Friday, March 24, 2017

Rare Disease Day 2017

February 28th, 2017 marked the 10th annual Rare Disease Day!

"With research, possibilities are limitless".

The theme this year is "Research". Rare disease research is crucial to providing patients with the solutions they need, whether it is a treatment, cure, or improved care.  It is also imperative that researchers work closely with patients, families, caregivers and advocacy groups to maximize the chances for success in advancing rare diseases research.

Imagine what it would be like to live without answers to the most basic of questions. This is the reality for many rare disease patients. Research can lead to the identification of previously unknown diseases and can increase understanding of diseases. It can enable doctors to give correct diagnosis and provides information to patients about their disease. It can lead to the development of new innovative treatments.. and in some cases a cure. People living with a rare disease are sometimes unable to find answers and medical solutions they need, often because of a lack of research. To illustrate this frustration, this year's video draws a parallel with a routine that many of us go through multiple times a day - searching for answers on the internet. The video highlights how isolating it is when you search on the internet but receive the response 'Your search had no results'.

The goal of Rare Disease Day is to connect patients, families, caregivers, and patient organizations; to provide opportunities for patients and parents to share their stories; and to promote education, awareness, and advocacy. We were a little late celebrating Rare Disease Day here in Newfoundland, but we had a gathering this past Thursday to raise awareness of the day and to acknowledge the experiences of rare disease patients and their families right here in our province.

Sarah Predham, a Genetic Counsellor with the Provincial Medical Genetics Program of Eastern Health, presented "Genetics and Rare Disease: An Evolutionary Tale".

Simon Lono is a health care and rare disease advocate. He spoke about his experience as a patient living with a rare diagnosis, and his struggles within the health care system.

Leah Farrell is a parent of a child with a rare diagnosis, and a dear friend of mine. (I shared Leah's son's story HERE). Leah spoke about creating community and making connections with other families living with a rare diagnosis.

To close the evening, we were treated to a fabulous performance by the Perlin Players - a division of the Vera Perlin Society, whose mission is to secure and/or provide quality service and support for individuals with a developmental disability and their families in the St. John's and surrounding area, enabling them to participate in all areas of community living.

The Perlin Players are an extraordinary group of individuals who are well-known for their many successful lip-sync productions and dinner theatre shows. This was my first time seeing the group perform, and I was blown away! If you have the opportunity to take in a show, I would absolutely recommend it! These guys (and lovely lady!) did not disappoint!

A disease is considered to be rare when it affects less than 1 in 2,000 people. Due to the low prevalence of each disease, finding somebody else with the same condition can be a challenge. If you are affected by a rare disease, you may be the only person in your local community or the only person your doctor has ever seen with that condition. This can feel incredibly isolating, but it is important to remember that you are not alone! Social media networks have become a vital communication tool for patients and their families, allowing them to connect with others living with a similar diagnosis, and to meaningfully support one another. Rare Disease Day and events like this one allow the greater community to come together and show our support for those living with a rare disease, to learn about various rare conditions, and to create awareness and advocacy around the more than 7,000 rare diseases and disorders worldwide.

For more information on the Rare Disease Day campaign, visit

No comments:

Post a Comment