Where has the year gone?Â How can it be that the Boston Marathon is 3 days from now? Â Have I done enough training?Â Am I ready?!Â Do I have all activities covered for the kids? Â I need to packâ€¦finish work tasksâ€¦.and BLOG!!Â Ugh.Â Have I really not blogged?Â How can that be, Iâ€™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.Â Itâ€™s from Cristina, who is the mother of my patient partner Bertrand.Â He has come down with pneumonia, and is now on antibiotics and oxygen.Â Â They wonâ€™t be able to make the trip to Boston.
Over the past few months I have thought about Bertrand and his beautiful family often.Â They definitely keep me inspired when Iâ€™mÂ 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.Â To discover that your son is patient 0, that he is the first person diagnosed with a disorder must be mind boggling.Â I canâ€™t even imagine.
Since Bertrandâ€™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.Â â€œAlone we are rare, together we are strong!â€ Â 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.Â I will miss seeing the Might family this weekend, and my thoughts are with Bertrand and his family for a speedy recovery. I know theyâ€™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