Rare Disease Day 2013


Thursday is typically known on this blog as Thoughtful Thursday. This Thursday however is Rare Disease Day and I thought I would use my blog to talk about this.

A rare disease is a condition, syndrome or disorder that affects 1 in 10 000 people or less. There are more then 8000 rare diseases and 80% of these affect children and most of them are found in childhood and affect them throughout their lifetime. While these diseases are classed as rare collectively they affect up to 10% of the population. The majority of rare diseases have no cure. (Taken from Rare Disease Day Australia)

So you may be wondering why I wanted to talk about Rare Disease Day. While I am very lucky in that my immediate family does not suffer from a rare disease I have 2 members of my extended family that do and so it is close to my heart.

I have a beautiful 10 year old cousin who suffers from Cowden’s Syndrome. Cowden’s is characterised by small non-cancerous growths that can be found on the skin however can be found elsewhere. These are normally benign however people with Cowden’s have an increased risk of developing several other types of cancer. So Cowden’s affects around 1 in every 200 000 people and is caused by a mutation of PTEN gene. My cousin has faced many surgeries and has had her thyroid removed however she still live a very active lifestyle with dancing, guides and netball.

The other member of my extended family who suffers from a rare disease is my cousins little 2 year old girl. She suffers from Galactosemia. Galactosemia is the inability of a person to metabolise sugar galactose properly. It is not related to those who are lactose intolerant and should not be confused with it. Galactosemia is diagnosed from at birth when the heel prick is done and if not found can lead to death. There is no cure for Galactosemia and currently the main treatment for this disease is through diet by excluding galactose. It occurs in 1 in 60 000 births. My cousins little girl however is a happy and adorable little girl and she doesn’t miss out on much as she has awesome parents who would do anything for her!

This s the 6th Rare Disease Day and its main objective is to raise awareness among the public of rare diseases and how they impact both individuals and their families. The focus of this years Rare Disease Day is ‘Rare disease without boarders’ this theme was chosen as in many cases there are few people who suffer from a disease in each country and support can be hard to come by as well as research into the disease can be scattered.

Here are some pages that might be of interest to people looking for more information on Rare Disease Day or Galactosemeia.

Rare Disease Day Australia

Rare Disease Day

Australian Galactosameia Support Network


4 thoughts on “Rare Disease Day 2013

      • Even over continents! My daughter sent an Email to your cousin just a few moments ago. She was so thrilled by the irony. Amazing what keeps them happy. So glad they can share in the “cowden’s” world with a peer- even so far away…

  1. It is pretty awesome the power of the internet and great that they can share with someone who knows what it is like! I love the fact that cowdens isn’t stopping them from achieving all that they can! They are very strong girls with an awesome filled life ahead of them!

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