Ever since Rare Disease Day was established in 2008, I’ve viewed it from two lenses: as a parent to two young children with a rare condition and as a professional whose career has been focused on the technology to help people live healthy lives.
I became a member of the rare disease community when my twins, Noah and Alexis, were born. We didn’t know it at the time, but they had a genetic condition that caused a life-threatening deficiency in their dopamine and serotonin levels.
Rare diseases are often misdiagnosed
When the twins began to have severe and debilitating muscle spasms, they were ultimately diagnosed with cerebral palsy at age 2. Unfortunately, as many in the rare disease community have experienced, misdiagnosis is common.
After four years of research, my wife, Retta, who was not convinced with the diagnosis, read medical journals, articles, talked to researchers and met with doctors, eventually discovering our twins’ diagnosis of dopa-responsive dystonia, which can cause muscle contractions, tremors and uncontrolled movements.
After a confirmatory diagnosis and prescription, the twins rebounded and began to thrive. They went from a life of wheelchairs and feeding tubes to dance, gymnastics, and every sport they always dreamed of playing.
It took five years to correctly diagnose them with dopa-responsive dystonia, and another 10 before whole-genome testing would reveal the mutation that caused the serotonin deficiency—and how to treat it.
Since that time our ability to diagnose, treat, and provide quality-of-life benefits to people with rare diseases has increased exponentially. The diagnostic journey we experienced with Noah and Alexis took 15 years. That journey today would be, in some aspect, days or even hours.
Accelerating progress for people with rare diseases
Our ability now to look at clinical data, genomics, and ultimately proteomics, allows us to bring more facts to the table—and not just for Alexis and Noah.
After the twins were diagnosed, we worried that Zach, our oldest son, may also have the disease, especially since it can manifest at any age. Any time Zach got sick, we didn’t know if it was something as benign as allergies or if it was the initial symptoms of dopa-responsive dystonia.
Genetic testing gave us clarity to know what was causing the twins’ symptoms and how to treat them, but it also confirmed that Zach didn’t have the genetic markers.
Today’s genomics technology can show you a life-threatening genetic mutation hidden in your DNA, but it also can show you that it’s not there at all—and that can be just as valuable.
With genomics, the likelihood of living with a misdiagnosis lowers exponentially. The speed and accuracy of today’s technology are changing the world for those in the rare disease community and beyond.
How Luna empowers the rare disease community
My work at Luna is personal because I’ve seen the power of communities connected by, through, and for research, with amazing results. These results simply would not have happened in a traditional engagement with the healthcare system. The Luna platform empowers communities to digitally mobilize, gather their health data, develop solutions to their questions, and partner with industry and researchers to find answers.
We are proving that there is a way to simultaneously create connections among individuals in a group and across groups, industry leaders, and scientists to help solve health challenges. It’s a win-win-win.
We’re working together to help improve the human condition.
Our twins are now 25 years old. They are thriving in ways we didn’t think possible for the first decade of their lives. Looking back, we didn’t even know if they would survive this long.
Rare Disease Day continues to be a celebration for our family, not just on the day, but every day. I continue to be encouraged by the progress made in the rare disease community, by the connectedness, support, and also the partnerships between patients and researchers.
Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data—health records, lived experience, disease history, genomics, and more—for research.
Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.
By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.
CHIEF EXECUTIVE OFFICER
Joe is a transformational executive with deep experience leading strategic technology operations, digital transformations, and disruptive innovation across industries. His twin children were born with a rare genetic disorder that was undiagnosable until they underwent next-gen sequencing. Since this life-saving breakthrough, Joe is dedicated to helping advance the use of genomics to give families of children with rare diseases answers and opportunities for treatment.