News Video | Policy | GPs | Hospitals | Medical | Mental Health | Welfare | Search

 


Shedding light on an ultra-rare blood disease

Shedding light on an ultra-rare blood disease

Daniel Webby to address public seminar on World Rare Disease Day today – Thursday, February 28, 2013


Auckland-based artist, Daniel, 32 has one life-long wish –to pursue an ordinary life with his six-year-old son, Wu.

Recently diagnosed with an ultra-rare, life-threatening blood disease that claims the lives of one-in-three-patients within five years of diagnosis, if untreated, Daniel will today reveal his personal story of living with Paroxysmal Nocturnal Haemoglobinuria (PNH) at a public seminar marking World Rare Disease Day (February, 28, 2013).

Hosted by the New Zealand Organisation for Rare Disorders (NZORD) at the Rydges Hotel, Wellington, this morning’s seminar will feature a host of presenters with an interest in, or living with, a rare disease. The seminar will examine access to specialised medicines for rare “orphan” diseases.

World Rare Disease Day is an annual awareness-raising event designed to improve access to treatment and medical representation for those living with rare diseases and their families.

According to Daniel, “There are approximately 7,000 known rare diseases worldwide, thousands of which are prevalent in New Zealand today.

“World Rare Disease Day offers our PNH community, as one of the 147-strong patient support groups comprising NZORD, an opportunity to generate public awareness of our ultra-rare disease, known to affect less than 20 Kiwis.

“It also presents us with a platform to call on PHARMAC to urgently subsidise the only effective treatment of its kind for our disease, for those whose lives so desperately depend upon it,” said Daniel.

PNH is a silent killer that affects people in the prime of their lives. On average, the disease strikes people in their mid-30s, however 10 per cent of all people with PNH start developing symptoms before they’re 21. The median survival for people with PNH is 10 years post-diagnosis.

“PNH patients simply don’t have time up their sleeves. The disease can trigger a range of health complications including fatigue, poor physical function, fatal blood clots, chronic kidney disease, anaemia, stroke, heart failure and vital organ damage,” Daniel said.

“Ultimately the constant destruction of red blood cells overwhelms the body, and the waste material cannot be processed, resulting in clots developing in almost any organ.”

Complications relating to the disease almost claimed Daniel’s life last year. He has since endured a slow and painful road to recovery.

“Because PNH is an ultra-rare disease, it’s difficult to show or tell people what it’s about, or what’s going on, because it all happens internally. It can be incredibly isolating,” said Daniel.

“The situation is really grave. PNH is deadly and members of our community are growing sicker by the day, battling a progressive disease that claims lives.

“The only effective treatment for PNH, Soliris, is cost-prohibitive without Government subsidy,” Daniel said.

“Members of our small patient association could benefit significantly from PHARMAC granting us subsidised access to this treatment.

To learn more about Daniel’s situation and the plight of other Kiwis living with PNH, and their fight for access to effective subsidised treatment, attend this morning’s public seminar in Wellington, or tee up an interview with Daniel.

About the PNHSANZ
The PNHSANZ was established by Daniel and other concerned New Zealanders in 2012 to fight for access to the only effective treatment available for PNH. The association is one of 147 patient support groups comprising NZORD. For more information about PNH, or to sign their ‘Petition for life’, visit www.pnhsanz.org.nz.

About PNH
PNH is an ultra-rare, progressive and life-threatening disease known to affect less than 20 New Zealanders. The disease is characterised by ‘haemoloysis’ or the destruction of red blood cells, which can cause a variety of major health problems such as the formation of blood clots, high blood pressure and damage or failure of organs including the brain, liver, gastro-intestinal system and kidneys.

Various symptoms, including abdominal pain, difficulty swallowing, poor physical function, shortness of breath, and debilitating fatigue, can also compromise a patient’s quality of life.

Estimates suggest one-third of patients with PNH do not survive more than five years from the time of diagnosis.

About World Rare Disease Day
Rare Disease Day was founded in Europe on February 29, 2008. With the original intention of celebrating the day every four years (leap years), momentum and enthusiasm for the day spurred an annual celebration, with events now being staged world-wide. New Zealand began participating in World Rare Disease Day in February 2010.

About NZORD
Formed in September 2000 following a conference of more than 30 rare disease support groups, the NZORD network has since grown to 147 support groups. The organisation aims to provide New Zealanders affected by rare disorders and their families with resources and information. NZORD also monitors rare disease issues and policy matters, while continuously building partnerships between patients and their families, support groups, clinicians, researchers, policy-makers and industry.


ENDS

© Scoop Media

 
 
 
 
 
Culture Headlines | Health Headlines | Education Headlines

 

Review: “Salute” By Royal New Zealand Ballet In Wellington

The Royal New Zealand Ballet performed “Salute” for a final time in Wellington on Sunday night, and it was nothing short of spectacular. More>>

ALSO:

NZ on Air: More Funding For TV Captions To Increase Access

More funding for TV captions to increase access NZ On Air has increased funding to provide more captions and audio description on television programmes for the hearing and sight impaired. More>>

Music: So Laid Back Country China Album Release

On Friday night, So Laid Back Country China held a gig at Meow for the release of their new album With Knees of Honey in Goodbye Canyon. I briefly spoke with Harriet lead vocals, keyboard) and Michael (lead vocals, guitar) before the gig More>>

Art: Wellington Region Celebrates Matariki

Eight Wellington museums and galleries have joined forces to present a major programme of exhibitions and events to celebrate Matariki 2015, the Māori New Year. The Wellington Matariki Festival will host more than 60 free events and activities between Saturday ... More>>

Wellington: TEDxWellingtonWomen Speakers Unveiled

The lineup is announced today for the highly anticipated upcoming event TEDxWellingtonWomen. Speakers include local women and men who have lived extraordinary lives and have ideas worth spreading. More>>


Books: Witi Ihimaera To Address ‘State Of NZ Literature’at Festival

6 May 2015 MEDIA RELEASE Witi Ihimaera to Address ‘State of NZ Literature’ at Dunedin Writers and Readers Festival The New Zealand Book Council has chosen the 2015 Dunedin Writers and Readers Festival as the stage for its annual address, which ... More>>

Culture: Historic Māori Portraits Travel To The Czech Republic

Image credit: Gottfried Lindauer, Wahanui Reihana Te Huatare, oil on canvas, Auckland Art Gallery Toi o Tāmaki, gift of Mr H E Partridge, 1915 More>>

Art: Something Felt, Something Shared - Enjoy

Gabrielle Amodeo, Ruby Joy Eade, Clare McLean, Kalya Ward Curated by Emma Ng May 7 – 30, 2015 Opening: Wednesday May 6, 5.30pm Strange frequencies are channelled through personal narratives and poetic placeholders in Something felt, something ... More>>

Culture: Pukeahu Park ANZAC Day Commemoration 2015

Pukeahu Park ANZAC Day Commemoration 2015 Images from New Zealand Defence Force Click for big version A bugler plays The Last Post Click for big version A View from the top of the Carillion Click for big version Faces old and young Click for big ... More>>

Television: MediaWorks Announces Dancing With The Stars Hosts

MediaWorks and BBC Worldwide ANZ are delighted to announce host Dominic Bowden alongside co-host Sharyn Casey for the hit series Dancing with the Stars. More>>

Get More From Scoop

 
 

LATEST HEADLINES

 
 
 
 
Health
Search Scoop  
 
 
Powered by Vodafone
NZ independent news