Rare Rare everywhere,

During the first week of March this year Storm Emma brought Ireland to a standstill. Accessibility to transport, medical centers and basic services were either limited or non-existent.  For the first time in 40 years the entire population of Ireland, whether we knew it or not, had a very brief introduction to what life is like for people who, on a daily basis, cannot gain access to many of the services they so desperately need. These people are those living with a Rare Disease.

One of the common themes of the day was Timing and the importance of:

1. Timely diagnosis,
2. Timely intervention,
3. Timely treatment.

Timely diagnosis is often hampered by the lack of awareness of a rare disease, thus having a knock on effect on potential intervention and treatment.  Another stumbling block to accessing timely intervention and treatments is the absence of Clinical Care Pathways. Care pathways are a roadmap of sorts for both clinicians and patients outlining best care practices. They aim to promote organised and efficient patient care based on evidence-based medicine and aim to optimise outcomes in healthcare settings. With this in mind, it makes perfect sense that timely intervention and treatment is facilitated by clinical care pathways.

In DEBRA Ireland we are aware of how a rare disease diagnosis, particularly in your beautiful newborn baby can be both devastating and frightening. Often one of the only rays of hope available during this highly emotional time is the accessibility of a care pathway, expert clinical teams, and patient organisations.

At rare disease day 2018, the patient experts in attendance called for a coordinated approach to care as well as, again, raising the much-discussed issue of Irelands postcode lottery when it comes to accessing vital services.

The National Rare Disease plan (2014-2018), which DEBRA Ireland, as part of the wider rare disease community, helped shape is coming to the end of its timeline. The MRCG, RARE Disease Ireland and IPPOSI will meet with Minister Simon Harris in June to discuss the next steps.

Let us view this new landscape, where patients and families living with EB are part of the wider rare disease community, as a tool to ensure patients voices are heard even louder than before.

Together we are not alone.

Fiona Aherne,

Advocacy & Policy Manager, DEBRA Ireland