Saturday, February 28, 2015


It is World Rare Disease Day today. It has been a lazy Saturday around here after an intense busy week, so not even "wear jeans for genes" got me out of my sweat pants today. I contemplated putting a pair of jeans on Jacob, but he needed his thick cozy fleece pants with the cold temperatures still lingering in the air.

As I was having my third new favorite cup of coffee with milk, coconut oil and honey of the day, and sat down to prepare for Children's Hospital's ethics conference next Friday, I got to think rare. I am sitting on a Grand Rounds panel to discuss genetic issues. I will open with my reflections on genetic information being on this journey with my boy for nine years. It has been a long nine years when I think back about the number of tests and biopsies Jacob has gone through. It has been a long nine years when I think about how long it takes to get back each test result. It has been a long nine years when I think about how slow research is moving forward when you do have someone you love who is impacted by a rare disease without a cure. Don't take me wrong, a lot is happening within Mitochondrial research, but you always wonder how much your own child will benefit from it. Will he still be around to benefit from it?

A week ago, I got to meet with a friend's sister and her son. They are 5 months in to the journey of rare disease. The doctors are suspecting a mitochondrial disease. There are so many questions and so few answers. A lot of things to rule out. So many tests for a little baby. A worried mom traveling down an unknown path with her baby. And this is when I realized that rare has become pretty known and familiar in my house. Or at least as comfortable as you can get in the space of rare disease without a cure. When I got the question if Jacob had gone through a cardiology workup as a baby, I honestly couldn't remember it. Jacob's first year of life is a blur of doctor's appointments and tests. I can remember too many EKGs and echos over the last nine years, but I can't remember the first workup of his heart for my life.

So, this year's World Rare Disease day I dedicate to all parents who are just entering this journey. It's overwhelming and devastating to realize your child fits into this category of diseases. Research is too slow when your child's future health is at stake. But rare can also be so very beautiful inside and out. That is what I always hang on to when Jacob's rare disease takes over our lives.

One of my favorite pictures of rare and beautiful.

Happy World Rare Disease Day!

Love, Maria.


  1. God Bless all the families and kids with "Rare" diseases!!

    1. Thank you, Linda! I hope you all are doing well!