Vision

Rare Disease Day

February 28, 2019
Rare Disease Day - Picture of Me holding a piece of paper with the words # I Am Rare

A couple of years ago, I never could begin to imagine that I would be writing about rare disease day, but here I am, with my rare disease, explaining to others why February the 28th is such an important day on the calendar. 

Background Information

Rare disease day was started up by EURORDIS and its Council of National Alliances in 2008, as a European event, but has rapidly grown to establish itself as a worldwide event. It was first held on the 29th February 2008, a rare date, that was to signify rare disease. As the 29th February only comes around every 4 years, for every other year in between, it is held on the last day of February, the 28th.  The purpose of this day is to raise awareness amongst the general public and decision makers about rare diseases and their impact on patients’ daily lives. The campaigns main target is the general public, to make them aware that rare diseases are out there and although there might not be many sufferers per disease, they still have a huge impact on the people affected by them.  The aim is also to raise awareness amongst policy makers, public authority industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. 

Picture of the rare disease day logo
Rare Disease Day Logo

Rare disease day was started up because it is so important that people are made aware, that although only 1 in 20 people will have a rare disease in their lifetime, they often have no cure for the majority, and many can go undiagnosed. Spreading awareness amongst the general public will also have impact on researchers and decision makers, who have the knowledge and power to potentially change the lives of everyone living with one.

Rare disease day events are organised and held by the public in their country often with an organisation that supports and raises awareness for the rare disease of that specific community. This could be at local or international level. Anyone is welcome to hold an event. Even if you are not part of the rare disease community, or there isn’t one you can join or an event you can take part in, you can still raise awareness in so many ways. I have found frames on Facebook that you can add to your profile picture and even using your social media accounts to speak about your rare disease and how it affects you, can be equally as informative and affective. 

Rare Disease Day And Me

So how do I fit into this day? As most of you are aware, in 2017 I was diagnosed with Stargardts Macular Dystrophy. Stargardts disease is an inherited eye condition that affects your macula which is the tiny central part of your retina, the light-sensitive layer at the back of your eye. It causes a reduction in your central detailed vision, which is the vision you use when looking directly at something. It is estimated that only 1 in 8,000 to 10,000 people will have this disease, making it a rare disease with only roughly 75,000 worldwide out of 7.5 billion people, living with this daily. The reason for its rarity is because of the inheritance pattern. I inherited Stargardts because my mum and dad were carriers (either their mum or dad also had to be a carrier and then passed their carrier gene down to both, making them carriers too). Carriers cannot get Stargardts themselves, the recessive gene doesn’t work like that, it is only affective to create a child with Stargardts if one carrier meets another carrier. This is also extremely rare as not a lot of people carry the affected Stargardts gene. Even with 2 carrier parents, each child has only a 1 in 4 chance of inheriting Stargardts or just becoming a carrier, or even neither at all. There is also a dominant form of the disease, but that usually has generations of people with symptoms in the same family that are passed down, but this is even rarer when it comes to Stargardts, but this does mean an affected parent showing symptoms of Stargardts can pass to their child. 

With all the above, I hope people can understand now, why rare disease day is such an important day for many of us living with these incurable rare diseases and if you have one yourself, make sure you shout about it today and never feel like you should hide what you have and who you are. Rare makes us unique and being unique gives you a stronger voice, so raise awareness today for you and everyone else living with a rare disease 😊♥️.

A Close Up Picture of my Eye with Eye Makeup
A Close Up Picture of my Eye with Eye Makeup

For more information about rare disease day, please see the main page below that will take you to the website xx

https://www.rarediseaseday.org

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2 Comments

  • Reply George Rector February 28, 2019 at 9:39 pm

    Great explanation of the inheritance pattern, Katie. Thank you.
    Cone dystrophy is rare, and Stargardt’s is a specific form. Even then it takes on a variety of forms.
    It is important for people to understand that rare diseases are often undiagnosed and unfunded with inadequate research.

    • Reply Katie February 28, 2019 at 11:17 pm

      Thank you for reading all my posts and your encouraging words to me, I really appreciate it George 😊 x

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