I always feel mixed emotions in my community when World Rare Disease Day rolls around each year. I feel empowered because I have been part of The Global Genes Project for over a year and I know I have many tools at my disposal for spreading the word about that initiative and my son’s condition – Joubert Syndrome. In the past year, The Global Genes Project has enabled me to raise money locally for The Joubert Syndrome and Related Disorders Foundation and perhaps more importantly, to raise a lot of awareness with members of the community who see my son, Shaan around town and yet are perhaps too reticent to ask about his condition.
At the same time, I have been a bit dismayed with my inability to rally other parents of children with rare conditions in our area. I have heard of children in our area with Prader-Willi Syndrome, Progeria, Cru Du Chat Syndrome and a host of other rare conditions. Yet, it has seemed like a daunting task to identify some of these individuals and to form some sort of bond to promote the cause of children’s rare conditions as a whole. I would love to align myself with other “rare” parents in the area, yet this has alluded me for the past couple of years.
This year, I did not do as much fundraising through The Global Genes Project because I was quite busy heading up the 7,000 Bracelets for Hope campaign, whereby The Global Genes Project has been collecting denim blue themed bracelets to distribute free of charge to parents and caregivers of children with rare conditions. I spent several months contacting jewelry and bead designers, as well as beading societies and clubs. I then hosted my own jewelry making party in order to make my own donation to the cause and came away with the knowledge of how to create even more bracelets to donate.
The one mainstay in all of my efforts with The Global Genes Project since I first became involved with it, has been how one local church – CenterPoint Community Church – has demonstrated its commitment to it. One of the couples actively involved in the church is close to my family; Carrie Ann Cannon is my son’s caregiver through a respite agency and her husband, Chris, has created a number of videos about Shaan and Joubert Syndrome to spread the word about the condition. Last year, the church hosted a jeans day where all of the members wore denim ribbons and I spoke about children with rare conditions. This year was perhaps even more meaningful to me. The church congregation got together and for an entire evening, made bracelets for 7,000 Bracelets for Hope. The church then planned another jeans day in honor of World Rare Disease Day. All of the members wore their jeans and my family also wore our 46NYC Treatable t-shirts.
As is my norm, I only had a vague notion of what I wanted to say before I got up on the stage. The previous year, I spoke in somewhat general terms about rare diseases and disorders. This time, all I could think about were how odds and statistics had a completely different meaning to me now than they did before my son was born. I noted that I used to view statistics of something unlikely to happen as pretty much always in my favor–e.g. a 1/100,000 chance of something happening meant it would never happen to me. How could I ever be the 1? I never suspected that our family could be the 1 in that statistic and yet that is exactly what happened when our son was born with a severe case of Joubert Syndrome.
I then looked around the church and realized I was not alone in this feeling. There were several other “1’s” sitting before me. Chris has struggled for several years with autoimmune hepatitis. The young pastor who spoke at the church noted that his grandmother died of Huntington’s Disease and that he could possibly have the gene for it. I saw a young mother whose infant son has battled brain cancer over the past year. There were probably several others sitting in that church who had been touched by a rare disease or disorder.
As I remained up on the stage for a few minutes after that, I felt that perhaps I had found that illusive bond I was looking for with the “rare” community in my area. It may take a while to reach out to what seems like a surprisingly large number of other families touched by rare diseases and disorders in the community, but I feel that I have at least made some solid steps in that direction. I am extremely grateful to CenterPoint Community Church for supporting this cause with such enthusiasm and generosity.
Elizabeth Joshi is a parent advocate, Joubert Syndrome and Global Genes Project committee member. You can reach her for comments at firstname.lastname@example.org