Sunday, September 27, 2015

What in the world is Global Genes?

Global Genes

Global Genes is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates, and clinical partners.

This year marked our second year attending the Global Genes Rare Patient Advocacy Summit and Tribute to Champions of Hope gala.  We attend this event because the Summit provides us with an opportunity to learn from other patient advocacy groups (typically, parent run).  Many of these groups have years, if not decades, of experience providing support for their communities, finding treatments, and striving to deliver cures.  Today, there are over 7,000 distinct types of rare and genetic diseases, but only 5% have an FDA approved treatment.  These organizations are beyond amazing, because they are typically run by parents with the simple mission of saving their children's lives.

Most important, we attend this event to network and learn.  It gives us a chance to meet with parents fighting similar disorders, sit down and speak with researchers and meet with Companies introducing new technologies to find cures for Rare Diseases.

This year we spent time with our friends, Tracy and Jennifer VanHoutan of Noah's Hope, Matt Wilsey of the Grace Wilsey Foundation, Kerry Hughes of Harmony 4 Hope, and Steve and Gay Grossman of ADCY5 Connect.  Each of these individuals has provided our family with unbelievable support and guidance through this journey.

We met amazing individuals like 3x Transcontinental Runner, Noah Coughlan.  Noah is an amazing individual who has gone above and beyond to raise awareness about Batten Disease and Rare Diseases.

We sat down and discussed details about Maya's disorder with amazing researchers like David Pearce of Sanford Research.  Yes, he spent over an hour speaking with us about the current state of research that will benefit Maya.  More importantly, he insisted that we follow up and keep asking questions.

We spoke with Chris Gibson of Recursion Pharmaceuticals, who is applying amazing technologies to try and apply the benefits of known (and FDA approved) drugs to rare diseases.  Chris was awesome, because he asked for a copy of Maya's story so that he could share it with his team and help remind them that their discoveries with have a tremendous benefit for so many people.

We met Sharon King of Taylor's Tale.  Sharon's daughter has a form of Batten Disease that is very similar to Maya's disorder.  The researchers, believe these disorders are so similar, that success in one will benefit the other.

We also met Barbara Cole, who traveled from the UK.  Barbara works with Abigail Cook, a young girl who has mutations to the same gene as Maya, but is also fighting the disorder as a Pre-Teen/Teenager.  We will stay in touch and exchange advice on how to help teenagers work through this disorder.

All of the above benefits are just the tip of the iceberg.  So much learned, so many connections and so many relationships strengthened.

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