November 7, 2017 will mark the one-year anniversary of the launch of the Mowat-Wilson Syndrome Patient Registry. The launch of the registry was made possible through a grant from Genetic Alliance and the dedication and determination of Al Triunfo. Al is a board member of the MWS Foundation and the grandfather of the handsome Logan who has MWS. The grant allows the Mowat-Wilson Syndrome Foundation to use Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) to build and house the registry.
The MWS Foundation was founded in 2013 with the mission to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education. One of the main challenges for the families of Mowat-Wilson Syndrome patients and the foundation has been lack of information. With fewer than 250 cases in the US, of which only about 150 are genetically confirmed, the syndrome is poorly understood in the medical community and severely underdiagnosed. Incidence estimates are 1:50,000 to 1: 70,000.
To date, the MWS Foundation has enrolled 117 registry participants from 13 countries. In February of 2017 the registry was also mentioned on Fox 5 News in Atlanta for Rare Disease Day. The clip has received more than 175,000 views on YouTube alone, and it has already helped five more families seeking diagnoses to find the Foundation.
“Participating on the MWS Patient Registry was a lot easier than I thought. Sharing the information of our children is crucial to educate doctors and researchers about MWS”, said Laura Chrysostomo, mother of Bella, a 14 year old girl with MWS.
Currently the registry features three surveys: Background information, maternal data and genetic information. Plans are to launch a 4th survey that will capture growth data will be used to develop specific growth charts (height, weight, cranial circumference, body mass index) for children and young people with MWS. The charts will then be available to be used by pediatricians or other caregivers to monitor growth parameters according to more appropriate references than those of the general population. There are plans to launch surveys to capture information about gastrointestinal challenges and seizures as well.
While the registry participation has exceeded the goal of 100 in the first year, there is still a long way to go. Many registrants have not yet completed all 3 surveys. Our goal is to inspire 100% of the families affected by MWS to participate and share the data.
As a new syndrome, there is not much information collected about our loved ones. Right now we don’t know all their is to know about the syndrome, but with more and more families, and younger and older people in our groups, we are learning. Collecting more data about more areas that affect our kids, from a broad population, is going to teach us about MWS.
We hope all MWS families participate. We need to push the MWS boundaries and see what’s possible!!
To register or to continue your participation in the Mowat-Wilson Syndrome Patient Registry, please go to Mowat-Wilson Syndrome Patient Registry.