Heidi Bjornson-Pennell

In 2010, after 4 years of searching for answers as to why my youngest children were so unwell, we finally received a diagnosis of primary ciliary dyskinesia, a rare and progressive genetic disease with no approved treatments. At the time, little was understood about PCD and our doctors had little information to give us. Hope came when I found the PCD Foundation online –  a small patient-run organization, with limited funding or support, but that had developed early ties in the research community. Grateful to have found this small but passionate community, that was committed to identifying the tens of thousands of patients thought to be undiagnosed and developing the path to a cure, I joined the board of the PCD Foundation and helped build a strong research community and support the development of the infrastructure to support research in PCD. Today, the PCD Foundation has developed a network of 30+ clinical centers, launched a clinical registry, supported the development of diagnostic and treatment guidelines in the disease, and pushed forward worldwide research towards better understanding of PCD, including the identification of 50+ disease-causing genes. I am eternally grateful for the work of the PCDF to support the patient community, elevate the patient voice, and tirelessly drive forward research in this rare disease, bringing hope of a cure to all those affected and those that love them.

I am eternally grateful for the work of the PCDF to support the patient community, elevate the patient voice, and tirelessly drive forward research in this rare disease, bringing hope of a cure to all those affected and those that love them.

At CZI, I lead the Rare As One Program, developing and strengthening the infrastructure to support patient-driven research in rare disease, and supporting a network of (currently 50) patient-driven rare disease organizations (through funding, capacity building and opportunities for shared learning, connection and collaboration) as they work individually and together to find treatments and cures. In my personal life, for 8 years, I have served as a board member of the PCD Foundation – the organization that represents the disease area which two of my children are affected by, and the one closest to my heart, and continue to support the PCDF through monetary and other volunteer support.