How do you like your steak? Rare, medium, well done? What about a disease that is brought upon you? Would you like it to be a rare one, or one that is well known and has high incidence? On this 366th day of 2012, the world is getting together to observe World Rare Disease Day. The whole world is getting together to focus on rare diseases, how they impact individuals, how they impact families and how we can move forward and fight this together.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
The 6000 to 8000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Now, imagine being a two year old girl enjoying life and learning with gusto. Playing with your Fisher Price toy phone and pretending to talk to your girlfriends. Now imagine the next day you try to reach for that toy phone and your arms and hands do not move. You are looking at them, but your body is not listening to your brain. You begin to cry effortlessly and constantly, because you do not know what is happening. You accidentally wet your pants, and continue to cry, not because you wet your pants, but because you really wanted to use the bathroom but couldn't, and think that your parents are not going to be happy with you. Now, imagine being a parent of this girl. Why is she all of a sudden not moving? Why is she constantly crying? Why is she all of a sudden constantly putting her hands in her mouth? Years later and hundreds of doctor visits later, you find out that your daughter has Rett Syndrome. What? Rett Syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births! How can our little girl be one of those 10,000 to 23,000 girls?
Now, imagine being a parent of a now young woman that has a rare disease on this World Rare Disease Day in 2012 — Rett Syndrome. Even though it is considered a rare disease, it is now at the forefront of research, and is being hailed as a Rosetta Stone of information for not only Rett Syndrome research, but for autism and other neurological disorders of the world. Imagine, being a parent of a girl who is stricken with this rare disease, and finding out that researchers have found a way to reverse symptoms of this disease in a mouse model! Praise God!
The International Rett Syndrome Foundation (http://www.rettsyndrome.org/) has partnered with the National Organization for Rare Disorders (http://rarediseases.org/) which is also partnered with EURODIS (http://www.eurordis.org/) to observe February 29th, 2012 as World Rare Disease Day. Look around you today. Who has a rare disease?
Rett Syndrome is a rare disease, and Sarai Pethes of Greendale Wisconsin has it. She is rare, but in my and God's eyes, she is well done! And the research and efforts behind this rare disease are also well done!