Starting a National Dialogue on Finding Children with Usher Syndrome
Posted on January 18, 20179 Comments 11 Likes Like this post
Nancy O’Donnell, Director, USH Trust Registry, Usher Syndrome Coalition
In 2015, I was hired by the Usher Syndrome Coalition to manage their international Usher Syndrome Registry, now known as the USH Trust. The USH Trust is a simple database of individuals of all ages and with all types of Usher syndrome. It was created because researchers told us that, although they could definitely investigate treatments and probably find a cure for Retinitis Pigmentosa (RP) associated with Usher, their research was jeopardized because they could not find enough individuals to participate in clinical trials.
No trials, no treatments, no cure. For me, this was the first time I asked the question (just to myself), “Where is everybody?”
Outreach is part of my job, so a natural place to start looking for answers was with the younger generation of families with children with Usher syndrome. I took a peek at NCDB’s annual child count.
Q: In December, 2015, how many children were reported in
NCDB’s Child Count of Children (0-21) who are Deaf-Blind?
Q: Of those, how many were reported with Usher syndrome as
the primary etiology?
(Is it me or does that number seem very, very low?)
There are reasons, of course, why this number is low and we’ll address those in the webinar. But I still have to wonder…how many kids are there with Usher syndrome in the United States?
I went back to our USH Trust to check how many children, birth to 21, we have registered: 180. Even lower.
I then decided to take a shot at calculating how many kids should, according to researchers’ estimates of prevalence, have Usher syndrome. I’ll share my results in the webinar. (Hint: It’s more than 295.)
Usher syndrome is a rare disease, but not as rare as these numbers would lead us to believe. There is a large community of individuals, and parents of children with Usher syndrome, who want to connect, who want information and support. Together, we can do that.
Recently, questions have been asked about the possibility that other diseases might be connected to Usher syndrome. With a robust registry, these questions can be asked and answered quickly.
Information. Education. Research. Support. Treatments. Cure.
Young families and children have a lifetime to benefit from these resources, if we can only find them.
I hope you’ll join us for the webinar on Wednesday, January 25, at noon PST.
Details about connecting to the webinar can be found on the webinar event page.