Where has the year gone? How can it be that the Boston Marathon is 3 days from now?  Have I done enough training? Am I ready?! Do I have all activities covered for the kids?  I need to pack…finish work tasks….and BLOG!! Ugh. Have I really not blogged? How can that be, I’ve written five entries in my head!
Then just as I am getting too wrapped up in my own world, I get an email that puts things back in perspective for me. It’s from Cristina, who is the mother of my patient partner Bertrand. He has come down with pneumonia, and is now on antibiotics and oxygen.  They won’t be able to make the trip to Boston.
Over the past few months I have thought about Bertrand and his beautiful family often. They definitely keep me inspired when I’m having a tough training run, or I need to roll out of bed extra early to get a workout in. Their journey to diagnosis took years of perseverance, commitment, and courage. To discover that your son is patient 0, that he is the first person diagnosed with a disorder must be mind boggling. I can’t even imagine.
Since Bertrand’s diagnosis, his parents Cristina and Matt have worked tirelessly to spread the word about NGLY-1, and as a result other families have found a diagnosis. “Alone we are rare, together we are strong!† I am so proud to be partnered with Bertrand and to help in this small way to spread the word about NGLY-1 and this tiny but powerful community. I will miss seeing the Might family this weekend, and my thoughts are with Bertrand and his family for a speedy recovery. I know they’ll be with me in spirit.
Aw, Pam! We miss being there for you and the team! Bertrand just ate his first full meal in 4 weeks, so he is finally getting better. 🙂 We are sending all of our love and energy to you and the fabulous R4R team. xoxo