World Rare Disease Day 2019

We want to thank everyone who actively participated in this unforgettable, full of support and engaging day. We hope you will join in abundance to celebrate together with us again next year.

The goal is to adopt new behaviors and attitudes towards the needs of blind people, help with early diagnosis and access to future treatments that are currently under development for LCA10.

Patients affected by rare diseases are important because currently for most disease cases there are no cures. Many young children go undiagnosed due to the limited accessibility to specialized care as well as costs of genetic testing. Rare Disease Day has been established to improve knowledge amongst the general public and voice concerns of major decision-makers to address the needs of those living with rare diseases.

February 28th, 2019 is celebrating the World Day for People with Rare Diseases, usually genetic. I encourage you to take part!  Why? Because shutting down eyes, opens up minds. We organize an event related to Leber’s Congenital Amaurosis blindness – a competition for the artistic work with blindfolded eyes. If you would like to join the fun, I warmly invite you to do so. In the family circle, education through play. “From children to children” learning through understanding. While learning about challenges in the diagnosis of this rare form of childhood blindness reflect how you feel when you do not see much?

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Blindness is a SERIOUS health condition and needs to be understood. BE SAFE! Be responsible.

Do something “in the dark”, blindfolded: dress a doll, draw a picture, eat dinner with a handkerchief covering your eyes and capture the memory (!) by taking pictures or a video (with the Rare Disease Day logo). Share with us as a family, class, school, university, hospital or a company at https://www.rarediseaseday.org/ or https://rarediseases.org/rare-disease-day/

Time until February! Have fun.

#ShowYourRare #RareDisease #Blindness #OrphanDrugs #Cep290 #Lca10 #Leber #Eye


World Rare Disease Day 2017

Vascobelo- supposedly Belgian finest blend when it comes to both coffee and chocolate. A barista’s first choice. Indeed, it melts in your mouth. Lovely. We will have a splendid time here. I am participating in several tours this year. I am open to interesting adventures and excited about the incredible opportunity to meet new travel professionals. Building a personal brand in this metaphoric environment shall be a unique chance to infiltrate brilliant minds of star experts coming from diverse backgrounds unrelated to medicine and health care.

Rare Disease Day is an international awareness campaign led by the patient organizations EURORDIS, NORD, and Global Genes among others. Together they ally close to a thousand rare disease patient organizations and individuals who are actively promoting research on rare diseases, support commercial development of orphan drugs but most of all are devoted to improving the lives of patients and families suffering from horrific rare diseases.

Every last day of February (this year February 28, 2017) hundreds of other patient organizations around the world join events dedicated to Rare Disease Day. This year’s slogan states ‘With research, possibilities are limitless’.

I feel honored to speak on behalf of Rare Disease community during these informal tour gatherings. With a story of how much can be achieved within a year without massive resources only equipped with strong determination and goodwill, I am happily sharing thoughts on how important the role of patients in research is. I enthusiastically describe how challenging the development of new therapies can be.

It is my intention to educate and plant a seed of curiosity among those who never experienced life-threatening, incurable disease. This is the time I can share the most exhilarating story about Leber Congenital Amaurosis struggles. I speak about the tools we need to provide to help patients thrive and realize their most intimate dreams. By accumulating ideas others can obtain a diversified perspective of people living with rare diseases. I highlight the significance of research and passionately press for appreciation for the meaningful role patients play in research & development. The image I strive to paint in the fellow travellers’ minds hopefully allows them to refine their understanding about blind people and eventually makes them gain respect for patients that are the driving force in the efforts into finding curable medicines.

#ShowYourRare #RareDisease #Blindness #OrphanDrugs #Cep290 #Lca10 #Leber #Eye