NZ Herald article

28 February 2019

Rare disorder diagnosis not easy

  • Patients living with rare diseases visit an average 7.3 physicians before receiving an accurate diagnosis;
  • 40% of GPs and 24% of specialists lack sufficient time to do a workup for a rare disease even when they suspect the patient may have one;
  • It takes on average 4.8 years from symptom onset to accurate diagnosis for a patient aged 0-20;
  • 44% of patients agreed that because of a slow diagnosis, treatment was delayed and the impact on their condition was negative.

Source: The Journal of Rare Disorders, 2014

There needs to be greater recognition of rare disorders by those who have the power to help, says New Zealand Organisation for Rare Disorders chief executive Dr Collette Bromhead.

Bromhead is speaking out on Rare Disease Day in an effort to raise awareness of the 377,000 New Zealanders affected by a rare disorder.

"The number of New Zealanders who have a rare disease is higher than those with diabetes," Bromhead said.

"There are between 5000 to 7000 different rare conditions known, and while individually these disorders are uncommon, collectively they affect 8 per cent of our population. This is the paradox of rarity.

She said there needed to be "greater recognition of rare diseases as one of the significant health challenges of our time", from both the Government and the health sector.

NZ Herald full article