Carol's Story

Personal Story ‘The Rare battle in New Zealand’ By Carol


Carol lives with Fabry disease along with her children and other members of her family. She gives a very personal account of living with Fabry disease residing in New Zealand.

“You’re always sick mum.” The words of an 11-year-old who grew up too fast. His world shadowed by illness. Even on good days when his family appears normal and healthy, he knows that each day is unpredictable, that my pain and fatigue can flare without warning. This is his future if New Zealand doesn’t begin funding treatment.

In 2009, my health deteriorated and life became a daily battle. After tests arranged by my GP were inconclusive, the hospital, then my doctor rejected further testing.

The following year another family member was hospitalised with serious cardiac complications. In the 14 years since their first hospitalisation, they had suffered heart attacks, mini strokes and other complications. Specialists were dumbfounded, however, eventually, their doctor spoke to the right specialist 

In 2011, we received the official diagnosis of Fabry Disease which has spread like wildfire through our family tree affecting more than a dozen people. A specialist informed me my symptoms were normal for Fabry, but the wave of relief at finally having answers was followed by despair that this progressive and debilitating illness couldn’t be treated in New Zealand; even though treatment existed. As we entered the world of rare diseases we discovered we were not the only ones abandoned by the New Zealand Government and Pharmac.

Rare diseases are often misdiagnosed and mistreated. In New Zealand, around 7,000 conditions affect eight percent of the population.

The treatment for Fabry Disease is Enzyme Replacement Therapy or ERT which has been approved in more than 44 countries including Australia. Another rare condition, Pompe disease relies on a different ERT which is used in 76 countries. Neither of these lifesaving treatments are approved for funding by the Government of New Zealand.

In November 2016, there was a small step towards progress when Pharmac agreed to fund ERT for infantile Pompe Disease, unfortunately they declined for anyone over the age of two. Pharmac also approved the use of ERT for Hunter Syndrome (so rare only two boys are affected in New Zealand) and ERT for Hurler Syndrome, however, again the progress is limited - Pharmac will only consider two treatments: one before bone marrow or stem cell transplant, and one after; not all will qualify for this.

In December 2016, a petition was submitted to parliament by Samantha, a mother of two young children and one of eight New Zealanders living with Pompe. In her petition, she asked the New Zealand Government to increase funding for Pharmac and give those suffering eight different rare diseases a chance to live. These treatments come with a large price tag and do not meet cost effectiveness ratio calculations when compared to those of common treatments.

The pharmaceutical company that makes ERT treatment for Pompe Disease has been working with Pharmac for a decade to try and bring the ERT to New Zealand. After negotiations failed again this year despite price reductions being offered by the drug company, four of New Zealand’s Pompe patients were accepted onto a drug trial in Australia and another four are now on Compassionate use of treatment thanks to the Drug Company. Sadly, it came too late for a ninth person who died late last year.

Australian drug trials are currently the only hope for many who live with Fabry Disease in New Zealand. To be accepted their condition is often advanced to the point that without treatment they are facing a rapid decline and death. With failing health, they make numerous trips to Australia and undergo extensive testing, hoping the new treatment works.

My uncle suffered badly with progressive symptoms whilst on trial and couldn’t continue. He died aged 53, a reminder of the reality when a government won’t provide lifesaving treatments.  

Every family affected by a rare disease suffers as the struggle continues. Individually the numbers for each disease are tiny making it hard to get the publicity needed for funding, but together the Rare will keep fighting because treatment means life. The Rare are human, they’re families and friends facing debilitating illnesses and death because the government only sees a number on a page.

As Samantha wrote on her petition- 

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