NATALIE Reed had always been fairly fit and active.
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But then in April, 2016, she began to struggle with breathlessness when she was walking up stairs, or hills.
In the following 19 months, Ms Reed, 49, would undergo seven different biopsies and be treated for two other conditions before she would be diagnosed with AL amyloidosis – a rare disease that occurs when an abnormal protein builds up in the body and affects different organs.
“My body is making a protein that I can’t use,” she said.
“The proteins join together, and they lodge in different parts of the body, and mine are mainly lodging in my lungs.”
Initially, her GP suspected pneumonia. But antibiotics had no impact.
“Then they thought cancer,” she said. “They took a lymph node out of my groin which showed no cancer, which is a good thing, but it didn’t show anything else.”
One of her specialists was convinced it was sarcoidosis – an inflammatory disease that typically affects the lungs and lymph nodes.
“I had other symptoms – some bruising and spots around my eyes, rapid weight loss, as well as the breathlessness, and they still thought it was sarcoidosis. They really weren’t looking for anything else. So I was sent away with more steroids,” she said.
A lump later found in her stomach prompted a pathologist to test for amyloidosis.
The disease had been present in all of Ms Reed’s previous biopsies.
“Being so rare, it was not thought of by any of my specialists, and nor was it investigated,” she said. “They went back and checked the previous biopsies they had done on various parts of my body in all of that time, and it was in all of them. But again, not tested for, so not found.”
About eight people in 1 million are diagnosed with amyloidosis each year, Ms Reed said.
“In the research I have done since, all patients – if they don’t die first – wait 18 months-to-two years to be diagnosed,” she said.
“The whole time, amyloidosis was there, and the whole time, I was getting worse and worse.”
Ms Reed has undergone chemotherapy, and has had a stem cell transplant.
Her care since her diagnosis, with Hunter haemotologist, Dr Sam Yuen, had been “fantastic”.
“You can’t get rid of it, you can only get it into remission,” she said.
The events manager at Newcastle Entertainment Centre and mother-of-two said she was typically a very private person.
But she wanted to raise awareness of the condition – both for the public, as well as clinicians.
“If I had read an article that mentioned the dots around the eyes, and that carpal tunnel was a symptom – I had surgery for that a while back too – then I might have asked someone to test me for it sooner,” she said.
“I really want to thank my partner, Wes, and my children, Luke and Emily, and my family and friends, for their support.
“It has been a long haul, it is a long haul, and it’s nowhere near over.”
Symptoms of amyloidosis can include:
- Fluid retention
- Carpal tunnel, or numbness, tingling or pain in hands or feet
- Changing bowel habits
- Breathlessness
- Bruising and spots around the eyes
- Unintentional, rapid weight loss
- Severe fatigue and weakness
- Irregular heartbeat
