This is James
James is 15 years old, born in 1984. He was diagnosed in 1989 with Bardet-Biedl. James has a twin brother Matthew who is unaffected.

James has been blessed with an active family of boys! He has spent his childhood playing sports but despite all the activity (and noise!) James still lagged behind developmentally in expressive language. He was a chubby baby, but no more so than his brothers. He was a happy baby and toddler, easily satisfied.

James attends middle school now and it is more difficult for his needs to be met due to his visual limitations. At the age of 8 James was found to have retinal irregularity. He had been treated in the past for significant myopia.

James was referred to an ophthalmologist who decided to do an VEP (visual evoked potential). The doctor at this time decided to watch James for a year and see if any visual loss occurred. This waiting was difficult for his family, especially since the diagnosis was such a surprise.

His mom, Pamela said that she felt overwhelmed and a bit taken a back but that they somehow got through the year of everyday living with this life changing decision hanging over their heads. She says that while it isn't so hard once you get used to it, it is the getting used to it that is hard.

The visit to the specialist a year later confirmed the diagnosis. James vision had changed and worsened. James had lost night vision, peripheral vision and color vision. He was having trouble navigating, walking into people or trees and stumbling over objects in poor lighting.

James continues to play sports on a non- competitive basis. He swims as well. He still plays some football, basketball and soccer. He is troubled by what looks like clumsiness, but he persists with the help of his family and some teachers and caring people at the local YMCA.

This year is particularly difficult for James. Peer acceptance is difficult for him. James does not know anyone who experiences day-to-day living in the same way he does. James' parents want him to meet his potential. He has many roadblocks on the path however, specifically an academic environment which would enhance his reading and language comprehension, a computer, and especially a social group where he can interact as an equal.

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