JJ’s parents were delighted when their son was born after a normal delivery. He was an adorable baby, hitting every developmental step until he was three months old. A routine test at that time revealed JJ was not tracking objects with his eyes and had nystagmus, or involuntary eye movement.
Suddenly their healthy baby boy was being booked in for an MRI scan, a memory that is still difficult for his parents to relive four years on. The next two months were emotionally and physically grueling for JJ and his parents as they went through the process of finding a diagnosis, which involved multiple doctor visits and invasive tests. Watching their child have his eyes dilated and held open with metal clamps for an exam was excruciating.
When JJ was five months old he was diagnosed with LCA 1 (Leber Congenital Amaurosis). The family was happy to have a diagnosis but left with a major emotional and financial burden. They, like most families with rare diseases, had to search for answers on their own. JJ’s family found help from the Foundation Fighting Blindness (FFB), where they met other families in similar positions, helping them regain hope and move forward.
Another avenue open to the family was talking to Anthony Yanni, head of Sanofi Medical Intelligence & Patient Perspectives and his team. Yanni understands the importance of listening to families like JJ’s.
“We’re giving a voice to patients and we’re integrating that voice into how we are developing medicines,” says Yanni, a clinician by training who works within Sanofi Global Research and Development.
His team’s mission is to engage with patients to gather real insight into their disease, the hurdles they face in their everyday lives, the treatment conditions they would be willing to accept, and what they hope to achieve with treatment. These patient insights are aggregated and shared with Sanofi’s research and development teams to provide a broad perspective of the patient that informs the development of investigative treatments.
To make it easier for researchers to connect with the appropriate patients, Yanni helped set up a dedicated portal where scientists working in Research & Development could request to receive insights into a specific disease. Sanofi’s Patient Advocacy teams, a critical partner in this process, then help match researchers with patients based on the need.
The connection to JJ and his family was made via the Rare Disease Patient Advocacy group at Sanofi Genzyme, Sanofi’s specialty care global business unit. Thanks to this connection, Yanni and his team are able to engage with patients and their families right from the very beginning of a research project. Close collaboration with clinical operations through a new initiative, Patient Informed Research and Development, ensures that the patient’s voice continues to be heard throughout the whole process.
“When we speak to the patients with rare diseases they make their case for why it’s really important that we pursue a particular treatment. Even if there are only 2,000 people with the disease in the country, they want to let us know, Here’s how the disease impacts my life, here’s how it impacts my cost of care, here’s how it impacts my family, here’s what I have to look forward to in my life. These perspectives help our teams focus our research projects on how we can most effectively help those patients. And frankly, that’s what motivates me when I get up in the morning,” says Yanni smiling.
JJ is now a happy, otherwise healthy five-year-old. He can see some shapes and colors and enjoys watching shows up close on an iPad. His main complaint is that behind his eyes feel dry and he pokes them regularly, and due to prior experiences he is now reluctant to let doctors go near his eyes. JJ is still too young to have a full understanding of the severity of the disease, and his parents dread the day when they will have to explain his condition to him.
JJ’s family now devotes a lot of time to LCA1, including fundraising and advocacy. They hope through advances in research, their son will one day be able to read and play catch.