Altogether, there are an estimated 300,000 people in Ireland who are living with a rare disease. However, given the increasing amount of genetically-oriented rare diseases, it’s possible that even more people have a rare disease – but are simply undiagnosed. Similarly to other areas of the world, pursuing a rare disease diagnosis in Ireland takes time. According to Donegal Daily, 73% of people seeking a rare disease diagnosis are being followed by three or more specialists. Nearly 40% of people experience immense diagnostic wait times spanning five years or longer. When you look at the numbers, it becomes clear that people with rare diseases face incredible barriers and seemingly insurmountable odds. This can be incredibly harmful for people in this community. Later diagnosis means later treatment, which can cause worse outcomes. That’s why Rare Diseases Ireland (RDI), a national patient advocacy alliance, launched a new campaign called “Get Rare Aware.”

Get Rare Aware

Through the “Get Rare Aware” campaign, the RDI hopes to encourage stakeholders in the rare disease space – from patients and families to politicians, healthcare providers, and researchers – to take action. More specifically, people are asked to speak to their elected officials to take action in the sphere of genetic services. In County Donegal (Co Donegal), there are 44,654 people who have a rare disease. But getting to the point of diagnosis is difficult. Ireland has less people employed in genetic services than other areas of the world. This has led to a significant waiting period. For people aiming to get genetic testing or other similar services, there is at least a 2-year wait time, if not longer.

Providing additional funding and staffing resources to the Department of Clinic Genetics at Children’s Health Ireland (CHI) could help with this problem, says RDI. Through this, RDI hopes that more people will be able to access earlier testing and treatment. You see, when diagnosis is delayed, people may be treated for diseases or conditions that they don’t have. This not only fails to address the underlying issue but could cause additional harm or damage. By providing more resources, and cutting down on diagnostic times, people can get the right diagnosis, treatment, and care at the right time.

RDI is now hosting a series of online informational events as part of “Get Rare Aware.” As described on the RDI website:

These events will bring together medical experts and people living with rare disease to highlight the challenges people are encountering when seeking a diagnosis for a rare disease. Political representatives representing those living in the Regional Health Area (RHA) are invited to join the information event [and] events are also open to the public.

Two events have already occurred; you can find the recordings on the above website. Coming up in the future include:

• An event for RHA E (Limerick, Tipperary North, Clare) on May 8 at 12pm DST
• RHA A (North Dublin, Meath, Louth, Cavan, Monaghan) on May 15 at 12pm DST
• An event for RHA C (Tipperary South, Waterford, Kilkenny, Carlow, Wexford, Wicklow, South Dublin) on May 29 at 12pm DST
• RHA D (Kerry, COrk) on June 12 at 12pm DST

If you would like to attend an event or learn more, head to the RDI website.