This week found me in San Diego….which was awesome and beautiful and lovely. But more importantly, I was there for the Global Genes Rare Patient Advocacy Summit.
Turns out, rare is not so rare. 1,000 beautiful souls gathered to make our rare known.
Rare people are lovely. I already suspected this but there is nothing more welcoming than sitting on a shuttle and conversing about which genetic mutation you carry and why you are here.
Rare is resilient. I listened to many talk about loss; loss of their Loves and loss of their own normal. I listened to Ono Faber, Founder of a company called RDMD. Four years ago, he developed a tumor on his left hearing nerve, and another tumor on his spine, and another and another. Being an entrepreneur and a man who loved to solve problems, he had his tumor biopsied and invited researchers to his tumor’s ‘hack-a-thon’ to determine the cause of these tumors.
Those hackers dug right in and found a mutation in the NF2 gene which caused a condition called Neurofibermatosis- he is one in 30,000 with this deviation.
I want a genetic tumor hack-a-thon.
But I am not a hacker, or an entrepreneur, or a doctor, or….or….or.
On the first day I sat in a session sponsored by Courageous Parents Network. It started with the question, ‘Why are you here?’
I wrote down my answers:
- My family: I am here for Samantha, I am here for Jack, I am here for Ryan
- My Tribe: I am here for you- our Mitochondrial Community
- My future Mitochondrial Community- You who I don’t know yet- those we can help to make their journey less painful
- I am here because I want to change this outcome
I sat in a session hosted by The Two Disabled Dudes- check out their podcast. The Executive Director of Team Telomere- said the following, “I want to make today as good as it can be for as many people as I can.”
She lives with the mission to make more days available.
To make more days available.
That is what I want. I want you to have more days. And for those days to be as good as possible. I want more days, I wanted more days.
You have read the posts this week. They have been hard and heartbreaking and beautiful and hopeful. And the concept of cure sometimes is so overwhelming and seems so out of reach. We live in the fear of our Littles, our Loves and ourselves that the cure might not come in time.
The fear is real, and palpable and we have seen that fear become a reality too many times. Rare can be littered with fear.
But I also learned this week that Rare is collaborative. I met many brilliant, driven, hopeful people who have paved a little trail for us and are willing to share the map and provide a compass.
I hope you will join me for the hike.
Samsmom 