Today is Rare Disease Day - a day that shines a light on people living with a rare disease. It is celebrated every year on 28 February (or 29 in leap years) as this date is also the rarest day of the year.

A disease is rare when it affects fewer than 1 in 2,000 people, within a general population. According to the National Institutes of Health, there are more than 7,000 known rare diseases with new ones being discovered every year.

Rare diseases in numbers 300 million people live with a rare disease. 2 million Australians live with a rare disease. This equates to 5% - 5.9% of the global population. 72% are genetic diseases.

Over the years PBI has helped many individuals living with rare blood disorders, each of them facing similar challenges. In recognition of the day, we’d like to feature the remarkable stories of two PBI patients, Samie and Giovanni.  

Samie's story Perth mum Samie was diagnosed with the rare blood disorder Thrombotic Thrombocytopenic Purpura (TTP) in 2016, an illness which sees her blood create clots in the small vessels around her body, which can then stop oxygen flowing to essential organs like her brain, kidneys and heart. Since her diagnosis, Samie has been supported and heavily involved with PBI, and we've been successful in developing testing methods for the disease, undertaking further research and initiating a global standardisation study.

PBI’s research division is leading the Asia-Pacific region in Thrombotic studies for TTP, and the specific gene at the centre of the condition.

“At PBI, we are working hard on additional innovative breakthroughs, like the genetic testing we’ve discovered for TTP, to ultimately advance haematological research into common and rare fatal blood disease,” explains Professor Ross Baker.

The cutting-edge research being undertaken by PBI has standardised a method for testing to help detect this gene, which has led to a proposal for further research on the disease and a global standardisation study, playing a critical part in building an international rare blood disorder community, united in purpose.

Giovanni's story In 2006, Giovanni was diagnosed with chronic lymphocytic leukaemia, a rare type of cancer of the blood and bone marrow. He spent several years having chemotherapy with mixed results as the cancer continued to return. Giovanni is one of a handful of patients who have participated in multiple clinical trials offered by PBI. After participating in the clinical trial for a drug aimed at treating his and similar cancers, Giovanni has been given the ‘all clear’ from any trace of the disease in his blood.

PBI has become a global hub for both blood disorder and malignancy trials and is achieving outstanding results for patients.

PBI remain committed to supporting the rare blood disorder community, running regular fundraising appeals to raise funds for further breakthroughs in medical treatment for blood disorders and malignancy.

“As a team, Perth Blood Institute is embracing literally dozens of opportunities to be a part of world first studies, which have the opportunity to present us with world-first results that will have a direct impact on those diagnosed with lymphoma and other blood diseases like Giovanni’s,” explains Professor Ross Baker.

With continued financial support, we can equip our scientists to continue to develop world-class research into rare blood disorders and enable PBI’s clinical trials unit to continue to grow.

Visit the Rare Disease Day website to learn more about this very special day.