Yesterday, Luke had his genetics appointment at Brenner's Children's Hospital.
We were surprised to learn he has 4 DNA variants. One of them (CDH23) is associated with Usher syndrome and nonsyndromic hearing loss.
This means there is a possibility Luke may develop this syndrome in the future. With this syndrome, children develop vision loss called retinitis pigmentosa. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The interesting part is that his history fits the description. The orphanage reported balance issues with Luke as a baby and delayed age of walking (over 18 months). The physician also mentioned patients having difficulty acquiring language/communication--which also fits with Luke's slower than normal speech progress.
They took blood from Jansen today, which they hope will shed some additional light on the subject.
We were also told to have yearly ophthalmology exams for Luke (although vision changes don't often occur until after age 10).
We covet your prayers as we walk with God on this journey.
Jo Anna and Scott
Praying for your Luke! I have worked with many adults - as co workers, not clients - who have Ushers. And, every child should have yearly ophthalmology exams, but I'm glad they gave you the reminder so it doesn't get overlooked. Our kids sure come full of surprises and Usher's isn't an easy one to swallow. Again, praying for you guys.
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