Many rare disease parents gain strength and inspiration by watching their ‘disabled’ child adapt because of – and sometimes thrive in spite of – his or her condition.
One such parent is Kristin Smedley, who has 2 sons, both of whom have a rare disease that has left them blind.
Lebers Congenital Amaurosis (LCA) is a rare ophthalmologic disease that leads to blindness. At last count, 18 variations of the disease were found; the LCA8 variation is based on a mutation of the CRB1 gene. There are approximately 300 cases of LCA8 in the United States.
Two of those 300 cases are sons of Kristin Smedley.
Typically, LCA CRB1 children are born with about 10% of their vision, but, over time, that will decline due to the progressive nature of the condition.
While life as a blind person has its disadvantages, Kristin, president of the Curing Retinal Blindness Foundation, soon learned that as her sons grew and accomodated the rare condition into their lives, it was she who had problems adapting to this new normal.
At a TEDx talk earlier this year, Kristin explained how her sons’ loss of vision changed how she viewed the world more than how the disease had changed her sons’ view of the world.