‘Without it we will die’: Denied expensive medication for 3yrs, Russian family fights (and wins) against rare genetic disease
Diagnosed with a genetic disease that slowly eats away vital organs, and brushed aside by health bureaucrats, a family in Nizhny Novgorod have fought to obtain a crucial but expensive drug – a battle they are now winning.
As millions of children across Russia prepared to open their Christmas presents, 12-year-old Ivan Lobanov, a resident of a small hamlet near Nizhny Novgorod, turned the camera on and began to speak, his voice calm and lips stiff.
“I have a serious disease, the Fabry disease. I inherited it,” the pale, intelligent-looking boy is heard to say in the video. “My mother is sick, my cousins are sick, [as are] my uncle and grandmother,” the boy said, bending his fingers.
“I know that the medicine is expensive and we will never buy it on our own. But everyone has the right to life. Without medicine, we will die,” he added in despair.
Intended for Vladimir Putin and shared on social media, Ivan’s cry for help has become a turning point for him and his family, who spent three years fighting for a life-saving medication refused to them by their clinic. But for some of the family, it came all too late.
Fabry: A rare killer
Like many people who test positive for deadly diseases, the seven blood relatives – whom Ivan had asked to help – learned of their diagnosis by accident.
A blood test and subsequent DNA sample taken from one of the seven back in 2016 showed initial symptoms of Fabry. Later that year, the deadly diagnosis was confirmed in all of them by leading Moscow and St. Petersburg hospitals, Natalia Fedina, Ivan’s 32-year-old mother, told RT Russian.
Once back at home, the woman had the diagnosis confirmed by the nearest clinic. She – and her loved ones – had every reason to sound the alarm.
Discovered in 1898 by a German dermatologist, Fabry slowly consumes the kidneys, heart, blood system and skin, often causing unbearable body pain. It was almost a century before the first specific treatment for Fabry disease was invented and approved – but decades of clinical research didn’t make the drugs any more affordable.
The annual cost of fabrazyme and replagal – two Western-made medicines developed to stop the disease from progressing – is around US$100,000 per patient. And this is where the life of Ivan and his immediate family hung in the balance.
‘There’s no such disease’
Natalia recalls how she asked local authorities to cover expenses for the costly medicine under a healthcare scheme technically available to every Russian free of charge.
All of a sudden, the appeal was rejected by the local health ministry officials, who claimed the diagnosis was wrong because... the clinic didn’t have a geneticist among their staff.
But Natalia believes the authorities simply denied the treatment for seven relatives because the total costs would be overwhelming, given that the drug needs to be injected twice a month and is prescribed for life.
The clinic’s management and their superiors tried to prove the patients were healthy. “They would say: ‘There’s no such disease, what have you come up with?’” Natalia shared.
‘My son says he can’t take it anymore’
Fabry starts taking a heavy toll in early childhood, and this is what Ivan must cope with every day. “Vanya, he has his kidney damaged, his arms and legs suffer from severe pain,” his mother says.
You know, he comes back from school and says: ‘I can’t take it anymore, I’ll be in the wheelchair soon or die’.
Once symptoms recede, the 12-year-old may live a fairly normal life, playing computer games and dreaming of seeing the world.
“I want to travel abroad and go to the sea, maybe Egypt or Tunisia,” Ivan wistfully told the RT crew and smiled, but then broke off and got serious: “My arms and legs ache in the heat. You don’t sit still when travelling abroad, you walk or go sightseeing – but I can’t do so, it doesn’t work that way.”
‘My uncle died to save us all’
As health officials played bureaucratic ping-pong, Natalia, Ivan and the relatives managed to receive the medication through a charitable organization for half a year. But since the treatment must not be interrupted, their symptoms deteriorated.
Eventually, the mother had to quit her job, and her uncle sadly died. “51 isn’t the right age to die, he wasn’t going to die,” Natalia said, standing near his grave. “He went to the treatment on his own and came back in a casket.”
But after his death – and, probably, Ivan’s footage – something began to change. Natalia was contacted by local health authorities who assured her that the medicine is on its way to the local clinic and the treatment is due to start soon. She was also promised that an inquiry will be launched into their case.
“After his death, things started to move. The health ministry and hospitals, and everyone drew attention to us,” the woman says of her uncle. “He sacrificed his life to save us all.”
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