KS census number a top priority in 2023

Following the successes and accomplishments of last year, one of IDefine’s priorities in 2023 is identifying more people with Kleefstra Syndrome and where they are located.

IDefine is generating this “KS Census” number utilizing the Kleefstra Syndrome Worldwide Map. At the beginning of December, 103 people had signed up to be counted. Following a social media push last month, that number has surged to 338.

“We’re going to report on the KS Census number each quarter,” said IDefine CEO Geoff Rhyne. “That will enable us to show an upward trajectory over time underscoring that Kleefstra Syndrome is a severely under diagnosed condition, and that we are discovering new patients every single day – and we know where they are. We know that there are at least 900 diagnosed patients out there.”

Why it’s important

This is a critical effort for a few reasons. One is that scientists need to be sure that rare conditions – like KS – have the patient population necessary to conduct viable research. And for drug developers, having this population available is critical when they consider whether or not to develop or test medications for a condition like KS.

“In our conversations with drug developers, we’ve repeatedly heard that it isn’t enough for a rare disease community to have an idea of how many patients there are. They need to know concrete numbers of patients that can be contacted, and their geographic locations” said IDefine Chief Scientific Officer Eric Scheeff. “Drug developers need reassurance that, if they are successful, there will be a patient population ready to collaborate with them in a clinical trial. If they don’t see that, they may choose to work on other conditions where this data is available.”

 In addition, an identified patient population is a benchmark to other potential supporters of how engaged IDefine is with the KS patient population. To best serve its community, IDefine must understand who and where that community is. Armed with patient data, the nonprofit can help connect families that live in the same geographic area creating support networks. It can also guide future projects.

“For example, it’s a dream of ours to have regional Kleefstra Clinics,” said Rhyne. “So where is the next one? We’ll need to look at the map to figure out where we have a density of patients. There are hospitals everywhere, but to make a clinic centrally located for our patients, we need the data.”

What loved ones can do

Therefore, one of the most powerful things that parents, and caregivers can do for their KS loved one is to be counted, and to help identify and encourage others to be counted.

Depending on where you live, that could be a challenge. As you can see by looking at the Worldwide Map, many communities and countries have a low diagnosis rate for genetic conditions.

“We believe this is due to a combination of a lack of awareness, a lack of resources and an inequality in access to genetic testing,” said Rhyne. “Unfortunately, many countries do not have an organization like IDefine raising awareness and serving as a resource. That’s why we’re reaching out to contacts and sister organizations around the world to see how we might be of assistance.”

View and register for the Worldwide Map here.