bardet biedl syndrome

‘From birth, he began growing in length and weight. Judgement was cast from others who’d never seen anything like our boy before. Doctors were hitting dead ends.’: Bardet Biedl warrior diagnosed after 5-year quest for answers

“One day I went to grab the mail, only to find a surprise letter that took me off my guard. I immediately scanned the letter with my phone app and emailed it to his primary care pediatrician. ‘Am I reading what I think I am?’ Literally in shock, after over 1826 days, I was holding a letter that confirmed Joshua, our boy.”

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