Rare Disease Day:  KET Kentucky Edition TV Segment

I’ll never forget the day we learned Robert had a disease called Mucopolysaccharidosis type IVA (aka Morquio Syndrome).  A rare genetic disease that affects about 1 in 200,000 births.  This was not the news any parent wanted to hear.  Why us?  Why him?  Up until that day I was completely ignorant to the rare disease world.  I had no idea that there are over 6,000 rare diseases and there are 300 million people living with a rare disease.  My eyes and heart were quickly opened.  The lack of scientific knowledge and quality information on rare diseases often leads to misdiagnosis and delayed treatment. And the fact that there are often no existing effective cures adds to the high level of pain and suffering enduring by patients and their families.

Last week on February 29 the world advocated for those living with a rare disease.  Our family has been surrounded by love and advocacy for Morquio Syndrome since Day 1 of diagnosis – and we are forever grateful.  We were especially honored when KET (Kentucky Educational Television) chose to spotlight Robert and our journey with Morquio Syndrome on Rare Disease Day.  For those of you who missed it – you can now watch the segment here.

Please continue to advocate for Robert and the millions of other children and adults like Robert that live every day as “rare.”