send her lungs the message to breathe.”
“Can you believe it took three years to diagnose her correctly?” Melanie (36)
says. “It’s a miracle she’s still alive.”
After the first incident Antoiné was treated in hospital in Mbombela for a week. Doctors performed test after test but couldn’t figure out what was wrong. She was also examined by doctors at Netcare Unitas Hospital in Centurion, Gauteng, and at Netcare Sunninghill Hospital in Joburg for weeks on end.
At one stage she was diagnosed with epilepsy and given medication but she kept having episodes where she’d stop breathing.
When Antoiné was a month old an unnamed Good Samaritan donated a heart monitor so her parents could be alerted if she stopped breathing in her sleep. When that happened, Melanie had to “remind” her to breathe by blowing in her face or patting the soles of her feet.
Finally at the beginning of this year the family were referred to Dr Steve Ponde, a lung specialist in Joburg with knowledge of CCHS. He arrived at his diagnosis by, among other things, testing oxygen levels in Antoiné’s blood and performing several tests on her lungs. Blood samples were also sent to Germany for further testing to confirm the diagnosis.
Ponde explained to Antoiné’s parents that the tracheotomy was the little girl’s only hope of survival.
Melanie says she can understand to a degree why so many doctors couldn’t figure out what was wrong.
“They’re simply unaware of the syndrome because it’s so rare. Worldwide there have been only about 1 300 reported cases since 1970 – and we’re aware of only three other cases in South Africa. There’s also no medical explanation for the syndrome.”
The only alternative to the ventilator is a diaphragm pacemaker but the device costs at least R1 million. “I’m at the point where I’d sell everything just to buy a pacemaker,” Attie says.
Melanie and Attie have medical aid but it doesn’t cover all the costly tests and treatment their daughter needs.
To help ease the strain, Melanie and Attie’s friends set up a committee that organises events such as pancake sales to raise funds. They also set up a Facebook page called Antoiné Dingle where followers are updated on the little girl’s progress.
Going ahead with the tracheotomy was a tough decision, Attie says.
“It would change her whole way of life. She loves water and used to play in the pool or bath for long periods. She also loves going to the ocean. But after the operation she’s not allowed to play in water anymore because it could enter her lungs via the tube and she could drown.
“Every night she has to sleep with the ventilator attached. In reality she’s a prisoner in her own body.”
But anything is better than not having their baby with them, Melanie says.
NO CRÈCHE would accept Antoiné because of the high risk involved in taking care of her – so Melanie started her own. A year ago Kaalvoetjies (“bare feet”) opened its doors and the centre now has nearly 60 children and 10 staff members.
Melanie and Attie also run the MD EMS Training Centre in White River, which provides first aid and safety courses to the community.
Antoiné has stopped breathing so many times that the lack of oxygen has caused damage to her body, including to her brain and speech abilities, which are about 30% behind those of her peers.
Her intestines have also suffered and she has chronic constipation, Melanie says.
Although Antoiné is on the ventilator at night, her health is erratic when her breathing doesn’t stabilise, Melanie adds. Twice a day one of her parents has to extract mucous from their daughter’s throat.
But it’s worth it, they say – the alternative simply doesn’t bear thinking about, Melanie says.
“We just take every day as it comes.”