Rare Disease Day, Joubert Syndrome, and Differences vs. Similarites

Today, February 28 is Rare Disease Day. It's a day to raise awareness about rare disorders worldwide.

A disease/disorder/syndrome can be considered rare if the number of people it affects is less than 200, 000. With a current estimate of around less than 1000 known cases worldwide, Joubert Syndrome is definitely rare.

Joubert syndrome is a rare genetic disorder, characterized by a wide variety of symptoms and traits. While many symptoms of the syndrome are common to everyone, each person is different. This is why it is so important to focus on the similarities, and I feel it applies to any rare disorder.

Since being diagnosed with Joubert 2.5 years ago, I've seen and met families and kids dealing with issues I cannot even begin to relate to. However, I have also found many, sometimes humorous, commonalities. I will never know what it is like to be partially blind or need the use of a wheelchair, and I still do not know what a ciliopathy is, but I can appreciate things like a teenager's need for privacy or their love of accessible summer camps, a boy's obsession with superheroes, or even a family that says pop instead of soda.

So, on this day, instead of focusing on the big things that divide us, appreciate the little things that we all have in common.

The Rare Writer

Hi, and welcome to The Rare Writer.

I'm starting this blog as a way to share my life story and try to help out people going through similar circumstances.

See, I'm 28 years old and physically disabled. About 2.5 years ago, I was diagnosed with Joubert syndrome, a rare genetic disorder (hence the blog name). This past July, I was asked to speak at a conference in Minneapolis, Minnesota about my life with the syndrome (I'll post more about this later on).

Now, I've been speaking about being disabled for quite some time now, but the reactions and encouragement from everyone at this conference, from parents to doctors, and even some of the older kids, has made me want to pursue the speaking, writing, and general advocacy at a more professional level.

 I'm very grateful to finally be doing this, and hope people enjoy what I have to say.


Until my next post, cheers!