Rare Disease Day is a Day I Celebrate
Today I celebrate my daughter Emily who was diagnosed with a rare
disease called N-Glycanase Deficiency (NGLY1).
I celebrate that I now have other NGLY1 families that I can connect
with, compare symptoms, obtain strategies, and be part of a community
with. For the first 16 years of Emily’s life, she did not have an
official diagnosis because her disease had not ye been discovered. It was only discovered in 2012 and she was diagnosed in 2014.
I celebrate that today I can give my daughter a hug, and laugh with
her. NGLY1 is a degenerative disease. But as there are only about 60 patients worldwide with NGLY1, we do not know what it will look like as Emily gets older. So for now, I cherish every moment I have with Emily.
I celebrate today, because I have hope. We are so lucky to have an organization like Grace Science Foundation who is dedicated to finding a treatment for NGLY1, for researching NGLY1, and helping to connect all the NGLY1 families together. Before Emily was diagnosed, I did not have hope.
I celebrate today because I have support and people who love Emily. The love and support from friends is amazing. The love from strangers is inspiring. It amazes me in how many lives that Emily has touched. She has made an incredible impact on so many people’s lives, just by being herself.
I celebrate today because Emily is amazing, caring, loving, funny, and awesome. I would not be who I am today without her.
Happy Rare Disease Day.