Friday, February 28, 2014

Rare and Genetic Disease Awareness

We wore our jeans today in honor of Rare Day! 

We have met and now follow a small group of kids that have similar diagnoses-- duplications on the long arm of the 4th chromosome.  There are similarities, but so far though, Matthew's specific duplication is one of a kind. We thought there were two, but that was based off less specific positioning of his duplication.

Though Matthew is alone in his specific rare disorder, he is far from alone on the rare disease journey. There are approximately 7,000+ rare diseases (meaning fewer than 200,000 cases) recognized with new ones being added by the day. 30 million people in the US are afflicted with rare diseases, which is about 1 in 10. The majority of rare diseases are genetic, so the disease is present from birth though the symptoms might not appear until later. Half of those afflicted with rare diseases are children and 30% of children afflicted with rare diseases die before their 5th birthday. (source- Global Genes Project)

Today and every day, we 'care about rare' and celebrate our rarest. For more information about rare diseases, visit

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