Updated: Feb 18, 2021
Rob Sunris, CMD community member, is father to two great kids, and lives with his family in North Carolina.
Global Genes hosted their 7th annual Rare Patient Advocacy Summit this October 3rd and 4th in Irvine, California. This was my first conference of this type, and I was thrilled to attend as a father of a child with congenital muscular dystrophy. I went to gain a deeper understanding of the science and research taking place to help me be a better fundraiser and advocate. I left with so much more than I expected and now have a solid plan for how I can drive action in our rare disease community. And the icing on the cake was the chance to meet some of the wonderful Cure CMD staff in person!
Kierra, our 13-year-old daughter, has a Collagen VI-CMD. She is a typical 8th grader living the drama club known as middle school. She’s involved in a lot of activities and passionate about everything Marvel, Harry Potter, and Hamilton. At age two, we noticed she walked with a hitch in her hip and couldn’t navigate the playground as adeptly her friends. Several tests and months later she was diagnosed as some form of LGMD or CMD. The doctor postponed genetic testing at the time as he thought the tests would improve in a few years and recommended a regimen of physical therapy, stretching, and splints. It wasn’t until she was 9-years-old that a new clinic physician recognized her contractures as possibly related to Collagen VI. Sure enough, it was. Our doctor quickly referred us to Drs. Bonnemann and Foley at the NIH and we were elated to find these experts and to finally have a name for Kierra’s disorder.
Global Genes’ purpose is to connect, empower and inspire the rare disease community. The annual Rare Patient Advocacy Summit is a perfect forum for affected kids like Kierra, and all the parents, caregivers, and support groups vested in their lives.
The summit was attended by more than 800 rare disease advocates, including researchers, scientists, leaders of advocacy groups like Cure CMD, and parents like me, all collaborating for a common cause. I met so many people on the same journey as ours. Many are dealing with issues much more challenging than our family’s, and like Cure CMD, they have created their own non-profits and are leading the fight for drug developments, access to genetic testing, and pushing their legislators to action. I know it can feel like we’re alone in our battles, but more than 7,000 rare diseases are impacting over 350 million people worldwide. That’s more than cancer and AIDS patients combined. This collective effort of rare disease advocates coming together as one is very powerful to drive change.
The summit was packed with great speakers and sessions and broken down into four main tracks:
Living with a life-altering condition (focused on patients and caregivers)
Architecting your disease community (helping non-profits grow and thrive)
Patients as partners and drivers (advocates helping with research and policy)
Science and technology innovation (updates on cutting-edge research)
I spent most of my time in tracks 3 and 4 and was blown away by all the advances underway and quality of the presenters. A few sessions stood out: patients driving advances in research, and changing government policies. Global Genes recorded all the sessions and have made them available to the public. I’ll share some of my favorites on the Cure CMD Facebook pages. These presentations opened my eyes and fueled my desire to fund a research grant and be a better policy advocate.
The bonus of flying from Charlotte to Los Angeles was meeting members of the Cure CMD team! Since the conference was local to them, they were there each day helping to make our organization better. I was able to connect with Rachel Alvarez, Sarala Waller, Terry Selucky and Robin Swallow; and also Sarah Foye, the Governing Board President of our patient registry, the CMDIR. They are so dedicated and helped put a lot of the conference in perspective for me, related to CMD. I look forward to working with the Cure CMD team on this advocacy journey.
If you ever have a chance to attend an event like this, I highly recommend it. Next year’s summit will be in San Diego, CA September 18-20. I don’t think I’ll be able to make it since my calendar is already filling up with the Cure CMD Scientific and Family Conference, Rare Disease Week on Capitol Hill, and fundraising. Now that I have the insight from Global Genes and the partnerships with Cure CMD, I suddenly have a lot of work ahead of me.