Chuck's Birthday Beach Party

All of you know I am a pediatrician and many of you know I was born with a congenital enzyme deficiency called Gaucher disease. This genetic disorder has no cure and no treatment. As I was growing up, it affected my life in so many ways.  Some of the symptoms were bone pain, a giant spleen and low platelets that made me bruise easily and a long list of other symptoms.  

But I am very lucky, because I have what is called Type 1 Gaucher which was later able to be treated with replacement of my missing enzyme.  To this day, I receive IV enzyme every 2 weeks. 

Other types of Gaucher disease known as type 2 and 3 cannot be treated this way and have severe brain involvement. The missing enzyme leads to an accumulation of certain fatty chemicals in many organs, such as liver, spleen and bones. 

Little Miss Hannah, as I know her, sadly had an accumulation of those chemicals in her brain as well as other places. This tragically lead to her death at an early age because it isn’t really treatable. To make matters worse, the process is slow and hard for the family and the child. 

I got to be a part of this road with an amazing little girl lovingly called Little Miss Hannah. After Hannah passed, her mom, Carrie Ostrea, created the Little Miss Hannah Foundation to enhance the quality of life for children with rare, life-threatening, medical conditions. Many of these children are in hospice or palliative care. Some have Gaucher and many have other conditions. 

The reason I have asked you to contribute to The Little Miss Hannah Foundation, in lieu of gifts, is it combines what I have spent my adult life doing, taking care of children, with medical condition such as Gaucher and others that I know and understand first hand. 

So, thank you for generously helping these children that I have never met, but are so very dear to me.  You are doing an amazing thing that is much more valuable than any gift you could ever give me. 

Love, Chuck