This past weekend I attended the in St. Petersburg, FL, and I don’t think there are words that can truly describe the experience. The unique combination of sadness and hope was something I have never experienced anywhere else.
As a newcomer to the rare disease community, I was incredibly nervous about my first family conference. Other than Jacob, I’ve never met any children with Canavan disease, Tay-Sachs or any of the other allied diseases. I didn’t know how the families would respond to me; although the work I do every day is intended for their benefit, I know that I can never fully understand exactly what they are going through.
Despite my apprehension, everyone was incredibly welcoming. The families were all willing to share their stories with me and give me a glimpse into their everyday lives. I heard conversations about shopping for shoes, different types of wheelchairs and head supports, feedings, school experiences, meds and more. I spoke with single parents, adoptive parents, parents of more than one affected child, grandparents, siblings and so many more people. It was overwhelming in the best of ways.
On Friday, there was a Canavan research update led by researcher Annette Bley who told us about a project just beginning in Europe called . LeukoTreat is a new series of research projects funded by the European Union focusing on leukodystrophies. The projects are all kicking off this year and are taking place at universities and labs across Europe. There are a number of different Canavan projects going on under the LeukoTreat umbrella, including a natural history study of Canavan disease. This is a great opportunity for collaboration, and I am so glad I was able to meet her and hear about their work.
On Saturday morning, I sat in on a sibling workshop for 5 and 6 year olds. This was one of the most devastating parts of the whole weekend for me; watching those poor children trying to cope with grief at such a young age broke my heart. “Sometimes I lay awake at night because I’m scared the Sandhoff disease is going to get me,” said one little boy whose brother had passed away last year from Sandhoff. “Once I dreamt I was a doctor and I found the cure for the Sandhoff disease and my brother got better,” he added later.
On Saturday afternoon, we learned about the Tay-Sachs sheep and watched Farmer Fred receive an award for his commitment to acquiring sheep with Tay-Sachs disease so there is a large animal model for researchers to work with on a gene therapy trial. This wonderful man, who has no personal connection to Tay-Sachs, literally trades away his healthy sheep for affected animals to help support research.
During the closing dinner on Saturday, I kept thinking that if we could just get all the politicians, business leaders and billionaires into this room to see these children, we might never again have problems with funding. Looking at these beautiful babies, trapped in their own failing bodies, whose lives will be all too short, and the wonderful, supportive families who deal with a grief most of us can never imagine —how could anyone not want to help?
NTSAD has announced that next year’s conference will be in Boston from March 31 – April 3, and I already cannot wait to attend. I hope next year we can encourage more Canavan families to go and take advantage of this incredible support network. Although it was an emotionally charged weekend, it was so wonderful to see the faces of those who have been or will be helped through our work.
:: Cross-posted at Jacob’s Cure Blog, thanks Sarah!