6 continents, 6 portraits, 6 heroes, 6 lives. Rare Disease Day shines a light on the global and diverse community of over 300 million people – men, women and children, adolescents, young-adults, adults, seniors. In this article we hear from some of the key stories that will feature in this year’s Rare Disease Day global campaign.
Each of these stories feature individuals living with a different rare disease, each of them facing similar challenges.
Let us start with Angelina. Dancing and watching cartoons are 5-year-old Angelina’s favourite things to do. From Australia, Angelina is living with CASK-gene related disorders – more precisely, she is living with an X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia (MICPCH). There are many reasons which make Angelina unique – but concerning the rare disease mentioned, there are only 50 cases known worldwide. Angelina’s big brother is very proud of her, she loves to play and draw with him. She has a Facebook page where she shows us all her achievements!
Not far from Australia we can find Syafiq. He is living with Hypohidrotic ectodermal dysplasia (HED). Living in Malaysia, he loves hiking in the jungle and jogging. He also enjoys tasting the many varieties of Malaysian cuisine! “I feel special and unique. This feeling only came to me after I paid more attention to my disorder after leaving home to enter university and researching about HED.”
You won’t find anyone more fashionable than Tristan! He is a patient advocate, from the USA, living with Sickle cell anemia. His passion in life is design and entertainment. As a fashion designer, Tristan spends every moment possible sketching. “My biggest supporters are my family, especially my mom and nan-mom (grandmother) who have always cared for me.”
Regina from Brazil, loves traveling and discovering new cultures as well as helping other people through her role as vice-president of Instituto Vidas Raras. She is in remission after having leiomyosarcoma, a type of rare cancer. “I see life in the smallest details. Even a smell of coffee being made brings me joy. The smell of the sea, the waves touching the skin. The feeling of joy of being where I am, even if only in the comfort of my HOME.”
And from Brazil to Kenya where you can meet 4-year-old Harvey who is living with Spinal muscular atrophy (SMA). He loves bubbles and massages. Harvey enjoys listening to sounds, seeing and hearing people talk around him and watching cartoons. He communicates with those close to him, such as his mother, Nancy, through his beautiful eyes.
Northern Norway is where Jon-Kristian and his family live. At just 12-years-old Jon-Kristian plans, shops and cooks dinner for his family once a week with the help of his personal assistant. His reward, a cold can of fizzy drink afterwards! Jon-Kristian is living with Osteogenesis imperfecta. Watching his friends play football, e-sport and playing board games with his family are just a couple of the things Jon-Kristian loves doing!
Bone, neuro-muscular, rare-cancer, neurological, renal, haematological are a handful of the many diverse types of rare disease. This Rare Disease Day the worldwide community comes together to demonstrate that rare is many, rare is strong, rare is proud.
We want to hear from you and hear your stories. A number of toolkits are being published soon to allow you to promote Rare Disease Day. Please make sure you register to be kept up to date and follow Rare Disease Day on Twitter, Facebook and Instagram.
What about you? Can you tell your story?
Mucopolysaccharidosis type I