Nothing can prepare you for Amy’s story.
The years of suffering, the public humiliation, the trauma of watching her mother die.
On the day we meet Amy, she is thin. Desperately thin. Her 19-year-old son, Haze, the young man she is so enormously proud of, stands by her side. He is her protector, a young source of strength for his mother.
“He has a big heart and such a good soul,” Amy says.
Amy tells me she wasn’t always this thin. She has lost close to 40kgs in a matter of months and if she doesn’t put weight on soon, she’ll need a feeding tube.
She shudders, and then shakes her head.
“I don’t want to be fed through my nose. I need to put on at least 5kgs. I’m trying.”
The origins of Amy’s illness stretch back more than a century. For as long as she can remember, there was talk of a Portuguese sailor who met one of Amy’s British ancestors in Europe and fathered a child. The sailor was a carrier of a rare, mutant gene that medical scientists, a century later, would trace back to three localised clusters in Portugal, Ireland, and Japan.
The rogue Portuguese gene arrived in New Zealand in the DNA of one of Amy’s long forgotten ancestors, and ever since it has continued its destructive march through every generation of her family.
It was later given a medical name, ‘Hereditary TTR Amyloidosis’ but only after it had slowly developed in her maternal grandmother, mother, two aunts and an uncle. It killed them all.
Carriers of the gene don’t automatically develop the disease, but when Amy was 29 years old, she realised it was no longer lying dormant in her DNA.
“I felt a tingling in my hands and that’s the first sign. I knew what was coming.”
The amyloidosis is now ravaging Amy’s body and challenging her will to live every day. She is now 39 years old, and surviving as best she can in a Kāinga Ora house in a quiet suburb in Porirua. New medicines have been developed to treat TTR Amyloidosis, but they are not publicly funded in New Zealand. And tragically for Amy, once this disease starts to develop, no treatment or medicine can reverse the cruel damage it inflicts.
“I don’t care about me,” she says. “It’s too late for me now. Please, just help my son. Help Haze. That’s all I want.”
Amy (Te Whānau-ā-Apanui/Ngāti Porou) has raised Haze on her own, loving and caring for the boy she calls ‘Bubba’ for the last 19 years.
She has never spoken publicly about her disease, but that was before a recent test confirmed that Haze is a carrier too. If he develops the disease, Amy is desperate to make sure it stops with him, and her only child gets access to the right medicines to treat it.
“He was the best little kid. He never gave me any grief. He backchatted a couple of times when he was 13, but that was about it. He’s always been a good boy.”
Haze drops his head, shy and a little embarrassed at his mother’s praise.
Then he looks at his mum. “We’ve been through a lot, eh Mum? We don’t really talk about it much, but we’ve been through a lot together.”
“Yep, we have Bub,” she says.
TTR Amyloidosis causes an abnormal build-up of the amyloid protein in the body’s organs and tissues. It strikes the nervous system first and then starts to impact the heart, eyes, and the gastrointestinal tract.
The primary form of treatment in New Zealand is a liver transplant to try and stop the rogue production of amyloid, but despite a successful transplant, amyloid continues to build-up in Amy’s system.
She has a pacemaker too, but she says her heart is enlarged and the amyloid deposits cause it to ‘stiffen’.
Her plummeting blood pressure is a constant battle. She blacks out, collapsing heavily on the floor, six or seven times a day.
“I’ve got a removable showerhead now, so I don’t have to tilt my head back when I wash my hair. That’s stopped me fainting in the shower, but I can’t hang out the washing. I just black out and hit the floor.”
Haze says when his mother faints at home, he hears a loud bang when she hits the floor or falls onto furniture. In the seconds that follow, he doesn’t know what he’s going to find.
Amy is suddenly tearful and drops her gaze to the floor.
“It’s horrible for him. I don’t know what’s going on, and when I come around I either scream at him to get out, or yell at him to leave me alone. I don’t know what I’m doing. And I’ve got no control over my bowel, so I soil myself when I faint. I’m his Mum….I don’t want him to see me like that.”
Amy says she tries to get to her room where she can sleep for an hour or two.
“Haze normally just waits in the house. He waits for me to wake up….”
Her son keeps his head down and tries to speak but he can’t. There are tears in his eyes too. He’s 19 years old, but he’s already lived a lifetime. He had a 50-50 change of inheriting the mutant gene and the odds went against him. The disease is dormant for now, but the photos on the wall remind Haze every day that it has ravaged generations of his family.
There is no treatment available to reverse the damage caused by Hereditary TTR Amyloidosis but new medicines have been developed to specifically treat this disease, and prevent or delay its progression. New Zealand doesn’t publicly fund these medicines.
In Auckland, some patients are involved in two international clinical trials for amyloidosis, the most exciting of which uses a CRISPR-Cas9 gene editing treatment, a one-off therapy that disables the mutant gene that causes this wretched disease.
It is, unquestionably, revolutionary, and as one biomedical engineer said, gene editing is ushering in “a whole new era of medicine”.
However, our Ministry of Health has provided no thinking in this space, nor given any future consideration as to how our health system will respond to some of these – and many other – rapid developments in the treatment of disease.
In the past decade, successive New Zealand governments have, at best, taken a position of ‘slightly interested bystander’.
One of the drugs available to treat Hereditary TTR Amyloidosis is the Pfizer-developed, Tafamadis. If the disease begins to manifest in Haze, Tafamadis would likely be the drug his specialist would consider. However, despite being recommended for funding here, negotiations between Pharmac and Pfizer have stalled. And, at $160,000 + GST a year, it’s out of reach for the vast majority of New Zealanders. Not least for a young Māori boy from Porirua.
Amy’s condition is worsening and there is little support for her as she battles this rare disease.
If she has a specialist appointment, she won’t eat for 36 hours beforehand because her gastrointestinal tract is failing. She is terrified of losing control of her bowel and defecating in public and she can’t afford adult diapers.
“$20 for four diapers is…it’s just too expensive.”
This mutant gene is robbing Amy of so much, but not least her dignity.
In public, few people understand that she is ill. She has a disabled badge on the windscreen of her car, but she has been spat on for parking in a disabled park.
“People think I’m on drugs. I’m thin, I can’t walk very fast and I’m Māori with tattoos, but not everyone who is sick needs a wheelchair.”
On another day, when she tried to park in a disabled park, a woman stood in front of her, with her hands on her hips.
“There is no point trying to explain my disease. They won’t understand it.”
Suddenly a smile creeps across Amy’s face.
“I just sat in my car until she left but I was thinking ‘come on, Karen….move along’.”
Haze, who for so many years depended on his mother for love and care, is now the nurturer.
He has picked up some work with a construction company which he hopes will become fulltime, and he is supported by a group of kind and compassionate young friends.
“They’re awesome. They know. They understand. They’re always there for me,” he says.
Amy is grateful that Haze has a strong group of friends but when he isn’t in the room, she tells me that she doesn’t want Haze to see what she has seen. She was 16 when her mother died, and she is still haunted by her death.
“The ambulance men tried to bring her back to life. She was lying on the bed with her eyes open…I wish I had never seen her like that. It was 1998, and I still can’t get that image out of my head.”
Haze is heading outside into a cold Porirua southerly.
“Bubba, it’s cold outside. Get a coat.”
I notice the tattoo on Haze’s arm. It’s the same as his mother’s.
“The world is yours,” it says.
And it can be, if we agree to start working on a solution to New Zealand’s unfunded medicines crisis.