The Importance of Early Diagnosis & Access in Rare Disease

My name is Durhane Wong-Rieger, and I am President and CEO of the Canadian Organization for Rare Disorders.

I have two children, both of whom have rare diseases. The earlier you diagnose, the earlier you get access to treatment, and the more likely you are to have a significantly better quality of life.

Luckily, we now have newborn screenings that can identify a patient almost from birth, providing access to treatments that can intervene and potentially change the course of disease.

For instance, spinal muscular atrophy (SMA) is an important area where newborn screening is now available. This allows us to collect real-world patient data as they receive treatment, giving us a much better way to demonstrate what works. Investment in patient data collection is critical. We need to identify the right information, ensure we track meaningful outcomes, and invest in the systems that support effective long-term monitoring.

The most important way to get the right treatment to the right patient is first by ensuring an accurate diagnosis. The second is by establishing an ongoing monitoring program. And certainly, that long-term monitoring program will allow us to track how well the patient continues to live in their real world.

The research we’ve done recently indicates that about 60 percent of patients say they can get access to treatment, while a good 40 percent either have no access or only partial access. What we do know is that globally, very few patients who have those diseases get access to the treatments that are available. Only about 10 percent of the patients who are eligible for treatment actually receive it.

We need to recognize that providing access to all patients has a long-term benefit, not just to that patient, but for the whole system.