Sharing Our Story With The UDN Team

June 12, 2019

 

We received Carson and Chase’s diagnosis of MEPAN Syndrome at Stanford a little over a year ago as a result of our acceptance into the Undiagnosed Diseases Network program. We’ve been in contact with the UDN teams at Stanford and Harvard since then, and they have offered us incredible national media opportunities to share our diagnostic odyssey and experience as UDN participants, which has allowed us to build more awareness for MEPAN while highlighting the great work that the UDN does helping find answers for rare disease families.

 

As part of that I was recently invited by the UDN Coordinating Center team at Harvard to share Carson and Chase’s story with representatives of the NIH, NINDS, and members of the 12 UDN sites at their annual Steering Committee meeting at UCLA. Kelly Cervantes, who works with Citizens United for Research in Epilepsy and whose daughter remains undiagnosed, shared her story as well. We both were very grateful that incredible resources that the UDN has at its disposal - world-class experts in genetics, neurology, metabolomics, model organisms, etc. - were available to us as part of being a UDN participant. It’s a unique program that deserves continued NIH funding, as it uses team science and a collaborative approach to help solve the most difficult of rare and genetic disease cases.

 

While I was there, I had the opportunity to connect with various UDN experts to bring them up to speed on MEPAN Syndrome and ask questions about ways to help advance understanding of the disease and create research projects that can help MEPAN patients. I had great conversations, and everyone was very helpful in sharing ideas and names of other researchers and medical experts that might be interested in helping Carson and Chase. As always when I have the chance to meet people face-to-face, share our story and ask questions, I come away buoyed with hope for the future of finding something - a therapy, treatment or drug - that can help make the quality of life better for our boys and the other MEPAN patients. In the meantime, with the help and support of the amazing community of people we have around us, Nikki and I will do our best to make that happen day-to-day for Carson and Chase.

 

The UDN is a unique program that helps patients that have nowhere else to turn, and makes those services available to families at no cost. The spiraling cost of healthcare in the United States makes programs like these vital, particularly for underserved families. Other funding possibilities were presented at the meeting, including working with patient advocacy groups, Pharma and venture capital investors to help defray the costs of maintaining the UDN, but also to help expand its capabilities and add new UDN sites, both of which are great ideas. There are also exciting possibilities for industry collaborations that could even offer therapeutic treatments for UDN patients.

 

I hope that I can stay in touch with the UDN team as we continue our journey. Super-grateful to have had the opportunity to share our story and convey the importance and positive impact the program is having for families like ours. Thank you, UDN!

 

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