This article first appeared in Our World, The Information Point newsletter in 2015. This year marked marked the eighth consecutive Rare Disease Day and the theme was ‘Living with a Rare Disease – day-by-day, hand-by-hand’. It aimed to put the focus on the daily lives of patients, families and caregivers who are living with a rare disease.
With over 6,000 different rare diseases having been identified at this time, directly affecting the daily life of more than 30 million people in Europe alone, the complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones.
The Rare Disease Day 2015 theme paid tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients.
This year the centronuclear and myotubular myopathy community once again supported Rare Disease Day, showing their support on social media by wearing jeans and the colour blue and taking part in events which you can read more about in this newsletter.
US charity Where There’s a Will There’s a Cure once again held their Blue for the Cure Facebook event in February to Mark Rare Disease Day. Melanie Whiston told The Information Point: ‘This year we had 123 pictures posted to our event page. We were so excited to see the participation from around the world and encourage everyone to be Blue for the Cure 2016’.
Jackie Smith from Cleveland, Ohio told The Information Point ‘I was born with centronuclear myopathy in 1979. I had severe weakness throughout my whole body and did not hit milestones like other children. I was diagnosed when I was three years old by muscle biopsy. I wore blue to support research for CNM/MTM and my daughters Makayla and Emily wore blue with me’.
Debbie Madsden Maughan from West Haven, Utah said ‘Our picture was taken on our way out to an adaptive playground designed for handicapped kids. We were hoping people would notice us wearing blue so we could tell them why and the importance finding a cure. We were not disappointed as many people stopped to talk to Kash and we indeed spread the word’.
Josette Sirmon said ‘My nephew, Benjamin Sirmon, passed away on February 23, 2015. He had CNM. His funeral was on 27 February, one day before Blue for a Cure. I am an assistant principal at an elementary school. The people in my photos were teachers, students, administrators and staff at my school and other schools in the district honoring Benjamin and supporting me by wearing blue. It meant the world to me to feel surrounded by their love on the day we laid Benjamin to rest’.
The CMDIR Team of Nas, Eli, Anne, Janet, Scott, Sabine, and Rachelin California all wore blue to support Where There’s a Will There’s a Cure – the organisation are affiliated with the Congenital Muscle Disease International Registry (CMDIR) and their mother organisation is CureCMD. Audentes, the organisation who are developing a gene therapy treatment for X Linked myotubular myopathy also marked the day with a team picture at their office in San Fransisco.