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Rare Disease Day Recognition.
Today is Rare Disease Day 2021, a day to raise awareness about rare diseases and the lived experiences. Likewise, as part of rare disease day recognition, the theme of this year is:
“Rare is MANY, Rare is STRONG, Rare is PROUD”.
Rare Disease Day org website provides more information on what Rare Disease Day is about. In addition, why we have a day dedicated to Rare Diseases.
The Rare Disease Day website has information on the definition of a rare disease, key figures, and the main challenges. (of living with a rare disease). Additionally, the website provides plenty of captivating resources, such as a factsheet . The factsheet outlines advocating for social inclusion and including rare diseases in universal health coverage.
Rare Disease Day Awareness.
Cambridge Rare Disease Network is a charity that hosts educational events and raises awareness about rare diseases. Their website has a page dedicated to patient insights. It also provides a list of events, and plenty of resources on talks, films, and rare disease publications.
The Cambridge Rare Disease Network: “unites patients, advocates, experts and leaders”. They address challenges of the lived rare disease experience and share knowledge. (https://www.camraredisease.org)
In November 2020, I attended RAREfest20, hosted by Cambridge Rare Disease Network. Also, RAREfest is a festival (science, technology, advocacy, and arts) dedicated to rare disease research and innovation. Furthermore, last year’s festival took place virtually with a host of interactive exhibits and live talks. The festival also had a film and poster gallery.
The event was inclusive and easy to access; giving people time (after the event) to access the festival via a link. (more time to visit the exhibit booths and playback talks).
Studies and Surveys.
In my Rare Disease Day 2019 blog, I discussed care and research, mental health and information and support. (from the perspective of a mother of a child living with a rare chromosome condition). Moreover, that year, I attended the Rare Disease Day Reception at Westminster, London.
This month, I participated in a medical history interview for international research. (on a microduplication of chromosome 16p11.2, my son’s diagnosis). Additionally, the medical history interview takes place yearly to help researchers gather more information (periodically) on 16p11.2 microduplication. Also, to help have a better understanding of the duplication.
I receive alerts, now and then, for new online studies and international surveys. The latest research study was on how genetic findings associated with autism are used. So, that pretty much sums up our experiences up until now.
Lastly, I want to end this blog by saying, stay proud and strong!
Disclaimer: The contents of this blog is for information purpose, and to raise awareness. (as part of Rare Disease Day 2021). I received no payment or any other compensation for this post. External links in this blog post are for information purposes only.