May 2013 LAM NZ Update

The Impact of Rare Diseases: in New Zealand and Internationally.

Rare Diseases are conditions that affect a small portion of the population but are often chronic, progressive, degenerative, life threatening and disabling. It is generally accepted that “Rare” disorders are those that affect fewer than 1 person per 2000 people in New Zealand and in most countries globally.

While individual rare diseases are uncommon and disparate, collectively, there are approximately 7000 different types of rare diseases and disorders affecting an estimated 350 million people worldwide.

Despite the progress that has been made over the past few decades to help improve the quality of life for patients and their families managing these complex diseases, there are still significant gaps in care and barriers facing the community at large.

The results of a recent Rare Disease Impact Report Survey completed by Shire Human Genetic Therapies in the USA and the UK, published 1000 responses from rare disease sufferers and has revealed that:

• It takes on average, more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis.
• Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/ manage patients with rare diseases , compared to more common diseases.
• Before a definitive diagnosis, a patient typically visits up to eight physicians ( four primary care and four specialists) and receives two to three misdiagnoses.
• Due to the uncertainty, the lack of available information, resources and economic strains, rare diseases take a major emotional toll on patients and their caregivers.
• For those rare disease patients where treatment options are limited, overall, they worry more,feel more depressed, interact less and feel more isolated from family and friends, compared to patients with rare diseases for which there are available treatments.

Studies by ( S. Johnson et al, 2006 ) of New Zealand and Australian women and the diagnosis of Lymphangioleiomyomatosis (LAM) showed that the average time from presentation of respiratory symptoms until the diagnosis of LAM was seven years in Australia and in New Zealand six and a half years.

LAM patients have reported that they have been invariably misdiagnosed as having an unusual type of asthma, or “exercise induced asthma”.

Ongoing work by New Zealand and Australian LAM patient support and advocacy groups, believe that these figures have improved over the past six years and women with LAM are being diagnosed with greater accuracy and frequency.