Usher's Syndrome PT I

Tuesday, June 30, 2009
Like Alpers Syndrome, which I wrote about last week, Usher Syndrome has many components. In fact, there's a little vocabulary for those of you who are like me and didn't know what constituted a “syndrome”. A syndrome is a disease or disorder that has more than one symptom. I give full credit to this website for teaching me that fact. So we know, just by the name, that Usher Syndrome has many components. It affects, for example, hearing and eyesight. I'm going to admit now that there is a lot of information for Usher Syndrome, and therefore I will be breaking it into two posts. Because I learned this week that there are actually three types of Usher, I will report on the differences in the three later this week as well as treatments for the condition.

As mentioned above, Usher Syndrome affects the patient's sight and hearing. Approximately 3-6% of children who are deaf have Usher Syndrome, and another 3-6% of children who are hard of hearing have Usher. Approximately 4 in 100,000 babies born in the US have the disorder.

To make plain the reality those who suffer with Usher Syndrome face, there is no cure for the disease. This brings it in line with all of the Autosomal Recessive Diseases. Currently, the best a person can hope for is to find it early so that education programs can begin immediately to help a person adjust to the syndrome.

Another thing that Usher Syndrome has with all other Autosomal Recessive patients is that the vast majority of their parents didn't know they were carriers of the recessive disease before they were born.

Usher is diagnosed from specialized audio and vision tests and not usually as the result of a blood test. Although nine genes that cause the defect have been located, the norm for all current diagnosis is via these vision and hearing tests. For those of us who are familiar with cystic fibrosis, this is somewhat reminiscent of the sweat tests to confirm CF despite the availability and use of blood tests.

Again, because this topic is so large, I will deal with treatments of the disease in the second post this week when I discuss the differences between the three types of Usher Syndrome.