This is the 13th year I have celebrated Rare Disease Day, but it never gets old. Each year brings a yearning for advancements in access to existing treatments and the development and availability of new treatments and cures for all living with rare diseases. As the rare disease community shares every year, taken together, rare disease is not rare. About 10% of the population has a rare disease, which means about 40% of all nuclear families have a family member with a rare disease.
In the thirteen years I have been celebrating this day, there has been an enormous and positive snowball effect, but instead of the ball going down the mountain, the rare disease community is climbing the mountain and making positive change.
On the symbolic front, this Rare Disease Day, there were monuments lit up in the beautiful Rare Disease Day palette all over the world. Some cities were covered in this beautiful light. In our own little neck of rare disease woods, the St. Albans Cathedral in the UK was lit up especially for the Children’s Hyperinsulinism Charity. Pretty cool.
During the Pandemic, we at Congenital Hyperinsulinism International (CHI) started to offer Rare Disease Day virtual events via Zoom to bring those in our community together to share and celebrate. This year we had another wonderful virtual gathering. Because congenital hyperinsulinism is so rare, people will congregate virtually from all over the world. Our Zoom members hailed from 20 countries. This condition really unites us, across borders, cultures, religions, and even hyperinsulinism subtypes. We are a diverse bunch, but we share our support for each other, and in wanting a continuously improving life for all with congenital hyperinsulinism (You can read about the dreams of our rare disease community, what they are hoping will change, at this link: https://congenitalhi.org/2024-rare-disease-day/).
In our short virtual hour, we learned of the hopes and dreams of our community members and of the concrete way our community is collaborating to turn those dreams into action, and that action into progress.
In this amazing time when we can meet up with each other through internet connections, I was able to lead the CHI virtual event from John Hopkins Hospital, where I was to address members of the faculty and staff of the Department of Genetic Medicine.
So directly following the CHI Zoom event, I moved to the adjoining auditorium to be part of the Rare Disease Day event at this outstanding teaching hospital.
There were 4 speakers, and they were all compelling and brilliant. I could hang out with rare disease scientists, family members, and advocates all day. I learn so much from them. There was one amazing mother sharing the story of her son’s diagnostic odyssey and medical journey. What spoke volumes to me was this mother’s determination to give her son a special gift, playing the cello. Despite low vision and fine motor complications due to his condition, this mother persevered to ensure cello playing was prioritized for her son. Her presentation ended with a video of her son playing the cello in a concert with other children. Cello is his special thing, and he has worked so hard on his craft despite many physical obstacles. The goal for this mother and son is not perfection, not fame, but having a special craft to personally delight in and to participate with others in making music. It brought tears to my eyes.
Next up was a geneticist, Caralynn Wilczewski, of the National Human Genome Research Institute of NIH, who spoke about reverse phenotyping, and the value of this kind of scientific inquiry to predict and halt or mitigate the harms of genetic disease. It was fascinating and something completely new to me. I am already thinking about how this area of investigation could be of value in our congenital hyperinsulinism community.
After Caralynn presented, I had the opportunity to share about our family’s experiences with rare disease and the work of CHI and our model of collaboration to drive timely diagnosis, new treatments, and cures. I shared how through our HI Global Registry, those living with congenital hyperinsulinism are contributing their experiences and taken together, these experiences are bringing new insights and understanding into medical research. I shared how, thanks to our amazing donors, CHI has created a space and forum for leading researchers to collaborate, to solve the biggest problems for people living with congenital hyperinsulinism.
Jeneva Burroughs Stone and Rob Stone then addressed the room. They are a mother and son duo that focuses on rare disease and disability advocacy, and they speak regularly and join many political causes. Rob cannot speak with his voice because of his condition but speaks through his eyes, translated onto a monitor. It is really something. Jeneva, Rob’s mother, is an eloquent speaker and writer and she shared that Rob is an artist. What was so moving about these two was their potent love for each other, engagement in life, and positivity in the face of significant disability.
I have to end by telling you a little about Amy Patterson, who organized the event. Amy is a genetic counselor with a focus on rare diseases at Johns Hopkins University. I have known Amy since she was 4 years old and starting pre-kindergarten. She is one of my daughter Hannah’s best friends, and Amy grew up a part of my son Ben’s community. From the time Amy was a teenager, she participated in Rare Disease Day events organized by CHI. She is an inaugural member of the CHI Sugar Soiree Junior Committee and has been an incredible support to the CHI community in that role.
And now Amy is a professional in the rare disease world and the organizer of the fantastic event at Johns Hopkins. It is exciting to see the next generation of rare disease leaders usher us all into what will promise to be a breakthrough era where new technologies and knowledge, infused with data driven testimony from the people who live with rare diseases, will bring us to timely diagnosis, new treatments, and cures. My 13th Rare Disease Day was not marred by the unlucky reputation of 13. In fact, this was one of the best, ever.
