Today is Rare Disease Day. Here is my story …
This isn’t theatre related but if you will indulge me for a few moments, this is something that is very close to my heart.
Two years ago (next week) my grand daughter Isabelle was born with a condition called BPES.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening, droopy eyelids and an upward fold of the skin of the lower eyelid near the inner corner of the eye. In addition, there is an increased distance between the inner corners of the eyes. Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.
Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or “lazy eye” (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum).
There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.
The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
The campaign started as a European event and has progressively become a world phenomenon, with the USA joining in 2009 and participation in over 80 countries throughout the world in 2015. Hundreds of cities continue to take part in Rare Disease Day and we hope even more will join in 2016. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.
Isabelle is a beautiful, happy little girl but she will always look different to the majority of us. If you see someone in the street that looks a bit different, please remember that they are just as human as you and I and so pointing and staring can make them feel self conscious. Rare diseases like BPES can still let you live a perfectly normal life, you are just a bit different from everyone else. Please don’t make them feel any more abnormal than they already do.